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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   MACF1_chr1_39199695_39492138  MACF1_chr1_39199695_39492138 (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 23499
ensemblid ENSG00000127603.32
hgncid 13664
symbol MACF1
name microtubule actin crosslinking factor 1
refseq_nuc NM_001394062.1
refseq_prot NP_001380991.1
ensembl_nuc ENST00000564288.6
ensembl_prot ENSP00000455274.1
mane_status MANE Select
chr chr1
start 39204695
end 39487138
strand +
ver v1.2
region chr1:39204695-39487138
region5000 chr1:39199695-39492138
regionname0 MACF1_chr1_39204695_39487138
regionname5000 MACF1_chr1_39199695_39492138

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 7555 61 12 11 33 1 4 23 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002 0/0 7555 39 17 3 16 2 1 10 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003 0/0 7555 38 2 10 21 1 4 17 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004 0/1 7555 15 6 3 0 2 3 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0005 0/0 7555 11 10 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0006 0/0 7555 10 5 1 0 0 4 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0007 0/0 7555 6 0 0 5 0 1 2 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0008 0/0 7555 5 4 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0009 0/0 7555 4 3 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0010 0/0 7555 4 0 0 4 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0011 0/0 7555 3 3 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0012 0/0 7555 2 2 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0013 0/0 7555 2 2 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0014 0/0 7555 2 2 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0015 0/0 7555 2 2 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0016 0/0 7555 2 0 0 2 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0017 0/0 7555 2 0 1 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0018 0/0 7555 2 0 0 2 0 0 2 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0019 0/0 7555 2 0 1 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0020 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0021 1/0 7555 1 0 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0022 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0023 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0024 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0025 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0026 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0027 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0028 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0029 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0030 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0031 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0032 0/0 7555 1 0 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0033 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0034 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0035 0/0 7555 1 0 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0036 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0037 0/0 7555 1 0 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0038 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0039 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0040 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0041 0/0 7555 1 0 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0042 0/0 7555 1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0043 0/0 7555 1 0 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0044 0/0 7555 1 0 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0045 0/0 7555 1 0 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0046 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0047 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0048 0/0 7555 1 0 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0049 0/0 7555 1 0 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0050 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0051 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0052 0/0 7555 1 0 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0053 0/0 7555 1 0 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 22668 47 7 11 25 1 3 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0002 0/0 22668 36 2 9 20 1 4 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0003 0/0 22668 17 0 2 13 1 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0004 0/0 22668 14 14 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0005 0/0 22668 10 5 1 0 0 4 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0006 0/1 22668 7 2 2 0 2 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0007 0/0 22668 6 0 0 5 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0008 0/0 22668 6 5 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0009 0/0 22668 5 5 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0010 0/0 22668 5 4 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0011 0/0 22668 4 4 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0012 0/0 22668 3 0 0 2 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0013 0/0 22668 3 3 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0014 0/0 22668 3 3 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0015 0/0 22668 3 0 0 3 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0016 0/0 22668 3 0 0 3 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0017 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0018 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0019 0/0 22668 2 0 0 0 0 2 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0020 0/0 22668 2 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0021 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0022 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0023 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0024 0/0 22668 2 1 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0025 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0026 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0027 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0028 0/0 22668 2 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0029 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0030 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0031 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0032 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0033 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0034 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0035 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0036 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0037 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0038 0/0 22668 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0039 0/0 22668 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0040 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0041 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0042 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0043 0/0 22668 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0044 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0045 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0046 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0047 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0048 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0049 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0050 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0051 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0052 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0053 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0054 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0055 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0056 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0057 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0058 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0059 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0060 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0061 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0062 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0063 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0064 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0065 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0066 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0067 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0068 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0069 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0070 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0071 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0072 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0073 1/0 22668 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0074 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0075 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0076 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
c0077 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 1673 183 59 36 62 5 19 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0002 0/0 1672 34 0 3 29 1 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0003 0/0 1673 15 14 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0004 0/0 1673 4 0 0 4 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0005 0/0 1673 3 3 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0006 0/0 1673 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0007 0/0 1673 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0008 0/0 1673 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0009 0/0 1673 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0010 0/0 1673 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0011 0/0 1673 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
t0012 0/0 1672 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0002 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0003 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0004 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0005 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0006 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0007 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0008 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0009 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0010 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0011 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0012 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0013 1/0 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0014 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0015 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0016 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0017 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0018 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0019 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0020 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0021 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0022 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0023 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0024 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0025 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0026 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0027 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0028 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0029 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0030 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0031 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0032 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0033 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0034 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0035 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0036 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0037 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0038 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0039 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0040 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0041 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0042 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0043 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0044 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0045 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0046 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0047 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0048 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0049 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0050 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0051 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0052 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0053 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0054 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0055 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0056 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0057 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0058 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0059 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0060 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0061 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0062 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0063 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0064 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0065 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0066 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0067 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0068 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0069 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0070 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0071 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0072 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0073 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0074 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0075 0/1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0076 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0077 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0078 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0079 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0080 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0081 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0082 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0083 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0084 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0085 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0086 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0087 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0088 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0089 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0090 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0091 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0092 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0093 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0094 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0095 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0096 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0097 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0098 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0099 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0100 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0101 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0102 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0103 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0104 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0105 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0106 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0107 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0108 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0109 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0110 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0111 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0112 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0113 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0114 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0115 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0116 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0117 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0118 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0119 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0120 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0121 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0122 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0123 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0124 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0125 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0126 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0127 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0128 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0129 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0130 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0131 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0132 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0133 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0134 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0135 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0136 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0137 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0138 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0139 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0140 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0141 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0142 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0143 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0144 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0145 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0146 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0147 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0148 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0149 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0150 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0151 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0152 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0153 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0154 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0155 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0156 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0157 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0158 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0159 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0160 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0161 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0162 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0163 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0164 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0165 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0166 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0167 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0168 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0169 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0170 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0171 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0172 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0173 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0174 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0175 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0176 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0177 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0178 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0179 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0180 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0181 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0182 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0183 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0184 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0185 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0186 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0187 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0188 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0189 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0190 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0191 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0192 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0193 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0194 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0195 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0196 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0197 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0198 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0199 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0200 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0201 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0202 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0203 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0204 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0205 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0206 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0207 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0208 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0209 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0210 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0211 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0212 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0213 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0214 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0215 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0216 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0217 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0218 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0219 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0220 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0221 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0222 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0223 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0224 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0225 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0226 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0227 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0228 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0229 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0230 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0231 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0232 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0233 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0234 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0235 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0236 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0237 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0238 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0239 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0240 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0241 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0242 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0243 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0244 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0245 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
g0246 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 22668 47 7 11 25 1 3 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0012 0/0 22668 3 0 0 2 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0017 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0018 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0031 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0034 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0036 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0037 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0040 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0041 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0062 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0003 0/0 22668 17 0 2 13 1 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0004 0/0 22668 14 14 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0015 0/0 22668 3 0 0 3 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0024 0/0 22668 2 1 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0025 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0039 0/0 22668 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003c0002 0/0 22668 36 2 9 20 1 4 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003c0066 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003c0071 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0006 0/1 22668 7 2 2 0 2 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0011 0/0 22668 4 4 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0019 0/0 22668 2 0 0 0 0 2 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0035 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0038 0/0 22668 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0005c0008 0/0 22668 6 5 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0005c0009 0/0 22668 5 5 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0006c0005 0/0 22668 10 5 1 0 0 4 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0007c0007 0/0 22668 6 0 0 5 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0008c0010 0/0 22668 5 4 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0009c0014 0/0 22668 3 3 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0009c0047 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0010c0016 0/0 22668 3 0 0 3 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0010c0064 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0011c0013 0/0 22668 3 3 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0012c0029 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0013c0023 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0014c0021 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0015c0022 0/0 22668 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0016c0026 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0017c0020 0/0 22668 2 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0018c0027 0/0 22668 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0019c0028 0/0 22668 2 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0020c0075 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0021c0073 1/0 22668 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0022c0072 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0023c0074 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0024c0076 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0025c0030 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0026c0049 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0027c0063 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0028c0050 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0029c0061 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0030c0060 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0031c0059 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0032c0043 0/0 22668 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0033c0053 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0034c0056 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0035c0055 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0036c0048 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0037c0058 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0038c0054 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0039c0042 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0040c0051 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0041c0033 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0042c0052 0/0 22668 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0043c0057 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0044c0032 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0045c0070 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0046c0044 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0047c0068 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0048c0065 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0049c0067 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0050c0069 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0051c0045 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0052c0046 0/0 22668 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0053c0077 0/0 22668 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 24340 40 6 11 19 1 3 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0001t0002 0/0 24339 6 0 0 6 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0001t0006 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0012t0001 0/0 24340 3 0 0 2 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0017t0001 0/0 24340 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0018t0002 0/0 24339 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0031t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0034t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0036t0002 0/0 24339 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0037t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0040t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0041t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0001c0062t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0003t0001 0/0 24340 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0003t0002 0/0 24339 15 0 2 11 1 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0004t0001 0/0 24340 13 13 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0004t0011 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0015t0002 0/0 24339 3 0 0 3 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0024t0001 0/0 24340 2 1 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0025t0001 0/0 24340 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0002c0039t0001 0/0 24340 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003c0002t0001 0/0 24340 35 2 9 19 1 4 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003c0002t0002 0/0 24339 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003c0066t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0003c0071t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0006t0001 0/1 24340 7 2 2 0 2 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0011t0003 0/0 24340 4 4 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0019t0001 0/0 24340 2 0 0 0 0 2 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0035t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0004c0038t0001 0/0 24340 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0005c0008t0001 0/0 24340 2 1 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0005c0008t0005 0/0 24340 3 3 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0005c0008t0007 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0005c0009t0003 0/0 24340 5 5 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0006c0005t0001 0/0 24340 10 5 1 0 0 4 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0007c0007t0001 0/0 24340 4 0 0 3 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0007c0007t0002 0/0 24339 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0008c0010t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0008c0010t0003 0/0 24340 4 3 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0009c0014t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0009c0014t0009 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0009c0014t0010 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0009c0047t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0010c0016t0004 0/0 24340 3 0 0 3 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0010c0064t0004 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0011c0013t0001 0/0 24340 3 3 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0012c0029t0001 0/0 24340 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0013c0023t0001 0/0 24340 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0014c0021t0001 0/0 24340 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0015c0022t0001 0/0 24340 2 2 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0016c0026t0001 0/0 24340 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0017c0020t0001 0/0 24340 2 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0018c0027t0001 0/0 24340 2 0 0 2 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0019c0028t0001 0/0 24340 2 0 1 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0020c0075t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0021c0073t0001 1/0 24340 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0022c0072t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0023c0074t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0024c0076t0003 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0025c0030t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0026c0049t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0027c0063t0002 0/0 24339 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0028c0050t0008 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0029c0061t0003 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0030c0060t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0031c0059t0002 0/0 24339 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0032c0043t0001 0/0 24340 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0033c0053t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0034c0056t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0035c0055t0002 0/0 24339 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0036c0048t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0037c0058t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0038c0054t0002 0/0 24339 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0039c0042t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0040c0051t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0041c0033t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0042c0052t0001 0/0 24340 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0043c0057t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0044c0032t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0045c0070t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0046c0044t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0047c0068t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0048c0065t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0049c0067t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0050c0069t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0051c0045t0012 0/0 24339 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0052c0046t0001 0/0 24340 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138
a0053c0077t0001 0/0 24340 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 copy fasta chr1 39199695 39492138

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0015 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0017 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0018 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0019 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0023 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0024 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0025 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0026 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0027 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0030 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0031 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0038 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0039 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0040 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0041 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0042 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0043 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0046 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0048 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0051 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0053 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0061 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0065 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0070 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0071 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0080 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0087 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0089 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0091 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0092 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0094 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0096 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0098 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0099 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0104 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0105 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0001g0107 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0002g0016 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0002g0032 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0002g0033 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0002g0034 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0002g0037 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0002g0088 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0001t0006g0066 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0012t0001g0058 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0012t0001g0059 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0012t0001g0060 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0017t0001g0028 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0017t0001g0029 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0018t0002g0036 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0018t0002g0047 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0031t0001g0106 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0034t0001g0090 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0036t0002g0035 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0037t0001g0095 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0040t0001g0014 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0041t0001g0072 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0001c0062t0001g0006 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0001g0186 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0001g0187 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0044 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0093 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0113 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0127 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0180 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0181 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0182 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0183 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0184 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0185 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0188 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0228 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0230 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0231 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0003t0002g0246 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0009 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0010 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0011 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0012 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0193 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0195 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0196 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0197 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0199 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0202 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0204 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0223 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0001g0224 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0004t0011g0194 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0015t0002g0112 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0015t0002g0172 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0015t0002g0175 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0024t0001g0198 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0024t0001g0203 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0025t0001g0001 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0025t0001g0191 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0002c0039t0001g0073 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0108 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0109 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0110 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0111 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0114 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0115 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0118 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0119 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0121 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0122 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0124 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0125 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0126 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0128 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0131 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0134 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0135 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0138 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0139 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0142 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0143 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0146 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0147 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0148 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0149 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0150 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0151 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0152 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0153 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0154 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0155 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0156 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0159 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0160 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0001g0161 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0002t0002g0137 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0066t0001g0117 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0003c0071t0001g0120 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0006t0001g0049 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0006t0001g0062 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0006t0001g0069 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0006t0001g0074 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0006t0001g0075 0/1 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0006t0001g0077 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0006t0001g0083 0/0 1 0 0 0 1 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0011t0003g0167 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0011t0003g0169 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0011t0003g0170 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0011t0003g0171 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0019t0001g0050 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0019t0001g0052 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0035t0001g0063 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0004c0038t0001g0084 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0008t0001g0207 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0008t0001g0210 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0008t0005g0162 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0008t0005g0163 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0008t0005g0164 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0008t0007g0166 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0009t0003g0214 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0009t0003g0215 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0009t0003g0216 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0009t0003g0217 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0005c0009t0003g0218 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0234 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0235 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0236 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0237 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0238 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0239 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0240 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0242 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0243 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0006c0005t0001g0244 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0007c0007t0001g0056 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0007c0007t0001g0081 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0007c0007t0001g0082 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0007c0007t0001g0101 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0007c0007t0002g0054 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0007c0007t0002g0057 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0008c0010t0001g0208 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0008c0010t0003g0213 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0008c0010t0003g0219 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0008c0010t0003g0220 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0008c0010t0003g0221 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0009c0014t0001g0190 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0009c0014t0009g0192 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0009c0014t0010g0225 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0009c0047t0001g0189 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0010c0016t0004g0136 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0010c0016t0004g0140 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0010c0016t0004g0145 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0010c0064t0004g0133 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0011c0013t0001g0076 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0011c0013t0001g0078 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0011c0013t0001g0079 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0012c0029t0001g0165 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0012c0029t0001g0212 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0013c0023t0001g0003 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0013c0023t0001g0004 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0014c0021t0001g0226 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0014c0021t0001g0227 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0015c0022t0001g0005 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0015c0022t0001g0007 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0016c0026t0001g0173 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0016c0026t0001g0174 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0017c0020t0001g0085 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0017c0020t0001g0086 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0018c0027t0001g0157 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0018c0027t0001g0158 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0019c0028t0001g0130 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0019c0028t0001g0132 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0020c0075t0001g0211 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0021c0073t0001g0013 1/0 1 0 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0022c0072t0001g0209 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0023c0074t0001g0206 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0024c0076t0003g0222 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0025c0030t0001g0067 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0026c0049t0001g0002 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0027c0063t0002g0229 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0028c0050t0008g0233 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0029c0061t0003g0232 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0030c0060t0001g0241 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0031c0059t0002g0177 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0032c0043t0001g0064 0/0 1 0 0 0 0 1 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0033c0053t0001g0200 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0034c0056t0001g0176 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0035c0055t0002g0179 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0036c0048t0001g0008 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0037c0058t0001g0245 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0038c0054t0002g0178 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0039c0042t0001g0021 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0040c0051t0001g0205 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0041c0033t0001g0055 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0042c0052t0001g0201 0/0 1 1 0 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0043c0057t0001g0168 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0044c0032t0001g0102 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0045c0070t0001g0144 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0046c0044t0001g0100 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0047c0068t0001g0129 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0048c0065t0001g0141 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0049c0067t0001g0116 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0050c0069t0001g0123 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0051c0045t0012g0022 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0052c0046t0001g0068 0/0 1 0 1 0 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
a0053c0077t0001g0020 0/0 1 0 0 1 0 0 MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0004 c0006 t0001 g0074 EUR GBR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00140 hp2 a0001 c0001 t0001 g0065 EUR GBR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00280 hp1 a0003 c0002 t0001 g0155 EUR FIN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00280 hp2 a0004 c0006 t0001 g0083 EUR FIN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00438 hp1 a0001 c0001 t0001 g0019 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00438 hp2 a0002 c0003 t0002 g0231 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00544 hp1 a0003 c0002 t0001 g0139 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00544 hp2 a0001 c0018 t0002 g0036 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00558 hp1 a0001 c0001 t0002 g0088 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00558 hp2 a0010 c0016 t0004 g0140 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00597 hp1 a0002 c0003 t0002 g0044 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00597 hp2 a0001 c0001 t0002 g0034 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00609 hp1 a0010 c0064 t0004 g0133 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00609 hp2 a0001 c0018 t0002 g0047 EAS CHS MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00639 hp1 a0019 c0028 t0001 g0130 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00639 hp2 a0002 c0024 t0001 g0198 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00642 hp1 a0005 c0008 t0001 g0207 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00642 hp2 a0003 c0002 t0001 g0110 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00733 hp1 a0001 c0001 t0001 g0043 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00733 hp2 a0045 c0070 t0001 g0144 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00735 hp1 a0001 c0001 t0001 g0030 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00735 hp2 a0003 c0002 t0001 g0111 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00741 hp1 a0003 c0002 t0001 g0122 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG00741 hp2 a0001 c0001 t0001 g0053 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01069 hp1 a0052 c0046 t0001 g0068 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01069 hp2 a0009 c0047 t0001 g0189 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01081 hp1 a0035 c0055 t0002 g0179 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01081 hp2 a0001 c0001 t0001 g0070 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01099 hp1 a0004 c0006 t0001 g0077 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01099 hp2 a0003 c0002 t0001 g0146 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01106 hp1 a0006 c0005 t0001 g0237 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01106 hp2 a0041 c0033 t0001 g0055 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01109 hp1 a0004 c0006 t0001 g0062 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01109 hp2 a0008 c0010 t0003 g0213 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01167 hp1 a0004 c0035 t0001 g0063 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01167 hp2 a0002 c0003 t0002 g0180 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01243 hp1 a0043 c0057 t0001 g0168 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01243 hp2 a0037 c0058 t0001 g0245 AMR PUR MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01261 hp1 a0003 c0002 t0001 g0124 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01261 hp2 a0001 c0001 t0001 g0018 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01346 hp1 a0001 c0001 t0001 g0041 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01346 hp2 a0002 c0003 t0002 g0181 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01361 hp1 a0001 c0001 t0001 g0039 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01361 hp2 a0003 c0002 t0001 g0150 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01433 hp1 a0017 c0020 t0001 g0086 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01433 hp2 a0049 c0067 t0001 g0116 AMR CLM MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01884 hp1 a0002 c0004 t0001 g0224 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01884 hp2 a0023 c0074 t0001 g0206 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01952 hp1 a0003 c0002 t0001 g0121 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01952 hp2 a0001 c0001 t0001 g0042 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01981 hp1 a0001 c0001 t0001 g0048 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG01981 hp2 a0003 c0002 t0001 g0149 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02004 hp1 a0003 c0002 t0001 g0153 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02004 hp2 a0001 c0001 t0001 g0096 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02015 hp1 a0003 c0002 t0001 g0142 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02015 hp2 a0044 c0032 t0001 g0102 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02040 hp1 a0001 c0001 t0001 g0105 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02040 hp2 a0016 c0026 t0001 g0173 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02055 hp1 a0001 c0001 t0001 g0091 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02055 hp2 a0004 c0011 t0003 g0167 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02071 hp1 a0002 c0003 t0002 g0228 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02071 hp2 a0001 c0017 t0001 g0029 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02074 hp1 a0001 c0001 t0001 g0017 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02074 hp2 a0003 c0002 t0001 g0126 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02129 hp1 a0003 c0066 t0001 g0117 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02129 hp2 a0001 c0012 t0001 g0058 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02132 hp1 a0007 c0007 t0002 g0054 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02132 hp2 a0002 c0015 t0002 g0175 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02135 hp1 a0001 c0001 t0002 g0032 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02135 hp2 a0048 c0065 t0001 g0141 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02145 hp1 a0001 c0001 t0001 g0092 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02145 hp2 a0002 c0025 t0001 g0191 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02155 hp1 a0007 c0007 t0002 g0057 EAS CDX MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02155 hp2 a0002 c0003 t0002 g0182 EAS CDX MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02165 hp1 a0010 c0016 t0004 g0136 EAS CDX MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02165 hp2 a0002 c0003 t0002 g0230 EAS CDX MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02257 hp1 a0042 c0052 t0001 g0201 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02257 hp2 a0011 c0013 t0001 g0078 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02273 hp1 a0001 c0001 t0001 g0040 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02273 hp2 a0003 c0071 t0001 g0120 AMR PEL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02280 hp1 a0004 c0011 t0003 g0170 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02280 hp2 a0025 c0030 t0001 g0067 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02523 hp1 a0007 c0007 t0001 g0101 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02523 hp2 a0010 c0016 t0004 g0145 EAS KHV MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02572 hp1 a0006 c0005 t0001 g0235 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02572 hp2 a0015 c0022 t0001 g0007 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02602 hp1 a0003 c0002 t0001 g0108 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02602 hp2 a0006 c0005 t0001 g0243 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02615 hp1 a0022 c0072 t0001 g0209 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02615 hp2 a0001 c0037 t0001 g0095 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02647 hp1 a0002 c0004 t0001 g0196 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02647 hp2 a0006 c0005 t0001 g0234 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02683 hp1 a0019 c0028 t0001 g0132 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02683 hp2 a0004 c0019 t0001 g0050 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02717 hp1 a0002 c0004 t0001 g0204 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02717 hp2 a0020 c0075 t0001 g0211 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02723 hp1 a0002 c0004 t0001 g0197 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02723 hp2 a0001 c0001 t0001 g0071 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02738 hp1 a0003 c0002 t0001 g0147 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02738 hp2 a0017 c0020 t0001 g0085 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02809 hp1 a0003 c0002 t0001 g0154 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02809 hp2 a0002 c0024 t0001 g0203 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02818 hp1 a0002 c0004 t0001 g0199 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02818 hp2 a0005 c0008 t0001 g0210 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02886 hp1 a0001 c0041 t0001 g0072 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02886 hp2 a0002 c0004 t0001 g0009 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02895 hp1 a0005 c0008 t0007 g0166 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02895 hp2 a0002 c0004 t0001 g0202 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02896 hp1 a0014 c0021 t0001 g0226 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02896 hp2 a0002 c0004 t0001 g0193 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02897 hp1 a0014 c0021 t0001 g0227 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02897 hp2 a0002 c0004 t0011 g0194 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02922 hp1 a0030 c0060 t0001 g0241 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02922 hp2 a0002 c0004 t0001 g0012 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02965 hp1 a0028 c0050 t0008 g0233 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02965 hp2 a0005 c0008 t0005 g0162 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02976 hp1 a0005 c0009 t0003 g0217 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02976 hp2 a0006 c0005 t0001 g0239 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03041 hp1 a0009 c0014 t0010 g0225 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03041 hp2 a0001 c0001 t0001 g0098 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03098 hp1 a0011 c0013 t0001 g0076 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03098 hp2 a0005 c0009 t0003 g0218 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03130 hp1 a0001 c0001 t0001 g0061 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03130 hp2 a0009 c0014 t0001 g0190 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03195 hp1 a0001 c0034 t0001 g0090 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03195 hp2 a0029 c0061 t0003 g0232 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03209 hp1 a0004 c0006 t0001 g0069 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03209 hp2 a0008 c0010 t0003 g0221 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03239 hp1 a0007 c0007 t0001 g0056 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03239 hp2 a0006 c0005 t0001 g0242 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03453 hp1 a0008 c0010 t0003 g0220 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03453 hp2 a0013 c0023 t0001 g0004 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03486 hp1 a0011 c0013 t0001 g0079 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03486 hp2 a0002 c0004 t0001 g0223 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03490 hp1 a0003 c0002 t0001 g0151 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03490 hp2 a0004 c0038 t0001 g0084 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03491 hp1 a0001 c0001 t0001 g0099 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03491 hp2 a0002 c0003 t0002 g0246 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03516 hp1 a0008 c0010 t0003 g0219 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03516 hp2 a0006 c0005 t0001 g0238 AFR ESN MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03540 hp1 a0033 c0053 t0001 g0200 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03540 hp2 a0003 c0002 t0001 g0115 AFR GWD MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03579 hp1 a0009 c0014 t0009 g0192 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03579 hp2 a0005 c0009 t0003 g0216 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03704 hp1 a0001 c0012 t0001 g0060 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03704 hp2 a0032 c0043 t0001 g0064 SAS PJL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03927 hp1 a0001 c0001 t0001 g0080 SAS BEB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03927 hp2 a0003 c0002 t0001 g0109 SAS BEB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG04115 hp1 a0006 c0005 t0001 g0244 SAS STU MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG04115 hp2 a0004 c0019 t0001 g0052 SAS STU MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG04204 hp1 a0006 c0005 t0001 g0236 SAS STU MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG04204 hp2 a0001 c0001 t0001 g0015 SAS STU MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18522 hp1 a0001 c0040 t0001 g0014 AFR YRI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18522 hp2 a0015 c0022 t0001 g0005 AFR YRI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18906 hp1 a0005 c0009 t0003 g0214 AFR YRI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18906 hp2 a0002 c0004 t0001 g0195 AFR YRI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18939 hp1 a0001 c0001 t0001 g0026 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18939 hp2 a0003 c0002 t0001 g0156 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18942 hp1 a0003 c0002 t0001 g0128 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18942 hp2 a0001 c0001 t0001 g0045 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18943 hp1 a0001 c0001 t0001 g0104 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18943 hp2 a0003 c0002 t0001 g0134 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18953 hp1 a0001 c0001 t0002 g0033 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18953 hp2 a0002 c0003 t0001 g0186 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18954 hp1 a0001 c0012 t0001 g0059 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18954 hp2 a0003 c0002 t0001 g0161 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18960 hp1 a0007 c0007 t0001 g0081 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18960 hp2 a0003 c0002 t0001 g0125 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18962 hp1 a0039 c0042 t0001 g0021 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18962 hp2 a0002 c0003 t0002 g0093 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18966 hp1 a0016 c0026 t0001 g0174 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18966 hp2 a0003 c0002 t0001 g0138 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18969 hp1 a0031 c0059 t0002 g0177 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18969 hp2 a0001 c0001 t0001 g0097 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18971 hp1 a0001 c0017 t0001 g0028 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18971 hp2 a0047 c0068 t0001 g0129 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18973 hp1 a0001 c0001 t0001 g0046 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18973 hp2 a0018 c0027 t0001 g0158 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18974 hp1 a0003 c0002 t0001 g0152 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18974 hp2 a0051 c0045 t0012 g0022 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18975 hp1 a0046 c0044 t0001 g0100 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18975 hp2 a0003 c0002 t0001 g0148 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18980 hp1 a0001 c0001 t0001 g0107 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18980 hp2 a0003 c0002 t0001 g0159 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18981 hp1 a0038 c0054 t0002 g0178 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18981 hp2 a0001 c0001 t0001 g0024 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18983 hp1 a0034 c0056 t0001 g0176 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18983 hp2 a0001 c0031 t0001 g0106 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18986 hp1 a0002 c0003 t0002 g0185 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18986 hp2 a0001 c0001 t0001 g0031 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18987 hp1 a0002 c0015 t0002 g0112 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18987 hp2 a0053 c0077 t0001 g0020 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18988 hp1 a0001 c0001 t0001 g0038 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18988 hp2 a0002 c0003 t0001 g0187 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18990 hp1 a0001 c0001 t0001 g0089 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18990 hp2 a0003 c0002 t0002 g0137 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18995 hp1 a0001 c0036 t0002 g0035 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18995 hp2 a0003 c0002 t0001 g0114 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18999 hp1 a0001 c0001 t0002 g0037 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA18999 hp2 a0050 c0069 t0001 g0123 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19000 hp1 a0001 c0001 t0001 g0103 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19000 hp2 a0003 c0002 t0001 g0160 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19002 hp1 a0001 c0001 t0001 g0094 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19002 hp2 a0027 c0063 t0002 g0229 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19010 hp1 a0040 c0051 t0001 g0205 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19010 hp2 a0001 c0001 t0001 g0023 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19011 hp1 a0003 c0002 t0001 g0131 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19011 hp2 a0002 c0015 t0002 g0172 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19030 hp1 a0036 c0048 t0001 g0008 AFR LWK MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19030 hp2 a0001 c0062 t0001 g0006 AFR LWK MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19043 hp1 a0005 c0008 t0005 g0163 AFR LWK MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19043 hp2 a0008 c0010 t0001 g0208 AFR LWK MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19080 hp1 a0002 c0003 t0002 g0113 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19080 hp2 a0007 c0007 t0001 g0082 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19083 hp1 a0001 c0001 t0002 g0016 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19083 hp2 a0003 c0002 t0001 g0118 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19084 hp1 a0003 c0002 t0001 g0135 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19084 hp2 a0002 c0003 t0002 g0184 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19085 hp1 a0001 c0001 t0001 g0027 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19085 hp2 a0018 c0027 t0001 g0157 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19086 hp1 a0002 c0003 t0002 g0127 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19086 hp2 a0001 c0001 t0001 g0087 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19088 hp1 a0003 c0002 t0001 g0143 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19088 hp2 a0002 c0003 t0002 g0183 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19091 hp1 a0003 c0002 t0001 g0119 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19091 hp2 a0001 c0001 t0001 g0025 EAS JPT MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19240 hp1 a0012 c0029 t0001 g0165 AFR YRI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA19240 hp2 a0001 c0001 t0001 g0051 AFR YRI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA20129 hp1 a0002 c0004 t0001 g0011 AFR ASW MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA20129 hp2 a0026 c0049 t0001 g0002 AFR ASW MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA20805 hp1 a0002 c0039 t0001 g0073 EUR TSI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA20805 hp2 a0002 c0003 t0002 g0188 EUR TSI MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02109 hp1 a0013 c0023 t0001 g0003 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02109 hp2 a0004 c0011 t0003 g0171 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02486 hp1 a0002 c0004 t0001 g0010 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG02486 hp2 a0004 c0006 t0001 g0049 AFR ACB MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03471 hp1 a0005 c0009 t0003 g0215 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG03471 hp2 a0002 c0025 t0001 g0001 AFR MSL MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG06807 hp1 a0004 c0011 t0003 g0169 AFR USA MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
HG06807 hp2 a0012 c0029 t0001 g0212 AFR USA MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA20300 hp1 a0005 c0008 t0005 g0164 AFR USA MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA20300 hp2 a0006 c0005 t0001 g0240 AFR USA MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA21309 hp1 a0024 c0076 t0003 g0222 AFR LWK MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
NA21309 hp2 a0001 c0001 t0006 g0066 AFR LWK MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
homoSapiens_chm13v2 hp1 a0004 c0006 t0001 g0075 REF REF MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138
homoSapiens_grch38 hp1 a0021 c0073 t0001 g0013 REF REF MACF1_chr1_39199695_39492138 MACF1 chr1 39199695 39492138

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
chr1:39205093 G
G
 T
T
 1 a0053
a0053
 1 NA18987.hp2
NA18987.hp2
 missense_variant MODERATE c.71G>T
c.71G>T
 p.Gly24Val
p.Gly24Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/101 399/24340 71/22668 24/7555 chr1 39205093
chr1:39205095 G
G
 T
T
 1 a0053
a0053
 1 NA18987.hp2
NA18987.hp2
 missense_variant MODERATE c.73G>T
c.73G>T
 p.Val25Phe
p.Val25Phe
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/101 401/24340 73/22668 25/7555 chr1 39205095
chr1:39251894 T
T
 C
C
 45 a0001
a0002
a0003
others(42): Show 
a0001
a0002
a0003
a0004
a0006
a0007
a0009
a0010
a0011
a0013
a0014
a0015
a0016
a0017
a0018
a0019
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0032
a0033
a0034
a0035
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0048
a0049
a0050
a0051
a0052
a0053
 223 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(220): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.310T>C
c.310T>C
 p.Cys104Arg
p.Cys104Arg
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/101 638/24340 310/22668 104/7555 chr1 39251894
chr1:39292767 G
G
 T
T
 1 a0024
a0024
 1 NA21309.hp1
NA21309.hp1
 missense_variant&splice_region_variant MODERATE c.1916G>T
c.1916G>T
 p.Gly639Val
p.Gly639Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 17/101 2244/24340 1916/22668 639/7555 chr1 39292767
chr1:39293567 A
A
 C
C
 1 a0020
a0020
 1 HG02717.hp2
HG02717.hp2
 missense_variant MODERATE c.2102A>C
c.2102A>C
 p.Tyr701Ser
p.Tyr701Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/101 2430/24340 2102/22668 701/7555 chr1 39293567
chr1:39297693 G
G
 T
T
 1 a0019
a0019
 2 HG00639.hp1
HG02683.hp1
HG00639.hp1
HG02683.hp1
 missense_variant MODERATE c.2429G>T
c.2429G>T
 p.Cys810Phe
p.Cys810Phe
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/101 2757/24340 2429/22668 810/7555 chr1 39297693
chr1:39310885 G
G
 A
A
 1 a0025
a0025
 1 HG02280.hp2
HG02280.hp2
 missense_variant MODERATE c.3155G>A
c.3155G>A
 p.Arg1052Gln
p.Arg1052Gln
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/101 3483/24340 3155/22668 1052/7555 chr1 39310885
chr1:39315586 A
A
 T
T
 1 a0052
a0052
 1 HG01069.hp1
HG01069.hp1
 missense_variant MODERATE c.3344A>T
c.3344A>T
 p.His1115Leu
p.His1115Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 27/101 3672/24340 3344/22668 1115/7555 chr1 39315586
chr1:39317353 A
A
 T
T
 2 a0013
a0026
a0013
a0026
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 missense_variant MODERATE c.3728A>T
c.3728A>T
 p.Lys1243Ile
p.Lys1243Ile
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/101 4056/24340 3728/22668 1243/7555 chr1 39317353
chr1:39327259 A
A
 G
G
 1 a0051
a0051
 1 NA18974.hp2
NA18974.hp2
 missense_variant MODERATE c.4520A>G
c.4520A>G
 p.Asn1507Ser
p.Asn1507Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/101 4848/24340 4520/22668 1507/7555 chr1 39327259
chr1:39331383 A
A
 G
G
 11 a0003
a0007
a0010
others(8): Show 
a0003
a0007
a0010
a0018
a0019
a0045
a0046
a0047
a0048
a0049
a0050
 58 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(55): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02273.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03239.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19080.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 missense_variant MODERATE c.4795A>G
c.4795A>G
 p.Ile1599Val
p.Ile1599Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 5123/24340 4795/22668 1599/7555 chr1 39331383
chr1:39331819 G
G
 A
A
 1 a0010
a0010
 4 HG00558.hp2
HG00609.hp1
HG02165.hp1
others(1): Show 
HG00558.hp2
HG00609.hp1
HG02165.hp1
HG02523.hp2
 missense_variant MODERATE c.5231G>A
c.5231G>A
 p.Arg1744Gln
p.Arg1744Gln
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 5559/24340 5231/22668 1744/7555 chr1 39331819
chr1:39332041 C
C
 T
T
 1 a0027
a0027
 1 NA19002.hp2
NA19002.hp2
 missense_variant MODERATE c.5453C>T
c.5453C>T
 p.Thr1818Met
p.Thr1818Met
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 5781/24340 5453/22668 1818/7555 chr1 39332041
chr1:39332749 G
G
 A
A
 1 a0028
a0028
 1 HG02965.hp1
HG02965.hp1
 missense_variant MODERATE c.6161G>A
c.6161G>A
 p.Arg2054Gln
p.Arg2054Gln
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6489/24340 6161/22668 2054/7555 chr1 39332749
chr1:39332761 C
C
 G
G
 1 a0030
a0030
 1 HG02922.hp1
HG02922.hp1
 missense_variant MODERATE c.6173C>G
c.6173C>G
 p.Thr2058Ser
p.Thr2058Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6501/24340 6173/22668 2058/7555 chr1 39332761
chr1:39332761 C
C
 T
T
 1 a0029
a0029
 1 HG03195.hp2
HG03195.hp2
 missense_variant MODERATE c.6173C>T
c.6173C>T
 p.Thr2058Ile
p.Thr2058Ile
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6501/24340 6173/22668 2058/7555 chr1 39332761
chr1:39332901 G
G
 T
T
 1 a0031
a0031
 1 NA18969.hp1
NA18969.hp1
 missense_variant MODERATE c.6313G>T
c.6313G>T
 p.Val2105Leu
p.Val2105Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6641/24340 6313/22668 2105/7555 chr1 39332901
chr1:39333163 T
T
 C
C
 1 a0018
a0018
 2 NA18973.hp2
NA19085.hp2
NA18973.hp2
NA19085.hp2
 missense_variant MODERATE c.6575T>C
c.6575T>C
 p.Ile2192Thr
p.Ile2192Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6903/24340 6575/22668 2192/7555 chr1 39333163
chr1:39333168 C
C
 A
A
 1 a0044
a0044
 1 HG02015.hp2
HG02015.hp2
 missense_variant MODERATE c.6580C>A
c.6580C>A
 p.Pro2194Thr
p.Pro2194Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6908/24340 6580/22668 2194/7555 chr1 39333168
chr1:39333865 C
C
 T
T
 1 a0032
a0032
 1 HG03704.hp2
HG03704.hp2
 missense_variant MODERATE c.7277C>T
c.7277C>T
 p.Ser2426Leu
p.Ser2426Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 7605/24340 7277/22668 2426/7555 chr1 39333865
chr1:39334015 C
C
 G
G
 2 a0012
a0023
a0012
a0023
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 missense_variant MODERATE c.7427C>G
c.7427C>G
 p.Ala2476Gly
p.Ala2476Gly
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 7755/24340 7427/22668 2476/7555 chr1 39334015
chr1:39334219 A
A
 T
T
 1 a0043
a0043
 1 HG01243.hp1
HG01243.hp1
 missense_variant MODERATE c.7631A>T
c.7631A>T
 p.His2544Leu
p.His2544Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 7959/24340 7631/22668 2544/7555 chr1 39334219
chr1:39334240 C
C
 T
T
 3 a0006
a0014
a0030
a0006
a0014
a0030
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 missense_variant MODERATE c.7652C>T
c.7652C>T
 p.Thr2551Met
p.Thr2551Met
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 7980/24340 7652/22668 2551/7555 chr1 39334240
chr1:39334532 A
A
 C
C
 1 a0033
a0033
 1 HG03540.hp1
HG03540.hp1
 missense_variant MODERATE c.7944A>C
c.7944A>C
 p.Glu2648Asp
p.Glu2648Asp
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 8272/24340 7944/22668 2648/7555 chr1 39334532
chr1:39334627 C
C
 T
T
 3 a0013
a0015
a0026
a0013
a0015
a0026
 5 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(2): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA20129.hp2
 missense_variant MODERATE c.8039C>T
c.8039C>T
 p.Thr2680Met
p.Thr2680Met
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 8367/24340 8039/22668 2680/7555 chr1 39334627
chr1:39334869 A
A
 G
G
 1 a0042
a0042
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.8281A>G
c.8281A>G
 p.Ile2761Val
p.Ile2761Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 8609/24340 8281/22668 2761/7555 chr1 39334869
chr1:39334886 C
C
 A
A
 1 a0041
a0041
 1 HG01106.hp2
HG01106.hp2
 missense_variant MODERATE c.8298C>A
c.8298C>A
 p.Phe2766Leu
p.Phe2766Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 8626/24340 8298/22668 2766/7555 chr1 39334886
chr1:39335712 G
G
 A
A
 1 a0033
a0033
 1 HG03540.hp1
HG03540.hp1
 missense_variant MODERATE c.9124G>A
c.9124G>A
 p.Glu3042Lys
p.Glu3042Lys
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 9452/24340 9124/22668 3042/7555 chr1 39335712
chr1:39336009 A
A
 G
G
 1 a0045
a0045
 1 HG00733.hp2
HG00733.hp2
 missense_variant MODERATE c.9421A>G
c.9421A>G
 p.Arg3141Gly
p.Arg3141Gly
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 9749/24340 9421/22668 3141/7555 chr1 39336009
chr1:39336143 A
A
 C
C
 9 a0003
a0010
a0018
others(6): Show 
a0003
a0010
a0018
a0019
a0045
a0047
a0048
a0049
a0050
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 missense_variant MODERATE c.9555A>C
c.9555A>C
 p.Lys3185Asn
p.Lys3185Asn
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 9883/24340 9555/22668 3185/7555 chr1 39336143
chr1:39336496 A
A
 C
C
 1 a0017
a0017
 2 HG01433.hp1
HG02738.hp2
HG01433.hp1
HG02738.hp2
 missense_variant MODERATE c.9908A>C
c.9908A>C
 p.Lys3303Thr
p.Lys3303Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 10236/24340 9908/22668 3303/7555 chr1 39336496
chr1:39336611 G
G
 C
C
 1 a0046
a0046
 1 NA18975.hp1
NA18975.hp1
 missense_variant MODERATE c.10023G>C
c.10023G>C
 p.Lys3341Asn
p.Lys3341Asn
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 10351/24340 10023/22668 3341/7555 chr1 39336611
chr1:39357463 A
A
 G
G
 1 a0023
a0023
 1 HG01884.hp2
HG01884.hp2
 missense_variant MODERATE c.11513A>G
c.11513A>G
 p.Asn3838Ser
p.Asn3838Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 45/101 11841/24340 11513/22668 3838/7555 chr1 39357463
chr1:39357822 T
T
 C
C
 1 a0013
a0013
 2 HG02109.hp1
HG03453.hp2
HG02109.hp1
HG03453.hp2
 missense_variant MODERATE c.11872T>C
c.11872T>C
 p.Ser3958Pro
p.Ser3958Pro
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 45/101 12200/24340 11872/22668 3958/7555 chr1 39357822
chr1:39368154 A
A
 T
T
 1 a0040
a0040
 1 NA19010.hp1
NA19010.hp1
 missense_variant MODERATE c.12778A>T
c.12778A>T
 p.Asn4260Tyr
p.Asn4260Tyr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/101 13106/24340 12778/22668 4260/7555 chr1 39368154
chr1:39368161 A
A
 G
G
 1 a0050
a0050
 1 NA18999.hp2
NA18999.hp2
 missense_variant MODERATE c.12785A>G
c.12785A>G
 p.Glu4262Gly
p.Glu4262Gly
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/101 13113/24340 12785/22668 4262/7555 chr1 39368161
chr1:39370145 A
A
 G
G
 9 a0003
a0010
a0018
others(6): Show 
a0003
a0010
a0018
a0019
a0045
a0047
a0048
a0049
a0050
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 missense_variant MODERATE c.13054A>G
c.13054A>G
 p.Met4352Val
p.Met4352Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/101 13382/24340 13054/22668 4352/7555 chr1 39370145
chr1:39380320 C
C
 T
T
 1 a0047
a0047
 1 NA18971.hp2
NA18971.hp2
 missense_variant MODERATE c.13595C>T
c.13595C>T
 p.Thr4532Ile
p.Thr4532Ile
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/101 13923/24340 13595/22668 4532/7555 chr1 39380320
chr1:39380362 A
A
 G
G
 1 a0039
a0039
 1 NA18962.hp1
NA18962.hp1
 missense_variant MODERATE c.13637A>G
c.13637A>G
 p.Gln4546Arg
p.Gln4546Arg
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/101 13965/24340 13637/22668 4546/7555 chr1 39380362
chr1:39381979 G
G
 T
T
 1 a0034
a0034
 1 NA18983.hp1
NA18983.hp1
 missense_variant MODERATE c.13675G>T
c.13675G>T
 p.Val4559Phe
p.Val4559Phe
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/101 14003/24340 13675/22668 4559/7555 chr1 39381979
chr1:39382058 G
G
 A
A
 2 a0007
a0046
a0007
a0046
 7 HG02132.hp1
HG02155.hp1
HG02523.hp1
others(4): Show 
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG03239.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
 missense_variant MODERATE c.13754G>A
c.13754G>A
 p.Arg4585Gln
p.Arg4585Gln
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/101 14082/24340 13754/22668 4585/7555 chr1 39382058
chr1:39387968 A
A
 C
C
 1 a0035
a0035
 1 HG01081.hp1
HG01081.hp1
 missense_variant MODERATE c.15126A>C
c.15126A>C
 p.Gln5042His
p.Gln5042His
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/101 15454/24340 15126/22668 5042/7555 chr1 39387968
chr1:39388128 G
G
 A
A
 1 a0009
a0009
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 missense_variant MODERATE c.15286G>A
c.15286G>A
 p.Ala5096Thr
p.Ala5096Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/101 15614/24340 15286/22668 5096/7555 chr1 39388128
chr1:39388390 G
G
 A
A
 1 a0038
a0038
 1 NA18981.hp1
NA18981.hp1
 missense_variant MODERATE c.15548G>A
c.15548G>A
 p.Cys5183Tyr
p.Cys5183Tyr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/101 15876/24340 15548/22668 5183/7555 chr1 39388390
chr1:39432611 G
G
 A
A
 2 a0024
a0036
a0024
a0036
 2 NA19030.hp1
NA21309.hp1
NA19030.hp1
NA21309.hp1
 missense_variant MODERATE c.17414G>A
c.17414G>A
 p.Arg5805His
p.Arg5805His
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 67/101 17742/24340 17414/22668 5805/7555 chr1 39432611
chr1:39433086 G
G
 A
A
 1 a0048
a0048
 1 HG02135.hp2
HG02135.hp2
 missense_variant MODERATE c.17496G>A
c.17496G>A
 p.Met5832Ile
p.Met5832Ile
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 68/101 17824/24340 17496/22668 5832/7555 chr1 39433086
chr1:39434558 C
C
 T
T
 1 a0011
a0011
 3 HG02257.hp2
HG03098.hp1
HG03486.hp1
HG02257.hp2
HG03098.hp1
HG03486.hp1
 missense_variant MODERATE c.17710C>T
c.17710C>T
 p.Arg5904Trp
p.Arg5904Trp
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 69/101 18038/24340 17710/22668 5904/7555 chr1 39434558
chr1:39434568 T
T
 C
C
 1 a0022
a0022
 1 HG02615.hp1
HG02615.hp1
 missense_variant MODERATE c.17720T>C
c.17720T>C
 p.Ile5907Thr
p.Ile5907Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 69/101 18048/24340 17720/22668 5907/7555 chr1 39434568
chr1:39442277 A
A
 G
G
 1 a0008
a0008
 5 HG01109.hp2
HG03209.hp2
HG03453.hp1
others(2): Show 
HG01109.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp1
NA19043.hp2
 missense_variant MODERATE c.18905A>G
c.18905A>G
 p.Lys6302Arg
p.Lys6302Arg
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 76/101 19233/24340 18905/22668 6302/7555 chr1 39442277
chr1:39442834 G
G
 A
A
 31 a0002
a0003
a0005
others(28): Show 
a0002
a0003
a0005
a0006
a0008
a0009
a0010
a0012
a0016
a0018
a0019
a0020
a0022
a0023
a0024
a0027
a0028
a0029
a0030
a0031
a0033
a0034
a0035
a0038
a0040
a0042
a0045
a0047
a0048
a0049
a0050
 139 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(136): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 missense_variant MODERATE c.19225G>A
c.19225G>A
 p.Ala6409Thr
p.Ala6409Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 78/101 19553/24340 19225/22668 6409/7555 chr1 39442834
chr1:39444702 A
A
 G
G
 1 a0049
a0049
 1 HG01433.hp2
HG01433.hp2
 missense_variant MODERATE c.19472A>G
c.19472A>G
 p.Asn6491Ser
p.Asn6491Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/101 19800/24340 19472/22668 6491/7555 chr1 39444702
chr1:39448108 T
T
 C
C
 1 a0032
a0032
 1 HG03704.hp2
HG03704.hp2
 missense_variant MODERATE c.20044T>C
c.20044T>C
 p.Ser6682Pro
p.Ser6682Pro
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 83/101 20372/24340 20044/22668 6682/7555 chr1 39448108
chr1:39448691 G
G
 C
C
 40 a0002
a0003
a0004
others(37): Show 
a0002
a0003
a0004
a0005
a0006
a0008
a0009
a0010
a0012
a0013
a0014
a0015
a0018
a0019
a0020
a0022
a0023
a0024
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0033
a0034
a0035
a0036
a0037
a0038
a0040
a0042
a0043
a0045
a0047
a0048
a0049
a0050
a0052
 164 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(161): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.20186G>C
c.20186G>C
 p.Ser6729Thr
p.Ser6729Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/101 20514/24340 20186/22668 6729/7555 chr1 39448691
chr1:39453830 A
A
 G
G
 1 a0037
a0037
 1 HG01243.hp2
HG01243.hp2
 missense_variant MODERATE c.20866A>G
c.20866A>G
 p.Ile6956Val
p.Ile6956Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/101 21194/24340 20866/22668 6956/7555 chr1 39453830

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
chr1:39205094 T
T
 G
G
 1 a0053c0077
a0053c0077
 1 NA18987.hp2
NA18987.hp2
 synonymous_variant LOW c.72T>G
c.72T>G
 p.Gly24Gly
p.Gly24Gly
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/101 400/24340 72/22668 24/7555 chr1 39205094
chr1:39283249 G
G
 A
A
 27 a0001c0001
a0001c0012
a0001c0017
others(24): Show 
a0001c0001
a0001c0012
a0001c0017
a0001c0018
a0001c0031
a0001c0034
a0001c0036
a0001c0037
a0001c0040
a0001c0041
a0002c0039
a0004c0006
a0004c0019
a0004c0035
a0004c0038
a0007c0007
a0011c0013
a0017c0020
a0025c0030
a0032c0043
a0039c0042
a0041c0033
a0044c0032
a0046c0044
a0051c0045
a0052c0046
a0053c0077
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.756G>A
c.756G>A
 p.Gln252Gln
p.Gln252Gln
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 8/101 1084/24340 756/22668 252/7555 chr1 39283249
chr1:39295834 G
G
 C
C
 2 a0009c0014
a0009c0047
a0009c0014
a0009c0047
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 synonymous_variant LOW c.2307G>C
c.2307G>C
 p.Leu769Leu
p.Leu769Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/101 2635/24340 2307/22668 769/7555 chr1 39295834
chr1:39309573 C
C
 T
T
 2 a0009c0014
a0009c0047
a0009c0014
a0009c0047
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 synonymous_variant LOW c.2793C>T
c.2793C>T
 p.Val931Val
p.Val931Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 24/101 3121/24340 2793/22668 931/7555 chr1 39309573
chr1:39315686 G
G
 A
A
 1 a0014c0021
a0014c0021
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 synonymous_variant LOW c.3444G>A
c.3444G>A
 p.Leu1148Leu
p.Leu1148Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 27/101 3772/24340 3444/22668 1148/7555 chr1 39315686
chr1:39316391 G
G
 A
A
 1 a0001c0031
a0001c0031
 1 NA18983.hp2
NA18983.hp2
 splice_region_variant&synonymous_variant LOW c.3450G>A
c.3450G>A
 p.Lys1150Lys
p.Lys1150Lys
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 28/101 3778/24340 3450/22668 1150/7555 chr1 39316391
chr1:39317321 G
G
 A
A
 4 a0013c0023
a0015c0022
a0026c0049
others(1): Show 
a0013c0023
a0015c0022
a0026c0049
a0036c0048
 6 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(3): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 synonymous_variant LOW c.3696G>A
c.3696G>A
 p.Glu1232Glu
p.Glu1232Glu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/101 4024/24340 3696/22668 1232/7555 chr1 39317321
chr1:39332084 A
A
 G
G
 4 a0013c0023
a0015c0022
a0026c0049
others(1): Show 
a0013c0023
a0015c0022
a0026c0049
a0036c0048
 6 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(3): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 synonymous_variant LOW c.5496A>G
c.5496A>G
 p.Leu1832Leu
p.Leu1832Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 5824/24340 5496/22668 1832/7555 chr1 39332084
chr1:39332378 A
A
 G
G
 1 a0001c0062
a0001c0062
 1 NA19030.hp2
NA19030.hp2
 synonymous_variant LOW c.5790A>G
c.5790A>G
 p.Gln1930Gln
p.Gln1930Gln
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6118/24340 5790/22668 1930/7555 chr1 39332378
chr1:39333095 A
A
 G
G
 5 a0013c0023
a0015c0022
a0026c0049
others(2): Show 
a0013c0023
a0015c0022
a0026c0049
a0036c0048
a0037c0058
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 synonymous_variant LOW c.6507A>G
c.6507A>G
 p.Thr2169Thr
p.Thr2169Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 6835/24340 6507/22668 2169/7555 chr1 39333095
chr1:39333884 C
C
 T
T
 1 a0002c0015
a0002c0015
 3 HG02132.hp2
NA18987.hp1
NA19011.hp2
HG02132.hp2
NA18987.hp1
NA19011.hp2
 synonymous_variant LOW c.7296C>T
c.7296C>T
 p.Asp2432Asp
p.Asp2432Asp
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 7624/24340 7296/22668 2432/7555 chr1 39333884
chr1:39334007 T
T
 C
C
 11 a0002c0004
a0002c0024
a0002c0025
others(8): Show 
a0002c0004
a0002c0024
a0002c0025
a0005c0008
a0009c0014
a0009c0047
a0020c0075
a0022c0072
a0033c0053
a0040c0051
a0042c0052
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 synonymous_variant LOW c.7419T>C
c.7419T>C
 p.Asp2473Asp
p.Asp2473Asp
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 7747/24340 7419/22668 2473/7555 chr1 39334007
chr1:39334706 A
A
 T
T
 1 a0003c0071
a0003c0071
 1 HG02273.hp2
HG02273.hp2
 synonymous_variant LOW c.8118A>T
c.8118A>T
 p.Ser2706Ser
p.Ser2706Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/101 8446/24340 8118/22668 2706/7555 chr1 39334706
chr1:39340522 G
G
 A
A
 1 a0001c0034
a0001c0034
 1 HG03195.hp1
HG03195.hp1
 synonymous_variant LOW c.10236G>A
c.10236G>A
 p.Lys3412Lys
p.Lys3412Lys
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 39/101 10564/24340 10236/22668 3412/7555 chr1 39340522
chr1:39340938 C
C
 T
T
 69 a0001c0001
a0001c0012
a0001c0018
others(66): Show 
a0001c0001
a0001c0012
a0001c0018
a0001c0031
a0001c0034
a0001c0036
a0001c0037
a0001c0040
a0001c0041
a0001c0062
a0002c0003
a0002c0004
a0002c0015
a0002c0024
a0002c0025
a0002c0039
a0003c0002
a0003c0066
a0003c0071
a0004c0006
a0004c0011
a0004c0019
a0004c0035
a0004c0038
a0005c0008
a0006c0005
a0007c0007
a0009c0014
a0009c0047
a0010c0016
a0010c0064
a0011c0013
a0013c0023
a0014c0021
a0015c0022
a0016c0026
a0017c0020
a0018c0027
a0019c0028
a0020c0075
a0022c0072
a0025c0030
a0026c0049
a0027c0063
a0028c0050
a0029c0061
a0030c0060
a0031c0059
a0032c0043
a0033c0053
a0034c0056
a0035c0055
a0036c0048
a0037c0058
a0038c0054
a0039c0042
a0040c0051
a0041c0033
a0042c0052
a0043c0057
a0044c0032
a0045c0070
a0046c0044
a0047c0068
a0048c0065
a0049c0067
a0050c0069
a0051c0045
a0052c0046
 228 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(225): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.10566C>T
c.10566C>T
 p.Cys3522Cys
p.Cys3522Cys
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/101 10894/24340 10566/22668 3522/7555 chr1 39340938
chr1:39347150 C
C
 A
A
 69 a0001c0001
a0001c0012
a0001c0018
others(66): Show 
a0001c0001
a0001c0012
a0001c0018
a0001c0031
a0001c0034
a0001c0036
a0001c0037
a0001c0040
a0001c0041
a0001c0062
a0002c0003
a0002c0004
a0002c0015
a0002c0024
a0002c0025
a0002c0039
a0003c0002
a0003c0066
a0003c0071
a0004c0006
a0004c0011
a0004c0019
a0004c0035
a0004c0038
a0005c0008
a0006c0005
a0007c0007
a0009c0014
a0009c0047
a0010c0016
a0010c0064
a0011c0013
a0013c0023
a0014c0021
a0015c0022
a0016c0026
a0017c0020
a0018c0027
a0019c0028
a0020c0075
a0022c0072
a0025c0030
a0026c0049
a0027c0063
a0028c0050
a0029c0061
a0030c0060
a0031c0059
a0032c0043
a0033c0053
a0034c0056
a0035c0055
a0036c0048
a0037c0058
a0038c0054
a0039c0042
a0040c0051
a0041c0033
a0042c0052
a0043c0057
a0044c0032
a0045c0070
a0046c0044
a0047c0068
a0048c0065
a0049c0067
a0050c0069
a0051c0045
a0052c0046
 228 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(225): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.10755C>A
c.10755C>A
 p.Ala3585Ala
p.Ala3585Ala
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/101 11083/24340 10755/22668 3585/7555 chr1 39347150
chr1:39350874 G
G
 A
A
 3 a0001c0012
a0017c0020
a0041c0033
a0001c0012
a0017c0020
a0041c0033
 6 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(3): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02738.hp2
HG03704.hp1
NA18954.hp1
 synonymous_variant LOW c.11055G>A
c.11055G>A
 p.Lys3685Lys
p.Lys3685Lys
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/101 11383/24340 11055/22668 3685/7555 chr1 39350874
chr1:39350940 G
G
 A
A
 1 a0004c0035
a0004c0035
 1 HG01167.hp1
HG01167.hp1
 synonymous_variant LOW c.11121G>A
c.11121G>A
 p.Ala3707Ala
p.Ala3707Ala
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/101 11449/24340 11121/22668 3707/7555 chr1 39350940
chr1:39372502 T
T
 C
C
 2 a0006c0005
a0030c0060
a0006c0005
a0030c0060
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 synonymous_variant LOW c.13119T>C
c.13119T>C
 p.Ser4373Ser
p.Ser4373Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/101 13447/24340 13119/22668 4373/7555 chr1 39372502
chr1:39380366 A
A
 G
G
 2 a0009c0014
a0009c0047
a0009c0014
a0009c0047
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 synonymous_variant LOW c.13641A>G
c.13641A>G
 p.Glu4547Glu
p.Glu4547Glu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/101 13969/24340 13641/22668 4547/7555 chr1 39380366
chr1:39385628 T
T
 C
C
 1 a0001c0036
a0001c0036
 1 NA18995.hp1
NA18995.hp1
 synonymous_variant LOW c.14043T>C
c.14043T>C
 p.Ala4681Ala
p.Ala4681Ala
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/101 14371/24340 14043/22668 4681/7555 chr1 39385628
chr1:39385763 C
C
 T
T
 1 a0009c0047
a0009c0047
 1 HG01069.hp2
HG01069.hp2
 synonymous_variant LOW c.14178C>T
c.14178C>T
 p.Thr4726Thr
p.Thr4726Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/101 14506/24340 14178/22668 4726/7555 chr1 39385763
chr1:39387318 T
T
 C
C
 1 a0001c0037
a0001c0037
 1 HG02615.hp2
HG02615.hp2
 synonymous_variant LOW c.14476T>C
c.14476T>C
 p.Leu4826Leu
p.Leu4826Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/101 14804/24340 14476/22668 4826/7555 chr1 39387318
chr1:39387491 T
T
 C
C
 3 a0004c0011
a0014c0021
a0043c0057
a0004c0011
a0014c0021
a0043c0057
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 synonymous_variant LOW c.14649T>C
c.14649T>C
 p.His4883His
p.His4883His
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/101 14977/24340 14649/22668 4883/7555 chr1 39387491
chr1:39387593 A
A
 G
G
 1 a0001c0041
a0001c0041
 1 HG02886.hp1
HG02886.hp1
 synonymous_variant LOW c.14751A>G
c.14751A>G
 p.Pro4917Pro
p.Pro4917Pro
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/101 15079/24340 14751/22668 4917/7555 chr1 39387593
chr1:39428011 C
C
 A
A
 2 a0001c0018
a0001c0036
a0001c0018
a0001c0036
 3 HG00544.hp2
HG00609.hp2
NA18995.hp1
HG00544.hp2
HG00609.hp2
NA18995.hp1
 synonymous_variant LOW c.16527C>A
c.16527C>A
 p.Val5509Val
p.Val5509Val
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/101 16855/24340 16527/22668 5509/7555 chr1 39428011
chr1:39429975 C
C
 A
A
 1 a0004c0038
a0004c0038
 1 HG03490.hp2
HG03490.hp2
 synonymous_variant LOW c.17037C>A
c.17037C>A
 p.Thr5679Thr
p.Thr5679Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 65/101 17365/24340 17037/22668 5679/7555 chr1 39429975
chr1:39442758 A
A
 C
C
 5 a0013c0023
a0015c0022
a0026c0049
others(2): Show 
a0013c0023
a0015c0022
a0026c0049
a0036c0048
a0037c0058
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 synonymous_variant LOW c.19149A>C
c.19149A>C
 p.Thr6383Thr
p.Thr6383Thr
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 78/101 19477/24340 19149/22668 6383/7555 chr1 39442758
chr1:39442908 G
G
 A
A
 1 a0002c0024
a0002c0024
 2 HG00639.hp2
HG02809.hp2
HG00639.hp2
HG02809.hp2
 synonymous_variant LOW c.19299G>A
c.19299G>A
 p.Gln6433Gln
p.Gln6433Gln
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 78/101 19627/24340 19299/22668 6433/7555 chr1 39442908
chr1:39452216 C
C
 A
A
 2 a0006c0005
a0030c0060
a0006c0005
a0030c0060
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 synonymous_variant LOW c.20479C>A
c.20479C>A
 p.Arg6827Arg
p.Arg6827Arg
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 86/101 20807/24340 20479/22668 6827/7555 chr1 39452216
chr1:39458414 G
G
 A
A
 1 a0010c0064
a0010c0064
 1 HG00609.hp1
HG00609.hp1
 synonymous_variant LOW c.21120G>A
c.21120G>A
 p.Arg7040Arg
p.Arg7040Arg
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 90/101 21448/24340 21120/22668 7040/7555 chr1 39458414
chr1:39459093 C
C
 A
A
 1 a0004c0019
a0004c0019
 2 HG02683.hp2
HG04115.hp2
HG02683.hp2
HG04115.hp2
 synonymous_variant LOW c.21204C>A
c.21204C>A
 p.Ser7068Ser
p.Ser7068Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 91/101 21532/24340 21204/22668 7068/7555 chr1 39459093
chr1:39484625 T
T
 C
C
 1 a0003c0066
a0003c0066
 1 HG02129.hp1
HG02129.hp1
 synonymous_variant LOW c.22306T>C
c.22306T>C
 p.Leu7436Leu
p.Leu7436Leu
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 100/101 22634/24340 22306/22668 7436/7555 chr1 39484625
chr1:39484705 C
C
 T
T
 7 a0002c0025
a0012c0029
a0013c0023
others(4): Show 
a0002c0025
a0012c0029
a0013c0023
a0015c0022
a0023c0074
a0026c0049
a0036c0048
 11 HG01884.hp2
HG02109.hp1
HG02145.hp2
others(8): Show 
HG01884.hp2
HG02109.hp1
HG02145.hp2
HG02572.hp2
HG03453.hp2
HG03471.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19240.hp1
NA20129.hp2
 synonymous_variant LOW c.22386C>T
c.22386C>T
 p.Ser7462Ser
p.Ser7462Ser
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 100/101 22714/24340 22386/22668 7462/7555 chr1 39484705
chr1:39485770 C
C
 T
T
 1 a0001c0040
a0001c0040
 1 NA18522.hp1
NA18522.hp1
 synonymous_variant LOW c.22644C>T
c.22644C>T
 p.Pro7548Pro
p.Pro7548Pro
 MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 22972/24340 22644/22668 7548/7555 chr1 39485770

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
chr1:39485838 C
C
 T
T
 1 a0005c0008t0005
a0005c0008t0005
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*44C>T
c.*44C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 44 chr1 39485838
chr1:39486070 TA
TA
 T
T
 12 a0001c0001t0002
a0001c0018t0002
a0001c0036t0002
others(9): Show 
a0001c0001t0002
a0001c0018t0002
a0001c0036t0002
a0002c0003t0002
a0002c0015t0002
a0003c0002t0002
a0007c0007t0002
a0027c0063t0002
a0031c0059t0002
a0035c0055t0002
a0038c0054t0002
a0051c0045t0012
 35 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(32): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp1
NA18962.hp2
NA18969.hp1
NA18974.hp2
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 3_prime_UTR_variant MODIFIER c.*288delA
c.*288delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 288 INFO_REALIGN_3_PRIME chr1 39486070
chr1:39486090 A
A
 G
G
 1 a0002c0004t0011
a0002c0004t0011
 1 HG02897.hp2
HG02897.hp2
 3_prime_UTR_variant MODIFIER c.*296A>G
c.*296A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 296 chr1 39486090
chr1:39486103 C
C
 T
T
 1 a0009c0014t0010
a0009c0014t0010
 1 HG03041.hp1
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*309C>T
c.*309C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 309 chr1 39486103
chr1:39486240 T
T
 G
G
 1 a0001c0001t0006
a0001c0001t0006
 1 NA21309.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*446T>G
c.*446T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 446 chr1 39486240
chr1:39486256 A
A
 G
G
 2 a0010c0016t0004
a0010c0064t0004
a0010c0016t0004
a0010c0064t0004
 4 HG00558.hp2
HG00609.hp1
HG02165.hp1
others(1): Show 
HG00558.hp2
HG00609.hp1
HG02165.hp1
HG02523.hp2
 3_prime_UTR_variant MODIFIER c.*462A>G
c.*462A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 462 chr1 39486256
chr1:39486799 A
A
 G
G
 1 a0009c0014t0009
a0009c0014t0009
 1 HG03579.hp1
HG03579.hp1
 3_prime_UTR_variant MODIFIER c.*1005A>G
c.*1005A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 1005 chr1 39486799
chr1:39486873 G
G
 A
A
 1 a0005c0008t0007
a0005c0008t0007
 1 HG02895.hp1
HG02895.hp1
 3_prime_UTR_variant MODIFIER c.*1079G>A
c.*1079G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 1079 chr1 39486873
chr1:39487073 G
G
 A
A
 17 a0001c0001t0002
a0001c0018t0002
a0001c0036t0002
others(14): Show 
a0001c0001t0002
a0001c0018t0002
a0001c0036t0002
a0002c0003t0002
a0002c0015t0002
a0003c0002t0002
a0004c0011t0003
a0005c0009t0003
a0007c0007t0002
a0008c0010t0003
a0024c0076t0003
a0027c0063t0002
a0028c0050t0008
a0029c0061t0003
a0031c0059t0002
a0035c0055t0002
a0038c0054t0002
 50 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(47): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA18953.hp1
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*1279G>A
c.*1279G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 1279 chr1 39487073
chr1:39487119 A
A
 G
G
 1 a0028c0050t0008
a0028c0050t0008
 1 HG02965.hp1
HG02965.hp1
 3_prime_UTR_variant MODIFIER c.*1325A>G
c.*1325A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 101/101 1325 chr1 39487119

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
chr1:39205667 G
G
 C
C
 8 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(5): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 8 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(5): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.109+536G>C
c.109+536G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39205667
chr1:39205791 TA
TA
 T
T
 241 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(238): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 241 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(238): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+670delA
c.109+670delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39205791
chr1:39205801 A
A
 T
T
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.109+670A>T
c.109+670A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39205801
chr1:39205801 AT
AT
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+679delT
c.109+679delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39205801
chr1:39205820 C
C
 A
A
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+689C>A
c.109+689C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39205820
chr1:39206026 G
G
 A
A
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.109+895G>A
c.109+895G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206026
chr1:39206141 A
A
 G
G
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.109+1010A>G
c.109+1010A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206141
chr1:39206167 C
C
 A
A
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+1036C>A
c.109+1036C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206167
chr1:39206362 A
A
 G
G
 1 a0001c0001t0001g0107
a0001c0001t0001g0107
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.109+1231A>G
c.109+1231A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206362
chr1:39206433 T
T
 G
G
 1 a0002c0015t0002g0112
a0002c0015t0002g0112
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.109+1302T>G
c.109+1302T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206433
chr1:39206668 G
G
 A
A
 1 a0002c0003t0002g0113
a0002c0003t0002g0113
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.109+1537G>A
c.109+1537G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206668
chr1:39206857 C
C
 G
G
 1 a0001c0031t0001g0106
a0001c0031t0001g0106
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.109+1726C>G
c.109+1726C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206857
chr1:39206873 T
T
 G
G
 48 a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
others(45): Show 
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.109+1742T>G
c.109+1742T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39206873
chr1:39206979 C
C
 CT
CT
 5 a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
others(2): Show 
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0018c0027t0001g0157
a0018c0027t0001g0158
 5 NA18954.hp2
NA18973.hp2
NA18980.hp2
others(2): Show 
NA18954.hp2
NA18973.hp2
NA18980.hp2
NA19000.hp2
NA19085.hp2
 intron_variant MODIFIER c.109+1862dupT
c.109+1862dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39206979
chr1:39206979 CT
CT
 C
C
 11 a0001c0040t0001g0014
a0001c0062t0001g0006
a0002c0025t0001g0001
others(8): Show 
a0001c0040t0001g0014
a0001c0062t0001g0006
a0002c0025t0001g0001
a0005c0008t0005g0162
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 11 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(8): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG02965.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.109+1862delT
c.109+1862delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39206979
chr1:39207110 A
A
 T
T
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.109+1979A>T
c.109+1979A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207110
chr1:39207162 G
G
 A
A
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.109+2031G>A
c.109+2031G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207162
chr1:39207171 G
G
 A
A
 1 a0002c0025t0001g0001
a0002c0025t0001g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.109+2040G>A
c.109+2040G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207171
chr1:39207258 TTTTC
TTTTC
 T
T
 17 a0001c0062t0001g0006
a0002c0003t0002g0228
a0002c0003t0002g0230
others(14): Show 
a0001c0062t0001g0006
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0027c0063t0002g0229
a0029c0061t0003g0232
a0036c0048t0001g0008
a0037c0058t0001g0245
 17 HG00438.hp2
HG01243.hp2
HG02071.hp1
others(14): Show 
HG00438.hp2
HG01243.hp2
HG02071.hp1
HG02109.hp1
HG02165.hp2
HG02486.hp1
HG02572.hp2
HG02922.hp2
HG03195.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19002.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.109+2151_109+2154d
others(6): Show 
c.109+2151_109+2154delCTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39207258
chr1:39207282 C
C
 CT
CT
 5 a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
others(2): Show 
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0044c0032t0001g0102
 5 HG02015.hp2
HG02040.hp1
NA18943.hp1
others(2): Show 
HG02015.hp2
HG02040.hp1
NA18943.hp1
NA18980.hp1
NA19000.hp1
 intron_variant MODIFIER c.109+2163dupT
c.109+2163dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39207282
chr1:39207300 C
C
 T
T
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.109+2169C>T
c.109+2169C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207300
chr1:39207358 G
G
 A
A
 1 a0012c0029t0001g0165
a0012c0029t0001g0165
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.109+2227G>A
c.109+2227G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207358
chr1:39207374 G
G
 A
A
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.109+2243G>A
c.109+2243G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207374
chr1:39207420 A
A
 T
T
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.109+2289A>T
c.109+2289A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207420
chr1:39207468 C
C
 T
T
 48 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(45): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 48 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(45): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+2337C>T
c.109+2337C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207468
chr1:39207484 T
T
 A
A
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.109+2353T>A
c.109+2353T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207484
chr1:39207767 C
C
 T
T
 2 a0009c0014t0010g0225
a0046c0044t0001g0100
a0009c0014t0010g0225
a0046c0044t0001g0100
 2 HG03041.hp1
NA18975.hp1
HG03041.hp1
NA18975.hp1
 intron_variant MODIFIER c.109+2636C>T
c.109+2636C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207767
chr1:39207811 T
T
 A
A
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.109+2680T>A
c.109+2680T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39207811
chr1:39208038 C
C
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.109+2907C>A
c.109+2907C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208038
chr1:39208084 G
G
 A
A
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.109+2953G>A
c.109+2953G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208084
chr1:39208132 C
C
 CA
CA
 7 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(4): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0025t0001g0191
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
 7 HG01069.hp2
HG02145.hp2
HG02486.hp1
others(4): Show 
HG01069.hp2
HG02145.hp2
HG02486.hp1
HG02886.hp2
HG03041.hp1
HG03130.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+3016dupA
c.109+3016dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39208132
chr1:39208132 CA
CA
 C
C
 5 a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
others(2): Show 
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0003c0002t0001g0156
 5 HG02004.hp2
HG03041.hp2
HG03491.hp1
others(2): Show 
HG02004.hp2
HG03041.hp2
HG03491.hp1
NA18939.hp2
NA18969.hp2
 intron_variant MODIFIER c.109+3016delA
c.109+3016delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39208132
chr1:39208159 T
T
 C
C
 1 a0006c0005t0001g0235
a0006c0005t0001g0235
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.109+3028T>C
c.109+3028T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208159
chr1:39208166 G
G
 GT
GT
 96 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(93): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0015t0002g0112
a0002c0039t0001g0073
a0003c0002t0001g0155
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 96 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(93): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+3047dupT
c.109+3047dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39208166
chr1:39208193 C
C
 T
T
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.109+3062C>T
c.109+3062C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208193
chr1:39208413 C
C
 T
T
 1 a0002c0004t0001g0224
a0002c0004t0001g0224
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.109+3282C>T
c.109+3282C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208413
chr1:39208502 G
G
 T
T
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.109+3371G>T
c.109+3371G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208502
chr1:39208594 C
C
 T
T
 1 a0002c0003t0002g0231
a0002c0003t0002g0231
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.109+3463C>T
c.109+3463C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208594
chr1:39208770 G
G
 A
A
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.109+3639G>A
c.109+3639G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208770
chr1:39208916 A
A
 G
G
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+3785A>G
c.109+3785A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39208916
chr1:39209126 C
C
 T
T
 1 a0002c0004t0001g0223
a0002c0004t0001g0223
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.109+3995C>T
c.109+3995C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39209126
chr1:39209300 G
G
 C
C
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.109+4169G>C
c.109+4169G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39209300
chr1:39209486 C
C
 T
T
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.109+4355C>T
c.109+4355C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39209486
chr1:39209511 G
G
 A
A
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.109+4380G>A
c.109+4380G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39209511
chr1:39209636 GT
GT
 G
G
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+4514delT
c.109+4514delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39209636
chr1:39209650 A
A
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.109+4519A>G
c.109+4519A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39209650
chr1:39209668 A
A
 G
G
 1 a0003c0002t0001g0154
a0003c0002t0001g0154
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.109+4537A>G
c.109+4537A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39209668
chr1:39209962 C
C
 T
T
 1 a0001c0037t0001g0095
a0001c0037t0001g0095
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.109+4831C>T
c.109+4831C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39209962
chr1:39210231 G
G
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.109+5100G>A
c.109+5100G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39210231
chr1:39210379 TA
TA
 T
T
 7 a0001c0001t0001g0094
a0001c0001t0001g0099
a0002c0003t0002g0188
others(4): Show 
a0001c0001t0001g0094
a0001c0001t0001g0099
a0002c0003t0002g0188
a0002c0004t0001g0204
a0002c0024t0001g0203
a0003c0002t0001g0153
a0028c0050t0008g0233
 7 HG02004.hp1
HG02717.hp1
HG02809.hp2
others(4): Show 
HG02004.hp1
HG02717.hp1
HG02809.hp2
HG02965.hp1
HG03491.hp1
NA19002.hp1
NA20805.hp2
 intron_variant MODIFIER c.109+5260delA
c.109+5260delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39210379
chr1:39210380 A
A
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+5249A>T
c.109+5249A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39210380
chr1:39210439 C
C
 G
G
 22 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(19): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
 22 HG00642.hp1
HG01109.hp2
HG01884.hp2
others(19): Show 
HG00642.hp1
HG01109.hp2
HG01884.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+5308C>G
c.109+5308C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39210439
chr1:39210446 C
C
 T
T
 2 a0028c0050t0008g0233
a0029c0061t0003g0232
a0028c0050t0008g0233
a0029c0061t0003g0232
 2 HG02965.hp1
HG03195.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.109+5315C>T
c.109+5315C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39210446
chr1:39210562 T
T
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+5431T>C
c.109+5431T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39210562
chr1:39210620 A
A
 G
G
 1 a0002c0003t0002g0093
a0002c0003t0002g0093
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.109+5489A>G
c.109+5489A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39210620
chr1:39210845 C
C
 A
A
 1 a0003c0002t0001g0114
a0003c0002t0001g0114
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.109+5714C>A
c.109+5714C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39210845
chr1:39211095 T
T
 G
G
 1 a0004c0011t0003g0167
a0004c0011t0003g0167
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.109+5964T>G
c.109+5964T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39211095
chr1:39211210 C
C
 T
T
 3 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
 3 HG02055.hp1
HG02145.hp1
HG03195.hp1
HG02055.hp1
HG02145.hp1
HG03195.hp1
 intron_variant MODIFIER c.109+6079C>T
c.109+6079C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39211210
chr1:39211518 C
C
 T
T
 4 a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0002g0088
others(1): Show 
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0002g0088
a0036c0048t0001g0008
 4 HG00558.hp1
NA18990.hp1
NA19030.hp1
others(1): Show 
HG00558.hp1
NA18990.hp1
NA19030.hp1
NA19086.hp2
 intron_variant MODIFIER c.109+6387C>T
c.109+6387C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39211518
chr1:39211519 G
G
 A
A
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.109+6388G>A
c.109+6388G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39211519
chr1:39211620 C
C
 T
T
 3 a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
 3 HG02040.hp1
NA18943.hp1
NA19000.hp1
HG02040.hp1
NA18943.hp1
NA19000.hp1
 intron_variant MODIFIER c.109+6489C>T
c.109+6489C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39211620
chr1:39211753 C
C
 T
T
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.109+6622C>T
c.109+6622C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39211753
chr1:39211981 T
T
 C
C
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.109+6850T>C
c.109+6850T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39211981
chr1:39211990 T
T
 TAATAGTG
others(310): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAA
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.109+6872_109+6873i
others(319): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39211990 T
T
 TAATAGTG
others(311): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAAA
 19 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(16): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0027c0063t0002g0229
a0029c0061t0003g0232
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
 19 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(16): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02155.hp2
HG02165.hp2
HG03195.hp2
HG03491.hp2
NA18953.hp2
NA18969.hp1
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.109+6872_109+6873i
others(320): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39211990 T
T
 TAATAGTG
others(312): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAAAA
 6 a0002c0003t0002g0228
a0002c0015t0002g0172
a0002c0015t0002g0175
others(3): Show 
a0002c0003t0002g0228
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0034c0056t0001g0176
 6 HG02040.hp2
HG02071.hp1
HG02132.hp2
others(3): Show 
HG02040.hp2
HG02071.hp1
HG02132.hp2
NA18966.hp1
NA18983.hp1
NA19011.hp2
 intron_variant MODIFIER c.109+6872_109+6873i
others(321): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39211990 T
T
 TAATAGTG
others(300): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAA
 3 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0047t0001g0189
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0047t0001g0189
 3 HG01069.hp2
HG03130.hp2
HG03579.hp1
HG01069.hp2
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.109+6872_109+6873i
others(309): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39211990 T
T
 TAATAGTG
others(308): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAA
 2 a0009c0014t0010g0225
a0024c0076t0003g0222
a0009c0014t0010g0225
a0024c0076t0003g0222
 2 HG03041.hp1
NA21309.hp1
HG03041.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+6872_109+6873i
others(317): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39211990 T
T
 TAATAGTG
others(309): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAA
 37 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(34): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 37 HG00639.hp2
HG01109.hp2
HG01884.hp1
others(34): Show 
HG00639.hp2
HG01109.hp2
HG01884.hp1
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.109+6872_109+6873i
others(318): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39211990 T
T
 TAATAGTG
others(310): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAA
 3 a0002c0025t0001g0191
a0005c0008t0001g0207
a0008c0010t0001g0208
a0002c0025t0001g0191
a0005c0008t0001g0207
a0008c0010t0001g0208
 3 HG00642.hp1
HG02145.hp2
NA19043.hp2
HG00642.hp1
HG02145.hp2
NA19043.hp2
 intron_variant MODIFIER c.109+6872_109+6873i
others(319): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39211990 T
T
 TAATAGTG
others(311): Show 
TAATAGTGGGTGATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAAA
 1 a0023c0074t0001g0206
a0023c0074t0001g0206
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.109+6872_109+6873i
others(320): Show 
c.109+6872_109+6873insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC
GAGGCCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG
AGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGA
GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG
TCTCAAAAAAAAAAAAAAAAAAAAAAAAATAGTGGGTGAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39211990
chr1:39212258 T
T
 G
G
 2 a0028c0050t0008g0233
a0029c0061t0003g0232
a0028c0050t0008g0233
a0029c0061t0003g0232
 2 HG02965.hp1
HG03195.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.109+7127T>G
c.109+7127T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39212258
chr1:39212438 A
A
 G
G
 15 a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
others(12): Show 
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
 15 HG01109.hp2
HG01884.hp2
HG02895.hp1
others(12): Show 
HG01109.hp2
HG01884.hp2
HG02895.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+7307A>G
c.109+7307A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39212438
chr1:39212716 G
G
 T
T
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.109+7585G>T
c.109+7585G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39212716
chr1:39213229 T
T
 C
C
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.109+8098T>C
c.109+8098T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39213229
chr1:39213318 A
A
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.109+8187A>G
c.109+8187A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39213318
chr1:39213396 A
A
 G
G
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.109+8265A>G
c.109+8265A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39213396
chr1:39213452 C
C
 T
T
 46 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(43): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 46 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(43): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+8321C>T
c.109+8321C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39213452
chr1:39213730 T
T
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.109+8599T>C
c.109+8599T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39213730
chr1:39214013 A
A
 G
G
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+8882A>G
c.109+8882A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39214013
chr1:39214082 G
G
 A
A
 1 a0044c0032t0001g0102
a0044c0032t0001g0102
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.109+8951G>A
c.109+8951G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39214082
chr1:39214100 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.109+8969C>T
c.109+8969C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39214100
chr1:39214116 G
G
 A
A
 1 a0003c0002t0001g0115
a0003c0002t0001g0115
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.109+8985G>A
c.109+8985G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39214116
chr1:39214765 T
T
 C
C
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.109+9634T>C
c.109+9634T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39214765
chr1:39215396 A
A
 G
G
 3 a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
 3 HG02572.hp2
NA18522.hp2
NA19030.hp2
HG02572.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.109+10265A>G
c.109+10265A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39215396
chr1:39215443 G
G
 GT
GT
 92 a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0003c0002t0001g0152
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+10326dupT
c.109+10326dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39215443
chr1:39215738 A
A
 C
C
 2 a0017c0020t0001g0085
a0017c0020t0001g0086
a0017c0020t0001g0085
a0017c0020t0001g0086
 2 HG01433.hp1
HG02738.hp2
HG01433.hp1
HG02738.hp2
 intron_variant MODIFIER c.109+10607A>C
c.109+10607A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39215738
chr1:39215986 T
T
 C
C
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.109+10855T>C
c.109+10855T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39215986
chr1:39216068 C
C
 A
A
 22 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(19): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
 22 HG00642.hp1
HG01109.hp2
HG01884.hp2
others(19): Show 
HG00642.hp1
HG01109.hp2
HG01884.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+10937C>A
c.109+10937C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39216068
chr1:39216154 TAAAG
TAAAG
 T
T
 44 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(41): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0039c0042t0001g0021
a0051c0045t0012g0022
a0053c0077t0001g0020
 44 HG00438.hp1
HG00544.hp2
HG00558.hp1
others(41): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02273.hp1
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03491.hp1
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18953.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+11027_109+1103
others(8): Show 
c.109+11027_109+11030delGAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39216154
chr1:39216218 G
G
 T
T
 1 a0001c0018t0002g0047
a0001c0018t0002g0047
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.109+11087G>T
c.109+11087G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39216218
chr1:39216585 C
C
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+11454C>T
c.109+11454C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39216585
chr1:39216678 C
C
 CT
CT
 103 a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0023
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0151
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 103 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(100): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp1
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+11558dupT
c.109+11558dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39216678
chr1:39216678 C
C
 CTT
CTT
 8 a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
others(5): Show 
a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
a0043c0057t0001g0168
 8 HG01243.hp1
HG02074.hp1
HG02572.hp2
others(5): Show 
HG01243.hp1
HG02074.hp1
HG02572.hp2
NA18522.hp2
NA18942.hp2
NA18969.hp2
NA18973.hp1
NA19030.hp2
 intron_variant MODIFIER c.109+11557_109+1155
others(6): Show 
c.109+11557_109+11558dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39216678
chr1:39216750 T
T
 TAAAAGTG
others(324): Show 
TAAAAGTGCTTGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC
ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA
TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA
GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG
GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT
CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0003c0002t0001g0111
a0003c0002t0001g0111
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.109+11633_109+1163
others(335): Show 
c.109+11633_109+11634insGGCCGGGCGCGGTGGCTCACGCCTGT
AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA
TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC
AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG
GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG
AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC
GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTGCT
TGGAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39216750
chr1:39216778 A
A
 C
C
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.109+11647A>C
c.109+11647A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39216778
chr1:39216945 A
A
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+11814A>G
c.109+11814A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39216945
chr1:39216990 A
A
 T
T
 1 a0004c0038t0001g0084
a0004c0038t0001g0084
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.109+11859A>T
c.109+11859A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39216990
chr1:39217015 G
G
 A
A
 2 a0028c0050t0008g0233
a0029c0061t0003g0232
a0028c0050t0008g0233
a0029c0061t0003g0232
 2 HG02965.hp1
HG03195.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.109+11884G>A
c.109+11884G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217015
chr1:39217240 C
C
 CTATTT
CTATTT
 8 a0001c0001t0001g0107
a0002c0004t0001g0009
a0002c0004t0001g0010
others(5): Show 
a0001c0001t0001g0107
a0002c0004t0001g0009
a0002c0004t0001g0010
a0004c0006t0001g0083
a0006c0005t0001g0234
a0006c0005t0001g0243
a0007c0007t0001g0081
a0007c0007t0001g0082
 8 HG00280.hp2
HG02486.hp1
HG02602.hp2
others(5): Show 
HG00280.hp2
HG02486.hp1
HG02602.hp2
HG02647.hp2
HG02886.hp2
NA18960.hp1
NA18980.hp1
NA19080.hp2
 intron_variant MODIFIER c.109+12157_109+1216
others(9): Show 
c.109+12157_109+12161dupTTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217240 C
C
 CTATTTTA
others(3): Show 
CTATTTTATTT
 4 a0002c0004t0001g0011
a0002c0004t0001g0012
a0006c0005t0001g0244
others(1): Show 
a0002c0004t0001g0011
a0002c0004t0001g0012
a0006c0005t0001g0244
a0009c0014t0010g0225
 4 HG02922.hp2
HG03041.hp1
HG04115.hp1
others(1): Show 
HG02922.hp2
HG03041.hp1
HG04115.hp1
NA20129.hp1
 intron_variant MODIFIER c.109+12152_109+1216
others(14): Show 
c.109+12152_109+12161dupTTTTATTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217240 C
C
 CTATTTTA
others(8): Show 
CTATTTTATTTTATTT
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.109+12147_109+1216
others(19): Show 
c.109+12147_109+12161dupTTTTATTTTATTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217240 C
C
 CTATTTTA
others(13): Show 
CTATTTTATTTTATTTTATTT
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.109+12142_109+1216
others(24): Show 
c.109+12142_109+12161dupTTTTATTTTATTTTATTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217240 CTATTT
CTATTT
 C
C
 75 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(72): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0161
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0210
a0006c0005t0001g0237
a0007c0007t0001g0056
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0009g0192
a0009c0047t0001g0189
a0015c0022t0001g0007
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 75 HG00140.hp1
HG00140.hp2
HG00544.hp2
others(72): Show 
HG00140.hp1
HG00140.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02280.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG04115.hp2
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.109+12157_109+1216
others(9): Show 
c.109+12157_109+12161delTTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217240 CTATTTTA
others(3): Show 
CTATTTTATTT
 C
C
 90 a0001c0001t0001g0019
a0001c0001t0001g0051
a0001c0040t0001g0014
others(87): Show 
a0001c0001t0001g0019
a0001c0001t0001g0051
a0001c0040t0001g0014
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0019t0001g0050
a0009c0014t0001g0190
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 90 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(87): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG03130.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03927.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.109+12152_109+1216
others(14): Show 
c.109+12152_109+12161delTTTTATTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217240 CTATTTTA
others(8): Show 
CTATTTTATTTTATTT
 C
C
 2 a0001c0001t0001g0048
a0006c0005t0001g0236
a0001c0001t0001g0048
a0006c0005t0001g0236
 2 HG01981.hp1
HG04204.hp1
HG01981.hp1
HG04204.hp1
 intron_variant MODIFIER c.109+12147_109+1216
others(19): Show 
c.109+12147_109+12161delTTTTATTTTATTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217240 CTATTTTA
others(13): Show 
CTATTTTATTTTATTTTATTT
 C
C
 15 a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
others(12): Show 
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
 15 HG01109.hp2
HG01884.hp2
HG02895.hp1
others(12): Show 
HG01109.hp2
HG01884.hp2
HG02895.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+12142_109+1216
others(24): Show 
c.109+12142_109+12161delTTTTATTTTATTTTATTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217240
chr1:39217297 C
C
 T
T
 2 a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0011
a0002c0004t0001g0012
 2 HG02922.hp2
NA20129.hp1
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.109+12166C>T
c.109+12166C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217297
chr1:39217301 G
G
 A
A
 2 a0001c0040t0001g0014
a0004c0006t0001g0049
a0001c0040t0001g0014
a0004c0006t0001g0049
 2 HG02486.hp2
NA18522.hp1
HG02486.hp2
NA18522.hp1
 intron_variant MODIFIER c.109+12170G>A
c.109+12170G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217301
chr1:39217503 G
G
 C
C
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.109+12372G>C
c.109+12372G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217503
chr1:39217553 C
C
 A
A
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.109+12422C>A
c.109+12422C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217553
chr1:39217626 C
C
 T
T
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.109+12495C>T
c.109+12495C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217626
chr1:39217627 G
G
 A
A
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.109+12496G>A
c.109+12496G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217627
chr1:39217840 C
C
 T
T
 1 a0001c0031t0001g0106
a0001c0031t0001g0106
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.109+12709C>T
c.109+12709C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39217840
chr1:39217882 C
C
 CA
CA
 99 a0002c0003t0002g0127
a0002c0004t0001g0009
a0002c0004t0001g0010
others(96): Show 
a0002c0003t0002g0127
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 99 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(96): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01099.hp2
HG01109.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18987.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.109+12768dupA
c.109+12768dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217882
chr1:39217882 C
C
 CAA
CAA
 10 a0001c0062t0001g0006
a0002c0025t0001g0001
a0005c0008t0007g0166
others(7): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0005c0008t0007g0166
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 10 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(7): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG02895.hp1
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.109+12767_109+1276
others(6): Show 
c.109+12767_109+12768dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39217882
chr1:39218099 C
C
 T
T
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.109+12968C>T
c.109+12968C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218099
chr1:39218177 C
C
 T
T
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.110-13005C>T
c.110-13005C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218177
chr1:39218182 C
C
 CA
CA
 82 a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0024
others(79): Show 
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0006c0005t0001g0243
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0014c0021t0001g0227
a0017c0020t0001g0086
a0025c0030t0001g0067
a0029c0061t0003g0232
a0032c0043t0001g0064
a0041c0033t0001g0055
a0044c0032t0001g0102
a0052c0046t0001g0068
 82 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(79): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02723.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.110-12978dupA
c.110-12978dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39218182
chr1:39218182 C
C
 CAA
CAA
 17 a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
others(14): Show 
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0053
a0001c0001t0001g0087
a0001c0001t0001g0103
a0001c0001t0001g0107
a0004c0006t0001g0075
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0017c0020t0001g0085
a0039c0042t0001g0021
a0046c0044t0001g0100
a0051c0045t0012g0022
 17 HG00438.hp1
HG00741.hp2
HG01261.hp2
others(14): Show 
HG00438.hp1
HG00741.hp2
HG01261.hp2
HG02074.hp1
HG02109.hp2
HG02280.hp1
HG02683.hp2
HG02738.hp2
HG04115.hp2
HG06807.hp1
NA18962.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA19000.hp1
NA19086.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-12979_110-1297
others(6): Show 
c.110-12979_110-12978dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39218182
chr1:39218182 CA
CA
 C
C
 124 a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
others(121): Show 
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0050c0069t0001g0123
 124 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(121): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.110-12978delA
c.110-12978delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39218182
chr1:39218252 G
G
 C
C
 16 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
others(13): Show 
a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0002c0003t0002g0093
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 16 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(13): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.110-12930G>C
c.110-12930G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218252
chr1:39218523 A
A
 G
G
 8 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0071
others(5): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0074
 8 HG00140.hp1
HG00741.hp2
HG01261.hp2
others(5): Show 
HG00140.hp1
HG00741.hp2
HG01261.hp2
HG02615.hp2
HG02723.hp2
HG02886.hp1
HG03927.hp1
NA20805.hp1
 intron_variant MODIFIER c.110-12659A>G
c.110-12659A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218523
chr1:39218552 G
G
 A
A
 1 a0002c0004t0001g0193
a0002c0004t0001g0193
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.110-12630G>A
c.110-12630G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218552
chr1:39218662 C
C
 T
T
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.110-12520C>T
c.110-12520C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218662
chr1:39218771 ATT
ATT
 A
A
 48 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(45): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 48 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(45): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.110-12407_110-1240
others(6): Show 
c.110-12407_110-12406delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39218771
chr1:39218878 C
C
 T
T
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-12304C>T
c.110-12304C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218878
chr1:39218925 C
C
 T
T
 1 a0003c0002t0001g0161
a0003c0002t0001g0161
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.110-12257C>T
c.110-12257C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218925
chr1:39218926 G
G
 A
A
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.110-12256G>A
c.110-12256G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218926
chr1:39218969 C
C
 T
T
 2 a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0242
a0006c0005t0001g0243
 2 HG02602.hp2
HG03239.hp2
HG02602.hp2
HG03239.hp2
 intron_variant MODIFIER c.110-12213C>T
c.110-12213C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39218969
chr1:39219076 C
C
 T
T
 3 a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
 3 NA18953.hp2
NA18983.hp1
NA18988.hp2
NA18953.hp2
NA18983.hp1
NA18988.hp2
 intron_variant MODIFIER c.110-12106C>T
c.110-12106C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39219076
chr1:39219288 A
A
 G
G
 1 a0003c0002t0001g0150
a0003c0002t0001g0150
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.110-11894A>G
c.110-11894A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39219288
chr1:39219861 C
C
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.110-11321C>G
c.110-11321C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39219861
chr1:39220030 C
C
 G
G
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.110-11152C>G
c.110-11152C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220030
chr1:39220320 G
G
 A
A
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.110-10862G>A
c.110-10862G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220320
chr1:39220392 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.110-10790C>T
c.110-10790C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220392
chr1:39220480 A
A
 AT
AT
 14 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(11): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 14 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(11): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.110-10702_110-1070
others(5): Show 
c.110-10702_110-10701insT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220480
chr1:39220481 A
A
 AT
AT
 115 a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
others(112): Show 
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0108
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0212
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0038c0054t0002g0178
a0040c0051t0001g0205
a0044c0032t0001g0102
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 115 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(112): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.110-10682dupT
c.110-10682dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39220481
chr1:39220481 A
A
 ATT
ATT
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0003c0002t0001g0109
a0003c0002t0001g0149
a0003c0002t0001g0160
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-10683_110-1068
others(6): Show 
c.110-10683_110-10682dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39220481
chr1:39220481 A
A
 T
T
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.110-10701A>T
c.110-10701A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220481
chr1:39220538 A
A
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.110-10644A>C
c.110-10644A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220538
chr1:39220544 G
G
 A
A
 72 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(69): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 72 HG00438.hp2
HG00639.hp2
HG00642.hp1
others(69): Show 
HG00438.hp2
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.110-10638G>A
c.110-10638G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220544
chr1:39220729 C
C
 T
T
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.110-10453C>T
c.110-10453C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39220729
chr1:39221018 C
C
 T
T
 2 a0006c0005t0001g0236
a0006c0005t0001g0244
a0006c0005t0001g0236
a0006c0005t0001g0244
 2 HG04115.hp1
HG04204.hp1
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.110-10164C>T
c.110-10164C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39221018
chr1:39221182 A
A
 G
G
 1 a0003c0002t0001g0148
a0003c0002t0001g0148
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.110-10000A>G
c.110-10000A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39221182
chr1:39221255 T
T
 G
G
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-9927T>G
c.110-9927T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39221255
chr1:39221296 G
G
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.110-9886G>A
c.110-9886G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39221296
chr1:39221311 TAGAG
TAGAG
 T
T
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-9864_110-9861d
others(6): Show 
c.110-9864_110-9861delAGAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39221311
chr1:39221817 G
G
 T
T
 1 a0017c0020t0001g0085
a0017c0020t0001g0085
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.110-9365G>T
c.110-9365G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39221817
chr1:39221880 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.110-9302C>T
c.110-9302C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39221880
chr1:39222089 C
C
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.110-9093C>A
c.110-9093C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222089
chr1:39222215 C
C
 T
T
 9 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
others(6): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0051c0045t0012g0022
 9 HG00544.hp2
HG00597.hp2
HG00609.hp2
others(6): Show 
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG02135.hp1
NA18953.hp1
NA18974.hp2
NA18995.hp1
NA18999.hp1
NA19083.hp1
 intron_variant MODIFIER c.110-8967C>T
c.110-8967C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222215
chr1:39222266 A
A
 G
G
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.110-8916A>G
c.110-8916A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222266
chr1:39222403 G
G
 A
A
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.110-8779G>A
c.110-8779G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222403
chr1:39222570 A
A
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.110-8612A>G
c.110-8612A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222570
chr1:39222787 T
T
 A
A
 110 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(107): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 110 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(107): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-8395T>A
c.110-8395T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222787
chr1:39222880 T
T
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.110-8302T>G
c.110-8302T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222880
chr1:39222896 G
G
 A
A
 2 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0024
a0001c0001t0001g0025
 2 NA18981.hp2
NA19091.hp2
NA18981.hp2
NA19091.hp2
 intron_variant MODIFIER c.110-8286G>A
c.110-8286G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39222896
chr1:39223002 A
A
 G
G
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-8180A>G
c.110-8180A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223002
chr1:39223326 A
A
 G
G
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-7856A>G
c.110-7856A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223326
chr1:39223356 G
G
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-7826G>A
c.110-7826G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223356
chr1:39223425 TTTCTG
TTTCTG
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.110-7756_110-7752d
others(7): Show 
c.110-7756_110-7752delTTCTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223425
chr1:39223435 A
A
 T
T
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.110-7747A>T
c.110-7747A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223435
chr1:39223481 A
A
 G
G
 1 a0044c0032t0001g0102
a0044c0032t0001g0102
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.110-7701A>G
c.110-7701A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223481
chr1:39223507 G
G
 T
T
 1 a0003c0066t0001g0117
a0003c0066t0001g0117
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.110-7675G>T
c.110-7675G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223507
chr1:39223510 A
A
 G
G
 72 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(69): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 72 HG00438.hp2
HG00639.hp2
HG00642.hp1
others(69): Show 
HG00438.hp2
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.110-7672A>G
c.110-7672A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223510
chr1:39223515 A
A
 AT
AT
 7 a0001c0001t0001g0018
a0001c0001t0001g0061
a0001c0001t0001g0098
others(4): Show 
a0001c0001t0001g0018
a0001c0001t0001g0061
a0001c0001t0001g0098
a0002c0003t0002g0044
a0006c0005t0001g0244
a0024c0076t0003g0222
a0034c0056t0001g0176
 7 HG00597.hp1
HG01261.hp2
HG03041.hp2
others(4): Show 
HG00597.hp1
HG01261.hp2
HG03041.hp2
HG03130.hp1
HG04115.hp1
NA18983.hp1
NA21309.hp1
 intron_variant MODIFIER c.110-7651dupT
c.110-7651dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39223515
chr1:39223552 T
T
 C
C
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-7630T>C
c.110-7630T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223552
chr1:39223776 C
C
 G
G
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.110-7406C>G
c.110-7406C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39223776
chr1:39224176 C
C
 T
T
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.110-7006C>T
c.110-7006C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39224176
chr1:39224237 C
C
 T
T
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-6945C>T
c.110-6945C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39224237
chr1:39224420 A
A
 AAG
AAG
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-6753_110-6752d
others(4): Show 
c.110-6753_110-6752dupAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39224420
chr1:39224471 C
C
 T
T
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.110-6711C>T
c.110-6711C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39224471
chr1:39224507 T
T
 C
C
 1 a0053c0077t0001g0020
a0053c0077t0001g0020
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.110-6675T>C
c.110-6675T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39224507
chr1:39224586 A
A
 G
G
 1 a0002c0025t0001g0191
a0002c0025t0001g0191
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.110-6596A>G
c.110-6596A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39224586
chr1:39225122 T
T
 C
C
 11 a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
others(8): Show 
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0071t0001g0120
a0049c0067t0001g0116
a0050c0069t0001g0123
 11 HG00741.hp1
HG01261.hp1
HG01361.hp2
others(8): Show 
HG00741.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02273.hp2
HG03490.hp1
NA18999.hp2
NA19091.hp1
 intron_variant MODIFIER c.110-6060T>C
c.110-6060T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225122
chr1:39225217 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 106 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(103): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0125
a0004c0006t0001g0049
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 106 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(103): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-5962_110-5955d
others(10): Show 
c.110-5962_110-5955dupTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39225217
chr1:39225217 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 90 a0001c0001t0001g0103
a0002c0003t0002g0127
a0002c0004t0001g0009
others(87): Show 
a0001c0001t0001g0103
a0002c0003t0002g0127
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0224
a0002c0004t0011g0194
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0019t0001g0050
a0004c0019t0001g0052
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0040c0051t0001g0205
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 90 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(87): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01099.hp2
HG01109.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19010.hp1
NA19011.hp1
NA19043.hp1
NA19043.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.110-5963_110-5955d
others(11): Show 
c.110-5963_110-5955dupTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39225217
chr1:39225217 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 29 a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
others(26): Show 
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0024t0001g0198
a0002c0024t0001g0203
a0027c0063t0002g0229
a0033c0053t0001g0200
a0035c0055t0002g0179
a0038c0054t0002g0178
a0042c0052t0001g0201
 29 HG00438.hp2
HG00639.hp2
HG01081.hp1
others(26): Show 
HG00438.hp2
HG00639.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
NA18906.hp2
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-5964_110-5955d
others(12): Show 
c.110-5964_110-5955dupTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39225217
chr1:39225217 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 7 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0015t0002g0175
others(4): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0015t0002g0175
a0002c0025t0001g0191
a0016c0026t0001g0173
a0016c0026t0001g0174
a0034c0056t0001g0176
 7 HG02040.hp2
HG02132.hp2
HG02145.hp2
others(4): Show 
HG02040.hp2
HG02132.hp2
HG02145.hp2
NA18953.hp2
NA18966.hp1
NA18983.hp1
NA18988.hp2
 intron_variant MODIFIER c.110-5955_110-5954i
others(13): Show 
c.110-5955_110-5954insTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39225217
chr1:39225285 C
C
 T
T
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 HG01081.hp2
HG01981.hp1
HG01081.hp2
HG01981.hp1
 intron_variant MODIFIER c.110-5897C>T
c.110-5897C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225285
chr1:39225366 G
G
 A
A
 1 a0006c0005t0001g0235
a0006c0005t0001g0235
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.110-5816G>A
c.110-5816G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225366
chr1:39225409 G
G
 C
C
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.110-5773G>C
c.110-5773G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225409
chr1:39225508 G
G
 A
A
 1 a0004c0006t0001g0077
a0004c0006t0001g0077
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.110-5674G>A
c.110-5674G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225508
chr1:39225632 A
A
 G
G
 2 a0001c0001t0001g0031
a0001c0001t0001g0094
a0001c0001t0001g0031
a0001c0001t0001g0094
 2 NA18986.hp2
NA19002.hp1
NA18986.hp2
NA19002.hp1
 intron_variant MODIFIER c.110-5550A>G
c.110-5550A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225632
chr1:39225674 C
C
 A
A
 1 a0006c0005t0001g0235
a0006c0005t0001g0235
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.110-5508C>A
c.110-5508C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225674
chr1:39225687 T
T
 G
G
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.110-5495T>G
c.110-5495T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225687
chr1:39225726 T
T
 G
G
 37 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(34): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0033c0053t0001g0200
a0042c0052t0001g0201
 37 HG00639.hp2
HG00642.hp1
HG01109.hp2
others(34): Show 
HG00639.hp2
HG00642.hp1
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.110-5456T>G
c.110-5456T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225726
chr1:39225956 A
A
 T
T
 2 a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0242
a0006c0005t0001g0243
 2 HG02602.hp2
HG03239.hp2
HG02602.hp2
HG03239.hp2
 intron_variant MODIFIER c.110-5226A>T
c.110-5226A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39225956
chr1:39226223 G
G
 A
A
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.110-4959G>A
c.110-4959G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39226223
chr1:39226227 T
T
 G
G
 1 a0002c0004t0001g0195
a0002c0004t0001g0195
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.110-4955T>G
c.110-4955T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39226227
chr1:39226342 A
A
 AT
AT
 7 a0001c0001t0001g0103
a0004c0011t0003g0167
a0004c0011t0003g0169
others(4): Show 
a0001c0001t0001g0103
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 7 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(4): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
NA19000.hp1
 intron_variant MODIFIER c.110-4824dupT
c.110-4824dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39226342
chr1:39226342 AT
AT
 A
A
 50 a0001c0001t0001g0026
a0001c0001t0001g0045
a0002c0003t0002g0127
others(47): Show 
a0001c0001t0001g0026
a0001c0001t0001g0045
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(47): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19043.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.110-4824delT
c.110-4824delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39226342
chr1:39226365 G
G
 T
T
 4 a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
others(1): Show 
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0027c0063t0002g0229
 4 HG00438.hp2
HG02071.hp1
HG02165.hp2
others(1): Show 
HG00438.hp2
HG02071.hp1
HG02165.hp2
NA19002.hp2
 intron_variant MODIFIER c.110-4817G>T
c.110-4817G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39226365
chr1:39226426 C
C
 T
T
 2 a0004c0006t0001g0069
a0052c0046t0001g0068
a0004c0006t0001g0069
a0052c0046t0001g0068
 2 HG01069.hp1
HG03209.hp1
HG01069.hp1
HG03209.hp1
 intron_variant MODIFIER c.110-4756C>T
c.110-4756C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39226426
chr1:39226560 C
C
 T
T
 1 a0001c0037t0001g0095
a0001c0037t0001g0095
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.110-4622C>T
c.110-4622C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39226560
chr1:39226774 C
C
 T
T
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-4408C>T
c.110-4408C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39226774
chr1:39226919 C
C
 T
T
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.110-4263C>T
c.110-4263C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39226919
chr1:39227269 T
T
 C
C
 72 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(69): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 72 HG00438.hp2
HG00639.hp2
HG00642.hp1
others(69): Show 
HG00438.hp2
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.110-3913T>C
c.110-3913T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39227269
chr1:39227317 A
A
 G
G
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-3865A>G
c.110-3865A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39227317
chr1:39227326 G
G
 A
A
 2 a0001c0001t0001g0103
a0009c0014t0010g0225
a0001c0001t0001g0103
a0009c0014t0010g0225
 2 HG03041.hp1
NA19000.hp1
HG03041.hp1
NA19000.hp1
 intron_variant MODIFIER c.110-3856G>A
c.110-3856G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39227326
chr1:39227479 ATAT
ATAT
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.110-3702_110-3700d
others(5): Show 
c.110-3702_110-3700delTAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39227479
chr1:39228078 A
A
 C
C
 1 a0002c0003t0002g0185
a0002c0003t0002g0185
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.110-3104A>C
c.110-3104A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228078
chr1:39228082 G
G
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-3100G>A
c.110-3100G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228082
chr1:39228176 G
G
 A
A
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.110-3006G>A
c.110-3006G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228176
chr1:39228399 C
C
 G
G
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.110-2783C>G
c.110-2783C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228399
chr1:39228420 A
A
 C
C
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.110-2762A>C
c.110-2762A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228420
chr1:39228536 T
T
 TATG
TATG
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.110-2646_110-2645i
others(5): Show 
c.110-2646_110-2645insATG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228536
chr1:39228537 C
C
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.110-2645C>T
c.110-2645C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228537
chr1:39228539 A
A
 G
G
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.110-2643A>G
c.110-2643A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228539
chr1:39228540 A
A
 G
G
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.110-2642A>G
c.110-2642A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228540
chr1:39228543 A
A
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.110-2639A>T
c.110-2639A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228543
chr1:39228752 C
C
 G
G
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.110-2430C>G
c.110-2430C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228752
chr1:39228810 T
T
 C
C
 3 a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
 3 HG02572.hp2
NA18522.hp2
NA19030.hp2
HG02572.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.110-2372T>C
c.110-2372T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228810
chr1:39228834 A
A
 G
G
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.110-2348A>G
c.110-2348A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228834
chr1:39228846 G
G
 T
T
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.110-2336G>T
c.110-2336G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228846
chr1:39228940 C
C
 T
T
 3 a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
 3 HG02257.hp2
HG03098.hp1
HG03486.hp1
HG02257.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.110-2242C>T
c.110-2242C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39228940
chr1:39229483 A
A
 G
G
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-1699A>G
c.110-1699A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39229483
chr1:39229563 T
T
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.110-1619T>A
c.110-1619T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39229563
chr1:39229626 A
A
 T
T
 3 a0003c0002t0001g0115
a0003c0002t0001g0147
a0003c0002t0001g0155
a0003c0002t0001g0115
a0003c0002t0001g0147
a0003c0002t0001g0155
 3 HG00280.hp1
HG02738.hp1
HG03540.hp2
HG00280.hp1
HG02738.hp1
HG03540.hp2
 intron_variant MODIFIER c.110-1556A>T
c.110-1556A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39229626
chr1:39229659 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.110-1523G>A
c.110-1523G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39229659
chr1:39230584 T
T
 TA
TA
 52 a0001c0001t0001g0026
a0002c0003t0002g0127
a0003c0002t0001g0108
others(49): Show 
a0001c0001t0001g0026
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0212
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
HG06807.hp2
NA18939.hp1
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.110-585dupA
c.110-585dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39230584
chr1:39230649 G
G
 T
T
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.110-533G>T
c.110-533G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39230649
chr1:39230972 G
G
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.110-210G>A
c.110-210G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39230972
chr1:39230975 G
G
 A
A
 223 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(220): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 223 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(220): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.110-207G>A
c.110-207G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39230975
chr1:39231046 C
C
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.110-136C>A
c.110-136C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 chr1 39231046
chr1:39231099 CAG
CAG
 C
C
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.110-79_110-78delGA
c.110-79_110-78delGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 1/100 INFO_REALIGN_3_PRIME chr1 39231099
chr1:39231456 A
A
 G
G
 1 a0025c0030t0001g0067
a0025c0030t0001g0067
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.171+213A>G
c.171+213A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39231456
chr1:39231480 T
T
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.171+237T>G
c.171+237T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39231480
chr1:39231693 C
C
 CT
CT
 27 a0001c0001t0001g0030
a0001c0001t0001g0099
a0001c0062t0001g0006
others(24): Show 
a0001c0001t0001g0030
a0001c0001t0001g0099
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00735.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00735.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02155.hp2
HG02165.hp2
HG02572.hp2
HG03491.hp1
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19030.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.171+461dupT
c.171+461dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39231693
chr1:39231693 C
C
 CTT
CTT
 8 a0002c0015t0002g0175
a0004c0011t0003g0167
a0004c0011t0003g0169
others(5): Show 
a0002c0015t0002g0175
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 8 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(5): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02132.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.171+460_171+461dup
others(2): Show 
c.171+460_171+461dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39231693
chr1:39231694 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.171+451T>C
c.171+451T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39231694
chr1:39231704 T
T
 A
A
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.171+461T>A
c.171+461T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39231704
chr1:39231966 C
C
 T
T
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.171+723C>T
c.171+723C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39231966
chr1:39232073 T
T
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.171+830T>C
c.171+830T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232073
chr1:39232227 T
T
 G
G
 1 a0001c0001t0002g0032
a0001c0001t0002g0032
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.171+984T>G
c.171+984T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232227
chr1:39232277 G
G
 A
A
 4 a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
others(1): Show 
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 4 HG02109.hp1
HG03453.hp2
HG03471.hp2
others(1): Show 
HG02109.hp1
HG03453.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+1034G>A
c.171+1034G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232277
chr1:39232335 C
C
 G
G
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.171+1092C>G
c.171+1092C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232335
chr1:39232437 C
C
 T
T
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.171+1194C>T
c.171+1194C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232437
chr1:39232485 A
A
 T
T
 1 a0002c0004t0001g0195
a0002c0004t0001g0195
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.171+1242A>T
c.171+1242A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232485
chr1:39232527 C
C
 T
T
 3 a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
 3 HG02572.hp2
NA18522.hp2
NA19030.hp2
HG02572.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.171+1284C>T
c.171+1284C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232527
chr1:39232652 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.171+1409G>A
c.171+1409G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232652
chr1:39232746 G
G
 GT
GT
 7 a0002c0004t0001g0011
a0002c0004t0001g0012
a0005c0008t0005g0162
others(4): Show 
a0002c0004t0001g0011
a0002c0004t0001g0012
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0008c0010t0003g0221
 7 HG02895.hp1
HG02922.hp2
HG02965.hp2
others(4): Show 
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG03209.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.171+1525dupT
c.171+1525dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39232746
chr1:39232746 GT
GT
 G
G
 116 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(113): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0236
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0027c0063t0002g0229
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 116 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(113): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp2
HG03704.hp1
HG03927.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+1525delT
c.171+1525delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39232746
chr1:39232746 GTT
GTT
 G
G
 17 a0001c0062t0001g0006
a0002c0025t0001g0001
a0004c0011t0003g0167
others(14): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0006c0005t0001g0234
a0006c0005t0001g0244
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0030c0060t0001g0241
a0036c0048t0001g0008
a0037c0058t0001g0245
 17 HG01243.hp2
HG02055.hp2
HG02109.hp1
others(14): Show 
HG01243.hp2
HG02055.hp2
HG02109.hp1
HG02280.hp1
HG02572.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03453.hp2
HG03471.hp2
HG04115.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+1524_171+1525d
others(4): Show 
c.171+1524_171+1525delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39232746
chr1:39232746 GTTT
GTTT
 G
G
 7 a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
others(4): Show 
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
 7 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(4): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02976.hp2
HG03239.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.171+1523_171+1525d
others(5): Show 
c.171+1523_171+1525delTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39232746
chr1:39232747 T
T
 G
G
 2 a0001c0034t0001g0090
a0032c0043t0001g0064
a0001c0034t0001g0090
a0032c0043t0001g0064
 2 HG03195.hp1
HG03704.hp2
HG03195.hp1
HG03704.hp2
 intron_variant MODIFIER c.171+1504T>G
c.171+1504T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232747
chr1:39232754 T
T
 TTTTTG
TTTTTG
 43 a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
others(40): Show 
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 43 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(40): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00741.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02683.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19091.hp1
 intron_variant MODIFIER c.171+1515_171+1516i
others(7): Show 
c.171+1515_171+1516insGTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39232754
chr1:39232757 T
T
 G
G
 10 a0001c0001t0001g0051
a0001c0001t0001g0065
a0001c0037t0001g0095
others(7): Show 
a0001c0001t0001g0051
a0001c0001t0001g0065
a0001c0037t0001g0095
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
a0052c0046t0001g0068
 10 HG00140.hp2
HG00280.hp2
HG01069.hp1
others(7): Show 
HG00140.hp2
HG00280.hp2
HG01069.hp1
HG01099.hp1
HG01243.hp1
HG02615.hp2
HG02896.hp1
HG02897.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+1514T>G
c.171+1514T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232757
chr1:39232760 T
T
 G
G
 14 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(11): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0033c0053t0001g0200
a0042c0052t0001g0201
 14 HG00639.hp2
HG01884.hp1
HG02257.hp1
others(11): Show 
HG00639.hp2
HG01884.hp1
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.171+1517T>G
c.171+1517T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232760
chr1:39232761 T
T
 G
G
 108 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(105): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 108 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+1518T>G
c.171+1518T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232761
chr1:39232764 T
T
 G
G
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.171+1521T>G
c.171+1521T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232764
chr1:39232765 T
T
 G
G
 114 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(111): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0119
a0003c0002t0001g0143
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0009g0192
a0009c0047t0001g0189
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 114 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(111): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+1522T>G
c.171+1522T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232765
chr1:39232769 G
G
 T
T
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.171+1526G>T
c.171+1526G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232769
chr1:39232896 C
C
 T
T
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.171+1653C>T
c.171+1653C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232896
chr1:39232973 G
G
 A
A
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.171+1730G>A
c.171+1730G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39232973
chr1:39233022 GTTGTTGT
others(6): Show 
GTTGTTGTTGTGTT
 G
G
 2 a0001c0062t0001g0006
a0036c0048t0001g0008
a0001c0062t0001g0006
a0036c0048t0001g0008
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.171+1785_171+1797d
others(15): Show 
c.171+1785_171+1797delGTTGTGTTTTGTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39233022
chr1:39233033 GTTTTGTT
GTTTTGTT
 G
G
 108 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(105): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 108 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+1803_171+1809d
others(9): Show 
c.171+1803_171+1809delTTTTTTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39233033
chr1:39233040 T
T
 G
G
 2 a0001c0062t0001g0006
a0036c0048t0001g0008
a0001c0062t0001g0006
a0036c0048t0001g0008
 2 NA19030.hp1
NA19030.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.171+1797T>G
c.171+1797T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233040
chr1:39233161 A
A
 C
C
 2 a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0110
a0003c0002t0001g0111
 2 HG00642.hp2
HG00735.hp2
HG00642.hp2
HG00735.hp2
 intron_variant MODIFIER c.171+1918A>C
c.171+1918A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233161
chr1:39233254 G
G
 A
A
 3 a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 3 HG01069.hp2
HG03041.hp1
HG03579.hp1
HG01069.hp2
HG03041.hp1
HG03579.hp1
 intron_variant MODIFIER c.171+2011G>A
c.171+2011G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233254
chr1:39233367 T
T
 C
C
 1 a0052c0046t0001g0068
a0052c0046t0001g0068
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.171+2124T>C
c.171+2124T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233367
chr1:39233429 G
G
 A
A
 9 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(6): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
 9 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(6): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.171+2186G>A
c.171+2186G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233429
chr1:39233442 C
C
 T
T
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+2199C>T
c.171+2199C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233442
chr1:39233562 T
T
 C
C
 1 a0003c0002t0001g0161
a0003c0002t0001g0161
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.171+2319T>C
c.171+2319T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233562
chr1:39233572 C
C
 T
T
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+2329C>T
c.171+2329C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233572
chr1:39233775 C
C
 CT
CT
 7 a0003c0002t0001g0152
a0005c0008t0005g0162
a0005c0008t0005g0163
others(4): Show 
a0003c0002t0001g0152
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0014c0021t0001g0226
a0014c0021t0001g0227
a0040c0051t0001g0205
 7 HG02896.hp1
HG02897.hp1
HG02965.hp2
others(4): Show 
HG02896.hp1
HG02897.hp1
HG02965.hp2
NA18974.hp1
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.171+2554dupT
c.171+2554dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39233775
chr1:39233775 C
C
 CTTTTT
CTTTTT
 5 a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
others(2): Show 
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0037c0058t0001g0245
 5 HG01243.hp2
HG02109.hp1
HG03453.hp2
others(2): Show 
HG01243.hp2
HG02109.hp1
HG03453.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+2550_171+2554d
others(7): Show 
c.171+2550_171+2554dupTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39233775
chr1:39233775 CT
CT
 C
C
 35 a0002c0003t0002g0127
a0002c0003t0002g0231
a0002c0004t0001g0193
others(32): Show 
a0002c0003t0002g0127
a0002c0003t0002g0231
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0025t0001g0191
a0003c0002t0001g0118
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0151
a0003c0066t0001g0117
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0238
a0006c0005t0001g0240
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0030c0060t0001g0241
a0033c0053t0001g0200
a0042c0052t0001g0201
 35 HG00438.hp2
HG00639.hp2
HG01069.hp2
others(32): Show 
HG00438.hp2
HG00639.hp2
HG01069.hp2
HG01884.hp1
HG02074.hp2
HG02129.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18960.hp2
NA19083.hp2
NA19086.hp1
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.171+2554delT
c.171+2554delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39233775
chr1:39233775 CTT
CTT
 C
C
 7 a0002c0024t0001g0203
a0005c0008t0001g0210
a0006c0005t0001g0235
others(4): Show 
a0002c0024t0001g0203
a0005c0008t0001g0210
a0006c0005t0001g0235
a0006c0005t0001g0239
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
 7 HG01884.hp2
HG02572.hp1
HG02615.hp1
others(4): Show 
HG01884.hp2
HG02572.hp1
HG02615.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp2
 intron_variant MODIFIER c.171+2553_171+2554d
others(4): Show 
c.171+2553_171+2554delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39233775
chr1:39233791 TTTTTTTA
others(4): Show 
TTTTTTTATTTA
 T
T
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.171+2558_171+2568d
others(13): Show 
c.171+2558_171+2568delTATTTTTTATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39233791
chr1:39233793 T
T
 A
A
 1 a0002c0004t0001g0009
a0002c0004t0001g0009
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.171+2550T>A
c.171+2550T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233793
chr1:39233794 T
T
 A
A
 2 a0002c0003t0002g0228
a0006c0005t0001g0238
a0002c0003t0002g0228
a0006c0005t0001g0238
 2 HG02071.hp1
HG03516.hp2
HG02071.hp1
HG03516.hp2
 intron_variant MODIFIER c.171+2551T>A
c.171+2551T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233794
chr1:39233797 TA
TA
 T
T
 8 a0002c0004t0001g0010
a0002c0004t0001g0011
a0006c0005t0001g0236
others(5): Show 
a0002c0004t0001g0010
a0002c0004t0001g0011
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0028c0050t0008g0233
 8 HG01106.hp1
HG02486.hp1
HG02602.hp2
others(5): Show 
HG01106.hp1
HG02486.hp1
HG02602.hp2
HG02965.hp1
HG03239.hp2
HG04115.hp1
HG04204.hp1
NA20129.hp1
 intron_variant MODIFIER c.171+2555delA
c.171+2555delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233797
chr1:39233798 A
A
 T
T
 93 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0004t0001g0009
a0002c0004t0001g0012
a0002c0039t0001g0073
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0029c0061t0003g0232
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0049c0067t0001g0116
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 93 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+2555A>T
c.171+2555A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233798
chr1:39233802 A
A
 T
T
 91 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(88): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 91 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(88): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+2559A>T
c.171+2559A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233802
chr1:39233808 T
T
 A
A
 32 a0001c0001t0001g0027
a0001c0001t0001g0103
a0001c0001t0001g0104
others(29): Show 
a0001c0001t0001g0027
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0040t0001g0014
a0001c0062t0001g0006
a0002c0025t0001g0001
a0004c0006t0001g0049
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0030c0060t0001g0241
a0036c0048t0001g0008
a0037c0058t0001g0245
a0043c0057t0001g0168
 32 HG01106.hp1
HG01243.hp1
HG01243.hp2
others(29): Show 
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18943.hp1
NA19000.hp1
NA19030.hp1
NA19030.hp2
NA19085.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.171+2565T>A
c.171+2565T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233808
chr1:39233808 T
T
 TTA
TTA
 3 a0011c0013t0001g0076
a0011c0013t0001g0078
a0046c0044t0001g0100
a0011c0013t0001g0076
a0011c0013t0001g0078
a0046c0044t0001g0100
 3 HG02257.hp2
HG03098.hp1
NA18975.hp1
HG02257.hp2
HG03098.hp1
NA18975.hp1
 intron_variant MODIFIER c.171+2565_171+2566i
others(4): Show 
c.171+2565_171+2566insTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233808
chr1:39233808 T
T
 TTTA
TTTA
 10 a0001c0001t0001g0071
a0001c0001t0001g0091
a0002c0003t0002g0093
others(7): Show 
a0001c0001t0001g0071
a0001c0001t0001g0091
a0002c0003t0002g0093
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0057
a0011c0013t0001g0079
a0041c0033t0001g0055
 10 HG01106.hp2
HG02055.hp1
HG02155.hp1
others(7): Show 
HG01106.hp2
HG02055.hp1
HG02155.hp1
HG02523.hp1
HG02723.hp2
HG03239.hp1
HG03486.hp1
NA18960.hp1
NA18962.hp2
NA19080.hp2
 intron_variant MODIFIER c.171+2565_171+2566i
others(5): Show 
c.171+2565_171+2566insTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233808
chr1:39233808 T
T
 TTTTA
TTTTA
 19 a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0024
others(16): Show 
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0002g0016
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0031t0001g0106
a0001c0037t0001g0095
a0001c0041t0001g0072
a0044c0032t0001g0102
 19 HG02015.hp2
HG02129.hp2
HG02145.hp1
others(16): Show 
HG02015.hp2
HG02129.hp2
HG02145.hp1
HG02615.hp2
HG02886.hp1
HG03041.hp2
HG03704.hp1
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18954.hp1
NA18969.hp2
NA18981.hp2
NA18983.hp2
NA19010.hp2
NA19083.hp1
NA19086.hp2
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.171+2565_171+2566i
others(6): Show 
c.171+2565_171+2566insTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233808
chr1:39233808 T
T
 TTTTTA
TTTTTA
 33 a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0030
others(30): Show 
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0070
a0001c0001t0001g0080
a0001c0001t0001g0096
a0001c0001t0001g0099
a0001c0001t0001g0105
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0047
a0002c0003t0002g0044
a0002c0039t0001g0073
a0004c0006t0001g0074
a0017c0020t0001g0085
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0051c0045t0012g0022
a0053c0077t0001g0020
 33 HG00140.hp1
HG00438.hp1
HG00558.hp1
others(30): Show 
HG00140.hp1
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01346.hp1
HG01361.hp1
HG01981.hp1
HG02004.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02273.hp1
HG02280.hp2
HG02738.hp2
HG03491.hp1
HG03704.hp2
HG03927.hp1
NA18953.hp1
NA18962.hp1
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18987.hp2
NA18988.hp1
NA18999.hp1
NA19240.hp2
NA20805.hp1
 intron_variant MODIFIER c.171+2565_171+2566i
others(7): Show 
c.171+2565_171+2566insTTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233808
chr1:39233808 T
T
 TTTTTTA
TTTTTTA
 12 a0001c0001t0001g0018
a0001c0001t0001g0031
a0001c0001t0001g0042
others(9): Show 
a0001c0001t0001g0018
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0053
a0001c0001t0001g0094
a0001c0018t0002g0036
a0001c0034t0001g0090
a0001c0036t0002g0035
a0004c0006t0001g0069
a0004c0035t0001g0063
a0004c0038t0001g0084
a0052c0046t0001g0068
 12 HG00544.hp2
HG00741.hp2
HG01069.hp1
others(9): Show 
HG00544.hp2
HG00741.hp2
HG01069.hp1
HG01167.hp1
HG01261.hp2
HG01952.hp2
HG03195.hp1
HG03209.hp1
HG03490.hp2
NA18986.hp2
NA18995.hp1
NA19002.hp1
 intron_variant MODIFIER c.171+2565_171+2566i
others(8): Show 
c.171+2565_171+2566insTTTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233808
chr1:39233808 T
T
 TTTTTTTA
TTTTTTTA
 6 a0001c0001t0001g0065
a0001c0001t0001g0089
a0001c0001t0001g0107
others(3): Show 
a0001c0001t0001g0065
a0001c0001t0001g0089
a0001c0001t0001g0107
a0004c0006t0001g0075
a0004c0006t0001g0083
a0004c0019t0001g0050
 6 HG00140.hp2
HG00280.hp2
HG02683.hp2
others(3): Show 
HG00140.hp2
HG00280.hp2
HG02683.hp2
NA18980.hp1
NA18990.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+2565_171+2566i
others(9): Show 
c.171+2565_171+2566insTTTTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233808
chr1:39233996 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.171+2753C>T
c.171+2753C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39233996
chr1:39234205 G
G
 A
A
 1 a0002c0004t0001g0193
a0002c0004t0001g0193
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.171+2962G>A
c.171+2962G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234205
chr1:39234331 G
G
 A
A
 1 a0002c0003t0002g0113
a0002c0003t0002g0113
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.171+3088G>A
c.171+3088G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234331
chr1:39234357 T
T
 C
C
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.171+3114T>C
c.171+3114T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234357
chr1:39234367 C
C
 T
T
 1 a0001c0001t0001g0107
a0001c0001t0001g0107
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.171+3124C>T
c.171+3124C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234367
chr1:39234388 T
T
 A
A
 1 a0001c0012t0001g0058
a0001c0012t0001g0058
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.171+3145T>A
c.171+3145T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234388
chr1:39234448 G
G
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.171+3205G>T
c.171+3205G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234448
chr1:39234480 T
T
 C
C
 197 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(194): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3237T>C
c.171+3237T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234480
chr1:39234491 A
A
 G
G
 16 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
others(13): Show 
a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0002c0003t0002g0093
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 16 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(13): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.171+3248A>G
c.171+3248A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234491
chr1:39234504 C
C
 T
T
 78 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(75): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0044c0032t0001g0102
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 78 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(75): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02886.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3261C>T
c.171+3261C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234504
chr1:39234516 C
C
 T
T
 16 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
others(13): Show 
a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0002c0003t0002g0093
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 16 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(13): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.171+3273C>T
c.171+3273C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234516
chr1:39234521 A
A
 G
G
 16 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
others(13): Show 
a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0002c0003t0002g0093
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 16 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(13): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.171+3278A>G
c.171+3278A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234521
chr1:39234536 T
T
 G
G
 5 a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
others(2): Show 
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0030c0060t0001g0241
 5 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(2): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.171+3293T>G
c.171+3293T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234536
chr1:39234549 A
A
 ACCGCCCC
others(142): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGAC
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGCTGAC
 1 a0017c0020t0001g0085
a0017c0020t0001g0085
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.171+3308_171+3309i
others(151): Show 
c.171+3308_171+3309insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGAGCTGACCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234549
chr1:39234552 C
C
 G
G
 15 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
others(12): Show 
a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0002c0003t0002g0093
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 15 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(12): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG03041.hp2
HG03130.hp1
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.171+3309C>G
c.171+3309C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234552
chr1:39234576 C
C
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.171+3333C>T
c.171+3333C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234576
chr1:39234585 T
T
 G
G
 196 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(193): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 196 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(193): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3342T>G
c.171+3342T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234585
chr1:39234596 T
T
 C
C
 1 a0002c0003t0002g0231
a0002c0003t0002g0231
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.171+3353T>C
c.171+3353T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234596
chr1:39234601 G
G
 C
C
 194 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(191): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 194 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(191): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3358G>C
c.171+3358G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234601
chr1:39234616 C
C
 T
T
 21 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(18): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0015t0002g0112
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 21 HG01081.hp1
HG01167.hp2
HG01346.hp2
others(18): Show 
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.171+3373C>T
c.171+3373C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234616
chr1:39234620 C
C
 T
T
 1 a0002c0025t0001g0191
a0002c0025t0001g0191
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.171+3377C>T
c.171+3377C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234620
chr1:39234634 G
G
 GGGCGGGG
others(414): Show 
GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGAGATGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG
CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA
CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC
CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC
CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC
TCCCGGATGGGGCGGCTGGCCT
 1 a0002c0003t0002g0093
a0002c0003t0002g0093
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.171+3399_171+3400i
others(423): Show 
c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGAGATGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234634
chr1:39234634 G
G
 GGGCGGGG
others(414): Show 
GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGAGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG
CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA
CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC
CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC
CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC
TCCCGGATGGGGCGGCTGGCCT
 3 a0001c0012t0001g0058
a0001c0012t0001g0059
a0041c0033t0001g0055
a0001c0012t0001g0058
a0001c0012t0001g0059
a0041c0033t0001g0055
 3 HG01106.hp2
HG02129.hp2
NA18954.hp1
HG01106.hp2
HG02129.hp2
NA18954.hp1
 intron_variant MODIFIER c.171+3399_171+3400i
others(423): Show 
c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGAGCTGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234634
chr1:39234634 G
G
 GGGCGGGG
others(414): Show 
GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG
CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA
CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC
CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC
CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC
TCCCGGATGGGGCAGCTGGCCT
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.171+3399_171+3400i
others(423): Show 
c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCTGGCGGGGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234634
chr1:39234634 G
G
 GGGCGGGG
others(414): Show 
GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG
GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGG
CGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA
GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA
CCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCC
CTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCC
CTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCC
TCCCGGATGGGGCGGCTGGCCT
 6 a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
others(3): Show 
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
 6 HG02132.hp1
HG02155.hp1
HG02523.hp1
others(3): Show 
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG03239.hp1
NA18960.hp1
NA19080.hp2
 intron_variant MODIFIER c.171+3399_171+3400i
others(423): Show 
c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGC
GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA
GAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234634
chr1:39234634 G
G
 GGGCGGGG
others(365): Show 
GGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTG
GCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG
CAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC
AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC
ACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTC
CCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC
CCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCC
CTCCCGGATGGGGCGGCTGGCCT
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.171+3399_171+3400i
others(374): Show 
c.171+3399_171+3400insCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC
AGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTG
ACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234634
chr1:39234634 G
G
 T
T
 177 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(174): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 177 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(174): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3391G>T
c.171+3391G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234634
chr1:39234638 G
G
 A
A
 1 a0017c0020t0001g0085
a0017c0020t0001g0085
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.171+3395G>A
c.171+3395G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234638
chr1:39234647 A
A
 ACCCC
ACCCC
 12 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
others(9): Show 
a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0012t0001g0058
a0001c0012t0001g0059
a0002c0003t0002g0093
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0041c0033t0001g0055
 12 HG01106.hp2
HG02129.hp2
HG02132.hp1
others(9): Show 
HG01106.hp2
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG03041.hp2
HG03130.hp1
HG03239.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA19080.hp2
 intron_variant MODIFIER c.171+3408_171+3411d
others(6): Show 
c.171+3408_171+3411dupCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(420): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGAGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCCCC
 2 a0001c0012t0001g0060
a0017c0020t0001g0086
a0001c0012t0001g0060
a0017c0020t0001g0086
 2 HG01433.hp1
HG03704.hp1
HG01433.hp1
HG03704.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(429): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGAGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT
GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG
ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC
CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT
GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC
GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(467): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 5 a0001c0040t0001g0014
a0004c0006t0001g0049
a0004c0011t0003g0169
others(2): Show 
a0001c0040t0001g0014
a0004c0006t0001g0049
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 5 HG02109.hp2
HG02280.hp1
HG02486.hp2
others(2): Show 
HG02109.hp2
HG02280.hp1
HG02486.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(476): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGA
CCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC
CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
AGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGG
GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(468): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0004c0011t0003g0167
a0004c0011t0003g0167
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.171+3422_171+3423i
others(477): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGA
CCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC
CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
AGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGG
GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(516): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC
GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG
GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG
CTGGCCTGGCGGGGGGCTGACCCC
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(525): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(467): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCC
 5 a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
others(2): Show 
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0030c0060t0001g0241
 5 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(2): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.171+3422_171+3423i
others(476): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTG
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA
CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACG
GGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(469): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0002c0003t0002g0231
a0002c0003t0002g0231
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.171+3422_171+3423i
others(478): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTG
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGA
CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACG
GGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGG
GGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(419): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCCC
 1 a0003c0002t0001g0161
a0003c0002t0001g0161
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.171+3422_171+3423i
others(428): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT
GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG
ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC
CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT
GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC
GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(420): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(429): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT
GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG
ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC
CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT
GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC
GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(468): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCC
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(477): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCT
GACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTG
ACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTC
CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA
CGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGAT
GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC
GGGGCGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(320): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGG
GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCTGGCGGGGGGCTGACCCC
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(329): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG
GACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGG
ATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGA
CGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT
GGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(320): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACG
GGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGCGGCTGGCCTGGCGGGGGGCTGACCC
 20 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(17): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0008c0010t0001g0208
a0033c0053t0001g0200
a0042c0052t0001g0201
 20 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(17): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03471.hp1
HG03486.hp2
HG03540.hp1
HG03579.hp2
NA18906.hp1
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.171+3422_171+3423i
others(329): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG
GACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGG
ATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAG
ACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(321): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACG
GGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGCGGCTGGCCTGGCGGGGGGCTGACCCC
 13 a0005c0008t0001g0210
a0005c0008t0007g0166
a0005c0009t0003g0218
others(10): Show 
a0005c0008t0001g0210
a0005c0008t0007g0166
a0005c0009t0003g0218
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
 13 HG01109.hp2
HG01884.hp2
HG02615.hp1
others(10): Show 
HG01109.hp2
HG01884.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp1
HG06807.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(330): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG
GACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGG
ATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAG
ACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA
TGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(323): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGAC
GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.171+3422_171+3423i
others(332): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGCGGGGGGC
TGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC
TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG
GACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGG
ATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCA
GACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG
ATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCCACCTCCCTC
CC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(467): Show 
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.171+3422_171+3423i
others(476): Show 
c.171+3422_171+3423insGGACGGGGCGGCTGGCCGGGTGGGGGCT
GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCCGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGA
CCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGAC
CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
AGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGG
GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCCCCACCTCCCTCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCCCCCC
others(274): Show 
ACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT
CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG
ACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGA
TGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGA
CGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT
GGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0017c0020t0001g0085
a0017c0020t0001g0085
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.171+3411_171+3412i
others(283): Show 
c.171+3411_171+3412insCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCC
CCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0004c0006t0001g0069
a0004c0006t0001g0069
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(519): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCCC
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(528): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(515): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC
GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG
GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG
CTGGCCTGGCGGGGGGCTGACCC
 2 a0004c0038t0001g0084
a0025c0030t0001g0067
a0004c0038t0001g0084
a0025c0030t0001g0067
 2 HG02280.hp2
HG03490.hp2
HG02280.hp2
HG03490.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(524): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(516): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC
GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG
GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG
CTGGCCTGGCGGGGGGCTGACCCC
 45 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
others(42): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0070
a0001c0001t0001g0087
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0037
a0001c0001t0006g0066
a0001c0017t0001g0028
a0001c0018t0002g0036
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0062
a0004c0006t0001g0075
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0035t0001g0063
a0011c0013t0001g0078
a0011c0013t0001g0079
a0032c0043t0001g0064
a0039c0042t0001g0021
a0043c0057t0001g0168
a0044c0032t0001g0102
a0052c0046t0001g0068
 45 HG00280.hp2
HG00438.hp1
HG00544.hp2
others(42): Show 
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01346.hp1
HG01361.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02257.hp2
HG02273.hp1
HG02615.hp2
HG02683.hp2
HG02886.hp1
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG03704.hp2
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19083.hp1
NA19086.hp2
NA19091.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(525): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC
GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG
GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGG
CTGGCCTGGCGGGGGGCTGACCCCC
 17 a0001c0001t0001g0015
a0001c0001t0001g0026
a0001c0001t0001g0027
others(14): Show 
a0001c0001t0001g0015
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0042
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0103
a0001c0001t0001g0107
a0001c0001t0002g0034
a0001c0001t0002g0088
a0001c0017t0001g0029
a0001c0018t0002g0047
a0004c0006t0001g0074
a0011c0013t0001g0076
 17 HG00140.hp1
HG00140.hp2
HG00558.hp1
others(14): Show 
HG00140.hp1
HG00140.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG01952.hp2
HG01981.hp1
HG02055.hp1
HG02071.hp2
HG02145.hp1
HG03098.hp1
HG03927.hp1
HG04204.hp2
NA18939.hp1
NA18980.hp1
NA19000.hp1
NA19085.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC
GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 1 a0051c0045t0012g0022
a0051c0045t0012g0022
 1 NA18974.hp2
NA18974.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC
GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0053c0077t0001g0020
a0053c0077t0001g0020
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 2 a0001c0001t0001g0017
a0004c0006t0001g0077
a0001c0001t0001g0017
a0004c0006t0001g0077
 2 HG01099.hp1
HG02074.hp1
HG01099.hp1
HG02074.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(522): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACG
GGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGCGGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0001c0001t0001g0018
a0001c0001t0001g0018
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(531): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC
CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCC
CCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 2 a0001c0001t0002g0032
a0002c0003t0002g0044
a0001c0001t0002g0032
a0002c0003t0002g0044
 2 HG00597.hp1
HG02135.hp1
HG00597.hp1
HG02135.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(519): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0004c0019t0001g0052
a0004c0019t0001g0052
 1 HG04115.hp2
HG04115.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(528): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCC
ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 2 a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0110
a0003c0002t0001g0111
 2 HG00642.hp2
HG00735.hp2
HG00642.hp2
HG00735.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0003c0002t0001g0108
a0003c0002t0001g0108
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(519): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0003c0002t0001g0109
a0003c0002t0001g0109
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(528): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTG
GCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTACGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 1 a0003c0002t0001g0114
a0003c0002t0001g0114
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTACGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(519): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTACGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0003c0002t0001g0152
a0003c0002t0001g0152
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(528): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTACGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCC
ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(516): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCC
 6 a0003c0002t0001g0128
a0006c0005t0001g0234
a0006c0005t0001g0236
others(3): Show 
a0003c0002t0001g0128
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0243
a0047c0068t0001g0129
 6 HG01106.hp1
HG02602.hp2
HG02647.hp2
others(3): Show 
HG01106.hp1
HG02602.hp2
HG02647.hp2
HG04204.hp1
NA18942.hp1
NA18971.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(525): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 29 a0002c0003t0002g0127
a0003c0002t0001g0115
a0003c0002t0001g0118
others(26): Show 
a0002c0003t0002g0127
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0143
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0242
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
 29 HG00280.hp1
HG00609.hp1
HG00639.hp1
others(26): Show 
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG01361.hp2
HG01981.hp2
HG02004.hp1
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02809.hp1
HG03239.hp2
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18943.hp2
NA18960.hp2
NA18973.hp2
NA18975.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 11 a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0138
others(8): Show 
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0002g0137
a0010c0016t0004g0140
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 11 HG00544.hp1
HG00558.hp2
HG00741.hp1
others(8): Show 
HG00544.hp1
HG00558.hp2
HG00741.hp1
HG01433.hp2
HG01952.hp1
HG02135.hp2
NA18966.hp2
NA18980.hp2
NA18990.hp2
NA18999.hp2
NA19000.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 16 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0180
others(13): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0180
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0246
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 16 HG01081.hp1
HG01167.hp2
HG02040.hp2
others(13): Show 
HG01081.hp1
HG01167.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA20805.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCC
 4 a0002c0003t0002g0113
a0002c0003t0002g0181
a0002c0003t0002g0182
others(1): Show 
a0002c0003t0002g0113
a0002c0003t0002g0181
a0002c0003t0002g0182
a0029c0061t0003g0232
 4 HG01346.hp2
HG02155.hp2
HG03195.hp2
others(1): Show 
HG01346.hp2
HG02155.hp2
HG03195.hp2
NA19080.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(519): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCTGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0002c0015t0002g0112
a0002c0015t0002g0112
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(528): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 1 a0003c0002t0001g0146
a0003c0002t0001g0146
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGTGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTACGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCC
 1 a0003c0002t0001g0142
a0003c0002t0001g0142
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTACGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(567): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCGC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCC
CCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT
TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGC
GGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTG
GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCG
GCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCGG
CTGGCCTGGCGGGGGGCTGACCCCC
 2 a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0183
a0002c0003t0002g0184
 2 NA19084.hp2
NA19088.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(576): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCG
GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC
CTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCAC
CTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC
CTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(520): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0003c0002t0001g0147
a0003c0002t0001g0147
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(529): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
CACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(418): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCC
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(427): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCC
CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(419): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCCC
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(428): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCC
CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(517): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCC
 4 a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
others(1): Show 
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 4 HG02109.hp1
HG03453.hp2
HG03471.hp2
others(1): Show 
HG02109.hp1
HG03453.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(526): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTAACCCCCCCA
CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCCC
 3 a0015c0022t0001g0005
a0015c0022t0001g0007
a0037c0058t0001g0245
a0015c0022t0001g0005
a0015c0022t0001g0007
a0037c0058t0001g0245
 3 HG01243.hp2
HG02572.hp2
NA18522.hp2
HG01243.hp2
HG02572.hp2
NA18522.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTAACCCCCCCA
CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(370): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT
CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG
AGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGG
GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGG
GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCTGGCGGGGGGCTGACCCC
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(379): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC
GCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCC
CCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCC
CCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(790): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCAGAGGAGCTCC
TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGTGCCCCTCACCTCCCGGAC
GGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG
GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG
GGCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG
CGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCG
GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGG
CTGGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCC
CCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCC
 1 a0001c0001t0001g0071
a0001c0001t0001g0071
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(799): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCTGGCAGAGGAGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGG
TGCCCCTCACCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCC
CCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGCCC
CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCAC
CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC
TCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCGCCCCACCT
CCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCGCCTC
CCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT
AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGGCGGCTGGC
TGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGTGGCTGGCC
GGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCG
GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCT
GGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(518): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAG
GCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG
TGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGG
CGGCTGGCGGGGCGGGGGGCTAACCCCCCCACCTCCCTCCCGGATGGGGC
GGCTGGCCTGGCGGGGGGCTGACCCC
 1 a0001c0062t0001g0006
a0001c0062t0001g0006
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.171+3406_171+3407i
others(527): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCTGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC
ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC
ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTAACCCCCCCA
CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(418): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG
GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGG
CGGCTGGCCTGGCGGGGGGCTGACCC
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(427): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCC
CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC
CACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCC
ACCTCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(519): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC
CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACCG
CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCCC
CCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC
TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGAGG
CGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGT
GGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGC
GGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGGCG
GCTGGCCTGGCGGGGGGCTGACCCCCC
 1 a0016c0026t0001g0174
a0016c0026t0001g0174
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(528): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCC
GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC
CCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCA
CCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCA
CCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCAC
CTCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(519): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC
CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGACC
GCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACCC
CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC
ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA
GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCAGACGG
GGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG
GCGGCTGGCCTGGCGGGGGGCTGACCC
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(528): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG
CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG
CCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCC
CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC
CCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCC
CACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234647 A
A
 ACCGCCCC
others(523): Show 
ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTG
ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA
CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC
CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGAC
CCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC
TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC
GAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCCACCTCCCTCCCGGAT
GGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGAC
GGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG
GGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
 1 a0003c0002t0001g0124
a0003c0002t0001g0124
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.171+3406_171+3407i
others(532): Show 
c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC
TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT
GGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTG
GCCGGGCAGGGGGGCTGACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCT
GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG
CGCCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCC
CCCCACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC
CCCCACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCC
CCCACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC
CC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234647
chr1:39234686 G
G
 T
T
 1 a0049c0067t0001g0116
a0049c0067t0001g0116
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.171+3443G>T
c.171+3443G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234686
chr1:39234715 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.171+3472G>A
c.171+3472G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234715
chr1:39234739 A
A
 C
C
 3 a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 3 HG02132.hp2
NA18987.hp1
NA19011.hp2
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.171+3496A>C
c.171+3496A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234739
chr1:39234753 G
G
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+3510G>A
c.171+3510G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234753
chr1:39234798 C
C
 T
T
 4 a0001c0001t0001g0061
a0003c0002t0001g0115
a0003c0002t0001g0147
others(1): Show 
a0001c0001t0001g0061
a0003c0002t0001g0115
a0003c0002t0001g0147
a0003c0002t0001g0155
 4 HG00280.hp1
HG02738.hp1
HG03130.hp1
others(1): Show 
HG00280.hp1
HG02738.hp1
HG03130.hp1
HG03540.hp2
 intron_variant MODIFIER c.171+3555C>T
c.171+3555C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234798
chr1:39234817 C
C
 T
T
 2 a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0110
a0003c0002t0001g0111
 2 HG00642.hp2
HG00735.hp2
HG00642.hp2
HG00735.hp2
 intron_variant MODIFIER c.171+3574C>T
c.171+3574C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234817
chr1:39234818 CTCCCAGA
others(33): Show 
CTCCCAGACGGGGTCGCGGCTGGGCAGAGGTGCTCCTCACA
 C
C
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3588_171+3627d
others(42): Show 
c.171+3588_171+3627delTCGCGGCTGGGCAGAGGTGCTCCTCACA
TCCCAGACGGGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39234818
chr1:39234910 C
C
 T
T
 110 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(107): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 110 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(107): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+3667C>T
c.171+3667C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39234910
chr1:39235047 T
T
 C
C
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.171+3804T>C
c.171+3804T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235047
chr1:39235054 C
C
 G
G
 2 a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0004t0001g0202
a0002c0004t0011g0194
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.171+3811C>G
c.171+3811C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235054
chr1:39235099 G
G
 A
A
 1 a0002c0003t0002g0188
a0002c0003t0002g0188
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.171+3856G>A
c.171+3856G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235099
chr1:39235107 G
G
 A
A
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.171+3864G>A
c.171+3864G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235107
chr1:39235111 G
G
 A
A
 3 a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 3 HG02132.hp2
NA18987.hp1
NA19011.hp2
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.171+3868G>A
c.171+3868G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235111
chr1:39235125 A
A
 G
G
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.171+3882A>G
c.171+3882A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235125
chr1:39235129 C
C
 T
T
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.171+3886C>T
c.171+3886C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235129
chr1:39235268 C
C
 T
T
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+4025C>T
c.171+4025C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235268
chr1:39235324 C
C
 T
T
 1 a0053c0077t0001g0020
a0053c0077t0001g0020
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.171+4081C>T
c.171+4081C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235324
chr1:39235495 C
C
 G
G
 1 a0001c0017t0001g0028
a0001c0017t0001g0028
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.171+4252C>G
c.171+4252C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235495
chr1:39235747 C
C
 G
G
 2 a0004c0006t0001g0069
a0052c0046t0001g0068
a0004c0006t0001g0069
a0052c0046t0001g0068
 2 HG01069.hp1
HG03209.hp1
HG01069.hp1
HG03209.hp1
 intron_variant MODIFIER c.171+4504C>G
c.171+4504C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235747
chr1:39235827 C
C
 T
T
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+4584C>T
c.171+4584C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235827
chr1:39235926 T
T
 C
C
 2 a0028c0050t0008g0233
a0029c0061t0003g0232
a0028c0050t0008g0233
a0029c0061t0003g0232
 2 HG02965.hp1
HG03195.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.171+4683T>C
c.171+4683T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235926
chr1:39235984 C
C
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.171+4741C>T
c.171+4741C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235984
chr1:39235985 A
A
 T
T
 1 a0010c0016t0004g0136
a0010c0016t0004g0136
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.171+4742A>T
c.171+4742A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39235985
chr1:39236058 C
C
 T
T
 1 a0001c0001t0001g0030
a0001c0001t0001g0030
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.171+4815C>T
c.171+4815C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236058
chr1:39236394 C
C
 A
A
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.171+5151C>A
c.171+5151C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236394
chr1:39236434 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.171+5191A>G
c.171+5191A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236434
chr1:39236547 T
T
 C
C
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.171+5304T>C
c.171+5304T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236547
chr1:39236706 G
G
 A
A
 1 a0003c0002t0001g0154
a0003c0002t0001g0154
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.171+5463G>A
c.171+5463G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236706
chr1:39236752 C
C
 T
T
 2 a0028c0050t0008g0233
a0029c0061t0003g0232
a0028c0050t0008g0233
a0029c0061t0003g0232
 2 HG02965.hp1
HG03195.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.171+5509C>T
c.171+5509C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236752
chr1:39236801 A
A
 G
G
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.171+5558A>G
c.171+5558A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236801
chr1:39236863 A
A
 G
G
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.171+5620A>G
c.171+5620A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39236863
chr1:39237023 T
T
 G
G
 197 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(194): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+5780T>G
c.171+5780T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237023
chr1:39237076 T
T
 G
G
 2 a0028c0050t0008g0233
a0029c0061t0003g0232
a0028c0050t0008g0233
a0029c0061t0003g0232
 2 HG02965.hp1
HG03195.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.171+5833T>G
c.171+5833T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237076
chr1:39237188 T
T
 A
A
 1 a0022c0072t0001g0209
a0022c0072t0001g0209
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.171+5945T>A
c.171+5945T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237188
chr1:39237330 A
A
 G
G
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.171+6087A>G
c.171+6087A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237330
chr1:39237442 C
C
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.171+6199C>A
c.171+6199C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237442
chr1:39237478 C
C
 T
T
 1 a0003c0002t0001g0125
a0003c0002t0001g0125
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.171+6235C>T
c.171+6235C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237478
chr1:39237499 A
A
 G
G
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.171+6256A>G
c.171+6256A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237499
chr1:39237572 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.171+6329A>G
c.171+6329A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237572
chr1:39237646 A
A
 G
G
 4 a0003c0002t0001g0135
a0003c0002t0001g0148
a0003c0002t0001g0156
others(1): Show 
a0003c0002t0001g0135
a0003c0002t0001g0148
a0003c0002t0001g0156
a0048c0065t0001g0141
 4 HG02135.hp2
NA18939.hp2
NA18975.hp2
others(1): Show 
HG02135.hp2
NA18939.hp2
NA18975.hp2
NA19084.hp1
 intron_variant MODIFIER c.171+6403A>G
c.171+6403A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237646
chr1:39237947 T
T
 G
G
 2 a0002c0025t0001g0001
a0026c0049t0001g0002
a0002c0025t0001g0001
a0026c0049t0001g0002
 2 HG03471.hp2
NA20129.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+6704T>G
c.171+6704T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39237947
chr1:39238073 A
A
 G
G
 1 a0001c0017t0001g0028
a0001c0017t0001g0028
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.171+6830A>G
c.171+6830A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238073
chr1:39238114 G
G
 A
A
 2 a0001c0062t0001g0006
a0015c0022t0001g0007
a0001c0062t0001g0006
a0015c0022t0001g0007
 2 HG02572.hp2
NA19030.hp2
HG02572.hp2
NA19030.hp2
 intron_variant MODIFIER c.171+6871G>A
c.171+6871G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238114
chr1:39238148 G
G
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.171+6905G>A
c.171+6905G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238148
chr1:39238175 G
G
 A
A
 48 a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
others(45): Show 
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.171+6932G>A
c.171+6932G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238175
chr1:39238177 C
C
 T
T
 1 a0001c0017t0001g0028
a0001c0017t0001g0028
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.171+6934C>T
c.171+6934C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238177
chr1:39238190 C
C
 T
T
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.171+6947C>T
c.171+6947C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238190
chr1:39238198 G
G
 A
A
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.171+6955G>A
c.171+6955G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238198
chr1:39238256 C
C
 T
T
 1 a0001c0012t0001g0058
a0001c0012t0001g0058
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.171+7013C>T
c.171+7013C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238256
chr1:39238417 C
C
 G
G
 1 a0002c0003t0002g0184
a0002c0003t0002g0184
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.171+7174C>G
c.171+7174C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238417
chr1:39238700 A
A
 G
G
 4 a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
others(1): Show 
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 4 HG02109.hp1
HG03453.hp2
HG03471.hp2
others(1): Show 
HG02109.hp1
HG03453.hp2
HG03471.hp2
NA20129.hp2
 intron_variant MODIFIER c.171+7457A>G
c.171+7457A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238700
chr1:39238713 G
G
 A
A
 1 a0015c0022t0001g0005
a0015c0022t0001g0005
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.171+7470G>A
c.171+7470G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238713
chr1:39238773 A
A
 G
G
 2 a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0024t0001g0198
a0002c0024t0001g0203
 2 HG00639.hp2
HG02809.hp2
HG00639.hp2
HG02809.hp2
 intron_variant MODIFIER c.171+7530A>G
c.171+7530A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238773
chr1:39238833 T
T
 G
G
 1 a0044c0032t0001g0102
a0044c0032t0001g0102
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.171+7590T>G
c.171+7590T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238833
chr1:39238906 C
C
 T
T
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.171+7663C>T
c.171+7663C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39238906
chr1:39239075 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.171+7832G>A
c.171+7832G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39239075
chr1:39239195 C
C
 T
T
 1 a0001c0001t0002g0034
a0001c0001t0002g0034
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.171+7952C>T
c.171+7952C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39239195
chr1:39239196 G
G
 A
A
 3 a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
 3 HG01106.hp1
HG02602.hp2
HG03239.hp2
HG01106.hp1
HG02602.hp2
HG03239.hp2
 intron_variant MODIFIER c.171+7953G>A
c.171+7953G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39239196
chr1:39239284 AAAAC
AAAAC
 A
A
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0047t0001g0189
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0017c0020t0001g0085
a0017c0020t0001g0086
a0024c0076t0003g0222
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+8069_171+8072d
others(6): Show 
c.171+8069_171+8072delCAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39239284
chr1:39239284 AAAACAAA
others(1): Show 
AAAACAAAC
 A
A
 5 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(2): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0029c0061t0003g0232
 5 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(2): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03195.hp2
NA20129.hp1
 intron_variant MODIFIER c.171+8065_171+8072d
others(10): Show 
c.171+8065_171+8072delCAAACAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39239284
chr1:39239543 A
A
 C
C
 1 a0048c0065t0001g0141
a0048c0065t0001g0141
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.171+8300A>C
c.171+8300A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39239543
chr1:39239615 C
C
 A
A
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.171+8372C>A
c.171+8372C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39239615
chr1:39239786 A
A
 C
C
 89 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 89 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+8543A>C
c.171+8543A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39239786
chr1:39239916 G
G
 A
A
 1 a0001c0036t0002g0035
a0001c0036t0002g0035
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.171+8673G>A
c.171+8673G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39239916
chr1:39240013 G
G
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.171+8770G>A
c.171+8770G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240013
chr1:39240202 G
G
 A
A
 12 a0001c0001t0001g0065
a0004c0006t0001g0062
a0004c0006t0001g0069
others(9): Show 
a0001c0001t0001g0065
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0025c0030t0001g0067
a0052c0046t0001g0068
 12 HG00140.hp2
HG00280.hp2
HG01069.hp1
others(9): Show 
HG00140.hp2
HG00280.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG02280.hp2
HG02683.hp2
HG03209.hp1
HG03490.hp2
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.171+8959G>A
c.171+8959G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240202
chr1:39240271 G
G
 A
A
 2 a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0183
a0002c0003t0002g0184
 2 NA19084.hp2
NA19088.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.171+9028G>A
c.171+9028G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240271
chr1:39240326 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.171+9083C>T
c.171+9083C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240326
chr1:39240336 G
G
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.171+9093G>A
c.171+9093G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240336
chr1:39240562 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.171+9319G>A
c.171+9319G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240562
chr1:39240593 G
G
 A
A
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.171+9350G>A
c.171+9350G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240593
chr1:39240656 G
G
 A
A
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.172-9358G>A
c.172-9358G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39240656
chr1:39241050 G
G
 GT
GT
 12 a0001c0001t0001g0061
a0001c0017t0001g0029
a0006c0005t0001g0234
others(9): Show 
a0001c0001t0001g0061
a0001c0017t0001g0029
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0244
a0030c0060t0001g0241
a0049c0067t0001g0116
 12 HG01433.hp2
HG02071.hp2
HG02572.hp1
others(9): Show 
HG01433.hp2
HG02071.hp2
HG02572.hp1
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03130.hp1
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-8947dupT
c.172-8947dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39241050
chr1:39241050 GT
GT
 G
G
 17 a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
others(14): Show 
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0015c0022t0001g0005
a0033c0053t0001g0200
a0042c0052t0001g0201
 17 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(14): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.172-8947delT
c.172-8947delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39241050
chr1:39241132 A
A
 G
G
 1 a0002c0024t0001g0203
a0002c0024t0001g0203
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.172-8882A>G
c.172-8882A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39241132
chr1:39241288 A
A
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-8726A>G
c.172-8726A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39241288
chr1:39241352 G
G
 C
C
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.172-8662G>C
c.172-8662G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39241352
chr1:39241458 G
G
 A
A
 4 a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
others(1): Show 
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0043c0057t0001g0168
 4 HG01243.hp1
HG02132.hp2
NA18987.hp1
others(1): Show 
HG01243.hp1
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.172-8556G>A
c.172-8556G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39241458
chr1:39241621 C
C
 G
G
 1 a0023c0074t0001g0206
a0023c0074t0001g0206
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.172-8393C>G
c.172-8393C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39241621
chr1:39241629 C
C
 T
T
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.172-8385C>T
c.172-8385C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39241629
chr1:39241659 C
C
 CA
CA
 31 a0001c0001t0001g0018
a0001c0001t0001g0030
a0001c0001t0001g0048
others(28): Show 
a0001c0001t0001g0018
a0001c0001t0001g0030
a0001c0001t0001g0048
a0001c0012t0001g0058
a0001c0031t0001g0106
a0002c0003t0002g0228
a0002c0025t0001g0001
a0002c0025t0001g0191
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0011c0013t0001g0078
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0036c0048t0001g0008
a0038c0054t0002g0178
a0040c0051t0001g0205
 31 HG00735.hp1
HG01261.hp2
HG01981.hp1
others(28): Show 
HG00735.hp1
HG01261.hp2
HG01981.hp1
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA18981.hp1
NA18983.hp2
NA19010.hp1
NA19030.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.172-8332dupA
c.172-8332dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39241659
chr1:39241659 C
C
 CAA
CAA
 44 a0001c0062t0001g0006
a0002c0003t0002g0127
a0003c0002t0001g0114
others(41): Show 
a0001c0062t0001g0006
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0125
a0003c0002t0001g0128
a0003c0002t0001g0134
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0006c0005t0001g0237
a0009c0014t0001g0190
a0009c0014t0010g0225
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0132
a0037c0058t0001g0245
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0050c0069t0001g0123
 44 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(41): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp2
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01361.hp2
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02129.hp1
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03041.hp1
HG03130.hp2
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19030.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
 intron_variant MODIFIER c.172-8333_172-8332d
others(4): Show 
c.172-8333_172-8332dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39241659
chr1:39241659 C
C
 CAAA
CAAA
 12 a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
others(9): Show 
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0160
a0009c0014t0009g0192
a0009c0047t0001g0189
a0019c0028t0001g0130
a0048c0065t0001g0141
a0049c0067t0001g0116
 12 HG00639.hp1
HG00741.hp1
HG01069.hp2
others(9): Show 
HG00639.hp1
HG00741.hp1
HG01069.hp2
HG01261.hp1
HG01433.hp2
HG01952.hp1
HG02074.hp2
HG02135.hp2
HG03579.hp1
NA19000.hp2
NA19011.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-8334_172-8332d
others(5): Show 
c.172-8334_172-8332dupAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39241659
chr1:39241659 CA
CA
 C
C
 12 a0001c0001t0001g0089
a0002c0003t0002g0188
a0003c0002t0001g0108
others(9): Show 
a0001c0001t0001g0089
a0002c0003t0002g0188
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0005c0009t0003g0217
a0022c0072t0001g0209
a0023c0074t0001g0206
a0028c0050t0008g0233
a0029c0061t0003g0232
a0032c0043t0001g0064
 12 HG00642.hp2
HG00735.hp2
HG01884.hp2
others(9): Show 
HG00642.hp2
HG00735.hp2
HG01884.hp2
HG02602.hp1
HG02615.hp1
HG02965.hp1
HG02976.hp1
HG03195.hp2
HG03704.hp2
HG03927.hp2
NA18990.hp1
NA20805.hp2
 intron_variant MODIFIER c.172-8332delA
c.172-8332delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39241659
chr1:39241659 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 1 a0002c0004t0001g0223
a0002c0004t0001g0223
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.172-8343_172-8332d
others(14): Show 
c.172-8343_172-8332delAAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39241659
chr1:39241705 C
C
 T
T
 1 a0002c0004t0001g0204
a0002c0004t0001g0204
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.172-8309C>T
c.172-8309C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39241705
chr1:39242349 C
C
 CA
CA
 51 a0001c0001t0001g0104
a0002c0003t0002g0127
a0002c0015t0002g0112
others(48): Show 
a0001c0001t0001g0104
a0002c0003t0002g0127
a0002c0015t0002g0112
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0015c0022t0001g0007
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18987.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-7650dupA
c.172-7650dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39242349
chr1:39242593 A
A
 G
G
 1 a0003c0002t0001g0124
a0003c0002t0001g0124
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.172-7421A>G
c.172-7421A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39242593
chr1:39242630 G
G
 A
A
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-7384G>A
c.172-7384G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39242630
chr1:39242736 CA
CA
 C
C
 164 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(161): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0152
a0003c0002t0001g0155
a0003c0002t0001g0159
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0009g0192
a0009c0014t0010g0225
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 164 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-7257delA
c.172-7257delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39242736
chr1:39242736 CAA
CAA
 C
C
 56 a0002c0003t0002g0127
a0002c0004t0001g0202
a0002c0004t0001g0204
others(53): Show 
a0002c0003t0002g0127
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0005g0162
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0033c0053t0001g0200
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 56 HG00544.hp1
HG00558.hp2
HG00609.hp1
others(53): Show 
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG03490.hp1
HG03540.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-7258_172-7257d
others(4): Show 
c.172-7258_172-7257delAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39242736
chr1:39242744 A
A
 G
G
 102 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(99): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 102 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-7270A>G
c.172-7270A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39242744
chr1:39242795 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.172-7219A>G
c.172-7219A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39242795
chr1:39243031 G
G
 A
A
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-6983G>A
c.172-6983G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243031
chr1:39243039 C
C
 T
T
 1 a0003c0002t0001g0154
a0003c0002t0001g0154
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.172-6975C>T
c.172-6975C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243039
chr1:39243066 G
G
 T
T
 1 a0002c0003t0002g0231
a0002c0003t0002g0231
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.172-6948G>T
c.172-6948G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243066
chr1:39243075 G
G
 A
A
 1 a0006c0005t0001g0235
a0006c0005t0001g0235
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.172-6939G>A
c.172-6939G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243075
chr1:39243153 C
C
 T
T
 2 a0028c0050t0008g0233
a0029c0061t0003g0232
a0028c0050t0008g0233
a0029c0061t0003g0232
 2 HG02965.hp1
HG03195.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.172-6861C>T
c.172-6861C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243153
chr1:39243207 G
G
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.172-6807G>A
c.172-6807G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243207
chr1:39243308 T
T
 C
C
 1 a0003c0071t0001g0120
a0003c0071t0001g0120
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.172-6706T>C
c.172-6706T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243308
chr1:39243377 A
A
 G
G
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.172-6637A>G
c.172-6637A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243377
chr1:39243441 G
G
 A
A
 1 a0045c0070t0001g0144
a0045c0070t0001g0144
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.172-6573G>A
c.172-6573G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243441
chr1:39243617 G
G
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-6397G>A
c.172-6397G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243617
chr1:39243627 T
T
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-6387T>C
c.172-6387T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243627
chr1:39243896 G
G
 A
A
 1 a0007c0007t0001g0056
a0007c0007t0001g0056
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.172-6118G>A
c.172-6118G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243896
chr1:39243926 A
A
 T
T
 2 a0003c0002t0001g0134
a0003c0002t0001g0143
a0003c0002t0001g0134
a0003c0002t0001g0143
 2 NA18943.hp2
NA19088.hp1
NA18943.hp2
NA19088.hp1
 intron_variant MODIFIER c.172-6088A>T
c.172-6088A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39243926
chr1:39244061 C
C
 A
A
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.172-5953C>A
c.172-5953C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244061
chr1:39244118 T
T
 G
G
 2 a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0033
a0001c0001t0002g0034
 2 HG00597.hp2
NA18953.hp1
HG00597.hp2
NA18953.hp1
 intron_variant MODIFIER c.172-5896T>G
c.172-5896T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244118
chr1:39244120 G
G
 T
T
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.172-5894G>T
c.172-5894G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244120
chr1:39244135 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.172-5879C>T
c.172-5879C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244135
chr1:39244158 G
G
 A
A
 1 a0004c0006t0001g0062
a0004c0006t0001g0062
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.172-5856G>A
c.172-5856G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244158
chr1:39244251 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-5763C>T
c.172-5763C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244251
chr1:39244305 G
G
 C
C
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.172-5709G>C
c.172-5709G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244305
chr1:39244563 G
G
 A
A
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.172-5451G>A
c.172-5451G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244563
chr1:39244581 A
A
 AT
AT
 31 a0001c0001t0006g0066
a0002c0004t0001g0009
a0002c0004t0001g0010
others(28): Show 
a0001c0001t0006g0066
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 31 HG00639.hp2
HG01106.hp1
HG01884.hp1
others(28): Show 
HG00639.hp2
HG01106.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02976.hp2
HG03239.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG04115.hp1
HG04204.hp1
NA18906.hp2
NA19010.hp1
NA20129.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.172-5419dupT
c.172-5419dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39244581
chr1:39244626 G
G
 T
T
 1 a0005c0009t0003g0216
a0005c0009t0003g0216
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.172-5388G>T
c.172-5388G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244626
chr1:39244638 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-5376C>T
c.172-5376C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244638
chr1:39244787 T
T
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-5227T>C
c.172-5227T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244787
chr1:39244801 A
A
 G
G
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.172-5213A>G
c.172-5213A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39244801
chr1:39245097 T
T
 C
C
 1 a0050c0069t0001g0123
a0050c0069t0001g0123
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.172-4917T>C
c.172-4917T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39245097
chr1:39245300 T
T
 C
C
 1 a0008c0010t0001g0208
a0008c0010t0001g0208
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.172-4714T>C
c.172-4714T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39245300
chr1:39245444 C
C
 T
T
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.172-4570C>T
c.172-4570C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39245444
chr1:39246258 C
C
 T
T
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-3756C>T
c.172-3756C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39246258
chr1:39246278 AAAGTT
AAAGTT
 A
A
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-3730_172-3726d
others(7): Show 
c.172-3730_172-3726delAAGTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39246278
chr1:39246844 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.172-3170A>G
c.172-3170A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39246844
chr1:39246907 C
C
 CT
CT
 35 a0001c0001t0001g0038
a0002c0003t0001g0186
a0002c0003t0001g0187
others(32): Show 
a0001c0001t0001g0038
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0122
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0013c0023t0001g0003
a0013c0023t0001g0004
a0016c0026t0001g0173
a0016c0026t0001g0174
a0026c0049t0001g0002
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0038c0054t0002g0178
 35 HG00280.hp2
HG00438.hp2
HG00741.hp1
others(32): Show 
HG00280.hp2
HG00438.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG03453.hp2
HG03471.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19030.hp1
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-3093dupT
c.172-3093dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39246907
chr1:39247068 A
A
 AT
AT
 102 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(99): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0004t0001g0010
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0114
a0003c0002t0001g0131
a0003c0002t0001g0161
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0052c0046t0001g0068
a0053c0077t0001g0020
 102 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18995.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-2924dupT
c.172-2924dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39247068
chr1:39247068 A
A
 ATT
ATT
 14 a0001c0001t0001g0070
a0001c0001t0001g0089
a0001c0001t0001g0091
others(11): Show 
a0001c0001t0001g0070
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0018t0002g0036
a0001c0018t0002g0047
a0007c0007t0001g0101
a0051c0045t0012g0022
 14 HG00544.hp2
HG00597.hp2
HG00609.hp2
others(11): Show 
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG01081.hp2
HG02055.hp1
HG02135.hp1
HG02523.hp1
NA18943.hp1
NA18953.hp1
NA18974.hp2
NA18990.hp1
NA18999.hp1
NA19000.hp1
NA19083.hp1
 intron_variant MODIFIER c.172-2925_172-2924d
others(4): Show 
c.172-2925_172-2924dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39247068
chr1:39247068 AT
AT
 A
A
 11 a0002c0003t0002g0185
a0004c0011t0003g0169
a0004c0011t0003g0170
others(8): Show 
a0002c0003t0002g0185
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 11 HG01069.hp2
HG01243.hp1
HG02109.hp2
others(8): Show 
HG01069.hp2
HG01243.hp1
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03130.hp2
HG03579.hp1
HG06807.hp1
NA18986.hp1
 intron_variant MODIFIER c.172-2924delT
c.172-2924delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39247068
chr1:39247104 G
G
 T
T
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.172-2910G>T
c.172-2910G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247104
chr1:39247111 T
T
 C
C
 197 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(194): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-2903T>C
c.172-2903T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247111
chr1:39247217 C
C
 T
T
 1 a0003c0002t0001g0118
a0003c0002t0001g0118
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.172-2797C>T
c.172-2797C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247217
chr1:39247265 G
G
 T
T
 1 a0003c0002t0001g0111
a0003c0002t0001g0111
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.172-2749G>T
c.172-2749G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247265
chr1:39247441 C
C
 T
T
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-2573C>T
c.172-2573C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247441
chr1:39247797 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-2217C>T
c.172-2217C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247797
chr1:39247837 C
C
 A
A
 4 a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0146
others(1): Show 
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0146
a0003c0002t0002g0137
 4 HG01099.hp2
NA18960.hp2
NA18990.hp2
others(1): Show 
HG01099.hp2
NA18960.hp2
NA18990.hp2
NA19011.hp1
 intron_variant MODIFIER c.172-2177C>A
c.172-2177C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247837
chr1:39247915 G
G
 A
A
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.172-2099G>A
c.172-2099G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247915
chr1:39247928 A
A
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.172-2086A>G
c.172-2086A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247928
chr1:39247976 T
T
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-2038T>C
c.172-2038T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39247976
chr1:39248188 G
G
 T
T
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.172-1826G>T
c.172-1826G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248188
chr1:39248229 G
G
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.172-1785G>A
c.172-1785G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248229
chr1:39248236 C
C
 G
G
 1 a0003c0002t0001g0111
a0003c0002t0001g0111
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.172-1778C>G
c.172-1778C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248236
chr1:39248250 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.172-1764C>T
c.172-1764C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248250
chr1:39248251 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.172-1763G>A
c.172-1763G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248251
chr1:39248509 G
G
 C
C
 173 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(170): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 173 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(170): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-1505G>C
c.172-1505G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248509
chr1:39248566 T
T
 A
A
 110 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(107): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 110 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(107): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-1448T>A
c.172-1448T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248566
chr1:39248602 C
C
 CAA
CAA
 110 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(107): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 110 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(107): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-1409_172-1408d
others(4): Show 
c.172-1409_172-1408dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39248602
chr1:39248602 C
C
 CGA
CGA
 87 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(84): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 87 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(84): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.172-1412_172-1411i
others(4): Show 
c.172-1412_172-1411insGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248602
chr1:39248642 G
G
 A
A
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.172-1372G>A
c.172-1372G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248642
chr1:39248817 T
T
 C
C
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.172-1197T>C
c.172-1197T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248817
chr1:39248836 C
C
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.172-1178C>G
c.172-1178C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248836
chr1:39248936 C
C
 T
T
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.172-1078C>T
c.172-1078C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248936
chr1:39248947 C
C
 T
T
 1 a0002c0003t0002g0180
a0002c0003t0002g0180
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.172-1067C>T
c.172-1067C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39248947
chr1:39249069 G
G
 A
A
 1 a0002c0003t0002g0093
a0002c0003t0002g0093
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.172-945G>A
c.172-945G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249069
chr1:39249100 A
A
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.172-914A>G
c.172-914A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249100
chr1:39249105 CACTTA
CACTTA
 C
C
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.172-903_172-899del
others(5): Show 
c.172-903_172-899delACTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 INFO_REALIGN_3_PRIME chr1 39249105
chr1:39249132 A
A
 C
C
 1 a0002c0004t0001g0204
a0002c0004t0001g0204
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.172-882A>C
c.172-882A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249132
chr1:39249159 T
T
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.172-855T>C
c.172-855T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249159
chr1:39249215 A
A
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.172-799A>G
c.172-799A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249215
chr1:39249307 G
G
 A
A
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.172-707G>A
c.172-707G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249307
chr1:39249534 G
G
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.172-480G>A
c.172-480G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249534
chr1:39249597 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.172-417G>A
c.172-417G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249597
chr1:39249712 A
A
 G
G
 173 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(170): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 173 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(170): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.172-302A>G
c.172-302A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 2/100 chr1 39249712
chr1:39250185 C
C
 CA
CA
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.261+83dupA
c.261+83dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 INFO_REALIGN_3_PRIME chr1 39250185
chr1:39250403 C
C
 T
T
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.261+300C>T
c.261+300C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39250403
chr1:39250424 T
T
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.261+321T>G
c.261+321T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39250424
chr1:39250568 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.261+465A>G
c.261+465A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39250568
chr1:39250694 GATTA
GATTA
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.261+598_261+601del
others(4): Show 
c.261+598_261+601delTAAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 INFO_REALIGN_3_PRIME chr1 39250694
chr1:39250938 A
A
 C
C
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.261+835A>C
c.261+835A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39250938
chr1:39251172 C
C
 CT
CT
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.262-665dupT
c.262-665dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 INFO_REALIGN_3_PRIME chr1 39251172
chr1:39251230 A
A
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.262-616A>G
c.262-616A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39251230
chr1:39251287 G
G
 A
A
 9 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(6): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
 9 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(6): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.262-559G>A
c.262-559G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39251287
chr1:39251302 A
A
 G
G
 1 a0044c0032t0001g0102
a0044c0032t0001g0102
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.262-544A>G
c.262-544A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39251302
chr1:39251467 G
G
 A
A
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.262-379G>A
c.262-379G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39251467
chr1:39251584 C
C
 G
G
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.262-262C>G
c.262-262C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39251584
chr1:39251718 C
C
 T
T
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.262-128C>T
c.262-128C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 3/100 chr1 39251718
chr1:39252416 C
C
 T
T
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.357+475C>T
c.357+475C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252416
chr1:39252557 C
C
 T
T
 1 a0004c0006t0001g0077
a0004c0006t0001g0077
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.357+616C>T
c.357+616C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252557
chr1:39252606 G
G
 GT
GT
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.357+665_357+666ins
others(1): Show 
c.357+665_357+666insT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252606
chr1:39252626 C
C
 G
G
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.357+685C>G
c.357+685C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252626
chr1:39252807 C
C
 G
G
 1 a0001c0012t0001g0059
a0001c0012t0001g0059
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.357+866C>G
c.357+866C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252807
chr1:39252838 A
A
 T
T
 223 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(220): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 223 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(220): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.357+897A>T
c.357+897A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252838
chr1:39252896 G
G
 A
A
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.357+955G>A
c.357+955G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252896
chr1:39252989 C
C
 T
T
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.357+1048C>T
c.357+1048C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39252989
chr1:39253033 C
C
 T
T
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.357+1092C>T
c.357+1092C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253033
chr1:39253099 C
C
 T
T
 1 a0010c0064t0004g0133
a0010c0064t0004g0133
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.357+1158C>T
c.357+1158C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253099
chr1:39253231 G
G
 A
A
 1 a0006c0005t0001g0237
a0006c0005t0001g0237
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.358-1067G>A
c.358-1067G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253231
chr1:39253271 G
G
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.358-1027G>A
c.358-1027G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253271
chr1:39253376 C
C
 T
T
 2 a0003c0002t0001g0114
a0003c0002t0001g0152
a0003c0002t0001g0114
a0003c0002t0001g0152
 2 NA18974.hp1
NA18995.hp2
NA18974.hp1
NA18995.hp2
 intron_variant MODIFIER c.358-922C>T
c.358-922C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253376
chr1:39253400 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.358-898C>T
c.358-898C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253400
chr1:39253509 A
A
 AT
AT
 114 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(111): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0150
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0242
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0003g0213
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0027c0063t0002g0229
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0039c0042t0001g0021
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 114 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(111): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.358-767dupT
c.358-767dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 INFO_REALIGN_3_PRIME chr1 39253509
chr1:39253509 A
A
 ATT
ATT
 12 a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0038
others(9): Show 
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0038
a0001c0001t0001g0053
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0006g0066
a0002c0015t0002g0112
a0002c0039t0001g0073
a0004c0011t0003g0167
a0011c0013t0001g0076
a0041c0033t0001g0055
 12 HG00741.hp2
HG01106.hp2
HG01261.hp2
others(9): Show 
HG00741.hp2
HG01106.hp2
HG01261.hp2
HG02055.hp2
HG02135.hp1
HG03098.hp1
NA18953.hp1
NA18987.hp1
NA18988.hp1
NA19010.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.358-768_358-767dup
others(2): Show 
c.358-768_358-767dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 INFO_REALIGN_3_PRIME chr1 39253509
chr1:39253509 AT
AT
 A
A
 24 a0002c0004t0001g0193
a0003c0002t0001g0108
a0003c0002t0001g0109
others(21): Show 
a0002c0004t0001g0193
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0111
a0003c0002t0001g0154
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0040c0051t0001g0205
 24 HG00642.hp1
HG00735.hp2
HG01884.hp2
others(21): Show 
HG00642.hp1
HG00735.hp2
HG01884.hp2
HG02602.hp1
HG02615.hp1
HG02717.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03579.hp2
HG03927.hp2
HG06807.hp2
NA18906.hp1
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.358-767delT
c.358-767delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 INFO_REALIGN_3_PRIME chr1 39253509
chr1:39253519 T
T
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.358-779T>A
c.358-779T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253519
chr1:39253674 C
C
 T
T
 95 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(92): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 95 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(92): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.358-624C>T
c.358-624C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253674
chr1:39253847 T
T
 C
C
 48 a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
others(45): Show 
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.358-451T>C
c.358-451T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39253847
chr1:39254076 C
C
 T
T
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.358-222C>T
c.358-222C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39254076
chr1:39254127 G
G
 C
C
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.358-171G>C
c.358-171G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39254127
chr1:39254140 G
G
 A
A
 48 a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
others(45): Show 
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.358-158G>A
c.358-158G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 4/100 chr1 39254140
chr1:39254508 C
C
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.435+133C>A
c.435+133C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39254508
chr1:39254559 C
C
 G
G
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.435+184C>G
c.435+184C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39254559
chr1:39255143 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.435+768G>A
c.435+768G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39255143
chr1:39255299 G
G
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.435+924G>A
c.435+924G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39255299
chr1:39255566 C
C
 G
G
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.435+1191C>G
c.435+1191C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39255566
chr1:39255778 T
T
 G
G
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.435+1403T>G
c.435+1403T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39255778
chr1:39256049 G
G
 A
A
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.435+1674G>A
c.435+1674G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39256049
chr1:39256482 T
T
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.436-1454T>A
c.436-1454T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39256482
chr1:39256484 A
A
 G
G
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.436-1452A>G
c.436-1452A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39256484
chr1:39256542 A
A
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.436-1394A>G
c.436-1394A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39256542
chr1:39256638 G
G
 C
C
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.436-1298G>C
c.436-1298G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39256638
chr1:39257201 T
T
 C
C
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.436-735T>C
c.436-735T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39257201
chr1:39257311 C
C
 CT
CT
 199 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(196): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 199 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(196): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.436-616dupT
c.436-616dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 INFO_REALIGN_3_PRIME chr1 39257311
chr1:39257334 A
A
 T
T
 1 a0004c0038t0001g0084
a0004c0038t0001g0084
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.436-602A>T
c.436-602A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39257334
chr1:39257403 C
C
 T
T
 122 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(119): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0029c0061t0003g0232
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 122 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(119): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.436-533C>T
c.436-533C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39257403
chr1:39257492 C
C
 T
T
 2 a0006c0005t0001g0236
a0028c0050t0008g0233
a0006c0005t0001g0236
a0028c0050t0008g0233
 2 HG02965.hp1
HG04204.hp1
HG02965.hp1
HG04204.hp1
 intron_variant MODIFIER c.436-444C>T
c.436-444C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39257492
chr1:39257504 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.436-432G>A
c.436-432G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 5/100 chr1 39257504
chr1:39258123 T
T
 C
C
 1 a0023c0074t0001g0206
a0023c0074t0001g0206
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.528+95T>C
c.528+95T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39258123
chr1:39258218 C
C
 T
T
 1 a0016c0026t0001g0173
a0016c0026t0001g0173
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.528+190C>T
c.528+190C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39258218
chr1:39258247 T
T
 C
C
 2 a0001c0001t0001g0030
a0001c0001t0001g0099
a0001c0001t0001g0030
a0001c0001t0001g0099
 2 HG00735.hp1
HG03491.hp1
HG00735.hp1
HG03491.hp1
 intron_variant MODIFIER c.528+219T>C
c.528+219T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39258247
chr1:39258561 A
A
 G
G
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.528+533A>G
c.528+533A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39258561
chr1:39258753 C
C
 T
T
 1 a0002c0004t0001g0012
a0002c0004t0001g0012
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.528+725C>T
c.528+725C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39258753
chr1:39258763 G
G
 A
A
 5 a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
others(2): Show 
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0030c0060t0001g0241
 5 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(2): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.528+735G>A
c.528+735G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39258763
chr1:39259132 T
T
 C
C
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.528+1104T>C
c.528+1104T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39259132
chr1:39259221 G
G
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.528+1193G>A
c.528+1193G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39259221
chr1:39259303 T
T
 C
C
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.528+1275T>C
c.528+1275T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39259303
chr1:39259652 C
C
 T
T
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.528+1624C>T
c.528+1624C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39259652
chr1:39259653 G
G
 A
A
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.528+1625G>A
c.528+1625G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39259653
chr1:39259700 G
G
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.528+1672G>A
c.528+1672G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39259700
chr1:39260367 C
C
 CT
CT
 5 a0001c0001t0001g0104
a0010c0016t0004g0140
a0014c0021t0001g0226
others(2): Show 
a0001c0001t0001g0104
a0010c0016t0004g0140
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
 5 HG00558.hp2
HG02896.hp1
HG02897.hp1
others(2): Show 
HG00558.hp2
HG02896.hp1
HG02897.hp1
NA18522.hp2
NA18943.hp1
 intron_variant MODIFIER c.528+2354dupT
c.528+2354dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39260367
chr1:39260510 G
G
 A
A
 121 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(118): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 121 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(118): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+2482G>A
c.528+2482G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39260510
chr1:39260653 C
C
 T
T
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.528+2625C>T
c.528+2625C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39260653
chr1:39260759 A
A
 G
G
 1 a0002c0024t0001g0203
a0002c0024t0001g0203
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.528+2731A>G
c.528+2731A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39260759
chr1:39261018 T
T
 C
C
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.528+2990T>C
c.528+2990T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261018
chr1:39261023 T
T
 C
C
 1 a0002c0015t0002g0172
a0002c0015t0002g0172
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.528+2995T>C
c.528+2995T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261023
chr1:39261049 A
A
 G
G
 173 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(170): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 173 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(170): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+3021A>G
c.528+3021A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261049
chr1:39261476 C
C
 G
G
 1 a0003c0002t0001g0149
a0003c0002t0001g0149
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.528+3448C>G
c.528+3448C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261476
chr1:39261477 A
A
 T
T
 1 a0003c0002t0001g0149
a0003c0002t0001g0149
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.528+3449A>T
c.528+3449A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261477
chr1:39261491 A
A
 T
T
 1 a0003c0002t0001g0149
a0003c0002t0001g0149
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.528+3463A>T
c.528+3463A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261491
chr1:39261614 C
C
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.528+3586C>G
c.528+3586C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261614
chr1:39261644 T
T
 C
C
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.528+3616T>C
c.528+3616T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261644
chr1:39261739 C
C
 T
T
 2 a0001c0001t0001g0053
a0004c0006t0001g0074
a0001c0001t0001g0053
a0004c0006t0001g0074
 2 HG00140.hp1
HG00741.hp2
HG00140.hp1
HG00741.hp2
 intron_variant MODIFIER c.528+3711C>T
c.528+3711C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261739
chr1:39261811 G
G
 A
A
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.528+3783G>A
c.528+3783G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261811
chr1:39261921 A
A
 C
C
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.528+3893A>C
c.528+3893A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39261921
chr1:39262119 C
C
 T
T
 1 a0004c0011t0003g0167
a0004c0011t0003g0167
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.528+4091C>T
c.528+4091C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262119
chr1:39262160 G
G
 A
A
 3 a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
 3 HG02976.hp2
HG03516.hp2
NA20300.hp2
HG02976.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.528+4132G>A
c.528+4132G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262160
chr1:39262254 T
T
 C
C
 2 a0019c0028t0001g0130
a0019c0028t0001g0132
a0019c0028t0001g0130
a0019c0028t0001g0132
 2 HG00639.hp1
HG02683.hp1
HG00639.hp1
HG02683.hp1
 intron_variant MODIFIER c.528+4226T>C
c.528+4226T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262254
chr1:39262271 G
G
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.528+4243G>A
c.528+4243G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262271
chr1:39262326 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.528+4298G>A
c.528+4298G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262326
chr1:39262397 C
C
 CA
CA
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0062t0001g0006
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0004c0006t0001g0049
a0004c0038t0001g0084
a0005c0008t0001g0210
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0003g0213
a0008c0010t0003g0219
a0011c0013t0001g0076
a0011c0013t0001g0079
a0015c0022t0001g0005
a0015c0022t0001g0007
a0028c0050t0008g0233
a0029c0061t0003g0232
a0033c0053t0001g0200
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 92 HG00438.hp1
HG00544.hp2
HG00558.hp1
others(89): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01884.hp1
HG01952.hp2
HG02004.hp2
HG02071.hp2
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp1
HG04204.hp1
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
 intron_variant MODIFIER c.528+4391dupA
c.528+4391dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39262397
chr1:39262397 C
C
 CAA
CAA
 61 a0001c0001t0001g0018
a0001c0001t0001g0039
a0001c0001t0001g0048
others(58): Show 
a0001c0001t0001g0018
a0001c0001t0001g0039
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0006c0005t0001g0238
a0011c0013t0001g0078
a0013c0023t0001g0003
a0013c0023t0001g0004
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0038c0054t0002g0178
a0044c0032t0001g0102
a0052c0046t0001g0068
 61 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(58): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp2
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03209.hp1
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03704.hp2
NA18943.hp1
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19030.hp1
NA19080.hp1
NA19083.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+4390_528+4391d
others(4): Show 
c.528+4390_528+4391dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39262397
chr1:39262397 C
C
 CAAA
CAAA
 50 a0001c0001t0001g0080
a0001c0001t0001g0103
a0002c0003t0002g0127
others(47): Show 
a0001c0001t0001g0080
a0001c0001t0001g0103
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0019t0001g0050
a0004c0019t0001g0052
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(47): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp1
HG04115.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp1
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.528+4389_528+4391d
others(5): Show 
c.528+4389_528+4391dupAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39262397
chr1:39262397 C
C
 CAAAA
CAAAA
 6 a0003c0002t0001g0109
a0003c0002t0001g0126
a0003c0002t0001g0147
others(3): Show 
a0003c0002t0001g0109
a0003c0002t0001g0126
a0003c0002t0001g0147
a0003c0002t0001g0152
a0003c0002t0001g0160
a0003c0002t0001g0161
 6 HG02074.hp2
HG02738.hp1
HG03927.hp2
others(3): Show 
HG02074.hp2
HG02738.hp1
HG03927.hp2
NA18954.hp2
NA18974.hp1
NA19000.hp2
 intron_variant MODIFIER c.528+4388_528+4391d
others(6): Show 
c.528+4388_528+4391dupAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39262397
chr1:39262397 CA
CA
 C
C
 9 a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
others(6): Show 
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0014c0021t0001g0226
a0014c0021t0001g0227
 9 HG01069.hp2
HG02109.hp2
HG02280.hp1
others(6): Show 
HG01069.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp1
HG03130.hp2
HG03579.hp1
HG06807.hp1
 intron_variant MODIFIER c.528+4391delA
c.528+4391delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39262397
chr1:39262624 A
A
 G
G
 3 a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
 3 HG02040.hp1
NA18943.hp1
NA19000.hp1
HG02040.hp1
NA18943.hp1
NA19000.hp1
 intron_variant MODIFIER c.528+4596A>G
c.528+4596A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262624
chr1:39262915 A
A
 G
G
 17 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(14): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0006c0005t0001g0234
a0028c0050t0008g0233
a0033c0053t0001g0200
a0042c0052t0001g0201
 17 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(14): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.528+4887A>G
c.528+4887A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262915
chr1:39262975 C
C
 G
G
 49 a0002c0003t0002g0127
a0003c0002t0001g0110
a0003c0002t0001g0111
others(46): Show 
a0002c0003t0002g0127
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 49 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(46): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.528+4947C>G
c.528+4947C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39262975
chr1:39263120 C
C
 T
T
 1 a0002c0039t0001g0073
a0002c0039t0001g0073
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.528+5092C>T
c.528+5092C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39263120
chr1:39263292 A
A
 G
G
 177 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(174): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 177 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(174): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+5264A>G
c.528+5264A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39263292
chr1:39263572 T
T
 C
C
 7 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(4): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0020c0075t0001g0211
a0022c0072t0001g0209
 7 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(4): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.528+5544T>C
c.528+5544T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39263572
chr1:39263764 CTTTTTTC
others(6): Show 
CTTTTTTCTTTTTT
 C
C
 3 a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
 3 HG02572.hp2
NA18522.hp2
NA19030.hp2
HG02572.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.528+5743_528+5755d
others(15): Show 
c.528+5743_528+5755delCTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39263764
chr1:39263771 C
C
 CT
CT
 39 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(36): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0148
a0003c0002t0001g0156
a0004c0006t0001g0074
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0218
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0013c0023t0001g0003
a0013c0023t0001g0004
a0020c0075t0001g0211
a0022c0072t0001g0209
a0024c0076t0003g0222
a0026c0049t0001g0002
a0033c0053t0001g0200
a0035c0055t0002g0179
a0036c0048t0001g0008
a0040c0051t0001g0205
a0042c0052t0001g0201
a0044c0032t0001g0102
 39 HG00140.hp1
HG00639.hp2
HG00642.hp1
others(36): Show 
HG00140.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01884.hp1
HG02015.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA18939.hp2
NA18975.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.528+5763dupT
c.528+5763dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39263771
chr1:39263771 C
C
 CTT
CTT
 84 a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
others(81): Show 
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0078
a0014c0021t0001g0226
a0014c0021t0001g0227
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 84 HG00140.hp2
HG00280.hp2
HG00438.hp1
others(81): Show 
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+5762_528+5763d
others(4): Show 
c.528+5762_528+5763dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39263771
chr1:39263771 C
C
 CTTT
CTTT
 22 a0001c0001t0001g0017
a0001c0001t0001g0092
a0001c0001t0001g0103
others(19): Show 
a0001c0001t0001g0017
a0001c0001t0001g0092
a0001c0001t0001g0103
a0001c0001t0002g0016
a0001c0018t0002g0036
a0001c0036t0002g0035
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0011c0013t0001g0076
a0011c0013t0001g0079
a0052c0046t0001g0068
 22 HG00544.hp2
HG01069.hp1
HG01106.hp1
others(19): Show 
HG00544.hp2
HG01069.hp1
HG01106.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02145.hp1
HG02280.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02976.hp2
HG03098.hp1
HG03239.hp2
HG03486.hp1
HG03516.hp2
HG04204.hp1
HG06807.hp1
NA18995.hp1
NA19000.hp1
NA19083.hp1
NA20300.hp2
 intron_variant MODIFIER c.528+5761_528+5763d
others(5): Show 
c.528+5761_528+5763dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39263771
chr1:39263869 G
G
 A
A
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.528+5841G>A
c.528+5841G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39263869
chr1:39263886 G
G
 A
A
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.528+5858G>A
c.528+5858G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39263886
chr1:39263935 G
G
 T
T
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+5907G>T
c.528+5907G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39263935
chr1:39263945 T
T
 G
G
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.528+5917T>G
c.528+5917T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39263945
chr1:39264062 T
T
 C
C
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.528+6034T>C
c.528+6034T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264062
chr1:39264063 G
G
 T
T
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.528+6035G>T
c.528+6035G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264063
chr1:39264064 T
T
 C
C
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.528+6036T>C
c.528+6036T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264064
chr1:39264146 C
C
 T
T
 2 a0001c0040t0001g0014
a0004c0006t0001g0049
a0001c0040t0001g0014
a0004c0006t0001g0049
 2 HG02486.hp2
NA18522.hp1
HG02486.hp2
NA18522.hp1
 intron_variant MODIFIER c.528+6118C>T
c.528+6118C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264146
chr1:39264251 C
C
 G
G
 1 a0003c0002t0001g0156
a0003c0002t0001g0156
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.528+6223C>G
c.528+6223C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264251
chr1:39264336 T
T
 G
G
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.528+6308T>G
c.528+6308T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264336
chr1:39264500 A
A
 G
G
 119 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(116): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 119 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(116): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+6472A>G
c.528+6472A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264500
chr1:39264625 G
G
 A
A
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.528+6597G>A
c.528+6597G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264625
chr1:39264662 CT
CT
 C
C
 76 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0062t0001g0006
others(73): Show 
a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0025t0001g0001
a0002c0025t0001g0191
a0004c0011t0003g0167
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0217
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0242
a0006c0005t0001g0243
a0007c0007t0001g0082
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0011c0013t0001g0076
a0011c0013t0001g0079
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0026c0049t0001g0002
a0027c0063t0002g0229
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 76 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(73): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp2
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19084.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.528+6656delT
c.528+6656delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39264662
chr1:39264662 CTT
CTT
 C
C
 144 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(141): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0127
a0002c0004t0001g0202
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0081
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0078
a0013c0023t0001g0003
a0014c0021t0001g0226
a0014c0021t0001g0227
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0030c0060t0001g0241
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 144 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(141): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03209.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+6655_528+6656d
others(4): Show 
c.528+6655_528+6656delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39264662
chr1:39264714 C
C
 T
T
 3 a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 3 HG02132.hp2
NA18987.hp1
NA19011.hp2
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.528+6686C>T
c.528+6686C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264714
chr1:39264876 T
T
 G
G
 1 a0045c0070t0001g0144
a0045c0070t0001g0144
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.528+6848T>G
c.528+6848T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39264876
chr1:39265057 C
C
 G
G
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.528+7029C>G
c.528+7029C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265057
chr1:39265252 T
T
 C
C
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.528+7224T>C
c.528+7224T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265252
chr1:39265417 A
A
 G
G
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.528+7389A>G
c.528+7389A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265417
chr1:39265492 G
G
 A
A
 197 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(194): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 197 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(194): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+7464G>A
c.528+7464G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265492
chr1:39265542 C
C
 A
A
 4 a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
others(1): Show 
a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
 4 HG02074.hp1
NA18942.hp2
NA18969.hp2
others(1): Show 
HG02074.hp1
NA18942.hp2
NA18969.hp2
NA18973.hp1
 intron_variant MODIFIER c.528+7514C>A
c.528+7514C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265542
chr1:39265721 A
A
 C
C
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.528+7693A>C
c.528+7693A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265721
chr1:39265878 T
T
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.528+7850T>C
c.528+7850T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265878
chr1:39265911 C
C
 T
T
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.528+7883C>T
c.528+7883C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39265911
chr1:39266388 C
C
 G
G
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.528+8360C>G
c.528+8360C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39266388
chr1:39266594 C
C
 CT
CT
 102 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(99): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0092
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0012t0001g0058
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0228
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0203
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0007c0007t0001g0081
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0030c0060t0001g0241
a0032c0043t0001g0064
a0033c0053t0001g0200
a0037c0058t0001g0245
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
 102 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(99): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00642.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18906.hp2
NA18939.hp1
NA18953.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18999.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+8591dupT
c.528+8591dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39266594
chr1:39266594 C
C
 CTT
CTT
 23 a0001c0001t0001g0091
a0001c0001t0001g0094
a0001c0001t0001g0104
others(20): Show 
a0001c0001t0001g0091
a0001c0001t0001g0094
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0036t0002g0035
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0164
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0244
a0007c0007t0001g0082
a0014c0021t0001g0226
a0014c0021t0001g0227
a0026c0049t0001g0002
a0053c0077t0001g0020
 23 HG02040.hp1
HG02055.hp1
HG02145.hp2
others(20): Show 
HG02040.hp1
HG02055.hp1
HG02145.hp2
HG02647.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03471.hp2
HG04115.hp1
HG04204.hp1
NA18943.hp1
NA18980.hp1
NA18987.hp2
NA18995.hp1
NA19002.hp1
NA19080.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp2
 intron_variant MODIFIER c.528+8590_528+8591d
others(4): Show 
c.528+8590_528+8591dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39266594
chr1:39266594 C
C
 CTTT
CTTT
 8 a0001c0001t0001g0019
a0001c0001t0002g0016
a0002c0004t0001g0010
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0002g0016
a0002c0004t0001g0010
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0036c0048t0001g0008
 8 HG00438.hp1
HG02109.hp1
HG02486.hp1
others(5): Show 
HG00438.hp1
HG02109.hp1
HG02486.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA19083.hp1
 intron_variant MODIFIER c.528+8589_528+8591d
others(5): Show 
c.528+8589_528+8591dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39266594
chr1:39266594 C
C
 CTTTT
CTTTT
 7 a0001c0001t0001g0103
a0001c0062t0001g0006
a0004c0011t0003g0167
others(4): Show 
a0001c0001t0001g0103
a0001c0062t0001g0006
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
NA19000.hp1
NA19030.hp2
 intron_variant MODIFIER c.528+8588_528+8591d
others(6): Show 
c.528+8588_528+8591dupTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39266594
chr1:39266838 T
T
 C
C
 2 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0091
a0001c0001t0001g0092
 2 HG02055.hp1
HG02145.hp1
HG02055.hp1
HG02145.hp1
 intron_variant MODIFIER c.528+8810T>C
c.528+8810T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39266838
chr1:39267007 T
T
 C
C
 1 a0002c0004t0001g0199
a0002c0004t0001g0199
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.528+8979T>C
c.528+8979T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267007
chr1:39267104 G
G
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.528+9076G>C
c.528+9076G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267104
chr1:39267359 T
T
 C
C
 1 a0003c0002t0001g0110
a0003c0002t0001g0110
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.528+9331T>C
c.528+9331T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267359
chr1:39267518 G
G
 C
C
 1 a0002c0004t0001g0196
a0002c0004t0001g0196
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.528+9490G>C
c.528+9490G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267518
chr1:39267692 A
A
 G
G
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.528+9664A>G
c.528+9664A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267692
chr1:39267827 T
T
 G
G
 93 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 93 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+9799T>G
c.528+9799T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267827
chr1:39267948 A
A
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.528+9920A>G
c.528+9920A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267948
chr1:39267949 A
A
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.528+9921A>C
c.528+9921A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39267949
chr1:39268061 G
G
 A
A
 108 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(105): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 108 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(105): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.528+10033G>A
c.528+10033G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39268061
chr1:39268161 G
G
 A
A
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.528+10133G>A
c.528+10133G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39268161
chr1:39268926 G
G
 C
C
 13 a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
others(10): Show 
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 13 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(10): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.528+10898G>C
c.528+10898G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39268926
chr1:39268990 G
G
 A
A
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.528+10962G>A
c.528+10962G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39268990
chr1:39269002 G
G
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.528+10974G>A
c.528+10974G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39269002
chr1:39269062 T
T
 G
G
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.528+11034T>G
c.528+11034T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39269062
chr1:39269068 A
A
 G
G
 1 a0004c0006t0001g0069
a0004c0006t0001g0069
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.528+11040A>G
c.528+11040A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39269068
chr1:39269334 CAAG
CAAG
 C
C
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.528+11309_528+1131
others(7): Show 
c.528+11309_528+11311delGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39269334
chr1:39269471 G
G
 A
A
 1 a0007c0007t0001g0056
a0007c0007t0001g0056
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.528+11443G>A
c.528+11443G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39269471
chr1:39269500 C
C
 T
T
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.528+11472C>T
c.528+11472C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39269500
chr1:39269996 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.528+11968A>G
c.528+11968A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39269996
chr1:39270163 C
C
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.529-12045C>T
c.529-12045C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39270163
chr1:39270285 T
T
 C
C
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.529-11923T>C
c.529-11923T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39270285
chr1:39270472 G
G
 A
A
 1 a0023c0074t0001g0206
a0023c0074t0001g0206
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.529-11736G>A
c.529-11736G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39270472
chr1:39270506 G
G
 A
A
 3 a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
a0001c0062t0001g0006
a0015c0022t0001g0005
a0015c0022t0001g0007
 3 HG02572.hp2
NA18522.hp2
NA19030.hp2
HG02572.hp2
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.529-11702G>A
c.529-11702G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39270506
chr1:39270594 G
G
 A
A
 2 a0003c0002t0001g0126
a0003c0066t0001g0117
a0003c0002t0001g0126
a0003c0066t0001g0117
 2 HG02074.hp2
HG02129.hp1
HG02074.hp2
HG02129.hp1
 intron_variant MODIFIER c.529-11614G>A
c.529-11614G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39270594
chr1:39270662 C
C
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.529-11546C>G
c.529-11546C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39270662
chr1:39270791 G
G
 GATAT
GATAT
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.529-11416_529-1141
others(8): Show 
c.529-11416_529-11413dupATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39270791
chr1:39270926 C
C
 T
T
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.529-11282C>T
c.529-11282C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39270926
chr1:39271185 G
G
 C
C
 4 a0002c0004t0001g0199
a0002c0004t0001g0204
a0033c0053t0001g0200
others(1): Show 
a0002c0004t0001g0199
a0002c0004t0001g0204
a0033c0053t0001g0200
a0042c0052t0001g0201
 4 HG02257.hp1
HG02717.hp1
HG02818.hp1
others(1): Show 
HG02257.hp1
HG02717.hp1
HG02818.hp1
HG03540.hp1
 intron_variant MODIFIER c.529-11023G>C
c.529-11023G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39271185
chr1:39271299 T
T
 C
C
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.529-10909T>C
c.529-10909T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39271299
chr1:39271369 C
C
 T
T
 1 a0041c0033t0001g0055
a0041c0033t0001g0055
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.529-10839C>T
c.529-10839C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39271369
chr1:39271525 G
G
 A
A
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.529-10683G>A
c.529-10683G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39271525
chr1:39271796 A
A
 G
G
 2 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0001t0001g0061
a0001c0001t0001g0098
 2 HG03041.hp2
HG03130.hp1
HG03041.hp2
HG03130.hp1
 intron_variant MODIFIER c.529-10412A>G
c.529-10412A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39271796
chr1:39272153 G
G
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.529-10055G>A
c.529-10055G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39272153
chr1:39272426 G
G
 A
A
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.529-9782G>A
c.529-9782G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39272426
chr1:39272664 A
A
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.529-9544A>T
c.529-9544A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39272664
chr1:39273131 A
A
 AT
AT
 17 a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
others(14): Show 
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0218
a0011c0013t0001g0076
a0011c0013t0001g0079
a0020c0075t0001g0211
a0022c0072t0001g0209
a0051c0045t0012g0022
 17 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(14): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03471.hp1
HG03486.hp1
HG03579.hp2
NA18906.hp1
NA18974.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.529-9054dupT
c.529-9054dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39273131
chr1:39273131 AT
AT
 A
A
 66 a0001c0001t0001g0024
a0001c0001t0001g0071
a0001c0001t0001g0097
others(63): Show 
a0001c0001t0001g0024
a0001c0001t0001g0071
a0001c0001t0001g0097
a0001c0001t0001g0107
a0001c0001t0002g0016
a0002c0003t0002g0127
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0035t0001g0063
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0014c0021t0001g0227
a0015c0022t0001g0005
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0031c0059t0002g0177
a0036c0048t0001g0008
a0040c0051t0001g0205
a0043c0057t0001g0168
a0045c0070t0001g0144
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 66 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(63): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01167.hp1
HG01243.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02523.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02897.hp1
HG03486.hp2
HG03490.hp1
HG03540.hp2
HG03927.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18969.hp1
NA18969.hp2
NA18973.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18990.hp2
NA18999.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
 intron_variant MODIFIER c.529-9054delT
c.529-9054delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39273131
chr1:39273131 ATT
ATT
 A
A
 10 a0002c0004t0001g0193
a0003c0002t0001g0114
a0003c0002t0001g0119
others(7): Show 
a0002c0004t0001g0193
a0003c0002t0001g0114
a0003c0002t0001g0119
a0003c0002t0001g0128
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0152
a0003c0002t0001g0156
a0014c0021t0001g0226
a0047c0068t0001g0129
 10 HG02015.hp1
HG02896.hp1
HG02896.hp2
others(7): Show 
HG02015.hp1
HG02896.hp1
HG02896.hp2
NA18939.hp2
NA18942.hp1
NA18966.hp2
NA18971.hp2
NA18974.hp1
NA18995.hp2
NA19091.hp1
 intron_variant MODIFIER c.529-9055_529-9054d
others(4): Show 
c.529-9055_529-9054delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39273131
chr1:39273131 ATTTTTTT
ATTTTTTT
 A
A
 10 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
others(7): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 10 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(7): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-9060_529-9054d
others(9): Show 
c.529-9060_529-9054delTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39273131
chr1:39273199 C
C
 T
T
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.529-9009C>T
c.529-9009C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39273199
chr1:39273386 A
A
 G
G
 10 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
others(7): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 10 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(7): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-8822A>G
c.529-8822A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39273386
chr1:39273400 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.529-8808G>A
c.529-8808G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39273400
chr1:39273825 C
C
 T
T
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.529-8383C>T
c.529-8383C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39273825
chr1:39273991 C
C
 T
T
 1 a0003c0002t0001g0108
a0003c0002t0001g0108
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.529-8217C>T
c.529-8217C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39273991
chr1:39274585 G
G
 A
A
 10 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
others(7): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 10 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(7): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-7623G>A
c.529-7623G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39274585
chr1:39274613 C
C
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.529-7595C>G
c.529-7595C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39274613
chr1:39274866 T
T
 G
G
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.529-7342T>G
c.529-7342T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39274866
chr1:39274909 T
T
 C
C
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.529-7299T>C
c.529-7299T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39274909
chr1:39275000 AG
AG
 A
A
 7 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(4): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0020c0075t0001g0211
a0022c0072t0001g0209
 7 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(4): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.529-7206delG
c.529-7206delG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39275000
chr1:39275079 C
C
 CT
CT
 55 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(52): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0051c0045t0012g0022
 55 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(52): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.529-7112dupT
c.529-7112dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39275079
chr1:39275149 G
G
 A
A
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.529-7059G>A
c.529-7059G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39275149
chr1:39275272 C
C
 T
T
 8 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(5): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 8 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(5): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.529-6936C>T
c.529-6936C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39275272
chr1:39275422 T
T
 C
C
 1 a0020c0075t0001g0211
a0020c0075t0001g0211
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.529-6786T>C
c.529-6786T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39275422
chr1:39275595 G
G
 A
A
 10 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
others(7): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 10 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(7): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-6613G>A
c.529-6613G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39275595
chr1:39275848 A
A
 T
T
 93 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 93 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-6360A>T
c.529-6360A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39275848
chr1:39275912 G
G
 GCTT
GCTT
 178 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(175): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0170
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0028c0050t0008g0233
a0029c0061t0003g0232
a0032c0043t0001g0064
a0033c0053t0001g0200
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 178 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(175): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-6283_529-6281d
others(5): Show 
c.529-6283_529-6281dupCTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39275912
chr1:39275925 C
C
 CT
CT
 7 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(4): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0020c0075t0001g0211
a0022c0072t0001g0209
 7 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(4): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.529-6270dupT
c.529-6270dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39275925
chr1:39275925 C
C
 CTTCT
CTTCT
 33 a0001c0001t0001g0080
a0001c0001t0001g0098
a0002c0003t0001g0186
others(30): Show 
a0001c0001t0001g0080
a0001c0001t0001g0098
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0171
a0009c0047t0001g0189
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0043c0057t0001g0168
 33 HG00438.hp2
HG00597.hp1
HG01069.hp2
others(30): Show 
HG00438.hp2
HG00597.hp1
HG01069.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03041.hp2
HG03491.hp2
HG03927.hp1
HG06807.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.529-6281_529-6280i
others(6): Show 
c.529-6281_529-6280insCTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39275925
chr1:39275926 T
T
 TTC
TTC
 11 a0002c0004t0011g0194
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0002c0004t0011g0194
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-6281_529-6280i
others(4): Show 
c.529-6281_529-6280insCT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39275926
chr1:39276010 C
C
 T
T
 7 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(4): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0020c0075t0001g0211
a0022c0072t0001g0209
 7 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(4): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.529-6198C>T
c.529-6198C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39276010
chr1:39276302 A
A
 G
G
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.529-5906A>G
c.529-5906A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39276302
chr1:39276471 G
G
 C
C
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.529-5737G>C
c.529-5737G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39276471
chr1:39276762 T
T
 C
C
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.529-5446T>C
c.529-5446T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39276762
chr1:39276960 T
T
 C
C
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.529-5248T>C
c.529-5248T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39276960
chr1:39277153 G
G
 GA
GA
 9 a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
others(6): Show 
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0147
a0003c0002t0001g0159
a0003c0002t0001g0160
 9 HG00642.hp2
HG02145.hp2
HG02602.hp1
others(6): Show 
HG00642.hp2
HG02145.hp2
HG02602.hp1
HG02738.hp1
HG03927.hp2
NA18960.hp2
NA18980.hp2
NA19000.hp2
NA19011.hp1
 intron_variant MODIFIER c.529-5041dupA
c.529-5041dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39277153
chr1:39277153 GA
GA
 G
G
 61 a0001c0001t0001g0018
a0001c0062t0001g0006
a0002c0003t0001g0186
others(58): Show 
a0001c0001t0001g0018
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0020c0075t0001g0211
a0022c0072t0001g0209
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0043c0057t0001g0168
 61 HG00438.hp2
HG00597.hp1
HG00642.hp1
others(58): Show 
HG00438.hp2
HG00597.hp1
HG00642.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA18953.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.529-5041delA
c.529-5041delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39277153
chr1:39277153 GAA
GAA
 G
G
 90 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 90 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-5042_529-5041d
others(4): Show 
c.529-5042_529-5041delAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39277153
chr1:39277184 T
T
 C
C
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.529-5024T>C
c.529-5024T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39277184
chr1:39277192 GA
GA
 G
G
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.529-5015delA
c.529-5015delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39277192
chr1:39277197 T
T
 G
G
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-5011T>G
c.529-5011T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39277197
chr1:39277207 A
A
 C
C
 1 a0005c0008t0001g0210
a0005c0008t0001g0210
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.529-5001A>C
c.529-5001A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39277207
chr1:39277693 G
G
 A
A
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.529-4515G>A
c.529-4515G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39277693
chr1:39278040 A
A
 T
T
 171 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(168): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 171 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-4168A>T
c.529-4168A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278040
chr1:39278228 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.529-3980C>T
c.529-3980C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278228
chr1:39278234 T
T
 C
C
 1 a0032c0043t0001g0064
a0032c0043t0001g0064
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.529-3974T>C
c.529-3974T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278234
chr1:39278257 G
G
 A
A
 10 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
others(7): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 10 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(7): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-3951G>A
c.529-3951G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278257
chr1:39278499 T
T
 G
G
 2 a0002c0015t0002g0112
a0002c0015t0002g0175
a0002c0015t0002g0112
a0002c0015t0002g0175
 2 HG02132.hp2
NA18987.hp1
HG02132.hp2
NA18987.hp1
 intron_variant MODIFIER c.529-3709T>G
c.529-3709T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278499
chr1:39278697 A
A
 G
G
 2 a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0103
a0001c0001t0001g0104
 2 NA18943.hp1
NA19000.hp1
NA18943.hp1
NA19000.hp1
 intron_variant MODIFIER c.529-3511A>G
c.529-3511A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278697
chr1:39278935 T
T
 G
G
 171 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(168): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 171 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(168): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-3273T>G
c.529-3273T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278935
chr1:39278946 A
A
 G
G
 93 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 93 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-3262A>G
c.529-3262A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39278946
chr1:39279190 A
A
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.529-3018A>G
c.529-3018A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39279190
chr1:39279838 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.529-2370G>A
c.529-2370G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39279838
chr1:39279877 C
C
 T
T
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.529-2331C>T
c.529-2331C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39279877
chr1:39279936 G
G
 C
C
 93 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 93 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(90): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.529-2272G>C
c.529-2272G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39279936
chr1:39280175 G
G
 A
A
 1 a0003c0002t0001g0135
a0003c0002t0001g0135
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.529-2033G>A
c.529-2033G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39280175
chr1:39280314 A
A
 G
G
 1 a0002c0003t0001g0187
a0002c0003t0001g0187
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.529-1894A>G
c.529-1894A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39280314
chr1:39280393 C
C
 T
T
 3 a0003c0002t0001g0118
a0003c0002t0001g0126
a0003c0066t0001g0117
a0003c0002t0001g0118
a0003c0002t0001g0126
a0003c0066t0001g0117
 3 HG02074.hp2
HG02129.hp1
NA19083.hp2
HG02074.hp2
HG02129.hp1
NA19083.hp2
 intron_variant MODIFIER c.529-1815C>T
c.529-1815C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39280393
chr1:39280412 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.529-1796G>A
c.529-1796G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39280412
chr1:39280612 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.529-1596C>T
c.529-1596C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39280612
chr1:39280945 G
G
 A
A
 4 a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
others(1): Show 
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 4 HG00597.hp1
HG02132.hp2
NA18987.hp1
others(1): Show 
HG00597.hp1
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.529-1263G>A
c.529-1263G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39280945
chr1:39281458 T
T
 C
C
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.529-750T>C
c.529-750T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39281458
chr1:39281485 T
T
 TAAAACTT
others(305): Show 
TAAAACTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCC
AGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCC
GCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG
ACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAG
AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA
TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC
ACCGCGCCCGGCC
 9 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
others(6): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0030c0060t0001g0241
 9 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(6): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-712_529-711ins
others(312): Show 
c.529-712_529-711insTTTTTTTTTTTTTGAGACGGAGTCTCGCTC
TGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG
CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG
TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT
TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC
TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG
CGTGAGCCACCGCGCCCGGCCAAAACTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39281485
chr1:39281485 T
T
 TAAAACTT
others(306): Show 
TAAAACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC
CAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC
CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG
GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTA
GAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTC
ATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC
CACCGCGCCCGGCC
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.529-712_529-711ins
others(313): Show 
c.529-712_529-711insTTTTTTTTTTTTTTGAGACGGAGTCTCGCT
CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT
GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA
GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT
TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC
CTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG
GCGTGAGCCACCGCGCCCGGCCAAAACTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 INFO_REALIGN_3_PRIME chr1 39281485
chr1:39281691 A
A
 G
G
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.529-517A>G
c.529-517A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39281691
chr1:39281701 A
A
 G
G
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.529-507A>G
c.529-507A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39281701
chr1:39281930 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.529-278G>A
c.529-278G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39281930
chr1:39281967 A
A
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.529-241A>G
c.529-241A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 6/100 chr1 39281967
chr1:39282456 T
T
 C
C
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.695+82T>C
c.695+82T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 7/100 chr1 39282456
chr1:39282562 C
C
 T
T
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.695+188C>T
c.695+188C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 7/100 chr1 39282562
chr1:39282599 G
G
 A
A
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.695+225G>A
c.695+225G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 7/100 chr1 39282599
chr1:39282867 C
C
 A
A
 116 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(113): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0025t0001g0001
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 116 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(113): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.696-322C>A
c.696-322C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 7/100 chr1 39282867
chr1:39282938 A
A
 G
G
 8 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(5): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
 8 HG00639.hp2
HG01884.hp1
HG02647.hp1
others(5): Show 
HG00639.hp2
HG01884.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.696-251A>G
c.696-251A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 7/100 chr1 39282938
chr1:39282990 G
G
 A
A
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.696-199G>A
c.696-199G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 7/100 chr1 39282990
chr1:39283113 A
A
 G
G
 8 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(5): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
 8 HG00639.hp2
HG01884.hp1
HG02647.hp1
others(5): Show 
HG00639.hp2
HG01884.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.696-76A>G
c.696-76A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 7/100 chr1 39283113
chr1:39283587 T
T
 G
G
 7 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(4): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0020c0075t0001g0211
a0022c0072t0001g0209
 7 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(4): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.915+72T>G
c.915+72T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 9/100 chr1 39283587
chr1:39284212 G
G
 T
T
 36 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(33): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0036t0002g0035
a0039c0042t0001g0021
a0051c0045t0012g0022
 36 HG00438.hp1
HG00544.hp2
HG00558.hp1
others(33): Show 
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02074.hp1
HG02135.hp1
HG02273.hp1
HG03491.hp1
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18953.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.1035+27G>T
c.1035+27G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 10/100 chr1 39284212
chr1:39284242 A
A
 G
G
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.1035+57A>G
c.1035+57A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 10/100 chr1 39284242
chr1:39284526 A
A
 G
G
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.1131+98A>G
c.1131+98A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 11/100 chr1 39284526
chr1:39284936 C
C
 T
T
 2 a0002c0003t0002g0185
a0038c0054t0002g0178
a0002c0003t0002g0185
a0038c0054t0002g0178
 2 NA18981.hp1
NA18986.hp1
NA18981.hp1
NA18986.hp1
 intron_variant MODIFIER c.1132-147C>T
c.1132-147C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 11/100 chr1 39284936
chr1:39285024 T
T
 C
C
 1 a0002c0004t0001g0223
a0002c0004t0001g0223
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.1132-59T>C
c.1132-59T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 11/100 chr1 39285024
chr1:39285454 C
C
 T
T
 1 a0048c0065t0001g0141
a0048c0065t0001g0141
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.1353+64C>T
c.1353+64C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 13/100 chr1 39285454
chr1:39285475 C
C
 G
G
 1 a0011c0013t0001g0076
a0011c0013t0001g0076
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.1353+85C>G
c.1353+85C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 13/100 chr1 39285475
chr1:39286202 C
C
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.1508+444C>T
c.1508+444C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286202
chr1:39286314 C
C
 T
T
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.1508+556C>T
c.1508+556C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286314
chr1:39286334 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1508+576C>T
c.1508+576C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286334
chr1:39286471 C
C
 T
T
 189 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(186): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0025t0001g0001
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 189 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(186): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1508+713C>T
c.1508+713C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286471
chr1:39286474 C
C
 T
T
 4 a0001c0001t0001g0048
a0001c0001t0001g0070
a0002c0039t0001g0073
others(1): Show 
a0001c0001t0001g0048
a0001c0001t0001g0070
a0002c0039t0001g0073
a0004c0038t0001g0084
 4 HG01081.hp2
HG01981.hp1
HG03490.hp2
others(1): Show 
HG01081.hp2
HG01981.hp1
HG03490.hp2
NA20805.hp1
 intron_variant MODIFIER c.1508+716C>T
c.1508+716C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286474
chr1:39286532 T
T
 C
C
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.1509-754T>C
c.1509-754T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286532
chr1:39286590 C
C
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.1509-696C>T
c.1509-696C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286590
chr1:39286678 G
G
 T
T
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.1509-608G>T
c.1509-608G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286678
chr1:39286792 T
T
 A
A
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1509-494T>A
c.1509-494T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286792
chr1:39286839 T
T
 C
C
 31 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(28): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 31 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(28): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.1509-447T>C
c.1509-447T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39286839
chr1:39286946 CATTTTTA
others(5): Show 
CATTTTTATTTTT
 C
C
 1 a0045c0070t0001g0144
a0045c0070t0001g0144
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.1509-321_1509-310d
others(14): Show 
c.1509-321_1509-310delATTTTTATTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 INFO_REALIGN_3_PRIME chr1 39286946
chr1:39287047 G
G
 A
A
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1509-239G>A
c.1509-239G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 14/100 chr1 39287047
chr1:39287664 C
C
 T
T
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.1785+102C>T
c.1785+102C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39287664
chr1:39287680 C
C
 A
A
 8 a0002c0003t0002g0184
a0004c0011t0003g0167
a0004c0011t0003g0169
others(5): Show 
a0002c0003t0002g0184
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 8 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(5): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
NA19084.hp2
 intron_variant MODIFIER c.1785+118C>A
c.1785+118C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39287680
chr1:39287906 A
A
 G
G
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1785+344A>G
c.1785+344A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39287906
chr1:39288011 C
C
 T
T
 168 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(165): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 168 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(165): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1785+449C>T
c.1785+449C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288011
chr1:39288098 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1785+536G>A
c.1785+536G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288098
chr1:39288173 A
A
 G
G
 5 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(2): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
 5 HG02976.hp1
HG03098.hp2
HG03471.hp1
others(2): Show 
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
 intron_variant MODIFIER c.1785+611A>G
c.1785+611A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288173
chr1:39288278 CACAAGCT
others(11): Show 
CACAAGCTCAGGAGATCGA
 C
C
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1785+717_1785+734d
others(20): Show 
c.1785+717_1785+734delACAAGCTCAGGAGATCGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288278
chr1:39288414 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.1785+852C>T
c.1785+852C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288414
chr1:39288429 T
T
 G
G
 9 a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
others(6): Show 
a0001c0062t0001g0006
a0002c0025t0001g0001
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.1785+867T>G
c.1785+867T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288429
chr1:39288496 T
T
 TA
TA
 50 a0001c0017t0001g0029
a0002c0003t0002g0113
a0002c0003t0002g0127
others(47): Show 
a0001c0017t0001g0029
a0002c0003t0002g0113
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0008c0010t0003g0219
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(47): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03516.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.1785+950dupA
c.1785+950dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39288496
chr1:39288542 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.1785+980G>A
c.1785+980G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288542
chr1:39288648 G
G
 A
A
 2 a0001c0001t0001g0023
a0009c0014t0010g0225
a0001c0001t0001g0023
a0009c0014t0010g0225
 2 HG03041.hp1
NA19010.hp2
HG03041.hp1
NA19010.hp2
 intron_variant MODIFIER c.1785+1086G>A
c.1785+1086G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288648
chr1:39288959 A
A
 G
G
 1 a0004c0006t0001g0069
a0004c0006t0001g0069
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1785+1397A>G
c.1785+1397A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39288959
chr1:39289210 G
G
 C
C
 2 a0006c0005t0001g0236
a0006c0005t0001g0244
a0006c0005t0001g0236
a0006c0005t0001g0244
 2 HG04115.hp1
HG04204.hp1
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.1785+1648G>C
c.1785+1648G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289210
chr1:39289221 T
T
 C
C
 1 a0004c0038t0001g0084
a0004c0038t0001g0084
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1785+1659T>C
c.1785+1659T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289221
chr1:39289285 C
C
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1785+1723C>G
c.1785+1723C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289285
chr1:39289513 T
T
 G
G
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1785+1951T>G
c.1785+1951T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289513
chr1:39289590 G
G
 T
T
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1785+2028G>T
c.1785+2028G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289590
chr1:39289693 C
C
 CT
CT
 14 a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0026
others(11): Show 
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0071
a0001c0001t0001g0097
a0001c0018t0002g0047
a0001c0041t0001g0072
a0005c0009t0003g0215
a0008c0010t0003g0219
a0015c0022t0001g0007
 14 HG00609.hp2
HG00741.hp2
HG01261.hp2
others(11): Show 
HG00609.hp2
HG00741.hp2
HG01261.hp2
HG02572.hp2
HG02723.hp2
HG02886.hp1
HG03471.hp1
HG03516.hp1
NA18939.hp1
NA18942.hp2
NA18969.hp2
NA18973.hp1
NA19091.hp2
NA19240.hp2
 intron_variant MODIFIER c.1785+2163dupT
c.1785+2163dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTT
CTT
 24 a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0038
others(21): Show 
a0001c0001t0001g0017
a0001c0001t0001g0027
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0096
a0001c0001t0001g0099
a0001c0001t0001g0107
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0018t0002g0036
a0001c0031t0001g0106
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0004c0006t0001g0049
a0004c0006t0001g0069
a0005c0009t0003g0218
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0002g0054
a0011c0013t0001g0076
a0011c0013t0001g0078
a0039c0042t0001g0021
a0052c0046t0001g0068
 24 HG00544.hp2
HG00597.hp2
HG00733.hp1
others(21): Show 
HG00544.hp2
HG00597.hp2
HG00733.hp1
HG01069.hp1
HG02004.hp2
HG02074.hp1
HG02132.hp1
HG02257.hp2
HG02486.hp2
HG02615.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03491.hp1
NA18522.hp1
NA18953.hp1
NA18960.hp1
NA18962.hp1
NA18980.hp1
NA18983.hp2
NA18988.hp1
NA18995.hp1
NA19080.hp2
NA19085.hp1
 intron_variant MODIFIER c.1785+2162_1785+216
others(6): Show 
c.1785+2162_1785+2163dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTT
CTTT
 29 a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0030
others(26): Show 
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0094
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0002g0032
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0017t0001g0028
a0001c0034t0001g0090
a0002c0039t0001g0073
a0004c0006t0001g0074
a0005c0009t0003g0216
a0005c0009t0003g0217
a0007c0007t0001g0056
a0007c0007t0002g0057
a0011c0013t0001g0079
a0013c0023t0001g0003
a0015c0022t0001g0005
a0041c0033t0001g0055
a0043c0057t0001g0168
a0051c0045t0012g0022
 29 HG00140.hp1
HG00140.hp2
HG00558.hp1
others(26): Show 
HG00140.hp1
HG00140.hp2
HG00558.hp1
HG00735.hp1
HG01106.hp2
HG01243.hp1
HG01361.hp1
HG01952.hp2
HG02040.hp1
HG02109.hp1
HG02135.hp1
HG02155.hp1
HG02976.hp1
HG03130.hp1
HG03195.hp1
HG03239.hp1
HG03486.hp1
HG03579.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp1
NA18971.hp1
NA18974.hp2
NA18986.hp2
NA18999.hp1
NA19002.hp1
NA19010.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.1785+2161_1785+216
others(7): Show 
c.1785+2161_1785+2163dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTT
CTTTT
 18 a0001c0001t0001g0024
a0001c0001t0001g0040
a0001c0001t0001g0041
others(15): Show 
a0001c0001t0001g0024
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0070
a0001c0001t0001g0080
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0062t0001g0006
a0004c0006t0001g0077
a0004c0006t0001g0083
a0006c0005t0001g0235
a0008c0010t0003g0220
a0008c0010t0003g0221
a0017c0020t0001g0085
a0046c0044t0001g0100
 18 HG00280.hp2
HG01081.hp2
HG01099.hp1
others(15): Show 
HG00280.hp2
HG01081.hp2
HG01099.hp1
HG01346.hp1
HG02055.hp1
HG02145.hp1
HG02273.hp1
HG02572.hp1
HG02738.hp2
HG03041.hp2
HG03209.hp2
HG03453.hp1
HG03927.hp1
NA18975.hp1
NA18981.hp2
NA18990.hp1
NA19000.hp1
NA19030.hp2
 intron_variant MODIFIER c.1785+2160_1785+216
others(8): Show 
c.1785+2160_1785+2163dupTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTT
CTTTTT
 12 a0001c0001t0001g0087
a0001c0012t0001g0058
a0001c0012t0001g0059
others(9): Show 
a0001c0001t0001g0087
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0004c0006t0001g0075
a0004c0019t0001g0050
a0004c0035t0001g0063
a0007c0007t0001g0101
a0025c0030t0001g0067
a0032c0043t0001g0064
a0044c0032t0001g0102
a0053c0077t0001g0020
 12 HG01167.hp1
HG02015.hp2
HG02129.hp2
others(9): Show 
HG01167.hp1
HG02015.hp2
HG02129.hp2
HG02280.hp2
HG02523.hp1
HG02683.hp2
HG03704.hp1
HG03704.hp2
NA18954.hp1
NA18987.hp2
NA19086.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1785+2159_1785+216
others(9): Show 
c.1785+2159_1785+2163dupTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTT
CTTTTTT
 8 a0001c0001t0001g0048
a0001c0001t0002g0016
a0001c0017t0001g0029
others(5): Show 
a0001c0001t0001g0048
a0001c0001t0002g0016
a0001c0017t0001g0029
a0004c0006t0001g0062
a0004c0011t0003g0169
a0004c0019t0001g0052
a0010c0016t0004g0140
a0017c0020t0001g0086
 8 HG00558.hp2
HG01109.hp1
HG01433.hp1
others(5): Show 
HG00558.hp2
HG01109.hp1
HG01433.hp1
HG01981.hp1
HG02071.hp2
HG04115.hp2
HG06807.hp1
NA19083.hp1
 intron_variant MODIFIER c.1785+2158_1785+216
others(10): Show 
c.1785+2158_1785+2163dupTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
CTTTTTTT
 14 a0003c0002t0001g0108
a0003c0002t0001g0114
a0003c0002t0001g0118
others(11): Show 
a0003c0002t0001g0108
a0003c0002t0001g0114
a0003c0002t0001g0118
a0003c0002t0001g0128
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0161
a0004c0011t0003g0167
a0004c0011t0003g0170
a0004c0011t0003g0171
a0018c0027t0001g0157
a0019c0028t0001g0130
a0045c0070t0001g0144
a0047c0068t0001g0129
 14 HG00544.hp1
HG00639.hp1
HG00733.hp2
others(11): Show 
HG00544.hp1
HG00639.hp1
HG00733.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02602.hp1
NA18942.hp1
NA18954.hp2
NA18971.hp2
NA18995.hp2
NA19083.hp2
NA19085.hp2
NA19088.hp1
 intron_variant MODIFIER c.1785+2157_1785+216
others(11): Show 
c.1785+2157_1785+2163dupTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 17 a0002c0003t0002g0127
a0003c0002t0001g0109
a0003c0002t0001g0126
others(14): Show 
a0002c0003t0002g0127
a0003c0002t0001g0109
a0003c0002t0001g0126
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0152
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0066t0001g0117
a0006c0005t0001g0234
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0145
a0019c0028t0001g0132
 17 HG01099.hp2
HG02015.hp1
HG02074.hp2
others(14): Show 
HG01099.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02523.hp2
HG02647.hp2
HG02683.hp1
HG03927.hp2
HG04115.hp1
NA18939.hp2
NA18966.hp2
NA18974.hp1
NA18980.hp2
NA19000.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1785+2156_1785+216
others(12): Show 
c.1785+2156_1785+2163dupTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 9 a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0115
others(6): Show 
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0115
a0003c0002t0001g0125
a0003c0002t0001g0155
a0003c0002t0002g0137
a0006c0005t0001g0236
a0006c0005t0001g0239
a0018c0027t0001g0158
 9 HG00280.hp1
HG00642.hp2
HG00735.hp2
others(6): Show 
HG00280.hp1
HG00642.hp2
HG00735.hp2
HG02976.hp2
HG03540.hp2
HG04204.hp1
NA18960.hp2
NA18973.hp2
NA18990.hp2
 intron_variant MODIFIER c.1785+2155_1785+216
others(13): Show 
c.1785+2155_1785+2163dupTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 10 a0003c0002t0001g0122
a0003c0002t0001g0131
a0003c0002t0001g0134
others(7): Show 
a0003c0002t0001g0122
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0151
a0003c0002t0001g0153
a0006c0005t0001g0238
a0006c0005t0001g0240
a0048c0065t0001g0141
 10 HG00741.hp1
HG02004.hp1
HG02135.hp2
others(7): Show 
HG00741.hp1
HG02004.hp1
HG02135.hp2
HG02738.hp1
HG03490.hp1
HG03516.hp2
NA18943.hp2
NA18975.hp2
NA19011.hp1
NA20300.hp2
 intron_variant MODIFIER c.1785+2154_1785+216
others(14): Show 
c.1785+2154_1785+2163dupTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 5 a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0071t0001g0120
others(2): Show 
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0071t0001g0120
a0004c0038t0001g0084
a0049c0067t0001g0116
 5 HG01361.hp2
HG01433.hp2
HG01981.hp2
others(2): Show 
HG01361.hp2
HG01433.hp2
HG01981.hp2
HG02273.hp2
HG03490.hp2
 intron_variant MODIFIER c.1785+2153_1785+216
others(15): Show 
c.1785+2153_1785+2163dupTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 1 a0010c0064t0004g0133
a0010c0064t0004g0133
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1785+2150_1785+216
others(18): Show 
c.1785+2150_1785+2163dupTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 1 a0003c0002t0001g0124
a0003c0002t0001g0124
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1785+2149_1785+216
others(19): Show 
c.1785+2149_1785+2163dupTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 1 a0003c0002t0001g0121
a0003c0002t0001g0121
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.1785+2148_1785+216
others(20): Show 
c.1785+2148_1785+2163dupTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(13): Show 
CTTTTTTTTTTTTTTTTTTTT
 1 a0003c0002t0001g0119
a0003c0002t0001g0119
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.1785+2144_1785+216
others(24): Show 
c.1785+2144_1785+2163dupTTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(17): Show 
CTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0050c0069t0001g0123
a0050c0069t0001g0123
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.1785+2140_1785+216
others(28): Show 
c.1785+2140_1785+2163dupTTTTTTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 C
C
 CTTTTTTT
others(28): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0003c0002t0001g0154
a0003c0002t0001g0154
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.1785+2163_1785+216
others(39): Show 
c.1785+2163_1785+2164insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 CT
CT
 C
C
 6 a0012c0029t0001g0212
a0014c0021t0001g0226
a0014c0021t0001g0227
others(3): Show 
a0012c0029t0001g0212
a0014c0021t0001g0226
a0014c0021t0001g0227
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
 6 HG01884.hp2
HG02615.hp1
HG02896.hp1
others(3): Show 
HG01884.hp2
HG02615.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp2
NA21309.hp1
 intron_variant MODIFIER c.1785+2163delT
c.1785+2163delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 CTT
CTT
 C
C
 21 a0002c0003t0001g0186
a0002c0003t0002g0180
a0002c0003t0002g0231
others(18): Show 
a0002c0003t0001g0186
a0002c0003t0002g0180
a0002c0003t0002g0231
a0002c0004t0001g0010
a0002c0004t0001g0193
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0006c0005t0001g0237
a0008c0010t0001g0208
a0020c0075t0001g0211
a0030c0060t0001g0241
a0036c0048t0001g0008
 21 HG00438.hp2
HG00642.hp1
HG01106.hp1
others(18): Show 
HG00438.hp2
HG00642.hp1
HG01106.hp1
HG01167.hp2
HG01884.hp1
HG02145.hp2
HG02486.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG03486.hp2
NA18953.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA20300.hp1
 intron_variant MODIFIER c.1785+2162_1785+216
others(6): Show 
c.1785+2162_1785+2163delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 CTTT
CTTT
 C
C
 25 a0002c0003t0001g0187
a0002c0003t0002g0181
a0002c0003t0002g0184
others(22): Show 
a0002c0003t0001g0187
a0002c0003t0002g0181
a0002c0003t0002g0184
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0195
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0024t0001g0198
a0002c0024t0001g0203
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0027c0063t0002g0229
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0042c0052t0001g0201
 25 HG00639.hp2
HG01069.hp2
HG01081.hp1
others(22): Show 
HG00639.hp2
HG01069.hp2
HG01081.hp1
HG01346.hp2
HG02071.hp1
HG02165.hp2
HG02257.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG03041.hp1
HG03130.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA18983.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19084.hp2
NA20129.hp1
 intron_variant MODIFIER c.1785+2161_1785+216
others(7): Show 
c.1785+2161_1785+2163delTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 CTTTT
CTTTT
 C
C
 13 a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0182
others(10): Show 
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0246
a0006c0005t0001g0242
a0006c0005t0001g0243
a0016c0026t0001g0173
a0016c0026t0001g0174
a0031c0059t0002g0177
a0038c0054t0002g0178
 13 HG00597.hp1
HG02040.hp2
HG02155.hp2
others(10): Show 
HG00597.hp1
HG02040.hp2
HG02155.hp2
HG02602.hp2
HG03239.hp2
HG03491.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18986.hp1
NA19080.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.1785+2160_1785+216
others(8): Show 
c.1785+2160_1785+2163delTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 C
C
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.1785+2151_1785+216
others(17): Show 
c.1785+2151_1785+2163delTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289693 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 C
C
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.1785+2147_1785+216
others(21): Show 
c.1785+2147_1785+2163delTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39289693
chr1:39289849 G
G
 A
A
 1 a0010c0064t0004g0133
a0010c0064t0004g0133
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1786-2061G>A
c.1786-2061G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289849
chr1:39289947 G
G
 A
A
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.1786-1963G>A
c.1786-1963G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289947
chr1:39289971 A
A
 G
G
 1 a0005c0009t0003g0218
a0005c0009t0003g0218
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1786-1939A>G
c.1786-1939A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39289971
chr1:39290083 A
A
 G
G
 1 a0004c0038t0001g0084
a0004c0038t0001g0084
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.1786-1827A>G
c.1786-1827A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290083
chr1:39290356 G
G
 T
T
 1 a0003c0002t0001g0111
a0003c0002t0001g0111
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.1786-1554G>T
c.1786-1554G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290356
chr1:39290465 G
G
 A
A
 1 a0038c0054t0002g0178
a0038c0054t0002g0178
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.1786-1445G>A
c.1786-1445G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290465
chr1:39290597 GT
GT
 G
G
 95 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(92): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0036t0002g0035
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0039c0042t0001g0021
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
 95 HG00280.hp1
HG00438.hp1
HG00544.hp1
others(92): Show 
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp1
HG02135.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02965.hp1
HG03098.hp1
HG03195.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18953.hp1
NA18954.hp2
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA21309.hp1
 intron_variant MODIFIER c.1786-1297delT
c.1786-1297delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39290597
chr1:39290597 GTT
GTT
 G
G
 134 a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0051
others(131): Show 
a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0052c0046t0001g0068
a0053c0077t0001g0020
 134 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(131): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp2
HG01433.hp1
HG01884.hp1
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19000.hp1
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19084.hp2
NA19088.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1786-1298_1786-129
others(6): Show 
c.1786-1298_1786-1297delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39290597
chr1:39290645 G
G
 A
A
 90 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 90 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1786-1265G>A
c.1786-1265G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290645
chr1:39290665 CT
CT
 C
C
 182 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(179): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 182 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(179): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1786-1226delT
c.1786-1226delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39290665
chr1:39290665 CTT
CTT
 C
C
 13 a0001c0062t0001g0006
a0002c0003t0002g0093
a0003c0002t0001g0128
others(10): Show 
a0001c0062t0001g0006
a0002c0003t0002g0093
a0003c0002t0001g0128
a0004c0035t0001g0063
a0009c0047t0001g0189
a0010c0016t0004g0145
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 13 HG01069.hp2
HG01167.hp1
HG02109.hp1
others(10): Show 
HG01069.hp2
HG01167.hp1
HG02109.hp1
HG02523.hp2
HG02572.hp2
HG02897.hp1
HG03453.hp2
NA18522.hp2
NA18942.hp1
NA18962.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.1786-1227_1786-122
others(6): Show 
c.1786-1227_1786-1226delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39290665
chr1:39290761 G
G
 A
A
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.1786-1149G>A
c.1786-1149G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290761
chr1:39290843 AT
AT
 A
A
 10 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
others(7): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 10 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(7): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.1786-1056delT
c.1786-1056delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 INFO_REALIGN_3_PRIME chr1 39290843
chr1:39290917 C
C
 T
T
 2 a0002c0003t0002g0182
a0031c0059t0002g0177
a0002c0003t0002g0182
a0031c0059t0002g0177
 2 HG02155.hp2
NA18969.hp1
HG02155.hp2
NA18969.hp1
 intron_variant MODIFIER c.1786-993C>T
c.1786-993C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290917
chr1:39290918 G
G
 A
A
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1786-992G>A
c.1786-992G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290918
chr1:39290918 G
G
 T
T
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1786-992G>T
c.1786-992G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39290918
chr1:39291060 C
C
 T
T
 5 a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
others(2): Show 
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0030c0060t0001g0241
 5 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(2): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.1786-850C>T
c.1786-850C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39291060
chr1:39291272 T
T
 C
C
 166 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(163): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 166 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(163): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1786-638T>C
c.1786-638T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39291272
chr1:39291486 T
T
 C
C
 1 a0003c0002t0001g0161
a0003c0002t0001g0161
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.1786-424T>C
c.1786-424T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39291486
chr1:39291486 T
T
 G
G
 4 a0005c0008t0001g0207
a0005c0008t0001g0210
a0020c0075t0001g0211
others(1): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0020c0075t0001g0211
a0022c0072t0001g0209
 4 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(1): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
 intron_variant MODIFIER c.1786-424T>G
c.1786-424T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 15/100 chr1 39291486
chr1:39292078 G
G
 A
A
 1 a0004c0006t0001g0069
a0004c0006t0001g0069
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1914+40G>A
c.1914+40G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 16/100 chr1 39292078
chr1:39292127 G
G
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.1914+89G>C
c.1914+89G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 16/100 chr1 39292127
chr1:39292137 C
C
 T
T
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.1914+99C>T
c.1914+99C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 16/100 chr1 39292137
chr1:39292277 G
G
 A
A
 1 a0002c0003t0002g0185
a0002c0003t0002g0185
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.1914+239G>A
c.1914+239G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 16/100 chr1 39292277
chr1:39292592 G
G
 A
A
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.1915-174G>A
c.1915-174G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 16/100 chr1 39292592
chr1:39292674 A
A
 G
G
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1915-92A>G
c.1915-92A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 16/100 chr1 39292674
chr1:39292962 G
G
 A
A
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.1992+119G>A
c.1992+119G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 17/100 chr1 39292962
chr1:39293283 A
A
 G
G
 119 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(116): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 119 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(116): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1993-175A>G
c.1993-175A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 17/100 chr1 39293283
chr1:39293321 C
C
 G
G
 110 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(107): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0020c0075t0001g0211
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 110 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(107): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1993-137C>G
c.1993-137C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 17/100 chr1 39293321
chr1:39293669 A
A
 C
C
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2154+50A>C
c.2154+50A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39293669
chr1:39293695 AGCTTGGG
others(2): Show 
AGCTTGGGTG
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2154+80_2154+88del
others(9): Show 
c.2154+80_2154+88delTGGGTGGCT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 INFO_REALIGN_3_PRIME chr1 39293695
chr1:39293750 GCATC
GCATC
 G
G
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.2154+135_2154+138d
others(6): Show 
c.2154+135_2154+138delCCAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 INFO_REALIGN_3_PRIME chr1 39293750
chr1:39293757 T
T
 C
C
 4 a0005c0008t0001g0207
a0005c0008t0001g0210
a0020c0075t0001g0211
others(1): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0020c0075t0001g0211
a0022c0072t0001g0209
 4 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(1): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
 intron_variant MODIFIER c.2154+138T>C
c.2154+138T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39293757
chr1:39293992 G
G
 C
C
 3 a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
 3 HG02071.hp2
NA18971.hp1
NA18987.hp2
HG02071.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.2154+373G>C
c.2154+373G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39293992
chr1:39294050 C
C
 T
T
 1 a0001c0012t0001g0059
a0001c0012t0001g0059
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2154+431C>T
c.2154+431C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39294050
chr1:39294071 A
A
 G
G
 2 a0004c0006t0001g0062
a0004c0035t0001g0063
a0004c0006t0001g0062
a0004c0035t0001g0063
 2 HG01109.hp1
HG01167.hp1
HG01109.hp1
HG01167.hp1
 intron_variant MODIFIER c.2154+452A>G
c.2154+452A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39294071
chr1:39294145 A
A
 G
G
 7 a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
others(4): Show 
a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 7 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(4): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.2154+526A>G
c.2154+526A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39294145
chr1:39294314 A
A
 G
G
 1 a0002c0003t0002g0228
a0002c0003t0002g0228
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.2154+695A>G
c.2154+695A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39294314
chr1:39294447 C
C
 T
T
 1 a0001c0001t0002g0033
a0001c0001t0002g0033
 1 NA18953.hp1
NA18953.hp1
 intron_variant MODIFIER c.2155-599C>T
c.2155-599C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39294447
chr1:39294496 T
T
 C
C
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.2155-550T>C
c.2155-550T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39294496
chr1:39294598 A
A
 G
G
 1 a0012c0029t0001g0165
a0012c0029t0001g0165
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2155-448A>G
c.2155-448A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 18/100 chr1 39294598
chr1:39295267 T
T
 C
C
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2259+117T>C
c.2259+117T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 19/100 chr1 39295267
chr1:39295304 A
A
 G
G
 1 a0003c0002t0001g0139
a0003c0002t0001g0139
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.2259+154A>G
c.2259+154A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 19/100 chr1 39295304
chr1:39295310 C
C
 T
T
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.2259+160C>T
c.2259+160C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 19/100 chr1 39295310
chr1:39295479 A
A
 G
G
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.2260-308A>G
c.2260-308A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 19/100 chr1 39295479
chr1:39295491 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.2260-296A>G
c.2260-296A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 19/100 chr1 39295491
chr1:39296116 G
G
 C
C
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.2355+234G>C
c.2355+234G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296116
chr1:39296128 G
G
 C
C
 5 a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0089
others(2): Show 
a0001c0001t0001g0038
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0002g0088
a0039c0042t0001g0021
 5 HG00558.hp1
NA18962.hp1
NA18988.hp1
others(2): Show 
HG00558.hp1
NA18962.hp1
NA18988.hp1
NA18990.hp1
NA19086.hp2
 intron_variant MODIFIER c.2355+246G>C
c.2355+246G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296128
chr1:39296380 T
T
 G
G
 170 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(167): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 170 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(167): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2355+498T>G
c.2355+498T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296380
chr1:39296531 A
A
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2355+649A>G
c.2355+649A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296531
chr1:39296701 G
G
 T
T
 1 a0008c0010t0003g0219
a0008c0010t0003g0219
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.2355+819G>T
c.2355+819G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296701
chr1:39296747 A
A
 AAAGG
AAAGG
 18 a0002c0003t0001g0186
a0002c0003t0002g0093
a0002c0003t0002g0180
others(15): Show 
a0002c0003t0001g0186
a0002c0003t0002g0093
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 18 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(15): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA19002.hp2
NA20805.hp2
 intron_variant MODIFIER c.2355+868_2355+869i
others(6): Show 
c.2355+868_2355+869insGAAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296747
chr1:39296747 A
A
 AAAGGAAG
others(1): Show 
AAAGGAAGG
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.2355+868_2355+869i
others(10): Show 
c.2355+868_2355+869insGAAGGAAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296747
chr1:39296747 A
A
 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2355+868_2355+869i
others(14): Show 
c.2355+868_2355+869insGAAGGAAGGAAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296747
chr1:39296747 A
A
 AAAGGAAG
others(9): Show 
AAAGGAAGGAAGGAAGG
 3 a0001c0062t0001g0006
a0015c0022t0001g0005
a0028c0050t0008g0233
a0001c0062t0001g0006
a0015c0022t0001g0005
a0028c0050t0008g0233
 3 HG02965.hp1
NA18522.hp2
NA19030.hp2
HG02965.hp1
NA18522.hp2
NA19030.hp2
 intron_variant MODIFIER c.2355+868_2355+869i
others(18): Show 
c.2355+868_2355+869insGAAGGAAGGAAGGAAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296747
chr1:39296747 A
A
 AAAGGAAG
others(17): Show 
AAAGGAAGGAAGGAAGGAAGGAAGG
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2355+868_2355+869i
others(26): Show 
c.2355+868_2355+869insGAAGGAAGGAAGGAAGGAAGGAAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296747
chr1:39296751 A
A
 AAAGG
AAAGG
 6 a0005c0008t0005g0163
a0006c0005t0001g0235
a0006c0005t0001g0238
others(3): Show 
a0005c0008t0005g0163
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0030c0060t0001g0241
 6 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(3): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.2356-850_2356-847d
others(6): Show 
c.2356-850_2356-847dupGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296751
chr1:39296751 A
A
 AAAGGAAG
others(1): Show 
AAAGGAAGG
 19 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(16): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0164
a0009c0014t0010g0225
a0033c0053t0001g0200
a0042c0052t0001g0201
 19 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(16): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA20300.hp1
 intron_variant MODIFIER c.2356-854_2356-847d
others(10): Show 
c.2356-854_2356-847dupGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296751
chr1:39296751 A
A
 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 5 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(2): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0009c0014t0009g0192
 5 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(2): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.2356-858_2356-847d
others(14): Show 
c.2356-858_2356-847dupGGAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296751
chr1:39296751 A
A
 AAAGGAAG
others(9): Show 
AAAGGAAGGAAGGAAGG
 10 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(7): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0220
a0008c0010t0003g0221
a0053c0077t0001g0020
 10 HG02071.hp2
HG02976.hp1
HG03098.hp2
others(7): Show 
HG02071.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.2356-862_2356-847d
others(18): Show 
c.2356-862_2356-847dupGGAAGGAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296751
chr1:39296751 A
A
 AAAGGAAG
others(13): Show 
AAAGGAAGGAAGGAAGGAAGG
 5 a0005c0008t0007g0166
a0012c0029t0001g0165
a0012c0029t0001g0212
others(2): Show 
a0005c0008t0007g0166
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0029c0061t0003g0232
 5 HG01884.hp2
HG02895.hp1
HG03195.hp2
others(2): Show 
HG01884.hp2
HG02895.hp1
HG03195.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.2356-866_2356-847d
others(22): Show 
c.2356-866_2356-847dupGGAAGGAAGGAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296751
chr1:39296751 A
A
 G
G
 132 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(129): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0003g0213
a0009c0014t0001g0190
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0020c0075t0001g0211
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 132 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(129): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2355+869A>G
c.2355+869A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296751
chr1:39296763 GAAGGAAG
others(19): Show 
GAAGGAAGGAAAAGAAAGAAAGAAAGA
 G
G
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.2356-846_2356-821d
others(28): Show 
c.2356-846_2356-821delAAGAAAGAAAGAAAGAAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296763
chr1:39296771 GAA
GAA
 G
G
 4 a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
others(1): Show 
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0040c0051t0001g0205
 4 HG01109.hp2
HG03516.hp1
NA19010.hp1
others(1): Show 
HG01109.hp2
HG03516.hp1
NA19010.hp1
NA19043.hp2
 intron_variant MODIFIER c.2356-846_2356-845d
others(4): Show 
c.2356-846_2356-845delAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296771
chr1:39296771 GAAAAGAA
others(7): Show 
GAAAAGAAAGAAAGA
 G
G
 17 a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0045
others(14): Show 
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0045
a0001c0001t0001g0051
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0037t0001g0095
a0007c0007t0001g0081
a0017c0020t0001g0086
a0044c0032t0001g0102
a0052c0046t0001g0068
 17 HG00609.hp2
HG00735.hp1
HG01069.hp1
others(14): Show 
HG00609.hp2
HG00735.hp1
HG01069.hp1
HG01433.hp1
HG02004.hp2
HG02015.hp2
HG02129.hp2
HG02615.hp2
NA18942.hp2
NA18960.hp1
NA18969.hp2
NA18980.hp1
NA18983.hp2
NA18986.hp2
NA19002.hp1
NA19240.hp2
NA21309.hp2
 intron_variant MODIFIER c.2356-846_2356-833d
others(16): Show 
c.2356-846_2356-833delAAGAAAGAAAGAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296771
chr1:39296771 GAAAAGAA
others(11): Show 
GAAAAGAAAGAAAGAAAGA
 G
G
 50 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(47): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0037
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0036t0002g0035
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0020c0075t0001g0211
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0046c0044t0001g0100
a0051c0045t0012g0022
 50 HG00438.hp1
HG00544.hp2
HG00733.hp1
others(47): Show 
HG00438.hp1
HG00544.hp2
HG00733.hp1
HG00741.hp2
HG01106.hp2
HG01109.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02040.hp1
HG02074.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp2
HG02523.hp1
HG02717.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03239.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18939.hp1
NA18943.hp1
NA18954.hp1
NA18962.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18981.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20805.hp1
 intron_variant MODIFIER c.2356-846_2356-829d
others(20): Show 
c.2356-846_2356-829delAAGAAAGAAAGAAAGAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296771
chr1:39296773 A
A
 AGG
AGG
 16 a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0070
others(13): Show 
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0088
a0003c0002t0001g0135
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0048c0065t0001g0141
 16 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(13): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00558.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01981.hp1
HG02135.hp2
HG02683.hp2
HG02723.hp2
HG04115.hp2
NA18953.hp1
NA19084.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2356-847_2356-846i
others(4): Show 
c.2356-847_2356-846insGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296773
chr1:39296773 A
A
 AGGAAGG
AGGAAGG
 9 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
others(6): Show 
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0034t0001g0090
a0004c0006t0001g0049
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0024c0076t0003g0222
 9 HG02055.hp1
HG02145.hp1
HG02257.hp2
others(6): Show 
HG02055.hp1
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG03098.hp1
HG03195.hp1
HG03486.hp1
HG03491.hp1
NA21309.hp1
 intron_variant MODIFIER c.2356-847_2356-846i
others(8): Show 
c.2356-847_2356-846insGGAAGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296773
chr1:39296773 A
A
 AGGAAGGA
others(7): Show 
AGGAAGGAAGGAAGG
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2356-847_2356-846i
others(16): Show 
c.2356-847_2356-846insGGAAGGAAGGAAGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296773
chr1:39296774 A
A
 G
G
 53 a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0127
others(50): Show 
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0127
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 53 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(50): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19011.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2356-846A>G
c.2356-846A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296774
chr1:39296775 A
A
 G
G
 53 a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0127
others(50): Show 
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0127
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 53 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(50): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19011.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2356-845A>G
c.2356-845A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296775
chr1:39296776 G
G
 A
A
 53 a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0127
others(50): Show 
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0127
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 53 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(50): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19011.hp2
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2356-844G>A
c.2356-844G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296776
chr1:39296776 G
G
 GGA
GGA
 25 a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0070
others(22): Show 
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0099
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0088
a0001c0034t0001g0090
a0001c0040t0001g0014
a0003c0002t0001g0135
a0004c0006t0001g0049
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0048c0065t0001g0141
 25 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(22): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00558.hp1
HG00597.hp2
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01981.hp1
HG02055.hp1
HG02135.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02683.hp2
HG02723.hp2
HG03098.hp1
HG03195.hp1
HG03486.hp1
HG03491.hp1
HG04115.hp2
NA18522.hp1
NA18953.hp1
NA19084.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2356-844_2356-843i
others(4): Show 
c.2356-844_2356-843insGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296776
chr1:39296777 A
A
 G
G
 5 a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
others(2): Show 
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0024c0076t0003g0222
a0040c0051t0001g0205
 5 HG01109.hp2
HG03516.hp1
NA19010.hp1
others(2): Show 
HG01109.hp2
HG03516.hp1
NA19010.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.2356-843A>G
c.2356-843A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296777
chr1:39296781 A
A
 G
G
 5 a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
others(2): Show 
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0024c0076t0003g0222
a0040c0051t0001g0205
 5 HG01109.hp2
HG03516.hp1
NA19010.hp1
others(2): Show 
HG01109.hp2
HG03516.hp1
NA19010.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.2356-839A>G
c.2356-839A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296781
chr1:39296785 A
A
 G
G
 5 a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
others(2): Show 
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0024c0076t0003g0222
a0040c0051t0001g0205
 5 HG01109.hp2
HG03516.hp1
NA19010.hp1
others(2): Show 
HG01109.hp2
HG03516.hp1
NA19010.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.2356-835A>G
c.2356-835A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296785
chr1:39296789 A
A
 G
G
 177 a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0045
others(174): Show 
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0107
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0081
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
a0053c0077t0001g0020
 177 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(174): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2356-831A>G
c.2356-831A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296789
chr1:39296789 AAAGGAAG
others(31): Show 
AAAGGAAGGAAGGAAAAGAAAGAAAGGAAGGAAGGAAGG
 A
A
 1 a0002c0003t0001g0187
a0002c0003t0001g0187
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.2356-816_2356-779d
others(40): Show 
c.2356-816_2356-779delAAGAAAGAAAGGAAGGAAGGAAGGAAGG
AAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296789
chr1:39296800 G
G
 A
A
 2 a0008c0010t0003g0213
a0040c0051t0001g0205
a0008c0010t0003g0213
a0040c0051t0001g0205
 2 HG01109.hp2
NA19010.hp1
HG01109.hp2
NA19010.hp1
 intron_variant MODIFIER c.2356-820G>A
c.2356-820G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296800
chr1:39296801 G
G
 A
A
 2 a0008c0010t0003g0213
a0040c0051t0001g0205
a0008c0010t0003g0213
a0040c0051t0001g0205
 2 HG01109.hp2
NA19010.hp1
HG01109.hp2
NA19010.hp1
 intron_variant MODIFIER c.2356-819G>A
c.2356-819G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296801
chr1:39296802 A
A
 AAAAG
AAAAG
 12 a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0070
others(9): Show 
a0001c0001t0001g0048
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0002g0033
a0001c0001t0002g0088
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0035t0001g0063
 12 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(9): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00558.hp1
HG01081.hp2
HG01099.hp1
HG01167.hp1
HG01981.hp1
HG02683.hp2
HG02723.hp2
NA18953.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2356-809_2356-806d
others(6): Show 
c.2356-809_2356-806dupAAAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296802
chr1:39296802 A
A
 AAAAGAAA
others(23): Show 
AAAAGAAAGAAAGGAAGGAAGGAAGGAAAAG
 45 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(42): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0037
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0047
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0069
a0004c0038t0001g0084
a0020c0075t0001g0211
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0051c0045t0012g0022
a0052c0046t0001g0068
 45 HG00609.hp2
HG00733.hp1
HG00741.hp2
others(42): Show 
HG00609.hp2
HG00733.hp1
HG00741.hp2
HG01069.hp1
HG01106.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02040.hp1
HG02074.hp1
HG02129.hp2
HG02135.hp1
HG02273.hp1
HG02280.hp2
HG02615.hp2
HG02717.hp2
HG02886.hp1
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18939.hp1
NA18943.hp1
NA18954.hp1
NA18962.hp1
NA18974.hp2
NA18980.hp1
NA18981.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19002.hp1
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20805.hp1
 intron_variant MODIFIER c.2356-791_2356-790i
others(32): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAAGG
AA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296802
chr1:39296802 A
A
 G
G
 2 a0008c0010t0003g0213
a0040c0051t0001g0205
a0008c0010t0003g0213
a0040c0051t0001g0205
 2 HG01109.hp2
NA19010.hp1
HG01109.hp2
NA19010.hp1
 intron_variant MODIFIER c.2356-818A>G
c.2356-818A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296802
chr1:39296804 A
A
 G
G
 4 a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
others(1): Show 
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 4 HG00597.hp1
HG02132.hp2
NA18987.hp1
others(1): Show 
HG00597.hp1
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.2356-816A>G
c.2356-816A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296804
chr1:39296805 A
A
 G
G
 4 a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
others(1): Show 
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 4 HG00597.hp1
HG02132.hp2
NA18987.hp1
others(1): Show 
HG00597.hp1
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.2356-815A>G
c.2356-815A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296805
chr1:39296806 G
G
 A
A
 4 a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
others(1): Show 
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 4 HG00597.hp1
HG02132.hp2
NA18987.hp1
others(1): Show 
HG00597.hp1
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.2356-814G>A
c.2356-814G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296806
chr1:39296811 A
A
 AAAGAAAG
others(1): Show 
AAAGAAAGG
 8 a0001c0062t0001g0006
a0004c0019t0001g0052
a0013c0023t0001g0003
others(5): Show 
a0001c0062t0001g0006
a0004c0019t0001g0052
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 8 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(5): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG04115.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.2356-806_2356-805i
others(10): Show 
c.2356-806_2356-805insAAAGGAAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296811
chr1:39296811 A
A
 AAAGGAAG
others(5): Show 
AAAGGAAGGAAGG
 2 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0091
a0001c0001t0001g0092
 2 HG02055.hp1
HG02145.hp1
HG02055.hp1
HG02145.hp1
 intron_variant MODIFIER c.2356-786_2356-775d
others(14): Show 
c.2356-786_2356-775dupGGAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296811
chr1:39296811 A
A
 AAAGGAAG
others(27): Show 
AAAGGAAGGAAGGAAGGAAAAGAAAGAAAGAAAGG
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2356-791_2356-790i
others(36): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAAGG
AAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296811
chr1:39296811 A
A
 AAAGGAAG
others(39): Show 
AAAGGAAGGAAGGAAGGAAAAGAAAGAAAGAAAGGAAGGAAGGAAGG
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2356-791_2356-790i
others(48): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAAGG
AAGGAAGGAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296811
chr1:39296811 AAAGG
AAAGG
 A
A
 58 a0002c0003t0002g0127
a0003c0002t0001g0110
a0003c0002t0001g0111
others(55): Show 
a0002c0003t0002g0127
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0244
a0009c0014t0001g0190
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0030c0060t0001g0241
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 58 HG00544.hp1
HG00558.hp2
HG00609.hp1
others(55): Show 
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02572.hp1
HG02647.hp2
HG02683.hp1
HG02809.hp1
HG02922.hp1
HG02976.hp2
HG03130.hp2
HG03239.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG04115.hp1
HG04204.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.2356-778_2356-775d
others(6): Show 
c.2356-778_2356-775delGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296811
chr1:39296811 AAAGGAAG
others(1): Show 
AAAGGAAGG
 A
A
 67 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(64): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0155
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0022c0072t0001g0209
a0023c0074t0001g0206
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0042c0052t0001g0201
a0053c0077t0001g0020
 67 HG00280.hp1
HG00438.hp2
HG00639.hp2
others(64): Show 
HG00280.hp1
HG00438.hp2
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp2
NA19002.hp2
NA19043.hp1
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2356-782_2356-775d
others(10): Show 
c.2356-782_2356-775delGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296811
chr1:39296815 G
G
 A
A
 15 a0001c0001t0002g0034
a0002c0003t0002g0044
a0002c0015t0002g0112
others(12): Show 
a0001c0001t0002g0034
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0008c0010t0001g0208
a0008c0010t0003g0219
a0014c0021t0001g0226
a0014c0021t0001g0227
a0024c0076t0003g0222
a0043c0057t0001g0168
 15 HG00597.hp1
HG00597.hp2
HG01243.hp1
others(12): Show 
HG00597.hp1
HG00597.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02132.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG03516.hp1
HG06807.hp1
NA18987.hp1
NA19011.hp2
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.2356-805G>A
c.2356-805G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296815
chr1:39296815 G
G
 GAAGGAAG
others(19): Show 
GAAGGAAGGAAGGAAAAGAAAGAAAGA
 17 a0001c0001t0001g0023
a0001c0001t0001g0030
a0001c0001t0001g0045
others(14): Show 
a0001c0001t0001g0023
a0001c0001t0001g0030
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
a0001c0001t0001g0103
a0001c0001t0006g0066
a0001c0018t0002g0036
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0044c0032t0001g0102
 17 HG00544.hp2
HG00735.hp1
HG01433.hp1
others(14): Show 
HG00544.hp2
HG00735.hp1
HG01433.hp1
HG02015.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03239.hp1
NA18942.hp2
NA18960.hp1
NA18969.hp2
NA18973.hp1
NA19000.hp1
NA19010.hp2
NA19080.hp2
NA21309.hp2
 intron_variant MODIFIER c.2356-791_2356-790i
others(28): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296815
chr1:39296819 G
G
 A
A
 14 a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
others(11): Show 
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0110
a0003c0002t0001g0111
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0009c0014t0001g0190
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 14 HG00597.hp1
HG00642.hp2
HG00735.hp2
others(11): Show 
HG00597.hp1
HG00642.hp2
HG00735.hp2
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02132.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG03130.hp2
HG06807.hp1
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.2356-801G>A
c.2356-801G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296819
chr1:39296819 G
G
 GAAGGAAG
others(15): Show 
GAAGGAAGGAAAAGAAAGAAAGA
 2 a0004c0006t0001g0062
a0046c0044t0001g0100
a0004c0006t0001g0062
a0046c0044t0001g0100
 2 HG01109.hp1
NA18975.hp1
HG01109.hp1
NA18975.hp1
 intron_variant MODIFIER c.2356-791_2356-790i
others(24): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAAGGAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296819
chr1:39296823 G
G
 A
A
 72 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(69): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0022c0072t0001g0209
a0023c0074t0001g0206
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0042c0052t0001g0201
a0053c0077t0001g0020
 72 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(69): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp1
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2356-797G>A
c.2356-797G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296823
chr1:39296823 G
G
 GAAGGAAA
others(11): Show 
GAAGGAAAAGAAAGAAAGA
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.2356-791_2356-790i
others(20): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296823
chr1:39296827 G
G
 A
A
 66 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(63): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0022c0072t0001g0209
a0023c0074t0001g0206
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0042c0052t0001g0201
a0053c0077t0001g0020
 66 HG00438.hp2
HG00639.hp2
HG00642.hp1
others(63): Show 
HG00438.hp2
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp2
NA19002.hp2
NA19043.hp1
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.2356-793G>A
c.2356-793G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296827
chr1:39296827 G
G
 GAAAAGAA
others(3): Show 
GAAAAGAAAGA
 1 a0001c0031t0001g0106
a0001c0031t0001g0106
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.2356-791_2356-790i
others(12): Show 
c.2356-791_2356-790insAAGAAAGAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296827
chr1:39296827 G
G
 GAAAAGAA
others(7): Show 
GAAAAGAAAGAAAGA
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2356-791_2356-790i
others(16): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296827
chr1:39296827 G
G
 GAAAAGAA
others(11): Show 
GAAAAGAAAGAAAGAAAGA
 1 a0008c0010t0003g0213
a0008c0010t0003g0213
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.2356-791_2356-790i
others(20): Show 
c.2356-791_2356-790insAAGAAAGAAAGAAAGAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296827
chr1:39296827 G
G
 GAAGGAAA
others(15): Show 
GAAGGAAAAGAAAGAAAGAAAGA
 3 a0008c0010t0001g0208
a0008c0010t0003g0219
a0024c0076t0003g0222
a0008c0010t0001g0208
a0008c0010t0003g0219
a0024c0076t0003g0222
 3 HG03516.hp1
NA19043.hp2
NA21309.hp1
HG03516.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.2356-787_2356-786i
others(24): Show 
c.2356-787_2356-786insAAGAAAGAAAGAAAGAAAGGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296827
chr1:39296831 G
G
 A
A
 9 a0001c0031t0001g0106
a0001c0062t0001g0006
a0013c0023t0001g0003
others(6): Show 
a0001c0031t0001g0106
a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0040c0051t0001g0205
 9 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(6): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA18983.hp2
NA19010.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.2356-789G>A
c.2356-789G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296831
chr1:39296836 AAGGAAGG
others(5): Show 
AAGGAAGGAAAAG
 A
A
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.2356-782_2356-771d
others(14): Show 
c.2356-782_2356-771delGGAAGGAAAAGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 INFO_REALIGN_3_PRIME chr1 39296836
chr1:39296846 A
A
 G
G
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2356-774A>G
c.2356-774A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296846
chr1:39296847 A
A
 G
G
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2356-773A>G
c.2356-773A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296847
chr1:39296848 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2356-772G>A
c.2356-772G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296848
chr1:39296927 C
C
 T
T
 1 a0002c0004t0001g0010
a0002c0004t0001g0010
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.2356-693C>T
c.2356-693C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296927
chr1:39296962 C
C
 T
T
 2 a0003c0002t0001g0115
a0003c0002t0001g0147
a0003c0002t0001g0115
a0003c0002t0001g0147
 2 HG02738.hp1
HG03540.hp2
HG02738.hp1
HG03540.hp2
 intron_variant MODIFIER c.2356-658C>T
c.2356-658C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39296962
chr1:39297050 A
A
 G
G
 8 a0005c0008t0005g0162
a0006c0005t0001g0235
a0006c0005t0001g0236
others(5): Show 
a0005c0008t0005g0162
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0244
a0030c0060t0001g0241
 8 HG02572.hp1
HG02922.hp1
HG02965.hp2
others(5): Show 
HG02572.hp1
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2356-570A>G
c.2356-570A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39297050
chr1:39297217 C
C
 T
T
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2356-403C>T
c.2356-403C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39297217
chr1:39297416 G
G
 T
T
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.2356-204G>T
c.2356-204G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39297416
chr1:39297570 G
G
 A
A
 90 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0020c0075t0001g0211
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 90 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2356-50G>A
c.2356-50G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 20/100 chr1 39297570
chr1:39297801 A
A
 G
G
 1 a0023c0074t0001g0206
a0023c0074t0001g0206
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.2481+56A>G
c.2481+56A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39297801
chr1:39297879 G
G
 T
T
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.2481+134G>T
c.2481+134G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39297879
chr1:39298008 C
C
 G
G
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2481+263C>G
c.2481+263C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39298008
chr1:39298079 G
G
 C
C
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2481+334G>C
c.2481+334G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39298079
chr1:39298134 C
C
 CA
CA
 18 a0001c0001t0001g0018
a0001c0001t0001g0031
a0001c0001t0001g0053
others(15): Show 
a0001c0001t0001g0018
a0001c0001t0001g0031
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0004t0001g0223
a0002c0039t0001g0073
a0003c0002t0001g0148
a0004c0006t0001g0074
a0032c0043t0001g0064
a0044c0032t0001g0102
 18 HG00140.hp1
HG00140.hp2
HG00741.hp2
others(15): Show 
HG00140.hp1
HG00140.hp2
HG00741.hp2
HG01261.hp2
HG02015.hp2
HG02040.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp1
HG03486.hp2
HG03704.hp2
HG03927.hp1
NA18943.hp1
NA18975.hp2
NA18980.hp1
NA18986.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.2481+399dupA
c.2481+399dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 INFO_REALIGN_3_PRIME chr1 39298134
chr1:39298345 A
A
 G
G
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.2481+600A>G
c.2481+600A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39298345
chr1:39298361 A
A
 G
G
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.2481+616A>G
c.2481+616A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39298361
chr1:39298605 T
T
 C
C
 1 a0001c0012t0001g0059
a0001c0012t0001g0059
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.2481+860T>C
c.2481+860T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39298605
chr1:39298769 A
A
 T
T
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.2481+1024A>T
c.2481+1024A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39298769
chr1:39298895 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2481+1150C>T
c.2481+1150C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39298895
chr1:39299145 C
C
 A
A
 1 a0004c0035t0001g0063
a0004c0035t0001g0063
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.2482-1065C>A
c.2482-1065C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39299145
chr1:39299739 T
T
 C
C
 1 a0017c0020t0001g0085
a0017c0020t0001g0085
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.2482-471T>C
c.2482-471T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39299739
chr1:39300096 A
A
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.2482-114A>T
c.2482-114A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 21/100 chr1 39300096
chr1:39300369 A
A
 G
G
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 splice_region_variant&intron_variant LOW c.2634+7A>G
c.2634+7A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300369
chr1:39300383 C
C
 T
T
 94 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(91): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 94 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(91): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2634+21C>T
c.2634+21C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300383
chr1:39300397 G
G
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.2634+35G>C
c.2634+35G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300397
chr1:39300466 TA
TA
 T
T
 73 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(70): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 73 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(70): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.2634+108delA
c.2634+108delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39300466
chr1:39300507 T
T
 TA
TA
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2634+156dupA
c.2634+156dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39300507
chr1:39300560 T
T
 G
G
 1 a0011c0013t0001g0078
a0011c0013t0001g0078
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.2634+198T>G
c.2634+198T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300560
chr1:39300664 C
C
 T
T
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.2634+302C>T
c.2634+302C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300664
chr1:39300720 G
G
 A
A
 1 a0032c0043t0001g0064
a0032c0043t0001g0064
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.2634+358G>A
c.2634+358G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300720
chr1:39300731 A
A
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2634+369A>G
c.2634+369A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300731
chr1:39300805 G
G
 A
A
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.2634+443G>A
c.2634+443G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300805
chr1:39300945 C
C
 A
A
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(21): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.2634+583C>A
c.2634+583C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300945
chr1:39300977 G
G
 A
A
 89 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 89 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2634+615G>A
c.2634+615G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39300977
chr1:39301022 AT
AT
 A
A
 7 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0040
others(4): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0094
a0001c0001t0001g0096
 7 HG01346.hp1
HG01361.hp1
HG01952.hp2
others(4): Show 
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02273.hp1
NA18986.hp2
NA19002.hp1
 intron_variant MODIFIER c.2634+661delT
c.2634+661delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301022
chr1:39301036 T
T
 G
G
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.2634+674T>G
c.2634+674T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301036
chr1:39301108 T
T
 G
G
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2634+746T>G
c.2634+746T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301108
chr1:39301121 T
T
 TTTTA
TTTTA
 3 a0001c0001t0001g0071
a0001c0037t0001g0095
a0040c0051t0001g0205
a0001c0001t0001g0071
a0001c0037t0001g0095
a0040c0051t0001g0205
 3 HG02615.hp2
HG02723.hp2
NA19010.hp1
HG02615.hp2
HG02723.hp2
NA19010.hp1
 intron_variant MODIFIER c.2634+779_2634+782d
others(6): Show 
c.2634+779_2634+782dupATTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39301121
chr1:39301158 G
G
 A
A
 32 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(29): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 32 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(29): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.2634+796G>A
c.2634+796G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301158
chr1:39301259 G
G
 A
A
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.2634+897G>A
c.2634+897G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301259
chr1:39301416 G
G
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.2634+1054G>A
c.2634+1054G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301416
chr1:39301449 G
G
 A
A
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.2634+1087G>A
c.2634+1087G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301449
chr1:39301521 G
G
 A
A
 7 a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
others(4): Show 
a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 7 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(4): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.2634+1159G>A
c.2634+1159G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301521
chr1:39301521 G
G
 T
T
 2 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0001t0001g0061
a0001c0001t0001g0098
 2 HG03041.hp2
HG03130.hp1
HG03041.hp2
HG03130.hp1
 intron_variant MODIFIER c.2634+1159G>T
c.2634+1159G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301521
chr1:39301585 C
C
 G
G
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2634+1223C>G
c.2634+1223C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301585
chr1:39301595 T
T
 G
G
 23 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(20): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 23 HG00639.hp2
HG00642.hp1
HG01884.hp1
others(20): Show 
HG00639.hp2
HG00642.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2634+1233T>G
c.2634+1233T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39301595
chr1:39301981 C
C
 CTATT
CTATT
 7 a0001c0001t0001g0015
a0002c0004t0001g0009
a0002c0004t0001g0010
others(4): Show 
a0001c0001t0001g0015
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0002t0001g0110
a0003c0002t0001g0111
 7 HG00642.hp2
HG00735.hp2
HG02486.hp1
others(4): Show 
HG00642.hp2
HG00735.hp2
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG04204.hp2
NA20129.hp1
 intron_variant MODIFIER c.2635-919_2635-916d
others(6): Show 
c.2635-919_2635-916dupTTAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39301981
chr1:39301981 C
C
 CTATTTAT
others(1): Show 
CTATTTATT
 3 a0003c0002t0001g0108
a0003c0002t0001g0109
a0040c0051t0001g0205
a0003c0002t0001g0108
a0003c0002t0001g0109
a0040c0051t0001g0205
 3 HG02602.hp1
HG03927.hp2
NA19010.hp1
HG02602.hp1
HG03927.hp2
NA19010.hp1
 intron_variant MODIFIER c.2635-923_2635-916d
others(10): Show 
c.2635-923_2635-916dupTTATTTAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39301981
chr1:39301981 C
C
 CTATTTAT
others(5): Show 
CTATTTATTTATT
 3 a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
 3 HG02976.hp2
HG03516.hp2
NA20300.hp2
HG02976.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.2635-927_2635-916d
others(14): Show 
c.2635-927_2635-916dupTTATTTATTTAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39301981
chr1:39301981 C
C
 CTATTTAT
others(9): Show 
CTATTTATTTATTTATT
 7 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(4): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0244
a0030c0060t0001g0241
 7 HG01106.hp1
HG02572.hp1
HG02647.hp2
others(4): Show 
HG01106.hp1
HG02572.hp1
HG02647.hp2
HG02922.hp1
HG03239.hp2
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.2635-931_2635-916d
others(18): Show 
c.2635-931_2635-916dupTTATTTATTTATTTAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39301981
chr1:39301981 C
C
 CTATTTAT
others(13): Show 
CTATTTATTTATTTATTTATT
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.2635-935_2635-916d
others(22): Show 
c.2635-935_2635-916dupTTATTTATTTATTTATTTAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39301981
chr1:39302271 T
T
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2635-653T>C
c.2635-653T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 chr1 39302271
chr1:39302388 GA
GA
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2635-528delA
c.2635-528delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 22/100 INFO_REALIGN_3_PRIME chr1 39302388
chr1:39303262 C
C
 T
T
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.2789+184C>T
c.2789+184C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303262
chr1:39303264 T
T
 C
C
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2789+186T>C
c.2789+186T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303264
chr1:39303328 T
T
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2789+250T>C
c.2789+250T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303328
chr1:39303368 T
T
 C
C
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.2789+290T>C
c.2789+290T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303368
chr1:39303552 C
C
 CA
CA
 44 a0001c0001t0001g0104
a0002c0003t0002g0127
a0003c0002t0001g0114
others(41): Show 
a0001c0001t0001g0104
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 44 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(41): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18974.hp1
NA18975.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2789+486dupA
c.2789+486dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39303552
chr1:39303552 C
C
 CAA
CAA
 5 a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
others(2): Show 
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0018c0027t0001g0157
a0018c0027t0001g0158
 5 NA18954.hp2
NA18973.hp2
NA18980.hp2
others(2): Show 
NA18954.hp2
NA18973.hp2
NA18980.hp2
NA19000.hp2
NA19085.hp2
 intron_variant MODIFIER c.2789+485_2789+486d
others(4): Show 
c.2789+485_2789+486dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39303552
chr1:39303654 C
C
 T
T
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.2789+576C>T
c.2789+576C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303654
chr1:39303670 G
G
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2789+592G>A
c.2789+592G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303670
chr1:39303697 C
C
 CA
CA
 30 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(27): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0147
a0004c0011t0003g0167
a0008c0010t0003g0219
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 30 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(27): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02738.hp1
HG03491.hp2
HG03516.hp1
HG03704.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.2789+636dupA
c.2789+636dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39303697
chr1:39303697 CA
CA
 C
C
 29 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(26): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 29 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(26): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA20129.hp1
 intron_variant MODIFIER c.2789+636delA
c.2789+636delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39303697
chr1:39303720 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.2789+642C>T
c.2789+642C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303720
chr1:39303856 G
G
 A
A
 1 a0035c0055t0002g0179
a0035c0055t0002g0179
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.2789+778G>A
c.2789+778G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303856
chr1:39303891 G
G
 T
T
 1 a0053c0077t0001g0020
a0053c0077t0001g0020
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.2789+813G>T
c.2789+813G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39303891
chr1:39304555 T
T
 C
C
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2789+1477T>C
c.2789+1477T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39304555
chr1:39304606 C
C
 T
T
 52 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2789+1528C>T
c.2789+1528C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39304606
chr1:39304654 C
C
 G
G
 2 a0001c0001t0001g0030
a0001c0001t0001g0099
a0001c0001t0001g0030
a0001c0001t0001g0099
 2 HG00735.hp1
HG03491.hp1
HG00735.hp1
HG03491.hp1
 intron_variant MODIFIER c.2789+1576C>G
c.2789+1576C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39304654
chr1:39304961 T
T
 G
G
 3 a0001c0001t0001g0048
a0001c0001t0001g0070
a0002c0039t0001g0073
a0001c0001t0001g0048
a0001c0001t0001g0070
a0002c0039t0001g0073
 3 HG01081.hp2
HG01981.hp1
NA20805.hp1
HG01081.hp2
HG01981.hp1
NA20805.hp1
 intron_variant MODIFIER c.2789+1883T>G
c.2789+1883T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39304961
chr1:39305058 C
C
 G
G
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2789+1980C>G
c.2789+1980C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39305058
chr1:39305277 A
A
 AGT
AGT
 49 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(46): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 49 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(46): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.2789+2210_2789+221
others(6): Show 
c.2789+2210_2789+2211dupGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39305277
chr1:39305288 G
G
 GTGTATAT
others(3): Show 
GTGTATATATA
 1 a0003c0002t0001g0161
a0003c0002t0001g0161
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.2789+2211_2789+221
others(14): Show 
c.2789+2211_2789+2212insGTATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39305288
chr1:39305290 A
A
 G
G
 1 a0003c0002t0001g0161
a0003c0002t0001g0161
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.2789+2212A>G
c.2789+2212A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39305290
chr1:39305897 C
C
 A
A
 8 a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
others(5): Show 
a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 8 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(5): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.2789+2819C>A
c.2789+2819C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39305897
chr1:39305913 C
C
 T
T
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.2789+2835C>T
c.2789+2835C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39305913
chr1:39305989 A
A
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2789+2911A>C
c.2789+2911A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39305989
chr1:39306026 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.2789+2948C>T
c.2789+2948C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306026
chr1:39306151 T
T
 G
G
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2789+3073T>G
c.2789+3073T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306151
chr1:39306161 T
T
 G
G
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2789+3083T>G
c.2789+3083T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306161
chr1:39306196 G
G
 A
A
 1 a0002c0003t0001g0186
a0002c0003t0001g0186
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.2789+3118G>A
c.2789+3118G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306196
chr1:39306285 G
G
 A
A
 2 a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0110
a0003c0002t0001g0111
 2 HG00642.hp2
HG00735.hp2
HG00642.hp2
HG00735.hp2
 intron_variant MODIFIER c.2789+3207G>A
c.2789+3207G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306285
chr1:39306397 G
G
 A
A
 1 a0005c0009t0003g0214
a0005c0009t0003g0214
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.2790-3173G>A
c.2790-3173G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306397
chr1:39306398 G
G
 T
T
 89 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 89 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-3172G>T
c.2790-3172G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306398
chr1:39306508 T
T
 C
C
 193 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(190): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 193 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(190): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-3062T>C
c.2790-3062T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306508
chr1:39306610 C
C
 CT
CT
 7 a0002c0003t0002g0113
a0005c0008t0001g0207
a0005c0008t0001g0210
others(4): Show 
a0002c0003t0002g0113
a0005c0008t0001g0207
a0005c0008t0001g0210
a0009c0014t0010g0225
a0016c0026t0001g0173
a0020c0075t0001g0211
a0022c0072t0001g0209
 7 HG00642.hp1
HG02040.hp2
HG02615.hp1
others(4): Show 
HG00642.hp1
HG02040.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG03041.hp1
NA19080.hp1
 intron_variant MODIFIER c.2790-2942dupT
c.2790-2942dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306610
chr1:39306610 CT
CT
 C
C
 160 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(157): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0038t0001g0084
a0005c0009t0003g0217
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0057
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 160 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(157): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp2
HG01243.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-2942delT
c.2790-2942delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306610
chr1:39306610 CTT
CTT
 C
C
 7 a0001c0001t0001g0026
a0001c0001t0001g0097
a0003c0002t0001g0148
others(4): Show 
a0001c0001t0001g0026
a0001c0001t0001g0097
a0003c0002t0001g0148
a0003c0002t0001g0152
a0003c0071t0001g0120
a0004c0035t0001g0063
a0014c0021t0001g0227
 7 HG01167.hp1
HG02273.hp2
HG02897.hp1
others(4): Show 
HG01167.hp1
HG02273.hp2
HG02897.hp1
NA18939.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
 intron_variant MODIFIER c.2790-2943_2790-294
others(6): Show 
c.2790-2943_2790-2942delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306610
chr1:39306628 T
T
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.2790-2942T>C
c.2790-2942T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306628
chr1:39306633 C
C
 T
T
 89 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(86): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 89 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-2937C>T
c.2790-2937C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306633
chr1:39306833 C
C
 T
T
 1 a0035c0055t0002g0179
a0035c0055t0002g0179
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.2790-2737C>T
c.2790-2737C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306833
chr1:39306860 A
A
 AATT
AATT
 32 a0001c0001t0001g0070
a0002c0003t0001g0186
a0002c0003t0001g0187
others(29): Show 
a0001c0001t0001g0070
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0135
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0086
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 32 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(29): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01081.hp2
HG01167.hp2
HG01346.hp2
HG01433.hp1
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03491.hp2
HG03540.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.2790-2679_2790-267
others(7): Show 
c.2790-2679_2790-2677dupATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306860
chr1:39306860 A
A
 AATTATT
AATTATT
 53 a0001c0040t0001g0014
a0003c0002t0001g0108
a0003c0002t0001g0109
others(50): Show 
a0001c0040t0001g0014
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0234
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0243
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0027c0063t0002g0229
a0030c0060t0001g0241
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 53 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(50): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01106.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02273.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02922.hp1
HG02976.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG03927.hp2
HG04115.hp1
NA18522.hp1
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19002.hp2
NA19011.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.2790-2682_2790-267
others(10): Show 
c.2790-2682_2790-2677dupATTATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306860
chr1:39306860 A
A
 AATTATTA
others(2): Show 
AATTATTATT
 7 a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0156
others(4): Show 
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0156
a0010c0016t0004g0145
a0014c0021t0001g0226
a0014c0021t0001g0227
a0048c0065t0001g0141
 7 HG01099.hp2
HG02135.hp2
HG02523.hp2
others(4): Show 
HG01099.hp2
HG02135.hp2
HG02523.hp2
HG02896.hp1
HG02897.hp1
NA18939.hp2
NA18975.hp2
 intron_variant MODIFIER c.2790-2685_2790-267
others(13): Show 
c.2790-2685_2790-2677dupATTATTATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306860
chr1:39306860 A
A
 AATTATTA
others(5): Show 
AATTATTATTATT
 4 a0002c0003t0002g0127
a0003c0002t0001g0159
a0003c0002t0001g0160
others(1): Show 
a0002c0003t0002g0127
a0003c0002t0001g0159
a0003c0002t0001g0160
a0006c0005t0001g0236
 4 HG04204.hp1
NA18980.hp2
NA19000.hp2
others(1): Show 
HG04204.hp1
NA18980.hp2
NA19000.hp2
NA19086.hp1
 intron_variant MODIFIER c.2790-2688_2790-267
others(16): Show 
c.2790-2688_2790-2677dupATTATTATTATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306860
chr1:39306860 A
A
 AATTATTA
others(11): Show 
AATTATTATTATTATTATT
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.2790-2694_2790-267
others(22): Show 
c.2790-2694_2790-2677dupATTATTATTATTATTATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306860
chr1:39306860 AATT
AATT
 A
A
 12 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(9): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0004c0006t0001g0075
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0046c0044t0001g0100
 12 HG02132.hp1
HG02155.hp1
HG02486.hp1
others(9): Show 
HG02132.hp1
HG02155.hp1
HG02486.hp1
HG02523.hp1
HG02886.hp2
HG02922.hp2
HG03239.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-2679_2790-267
others(7): Show 
c.2790-2679_2790-2677delATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39306860
chr1:39306949 A
A
 G
G
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2790-2621A>G
c.2790-2621A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39306949
chr1:39307118 G
G
 T
T
 2 a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0110
a0003c0002t0001g0111
 2 HG00642.hp2
HG00735.hp2
HG00642.hp2
HG00735.hp2
 intron_variant MODIFIER c.2790-2452G>T
c.2790-2452G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39307118
chr1:39307274 CT
CT
 C
C
 164 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(161): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0027c0063t0002g0229
a0030c0060t0001g0241
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 164 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(161): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-2283delT
c.2790-2283delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307274
chr1:39307274 CTT
CTT
 C
C
 8 a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
others(5): Show 
a0001c0062t0001g0006
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0031c0059t0002g0177
a0036c0048t0001g0008
 8 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(5): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA18969.hp1
NA19030.hp1
NA19030.hp2
NA20129.hp2
 intron_variant MODIFIER c.2790-2284_2790-228
others(6): Show 
c.2790-2284_2790-2283delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307274
chr1:39307673 G
G
 A
A
 2 a0019c0028t0001g0130
a0019c0028t0001g0132
a0019c0028t0001g0130
a0019c0028t0001g0132
 2 HG00639.hp1
HG02683.hp1
HG00639.hp1
HG02683.hp1
 intron_variant MODIFIER c.2790-1897G>A
c.2790-1897G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39307673
chr1:39307706 A
A
 G
G
 240 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(237): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 240 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(237): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-1864A>G
c.2790-1864A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39307706
chr1:39307771 G
G
 A
A
 225 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(222): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 225 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(222): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-1799G>A
c.2790-1799G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39307771
chr1:39307901 C
C
 CTT
CTT
 10 a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
others(7): Show 
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0049c0067t0001g0116
a0050c0069t0001g0123
 10 HG00741.hp1
HG01261.hp1
HG01361.hp2
others(7): Show 
HG00741.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG03490.hp1
NA18999.hp2
NA19091.hp1
 intron_variant MODIFIER c.2790-1649_2790-164
others(6): Show 
c.2790-1649_2790-1648dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTCTTT
others(13): Show 
CTTTCTTTCTTTTTTTTTTTT
 1 a0002c0004t0001g0012
a0002c0004t0001g0012
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.2790-1666_2790-166
others(24): Show 
c.2790-1666_2790-1665insCTTTCTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTCTTT
others(14): Show 
CTTTCTTTCTTTTTTTTTTTTT
 1 a0002c0004t0001g0011
a0002c0004t0001g0011
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.2790-1666_2790-166
others(25): Show 
c.2790-1666_2790-1665insCTTTCTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTCTTT
others(17): Show 
CTTTCTTTCTTTTTTTTTTTTTTTT
 2 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0009
a0002c0004t0001g0010
 2 HG02486.hp1
HG02886.hp2
HG02486.hp1
HG02886.hp2
 intron_variant MODIFIER c.2790-1666_2790-166
others(28): Show 
c.2790-1666_2790-1665insCTTTCTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTCTTT
others(39): Show 
CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0001g0187
a0002c0003t0001g0187
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.2790-1666_2790-166
others(50): Show 
c.2790-1666_2790-1665insCTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(1): Show 
CTTTTTTTT
 7 a0002c0004t0001g0193
a0003c0002t0001g0159
a0005c0008t0001g0207
others(4): Show 
a0002c0004t0001g0193
a0003c0002t0001g0159
a0005c0008t0001g0207
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0009c0047t0001g0189
 7 HG00642.hp1
HG01069.hp2
HG02896.hp2
others(4): Show 
HG00642.hp1
HG01069.hp2
HG02896.hp2
HG02965.hp2
NA18980.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.2790-1655_2790-164
others(12): Show 
c.2790-1655_2790-1648dupTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 41 a0002c0003t0002g0127
a0002c0004t0001g0195
a0002c0004t0001g0196
others(38): Show 
a0002c0003t0002g0127
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0223
a0002c0004t0011g0194
a0002c0025t0001g0001
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0148
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0033c0053t0001g0200
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
 41 HG00280.hp1
HG00558.hp2
HG00609.hp1
others(38): Show 
HG00280.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02257.hp1
HG02523.hp2
HG02647.hp1
HG02683.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18990.hp2
NA18995.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
 intron_variant MODIFIER c.2790-1656_2790-164
others(13): Show 
c.2790-1656_2790-1648dupTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 7 a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
others(4): Show 
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0003c0002t0001g0131
a0003c0002t0001g0139
a0003c0002t0001g0147
a0003c0002t0001g0160
 7 HG00544.hp1
HG00639.hp2
HG01884.hp1
others(4): Show 
HG00544.hp1
HG00639.hp2
HG01884.hp1
HG02738.hp1
HG02809.hp2
NA19000.hp2
NA19011.hp1
 intron_variant MODIFIER c.2790-1657_2790-164
others(14): Show 
c.2790-1657_2790-1648dupTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 4 a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0004t0001g0204
others(1): Show 
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0004t0001g0204
a0003c0002t0001g0146
 4 HG01099.hp2
HG02071.hp1
HG02165.hp2
others(1): Show 
HG01099.hp2
HG02071.hp1
HG02165.hp2
HG02717.hp1
 intron_variant MODIFIER c.2790-1658_2790-164
others(15): Show 
c.2790-1658_2790-1648dupTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(6): Show 
CTTTTTTTTTTTTT
 1 a0034c0056t0001g0176
a0034c0056t0001g0176
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.2790-1660_2790-164
others(17): Show 
c.2790-1660_2790-1648dupTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 3 a0002c0003t0002g0188
a0020c0075t0001g0211
a0022c0072t0001g0209
a0002c0003t0002g0188
a0020c0075t0001g0211
a0022c0072t0001g0209
 3 HG02615.hp1
HG02717.hp2
NA20805.hp2
HG02615.hp1
HG02717.hp2
NA20805.hp2
 intron_variant MODIFIER c.2790-1661_2790-164
others(18): Show 
c.2790-1661_2790-1648dupTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(8): Show 
CTTTTTTTTTTTTTTT
 1 a0005c0008t0001g0210
a0005c0008t0001g0210
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2790-1662_2790-164
others(19): Show 
c.2790-1662_2790-1648dupTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 1 a0035c0055t0002g0179
a0035c0055t0002g0179
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.2790-1663_2790-164
others(20): Show 
c.2790-1663_2790-1648dupTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(10): Show 
CTTTTTTTTTTTTTTTTT
 5 a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0015t0002g0112
others(2): Show 
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 5 HG00597.hp1
HG02132.hp2
NA18987.hp1
others(2): Show 
HG00597.hp1
HG02132.hp2
NA18987.hp1
NA19011.hp2
NA19080.hp1
 intron_variant MODIFIER c.2790-1664_2790-164
others(21): Show 
c.2790-1664_2790-1648dupTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(16): Show 
CTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0002g0231
a0002c0003t0002g0231
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.2790-1648_2790-164
others(27): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(23): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 2 a0002c0003t0002g0093
a0002c0003t0002g0185
a0002c0003t0002g0093
a0002c0003t0002g0185
 2 NA18962.hp2
NA18986.hp1
NA18962.hp2
NA18986.hp1
 intron_variant MODIFIER c.2790-1648_2790-164
others(34): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(24): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0002g0180
a0002c0003t0002g0180
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.2790-1648_2790-164
others(35): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(25): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0031c0059t0002g0177
a0031c0059t0002g0177
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.2790-1648_2790-164
others(36): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(27): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0002g0181
a0002c0003t0002g0181
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.2790-1648_2790-164
others(38): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(32): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0002g0184
a0002c0003t0002g0184
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.2790-1648_2790-164
others(43): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(33): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0001g0186
a0002c0003t0001g0186
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.2790-1648_2790-164
others(44): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(34): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0002g0182
a0002c0003t0002g0182
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.2790-1648_2790-164
others(45): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 CTTTTTTT
others(37): Show 
CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
 1 a0002c0003t0002g0183
a0002c0003t0002g0183
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.2790-1648_2790-164
others(48): Show 
c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT
TTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 C
C
 T
T
 1 a0027c0063t0002g0229
a0027c0063t0002g0229
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.2790-1669C>T
c.2790-1669C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39307901
chr1:39307901 CT
CT
 C
C
 103 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(100): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0244
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0004
a0014c0021t0001g0226
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0023c0074t0001g0206
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0046c0044t0001g0100
a0052c0046t0001g0068
 103 HG00140.hp1
HG00140.hp2
HG00438.hp1
others(100): Show 
HG00140.hp1
HG00140.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18973.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2790-1648delT
c.2790-1648delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39307901 CTT
CTT
 C
C
 11 a0001c0001t0001g0031
a0006c0005t0001g0237
a0006c0005t0001g0242
others(8): Show 
a0001c0001t0001g0031
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0007c0007t0001g0056
a0014c0021t0001g0227
a0025c0030t0001g0067
a0038c0054t0002g0178
a0040c0051t0001g0205
a0044c0032t0001g0102
a0051c0045t0012g0022
 11 HG01106.hp1
HG02015.hp2
HG02280.hp2
others(8): Show 
HG01106.hp1
HG02015.hp2
HG02280.hp2
HG02602.hp2
HG02897.hp1
HG03239.hp1
HG03239.hp2
NA18974.hp2
NA18981.hp1
NA18986.hp2
NA19010.hp1
 intron_variant MODIFIER c.2790-1649_2790-164
others(6): Show 
c.2790-1649_2790-1648delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39307901
chr1:39308081 T
T
 C
C
 1 a0003c0002t0001g0156
a0003c0002t0001g0156
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.2790-1489T>C
c.2790-1489T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308081
chr1:39308180 A
A
 G
G
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.2790-1390A>G
c.2790-1390A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308180
chr1:39308367 A
A
 G
G
 2 a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0183
a0002c0003t0002g0184
 2 NA19084.hp2
NA19088.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.2790-1203A>G
c.2790-1203A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308367
chr1:39308616 T
T
 C
C
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2790-954T>C
c.2790-954T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308616
chr1:39308667 T
T
 C
C
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.2790-903T>C
c.2790-903T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308667
chr1:39308758 C
C
 T
T
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.2790-812C>T
c.2790-812C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308758
chr1:39308846 G
G
 A
A
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2790-724G>A
c.2790-724G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308846
chr1:39308921 G
G
 T
T
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.2790-649G>T
c.2790-649G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39308921
chr1:39309078 G
G
 A
A
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.2790-492G>A
c.2790-492G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39309078
chr1:39309261 G
G
 GT
GT
 25 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(22): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
 25 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(22): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.2790-294dupT
c.2790-294dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 INFO_REALIGN_3_PRIME chr1 39309261
chr1:39309265 T
T
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.2790-305T>G
c.2790-305T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39309265
chr1:39309511 T
T
 G
G
 4 a0005c0008t0001g0207
a0005c0008t0001g0210
a0020c0075t0001g0211
others(1): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0020c0075t0001g0211
a0022c0072t0001g0209
 4 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(1): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
 intron_variant MODIFIER c.2790-59T>G
c.2790-59T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 23/100 chr1 39309511
chr1:39309870 A
A
 G
G
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.2916+174A>G
c.2916+174A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 24/100 chr1 39309870
chr1:39309889 A
A
 G
G
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.2916+193A>G
c.2916+193A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 24/100 chr1 39309889
chr1:39310093 C
C
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.2917-152C>G
c.2917-152C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 24/100 chr1 39310093
chr1:39310231 C
C
 G
G
 1 a0002c0004t0001g0204
a0002c0004t0001g0204
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.2917-14C>G
c.2917-14C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 24/100 chr1 39310231
chr1:39310596 T
T
 A
A
 1 a0019c0028t0001g0130
a0019c0028t0001g0130
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.3100+168T>A
c.3100+168T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 25/100 chr1 39310596
chr1:39311366 A
A
 G
G
 2 a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0025t0001g0001
a0002c0025t0001g0191
 2 HG02145.hp2
HG03471.hp2
HG02145.hp2
HG03471.hp2
 intron_variant MODIFIER c.3270+366A>G
c.3270+366A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39311366
chr1:39311487 G
G
 A
A
 50 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(47): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(47): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.3270+487G>A
c.3270+487G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39311487
chr1:39311576 C
C
 A
A
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.3270+576C>A
c.3270+576C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39311576
chr1:39311842 A
A
 G
G
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.3270+842A>G
c.3270+842A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39311842
chr1:39312588 G
G
 A
A
 1 a0015c0022t0001g0005
a0015c0022t0001g0005
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.3270+1588G>A
c.3270+1588G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39312588
chr1:39312588 G
G
 T
T
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.3270+1588G>T
c.3270+1588G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39312588
chr1:39312725 T
T
 C
C
 1 a0051c0045t0012g0022
a0051c0045t0012g0022
 1 NA18974.hp2
NA18974.hp2
 intron_variant MODIFIER c.3270+1725T>C
c.3270+1725T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39312725
chr1:39312788 A
A
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.3270+1788A>G
c.3270+1788A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39312788
chr1:39313555 C
C
 A
A
 2 a0004c0006t0001g0049
a0052c0046t0001g0068
a0004c0006t0001g0049
a0052c0046t0001g0068
 2 HG01069.hp1
HG02486.hp2
HG01069.hp1
HG02486.hp2
 intron_variant MODIFIER c.3271-1958C>A
c.3271-1958C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39313555
chr1:39313555 C
C
 CT
CT
 5 a0001c0001t0001g0041
a0003c0002t0001g0134
a0003c0002t0001g0147
others(2): Show 
a0001c0001t0001g0041
a0003c0002t0001g0134
a0003c0002t0001g0147
a0036c0048t0001g0008
a0051c0045t0012g0022
 5 HG01346.hp1
HG02738.hp1
NA18943.hp2
others(2): Show 
HG01346.hp1
HG02738.hp1
NA18943.hp2
NA18974.hp2
NA19030.hp1
 intron_variant MODIFIER c.3271-1949dupT
c.3271-1949dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39313555
chr1:39313938 T
T
 C
C
 7 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
others(4): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0039t0001g0073
 7 HG00140.hp2
HG00741.hp2
HG01261.hp2
others(4): Show 
HG00140.hp2
HG00741.hp2
HG01261.hp2
HG02615.hp2
HG02723.hp2
HG02886.hp1
NA20805.hp1
 intron_variant MODIFIER c.3271-1575T>C
c.3271-1575T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39313938
chr1:39313970 G
G
 A
A
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.3271-1543G>A
c.3271-1543G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39313970
chr1:39314003 G
G
 A
A
 1 a0006c0005t0001g0237
a0006c0005t0001g0237
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.3271-1510G>A
c.3271-1510G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314003
chr1:39314130 C
C
 T
T
 90 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 90 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3271-1383C>T
c.3271-1383C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314130
chr1:39314216 C
C
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.3271-1297C>G
c.3271-1297C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314216
chr1:39314312 A
A
 G
G
 231 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(228): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 231 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(228): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3271-1201A>G
c.3271-1201A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314312
chr1:39314494 G
G
 A
A
 1 a0002c0004t0001g0223
a0002c0004t0001g0223
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.3271-1019G>A
c.3271-1019G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314494
chr1:39314548 T
T
 C
C
 1 a0003c0002t0001g0151
a0003c0002t0001g0151
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.3271-965T>C
c.3271-965T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314548
chr1:39314548 TTC
TTC
 T
T
 9 a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
others(6): Show 
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0171
a0006c0005t0001g0244
a0009c0014t0009g0192
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
 9 HG00280.hp2
HG01069.hp2
HG02055.hp2
others(6): Show 
HG00280.hp2
HG01069.hp2
HG02055.hp2
HG02109.hp2
HG03579.hp1
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.3271-944_3271-943d
others(4): Show 
c.3271-944_3271-943delTC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314548
chr1:39314548 TTCTC
TTCTC
 T
T
 3 a0001c0001t0001g0051
a0009c0014t0001g0190
a0009c0014t0010g0225
a0001c0001t0001g0051
a0009c0014t0001g0190
a0009c0014t0010g0225
 3 HG03041.hp1
HG03130.hp2
NA19240.hp2
HG03041.hp1
HG03130.hp2
NA19240.hp2
 intron_variant MODIFIER c.3271-946_3271-943d
others(6): Show 
c.3271-946_3271-943delTCTC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314548
chr1:39314563 TCTCTCTC
others(3): Show 
TCTCTCTCACA
 T
T
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.3271-948_3271-939d
others(12): Show 
c.3271-948_3271-939delTCTCTCACAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314563
chr1:39314565 TCTCTCAC
others(1): Show 
TCTCTCACA
 T
T
 3 a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
 3 HG01106.hp1
HG02602.hp2
HG03239.hp2
HG01106.hp1
HG02602.hp2
HG03239.hp2
 intron_variant MODIFIER c.3271-946_3271-939d
others(10): Show 
c.3271-946_3271-939delTCTCACAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314565
chr1:39314567 T
T
 TCA
TCA
 3 a0003c0002t0001g0126
a0010c0064t0004g0133
a0045c0070t0001g0144
a0003c0002t0001g0126
a0010c0064t0004g0133
a0045c0070t0001g0144
 3 HG00609.hp1
HG00733.hp2
HG02074.hp2
HG00609.hp1
HG00733.hp2
HG02074.hp2
 intron_variant MODIFIER c.3271-945_3271-944i
others(4): Show 
c.3271-945_3271-944insAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314567
chr1:39314567 T
T
 TCACA
TCACA
 5 a0003c0002t0001g0128
a0003c0002t0001g0143
a0003c0002t0001g0146
others(2): Show 
a0003c0002t0001g0128
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0150
a0003c0066t0001g0117
 5 HG01099.hp2
HG01361.hp2
HG02129.hp1
others(2): Show 
HG01099.hp2
HG01361.hp2
HG02129.hp1
NA18942.hp1
NA19088.hp1
 intron_variant MODIFIER c.3271-945_3271-944i
others(6): Show 
c.3271-945_3271-944insACAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314567
chr1:39314567 T
T
 TCACACA
TCACACA
 29 a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
others(26): Show 
a0002c0003t0002g0127
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0142
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0145
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0132
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 29 HG00280.hp1
HG01261.hp1
HG01433.hp2
others(26): Show 
HG00280.hp1
HG01261.hp1
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19091.hp1
 intron_variant MODIFIER c.3271-945_3271-944i
others(8): Show 
c.3271-945_3271-944insACACAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314567
chr1:39314567 T
T
 TCACACAC
others(1): Show 
TCACACACA
 7 a0003c0002t0001g0122
a0003c0002t0001g0139
a0003c0002t0001g0152
others(4): Show 
a0003c0002t0001g0122
a0003c0002t0001g0139
a0003c0002t0001g0152
a0003c0002t0001g0154
a0010c0016t0004g0140
a0019c0028t0001g0130
a0048c0065t0001g0141
 7 HG00544.hp1
HG00558.hp2
HG00639.hp1
others(4): Show 
HG00544.hp1
HG00558.hp2
HG00639.hp1
HG00741.hp1
HG02135.hp2
HG02809.hp1
NA18974.hp1
 intron_variant MODIFIER c.3271-945_3271-944i
others(10): Show 
c.3271-945_3271-944insACACACAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314567
chr1:39314567 TCTCA
TCTCA
 T
T
 20 a0001c0001t0001g0030
a0001c0001t0001g0080
a0001c0001t0001g0099
others(17): Show 
a0001c0001t0001g0030
a0001c0001t0001g0080
a0001c0001t0001g0099
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0002g0057
a0014c0021t0001g0226
a0014c0021t0001g0227
a0023c0074t0001g0206
a0025c0030t0001g0067
a0043c0057t0001g0168
a0052c0046t0001g0068
 20 HG00140.hp1
HG00735.hp1
HG01069.hp1
others(17): Show 
HG00140.hp1
HG00735.hp1
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01884.hp2
HG02155.hp1
HG02280.hp2
HG02486.hp2
HG02683.hp2
HG02896.hp1
HG02897.hp1
HG03209.hp1
HG03490.hp2
HG03491.hp1
HG03927.hp1
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3271-944_3271-941d
others(6): Show 
c.3271-944_3271-941delTCAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314567
chr1:39314567 TCTCACA
TCTCACA
 T
T
 73 a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
others(70): Show 
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0030c0060t0001g0241
a0032c0043t0001g0064
a0039c0042t0001g0021
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
 73 HG00140.hp2
HG00438.hp1
HG00544.hp2
others(70): Show 
HG00140.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00741.hp2
HG01081.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02257.hp2
HG02273.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp2
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03239.hp1
HG03486.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.3271-944_3271-939d
others(8): Show 
c.3271-944_3271-939delTCACAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314567
chr1:39314569 T
T
 A
A
 55 a0001c0036t0002g0035
a0002c0003t0002g0127
a0002c0004t0001g0009
others(52): Show 
a0001c0036t0002g0035
a0002c0003t0002g0127
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0170
a0009c0014t0009g0192
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0040c0051t0001g0205
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 55 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(52): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01069.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp2
HG02922.hp2
HG03490.hp1
HG03540.hp2
HG03579.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp2
NA19010.hp1
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.3271-944T>A
c.3271-944T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314569
chr1:39314569 T
T
 TCA
TCA
 7 a0002c0004t0001g0204
a0002c0025t0001g0001
a0002c0025t0001g0191
others(4): Show 
a0002c0004t0001g0204
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0008c0010t0003g0219
 7 HG02145.hp2
HG02717.hp1
HG02965.hp2
others(4): Show 
HG02145.hp2
HG02717.hp1
HG02965.hp2
HG03471.hp2
HG03516.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.3271-905_3271-904d
others(4): Show 
c.3271-905_3271-904dupCA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314569
chr1:39314569 T
T
 TCACA
TCACA
 10 a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0199
others(7): Show 
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0033c0053t0001g0200
 10 HG00639.hp2
HG01884.hp1
HG02647.hp1
others(7): Show 
HG00639.hp2
HG01884.hp1
HG02647.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.3271-907_3271-904d
others(6): Show 
c.3271-907_3271-904dupCACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314569
chr1:39314569 T
T
 TCTCA
TCTCA
 5 a0002c0004t0001g0197
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0002c0004t0001g0197
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG02615.hp1
HG02717.hp2
HG02723.hp1
others(2): Show 
HG02615.hp1
HG02717.hp2
HG02723.hp1
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.3271-943_3271-942i
others(6): Show 
c.3271-943_3271-942insTCAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314569
chr1:39314569 T
T
 TCTCACA
TCTCACA
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.3271-943_3271-942i
others(8): Show 
c.3271-943_3271-942insTCACAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314569
chr1:39314569 TCA
TCA
 T
T
 6 a0002c0003t0002g0044
a0016c0026t0001g0173
a0027c0063t0002g0229
others(3): Show 
a0002c0003t0002g0044
a0016c0026t0001g0173
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0042c0052t0001g0201
 6 HG00597.hp1
HG02040.hp2
HG02257.hp1
others(3): Show 
HG00597.hp1
HG02040.hp2
HG02257.hp1
HG02965.hp1
HG03195.hp2
NA19002.hp2
 intron_variant MODIFIER c.3271-905_3271-904d
others(4): Show 
c.3271-905_3271-904delCA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314569
chr1:39314569 TCACA
TCACA
 T
T
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0172
a0002c0015t0002g0175
a0006c0005t0001g0236
a0016c0026t0001g0174
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
HG04204.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp2
NA19011.hp2
NA19030.hp1
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.3271-907_3271-904d
others(6): Show 
c.3271-907_3271-904delCACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314569
chr1:39314569 TCACACA
TCACACA
 T
T
 6 a0001c0012t0001g0059
a0013c0023t0001g0003
a0013c0023t0001g0004
others(3): Show 
a0001c0012t0001g0059
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
 6 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(3): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA18954.hp1
NA20129.hp2
 intron_variant MODIFIER c.3271-909_3271-904d
others(8): Show 
c.3271-909_3271-904delCACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 INFO_REALIGN_3_PRIME chr1 39314569
chr1:39314571 A
A
 T
T
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.3271-942A>T
c.3271-942A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314571
chr1:39314575 A
A
 T
T
 2 a0002c0003t0002g0188
a0036c0048t0001g0008
a0002c0003t0002g0188
a0036c0048t0001g0008
 2 NA19030.hp1
NA20805.hp2
NA19030.hp1
NA20805.hp2
 intron_variant MODIFIER c.3271-938A>T
c.3271-938A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314575
chr1:39314630 C
C
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.3271-883C>G
c.3271-883C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39314630
chr1:39315101 C
C
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.3271-412C>G
c.3271-412C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39315101
chr1:39315130 C
C
 T
T
 232 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(229): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 232 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(229): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3271-383C>T
c.3271-383C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 26/100 chr1 39315130
chr1:39316114 A
A
 G
G
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.3450-277A>G
c.3450-277A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 27/100 chr1 39316114
chr1:39316182 A
A
 G
G
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.3450-209A>G
c.3450-209A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 27/100 chr1 39316182
chr1:39316386 C
C
 G
G
 1 a0001c0034t0001g0090
a0001c0034t0001g0090
 1 HG03195.hp1
HG03195.hp1
 splice_region_variant&intron_variant LOW c.3450-5C>G
c.3450-5C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 27/100 chr1 39316386
chr1:39316647 G
G
 C
C
 1 a0002c0004t0001g0195
a0002c0004t0001g0195
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3588+118G>C
c.3588+118G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 28/100 chr1 39316647
chr1:39316696 G
G
 C
C
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.3588+167G>C
c.3588+167G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 28/100 chr1 39316696
chr1:39316736 T
T
 A
A
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.3588+207T>A
c.3588+207T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 28/100 chr1 39316736
chr1:39316996 A
A
 G
G
 2 a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0053
a0001c0001t0001g0065
 2 HG00140.hp2
HG00741.hp2
HG00140.hp2
HG00741.hp2
 intron_variant MODIFIER c.3589-218A>G
c.3589-218A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 28/100 chr1 39316996
chr1:39317433 C
C
 T
T
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 6 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(3): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.3782+26C>T
c.3782+26C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39317433
chr1:39317445 C
C
 A
A
 1 a0001c0001t0002g0034
a0001c0001t0002g0034
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.3782+38C>A
c.3782+38C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39317445
chr1:39317492 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.3782+85A>G
c.3782+85A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39317492
chr1:39317495 T
T
 C
C
 1 a0002c0004t0001g0195
a0002c0004t0001g0195
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.3782+88T>C
c.3782+88T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39317495
chr1:39317551 C
C
 T
T
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.3782+144C>T
c.3782+144C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39317551
chr1:39317711 T
T
 C
C
 2 a0002c0004t0001g0199
a0033c0053t0001g0200
a0002c0004t0001g0199
a0033c0053t0001g0200
 2 HG02818.hp1
HG03540.hp1
HG02818.hp1
HG03540.hp1
 intron_variant MODIFIER c.3782+304T>C
c.3782+304T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39317711
chr1:39317785 C
C
 T
T
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 HG01081.hp2
HG01981.hp1
HG01081.hp2
HG01981.hp1
 intron_variant MODIFIER c.3782+378C>T
c.3782+378C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39317785
chr1:39318078 T
T
 C
C
 2 a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0180
a0002c0003t0002g0181
 2 HG01167.hp2
HG01346.hp2
HG01167.hp2
HG01346.hp2
 intron_variant MODIFIER c.3783-375T>C
c.3783-375T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39318078
chr1:39318394 A
A
 C
C
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.3783-59A>C
c.3783-59A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 29/100 chr1 39318394
chr1:39318686 G
G
 A
A
 29 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(26): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 29 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(26): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.3945+71G>A
c.3945+71G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 30/100 chr1 39318686
chr1:39318723 C
C
 T
T
 1 a0038c0054t0002g0178
a0038c0054t0002g0178
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.3945+108C>T
c.3945+108C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 30/100 chr1 39318723
chr1:39318986 AT
AT
 A
A
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.3945+375delT
c.3945+375delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 30/100 INFO_REALIGN_3_PRIME chr1 39318986
chr1:39318995 A
A
 AT
AT
 5 a0001c0001t0001g0024
a0013c0023t0001g0003
a0013c0023t0001g0004
others(2): Show 
a0001c0001t0001g0024
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0037c0058t0001g0245
 5 HG01243.hp2
HG02109.hp1
HG03453.hp2
others(2): Show 
HG01243.hp2
HG02109.hp1
HG03453.hp2
NA18981.hp2
NA20129.hp2
 intron_variant MODIFIER c.3945+390dupT
c.3945+390dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 30/100 INFO_REALIGN_3_PRIME chr1 39318995
chr1:39319005 T
T
 G
G
 1 a0007c0007t0002g0057
a0007c0007t0002g0057
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.3945+390T>G
c.3945+390T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 30/100 chr1 39319005
chr1:39319058 G
G
 A
A
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.3945+443G>A
c.3945+443G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 30/100 chr1 39319058
chr1:39319216 G
G
 C
C
 47 a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
others(44): Show 
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 47 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(44): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.3946-448G>C
c.3946-448G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 30/100 chr1 39319216
chr1:39319752 C
C
 A
A
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 splice_region_variant&intron_variant LOW c.4029+5C>A
c.4029+5C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39319752
chr1:39319969 G
G
 A
A
 158 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(155): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 158 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(155): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4029+222G>A
c.4029+222G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39319969
chr1:39320301 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.4029+554A>G
c.4029+554A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39320301
chr1:39320410 A
A
 G
G
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.4029+663A>G
c.4029+663A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39320410
chr1:39320802 T
T
 TA
TA
 46 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(43): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0043c0057t0001g0168
 46 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(43): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01346.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03491.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.4029+1066dupA
c.4029+1066dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 INFO_REALIGN_3_PRIME chr1 39320802
chr1:39320905 G
G
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.4029+1158G>A
c.4029+1158G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39320905
chr1:39321246 A
A
 C
C
 226 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(223): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 226 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(223): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4030-1362A>C
c.4030-1362A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39321246
chr1:39321459 C
C
 G
G
 1 a0003c0002t0001g0139
a0003c0002t0001g0139
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.4030-1149C>G
c.4030-1149C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39321459
chr1:39321461 G
G
 A
A
 198 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(195): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0033c0053t0001g0200
a0036c0048t0001g0008
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 198 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(195): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4030-1147G>A
c.4030-1147G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39321461
chr1:39321634 A
A
 C
C
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.4030-974A>C
c.4030-974A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39321634
chr1:39321685 T
T
 C
C
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.4030-923T>C
c.4030-923T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39321685
chr1:39321983 G
G
 C
C
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.4030-625G>C
c.4030-625G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39321983
chr1:39322061 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.4030-547G>A
c.4030-547G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39322061
chr1:39322221 C
C
 T
T
 1 a0003c0002t0001g0121
a0003c0002t0001g0121
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.4030-387C>T
c.4030-387C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39322221
chr1:39322235 G
G
 T
T
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.4030-373G>T
c.4030-373G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39322235
chr1:39322296 A
A
 C
C
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.4030-312A>C
c.4030-312A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39322296
chr1:39322522 C
C
 T
T
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.4030-86C>T
c.4030-86C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 31/100 chr1 39322522
chr1:39322780 C
C
 T
T
 1 a0025c0030t0001g0067
a0025c0030t0001g0067
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.4137+65C>T
c.4137+65C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 32/100 chr1 39322780
chr1:39322820 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.4138-90G>A
c.4138-90G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 32/100 chr1 39322820
chr1:39322879 G
G
 A
A
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.4138-31G>A
c.4138-31G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 32/100 chr1 39322879
chr1:39323047 G
G
 C
C
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.4236+39G>C
c.4236+39G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323047
chr1:39323089 C
C
 G
G
 13 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(10): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.4236+81C>G
c.4236+81C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323089
chr1:39323189 A
A
 G
G
 3 a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
 3 NA18953.hp2
NA18983.hp1
NA18988.hp2
NA18953.hp2
NA18983.hp1
NA18988.hp2
 intron_variant MODIFIER c.4236+181A>G
c.4236+181A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323189
chr1:39323290 A
A
 G
G
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.4236+282A>G
c.4236+282A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323290
chr1:39323407 T
T
 A
A
 2 a0001c0001t0001g0061
a0001c0001t0001g0098
a0001c0001t0001g0061
a0001c0001t0001g0098
 2 HG03041.hp2
HG03130.hp1
HG03041.hp2
HG03130.hp1
 intron_variant MODIFIER c.4236+399T>A
c.4236+399T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323407
chr1:39323668 T
T
 C
C
 1 a0006c0005t0001g0238
a0006c0005t0001g0238
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.4237-525T>C
c.4237-525T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323668
chr1:39323701 A
A
 G
G
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 4 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(1): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.4237-492A>G
c.4237-492A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323701
chr1:39323737 A
A
 T
T
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.4237-456A>T
c.4237-456A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323737
chr1:39323986 T
T
 G
G
 1 a0001c0012t0001g0059
a0001c0012t0001g0059
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.4237-207T>G
c.4237-207T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 33/100 chr1 39323986
chr1:39324833 C
C
 T
T
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.4478+99C>T
c.4478+99C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39324833
chr1:39325001 C
C
 T
T
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.4478+267C>T
c.4478+267C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39325001
chr1:39325051 A
A
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.4478+317A>T
c.4478+317A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39325051
chr1:39325564 C
C
 T
T
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.4478+830C>T
c.4478+830C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39325564
chr1:39325620 A
A
 G
G
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 6 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(3): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.4478+886A>G
c.4478+886A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39325620
chr1:39325840 C
C
 T
T
 1 a0003c0002t0001g0156
a0003c0002t0001g0156
 1 NA18939.hp2
NA18939.hp2
 intron_variant MODIFIER c.4478+1106C>T
c.4478+1106C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39325840
chr1:39326058 A
A
 G
G
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 6 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(3): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.4479-1160A>G
c.4479-1160A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39326058
chr1:39326204 G
G
 C
C
 47 a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
others(44): Show 
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 47 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(44): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.4479-1014G>C
c.4479-1014G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39326204
chr1:39326273 G
G
 A
A
 2 a0002c0004t0001g0204
a0042c0052t0001g0201
a0002c0004t0001g0204
a0042c0052t0001g0201
 2 HG02257.hp1
HG02717.hp1
HG02257.hp1
HG02717.hp1
 intron_variant MODIFIER c.4479-945G>A
c.4479-945G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39326273
chr1:39326680 CA
CA
 C
C
 217 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(214): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0202
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 217 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(214): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4479-517delA
c.4479-517delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 INFO_REALIGN_3_PRIME chr1 39326680
chr1:39326680 CAA
CAA
 C
C
 8 a0001c0001t0001g0099
a0002c0003t0002g0188
a0002c0003t0002g0246
others(5): Show 
a0001c0001t0001g0099
a0002c0003t0002g0188
a0002c0003t0002g0246
a0002c0004t0001g0197
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 8 HG01069.hp2
HG02723.hp1
HG03041.hp1
others(5): Show 
HG01069.hp2
HG02723.hp1
HG03041.hp1
HG03130.hp2
HG03491.hp1
HG03491.hp2
HG03579.hp1
NA20805.hp2
 intron_variant MODIFIER c.4479-518_4479-517d
others(4): Show 
c.4479-518_4479-517delAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 INFO_REALIGN_3_PRIME chr1 39326680
chr1:39326697 A
A
 T
T
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.4479-521A>T
c.4479-521A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39326697
chr1:39326700 A
A
 G
G
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.4479-518A>G
c.4479-518A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39326700
chr1:39326736 T
T
 C
C
 1 a0001c0012t0001g0058
a0001c0012t0001g0058
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.4479-482T>C
c.4479-482T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39326736
chr1:39327098 G
G
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.4479-120G>A
c.4479-120G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 35/100 chr1 39327098
chr1:39327385 T
T
 TG
TG
 5 a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
others(2): Show 
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0044c0032t0001g0102
 5 HG02015.hp2
HG02040.hp1
NA18943.hp1
others(2): Show 
HG02015.hp2
HG02040.hp1
NA18943.hp1
NA18980.hp1
NA19000.hp1
 intron_variant MODIFIER c.4614+34dupG
c.4614+34dupG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39327385
chr1:39327559 C
C
 A
A
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.4614+206C>A
c.4614+206C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39327559
chr1:39327669 A
A
 C
C
 1 a0007c0007t0002g0054
a0007c0007t0002g0054
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.4614+316A>C
c.4614+316A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39327669
chr1:39327954 C
C
 T
T
 2 a0006c0005t0001g0236
a0006c0005t0001g0244
a0006c0005t0001g0236
a0006c0005t0001g0244
 2 HG04115.hp1
HG04204.hp1
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.4614+601C>T
c.4614+601C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39327954
chr1:39328019 T
T
 C
C
 13 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(10): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.4614+666T>C
c.4614+666T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39328019
chr1:39328051 A
A
 T
T
 1 a0032c0043t0001g0064
a0032c0043t0001g0064
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.4614+698A>T
c.4614+698A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39328051
chr1:39328348 C
C
 T
T
 1 a0003c0002t0001g0115
a0003c0002t0001g0115
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.4614+995C>T
c.4614+995C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39328348
chr1:39328373 A
A
 G
G
 2 a0008c0010t0003g0220
a0008c0010t0003g0221
a0008c0010t0003g0220
a0008c0010t0003g0221
 2 HG03209.hp2
HG03453.hp1
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.4614+1020A>G
c.4614+1020A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39328373
chr1:39329447 T
T
 G
G
 2 a0015c0022t0001g0005
a0015c0022t0001g0007
a0015c0022t0001g0005
a0015c0022t0001g0007
 2 HG02572.hp2
NA18522.hp2
HG02572.hp2
NA18522.hp2
 intron_variant MODIFIER c.4615-1756T>G
c.4615-1756T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39329447
chr1:39329537 G
G
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.4615-1666G>T
c.4615-1666G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39329537
chr1:39330053 C
C
 T
T
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4615-1150C>T
c.4615-1150C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39330053
chr1:39330549 T
T
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.4615-654T>C
c.4615-654T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39330549
chr1:39330667 A
A
 G
G
 5 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
others(2): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0031t0001g0106
 5 NA18939.hp1
NA18981.hp2
NA18983.hp2
others(2): Show 
NA18939.hp1
NA18981.hp2
NA18983.hp2
NA19010.hp2
NA19091.hp2
 intron_variant MODIFIER c.4615-536A>G
c.4615-536A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39330667
chr1:39330802 C
C
 CT
CT
 14 a0001c0001t0001g0091
a0002c0004t0001g0193
a0002c0004t0001g0195
others(11): Show 
a0001c0001t0001g0091
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 14 HG00639.hp2
HG01884.hp1
HG02055.hp1
others(11): Show 
HG00639.hp2
HG01884.hp1
HG02055.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.4615-384dupT
c.4615-384dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39330802
chr1:39330802 CT
CT
 C
C
 16 a0003c0002t0001g0128
a0006c0005t0001g0234
a0006c0005t0001g0235
others(13): Show 
a0003c0002t0001g0128
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0010c0016t0004g0140
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
a0052c0046t0001g0068
 16 HG00558.hp2
HG01069.hp1
HG01106.hp1
others(13): Show 
HG00558.hp2
HG01069.hp1
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA18942.hp1
NA20300.hp2
 intron_variant MODIFIER c.4615-384delT
c.4615-384delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39330802
chr1:39330948 C
C
 T
T
 1 a0001c0017t0001g0028
a0001c0017t0001g0028
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.4615-255C>T
c.4615-255C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39330948
chr1:39330988 C
C
 T
T
 1 a0004c0006t0001g0062
a0004c0006t0001g0062
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.4615-215C>T
c.4615-215C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39330988
chr1:39331172 C
C
 CT
CT
 6 a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
others(3): Show 
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0025t0001g0191
a0040c0051t0001g0205
 6 HG02145.hp2
HG02486.hp1
HG02886.hp2
others(3): Show 
HG02145.hp2
HG02486.hp1
HG02886.hp2
HG03491.hp2
NA19010.hp1
NA20129.hp1
 splice_acceptor_variant&intron_variant HIGH c.4615-3dupT
c.4615-3dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39331172
chr1:39331172 C
C
 CTT
CTT
 7 a0002c0004t0001g0202
a0005c0008t0001g0207
a0005c0008t0001g0210
others(4): Show 
a0002c0004t0001g0202
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
 7 HG00642.hp1
HG02818.hp2
HG02895.hp1
others(4): Show 
HG00642.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp2
NA19043.hp1
NA20300.hp1
 splice_acceptor_variant&intron_variant HIGH c.4615-4_4615-3dupTT
c.4615-4_4615-3dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39331172
chr1:39331172 CT
CT
 C
C
 74 a0002c0003t0001g0186
a0002c0003t0002g0093
a0002c0003t0002g0180
others(71): Show 
a0002c0003t0001g0186
a0002c0003t0002g0093
a0002c0003t0002g0180
a0002c0003t0002g0188
a0002c0015t0002g0112
a0003c0002t0001g0108
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0008c0010t0003g0219
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0016c0026t0001g0173
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0028c0050t0008g0233
a0030c0060t0001g0241
a0035c0055t0002g0179
a0036c0048t0001g0008
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 74 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(71): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18987.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19011.hp1
NA19030.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
 splice_region_variant&intron_variant LOW c.4615-3delT
c.4615-3delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39331172
chr1:39331172 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 2 a0001c0001t0001g0031
a0004c0035t0001g0063
a0001c0001t0001g0031
a0004c0035t0001g0063
 2 HG01167.hp1
NA18986.hp2
HG01167.hp1
NA18986.hp2
 splice_region_variant&intron_variant LOW c.4615-12_4615-3delT
others(9): Show 
c.4615-12_4615-3delTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39331172
chr1:39331172 CTTTTTTT
others(4): Show 
CTTTTTTTTTTT
 C
C
 89 a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
others(86): Show 
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 89 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(86): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01261.hp2
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.4615-13_4615-3delT
others(10): Show 
c.4615-13_4615-3delTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39331172
chr1:39331172 CTTTTTTT
others(5): Show 
CTTTTTTTTTTTT
 C
C
 2 a0001c0001t0001g0015
a0004c0006t0001g0077
a0001c0001t0001g0015
a0004c0006t0001g0077
 2 HG01099.hp1
HG04204.hp2
HG01099.hp1
HG04204.hp2
 splice_region_variant&intron_variant LOW c.4615-14_4615-3delT
others(11): Show 
c.4615-14_4615-3delTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39331172
chr1:39331172 CTTTTTTT
others(7): Show 
CTTTTTTTTTTTTTT
 C
C
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 splice_region_variant&intron_variant LOW c.4615-16_4615-3delT
others(13): Show 
c.4615-16_4615-3delTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 INFO_REALIGN_3_PRIME chr1 39331172
chr1:39331200 T
T
 A
A
 1 a0002c0003t0002g0188
a0002c0003t0002g0188
 1 NA20805.hp2
NA20805.hp2
 splice_region_variant&intron_variant LOW c.4615-3T>A
c.4615-3T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 36/100 chr1 39331200
chr1:39336709 A
A
 C
C
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.10065+56A>C
c.10065+56A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/100 chr1 39336709
chr1:39336738 A
A
 T
T
 1 a0008c0010t0001g0208
a0008c0010t0001g0208
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.10065+85A>T
c.10065+85A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/100 chr1 39336738
chr1:39336821 G
G
 A
A
 3 a0001c0001t0001g0030
a0001c0001t0001g0043
a0001c0001t0001g0099
a0001c0001t0001g0030
a0001c0001t0001g0043
a0001c0001t0001g0099
 3 HG00733.hp1
HG00735.hp1
HG03491.hp1
HG00733.hp1
HG00735.hp1
HG03491.hp1
 intron_variant MODIFIER c.10065+168G>A
c.10065+168G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/100 chr1 39336821
chr1:39336893 G
G
 A
A
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.10065+240G>A
c.10065+240G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 37/100 chr1 39336893
chr1:39337345 G
G
 A
A
 1 a0002c0003t0002g0228
a0002c0003t0002g0228
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.10215+14G>A
c.10215+14G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337345
chr1:39337562 A
A
 AT
AT
 31 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(28): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0215
a0006c0005t0001g0240
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
 31 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(28): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02896.hp1
HG02897.hp1
HG03471.hp1
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.10215+252dupT
c.10215+252dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 INFO_REALIGN_3_PRIME chr1 39337562
chr1:39337562 A
A
 ATT
ATT
 84 a0002c0003t0002g0183
a0002c0004t0001g0009
a0002c0004t0001g0010
others(81): Show 
a0002c0003t0002g0183
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0003c0002t0001g0108
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0134
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0062
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0030c0060t0001g0241
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
 84 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(81): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01106.hp1
HG01109.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03130.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG04115.hp1
HG04204.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA19010.hp1
NA19043.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.10215+251_10215+25
others(6): Show 
c.10215+251_10215+252dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 INFO_REALIGN_3_PRIME chr1 39337562
chr1:39337562 A
A
 ATTT
ATTT
 76 a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0051
others(73): Show 
a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0109
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0146
a0003c0002t0001g0160
a0004c0006t0001g0049
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0010g0225
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 76 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(73): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01167.hp1
HG01243.hp1
HG01261.hp2
HG01433.hp1
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG06807.hp1
NA18522.hp1
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18960.hp2
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19084.hp1
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10215+250_10215+25
others(7): Show 
c.10215+250_10215+252dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 INFO_REALIGN_3_PRIME chr1 39337562
chr1:39337562 A
A
 ATTTT
ATTTT
 27 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(24): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0103
a0001c0031t0001g0106
a0003c0002t0002g0137
a0009c0047t0001g0189
a0039c0042t0001g0021
a0048c0065t0001g0141
 27 HG00438.hp1
HG00733.hp1
HG01069.hp2
others(24): Show 
HG00438.hp1
HG00733.hp1
HG01069.hp2
HG01346.hp1
HG01361.hp1
HG02004.hp2
HG02074.hp1
HG02135.hp2
HG02273.hp1
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.10215+249_10215+25
others(8): Show 
c.10215+249_10215+252dupTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 INFO_REALIGN_3_PRIME chr1 39337562
chr1:39337636 G
G
 A
A
 1 a0002c0004t0001g0193
a0002c0004t0001g0193
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.10215+305G>A
c.10215+305G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337636
chr1:39337765 T
T
 G
G
 4 a0001c0017t0001g0028
a0001c0017t0001g0029
a0006c0005t0001g0234
others(1): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0006c0005t0001g0234
a0053c0077t0001g0020
 4 HG02071.hp2
HG02647.hp2
NA18971.hp1
others(1): Show 
HG02071.hp2
HG02647.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.10215+434T>G
c.10215+434T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337765
chr1:39337767 G
G
 T
T
 208 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(205): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 208 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(205): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10215+436G>T
c.10215+436G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337767
chr1:39337777 G
G
 A
A
 1 a0002c0039t0001g0073
a0002c0039t0001g0073
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.10215+446G>A
c.10215+446G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337777
chr1:39337779 T
T
 G
G
 18 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(15): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
a0043c0057t0001g0168
 18 HG01106.hp1
HG01243.hp1
HG02055.hp2
others(15): Show 
HG01106.hp1
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.10215+448T>G
c.10215+448T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337779
chr1:39337782 T
T
 C
C
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.10215+451T>C
c.10215+451T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337782
chr1:39337865 G
G
 A
A
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.10215+534G>A
c.10215+534G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337865
chr1:39337870 C
C
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.10215+539C>T
c.10215+539C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337870
chr1:39337895 G
G
 A
A
 90 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(87): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 90 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(87): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10215+564G>A
c.10215+564G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337895
chr1:39337922 G
G
 A
A
 2 a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0025t0001g0001
a0002c0025t0001g0191
 2 HG02145.hp2
HG03471.hp2
HG02145.hp2
HG03471.hp2
 intron_variant MODIFIER c.10215+591G>A
c.10215+591G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39337922
chr1:39338020 C
C
 T
T
 5 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(2): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0043c0057t0001g0168
 5 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.10215+689C>T
c.10215+689C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39338020
chr1:39338065 G
G
 A
A
 1 a0010c0016t0004g0145
a0010c0016t0004g0145
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.10215+734G>A
c.10215+734G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39338065
chr1:39338257 GTTGT
GTTGT
 G
G
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10215+929_10215+93
others(8): Show 
c.10215+929_10215+932delGTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 INFO_REALIGN_3_PRIME chr1 39338257
chr1:39338260 GT
GT
 G
G
 75 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(72): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0030c0060t0001g0241
a0036c0048t0001g0008
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 75 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(72): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19030.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.10215+941delT
c.10215+941delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 INFO_REALIGN_3_PRIME chr1 39338260
chr1:39338351 C
C
 T
T
 1 a0003c0002t0001g0151
a0003c0002t0001g0151
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.10215+1020C>T
c.10215+1020C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39338351
chr1:39338571 G
G
 A
A
 5 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(2): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0043c0057t0001g0168
 5 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.10215+1240G>A
c.10215+1240G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39338571
chr1:39338638 A
A
 G
G
 235 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(232): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 235 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(232): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10215+1307A>G
c.10215+1307A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39338638
chr1:39338846 G
G
 GACT
GACT
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.10215+1518_10215+1
others(9): Show 
c.10215+1518_10215+1520dupTAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 INFO_REALIGN_3_PRIME chr1 39338846
chr1:39339347 C
C
 T
T
 7 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
others(4): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0244
a0030c0060t0001g0241
 7 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(4): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.10216-1155C>T
c.10216-1155C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339347
chr1:39339484 T
T
 A
A
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.10216-1018T>A
c.10216-1018T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339484
chr1:39339485 G
G
 GCTCCTGT
others(3): Show 
GCTCCTGTTCA
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.10216-1017_10216-1
others(16): Show 
c.10216-1017_10216-1016insCTCCTGTTCA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339485
chr1:39339486 A
A
 G
G
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.10216-1016A>G
c.10216-1016A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339486
chr1:39339488 T
T
 TC
TC
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.10216-1014_10216-1
others(7): Show 
c.10216-1014_10216-1013insC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339488
chr1:39339489 T
T
 C
C
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.10216-1013T>C
c.10216-1013T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339489
chr1:39339630 T
T
 C
C
 168 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(165): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 168 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(165): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10216-872T>C
c.10216-872T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339630
chr1:39339852 G
G
 A
A
 2 a0001c0001t0001g0030
a0001c0001t0001g0099
a0001c0001t0001g0030
a0001c0001t0001g0099
 2 HG00735.hp1
HG03491.hp1
HG00735.hp1
HG03491.hp1
 intron_variant MODIFIER c.10216-650G>A
c.10216-650G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339852
chr1:39339916 G
G
 A
A
 1 a0001c0062t0001g0006
a0001c0062t0001g0006
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.10216-586G>A
c.10216-586G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39339916
chr1:39340089 T
T
 G
G
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 24 HG00639.hp2
HG00642.hp1
HG01884.hp1
others(21): Show 
HG00639.hp2
HG00642.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.10216-413T>G
c.10216-413T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39340089
chr1:39340140 G
G
 T
T
 1 a0010c0064t0004g0133
a0010c0064t0004g0133
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.10216-362G>T
c.10216-362G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39340140
chr1:39340320 T
T
 C
C
 2 a0003c0002t0001g0114
a0003c0002t0001g0152
a0003c0002t0001g0114
a0003c0002t0001g0152
 2 NA18974.hp1
NA18995.hp2
NA18974.hp1
NA18995.hp2
 intron_variant MODIFIER c.10216-182T>C
c.10216-182T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39340320
chr1:39340345 G
G
 A
A
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.10216-157G>A
c.10216-157G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 38/100 chr1 39340345
chr1:39341035 C
C
 CT
CT
 18 a0002c0003t0002g0044
a0003c0002t0001g0126
a0006c0005t0001g0234
others(15): Show 
a0002c0003t0002g0044
a0003c0002t0001g0126
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
a0037c0058t0001g0245
a0040c0051t0001g0205
a0043c0057t0001g0168
 18 HG00597.hp1
HG01106.hp1
HG01243.hp1
others(15): Show 
HG00597.hp1
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG02074.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA19010.hp1
NA20300.hp2
 intron_variant MODIFIER c.10581+98dupT
c.10581+98dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39341035
chr1:39341346 T
T
 C
C
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10581+393T>C
c.10581+393T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39341346
chr1:39341467 G
G
 A
A
 5 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(2): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0043c0057t0001g0168
 5 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.10581+514G>A
c.10581+514G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39341467
chr1:39341754 C
C
 T
T
 2 a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0081
a0007c0007t0001g0082
 2 NA18960.hp1
NA19080.hp2
NA18960.hp1
NA19080.hp2
 intron_variant MODIFIER c.10581+801C>T
c.10581+801C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39341754
chr1:39341786 A
A
 C
C
 117 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(114): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 117 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(114): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10581+833A>C
c.10581+833A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39341786
chr1:39342198 C
C
 A
A
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.10581+1245C>A
c.10581+1245C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342198
chr1:39342370 G
G
 A
A
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.10581+1417G>A
c.10581+1417G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342370
chr1:39342379 T
T
 C
C
 1 a0003c0002t0001g0159
a0003c0002t0001g0159
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.10581+1426T>C
c.10581+1426T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342379
chr1:39342463 C
C
 T
T
 5 a0003c0002t0001g0154
a0004c0011t0003g0167
a0004c0011t0003g0169
others(2): Show 
a0003c0002t0001g0154
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 5 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(2): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02809.hp1
HG06807.hp1
 intron_variant MODIFIER c.10581+1510C>T
c.10581+1510C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342463
chr1:39342466 C
C
 T
T
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.10581+1513C>T
c.10581+1513C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342466
chr1:39342467 G
G
 A
A
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.10581+1514G>A
c.10581+1514G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342467
chr1:39342530 G
G
 C
C
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.10581+1577G>C
c.10581+1577G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342530
chr1:39342536 C
C
 CT
CT
 72 a0001c0001t0001g0017
a0001c0001t0001g0039
a0001c0001t0001g0040
others(69): Show 
a0001c0001t0001g0017
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0091
a0001c0001t0001g0096
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0088
a0001c0018t0002g0036
a0002c0003t0001g0186
a0002c0003t0002g0127
a0002c0004t0001g0196
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0159
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0017c0020t0001g0085
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0030c0060t0001g0241
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 72 HG00544.hp1
HG00544.hp2
HG00558.hp1
others(69): Show 
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02738.hp2
HG02809.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
NA18942.hp1
NA18953.hp1
NA18953.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19011.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.10581+1599dupT
c.10581+1599dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39342536
chr1:39342536 C
C
 CTT
CTT
 8 a0003c0002t0001g0111
a0003c0002t0001g0134
a0003c0002t0001g0135
others(5): Show 
a0003c0002t0001g0111
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0147
a0003c0002t0001g0155
a0003c0002t0001g0160
a0003c0002t0001g0161
a0048c0065t0001g0141
 8 HG00280.hp1
HG00735.hp2
HG02135.hp2
others(5): Show 
HG00280.hp1
HG00735.hp2
HG02135.hp2
HG02738.hp1
NA18943.hp2
NA18954.hp2
NA19000.hp2
NA19084.hp1
 intron_variant MODIFIER c.10581+1598_10581+1
others(8): Show 
c.10581+1598_10581+1599dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39342536
chr1:39342552 TG
TG
 T
T
 3 a0001c0001t0001g0048
a0002c0003t0001g0187
a0040c0051t0001g0205
a0001c0001t0001g0048
a0002c0003t0001g0187
a0040c0051t0001g0205
 3 HG01981.hp1
NA18988.hp2
NA19010.hp1
HG01981.hp1
NA18988.hp2
NA19010.hp1
 intron_variant MODIFIER c.10581+1600delG
c.10581+1600delG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342552
chr1:39342553 G
G
 T
T
 228 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(225): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 228 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(225): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10581+1600G>T
c.10581+1600G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342553
chr1:39342675 T
T
 C
C
 13 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(10): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.10581+1722T>C
c.10581+1722T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342675
chr1:39342740 G
G
 A
A
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.10581+1787G>A
c.10581+1787G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342740
chr1:39342857 T
T
 G
G
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.10581+1904T>G
c.10581+1904T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39342857
chr1:39342977 C
C
 CA
CA
 5 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(2): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0043c0057t0001g0168
 5 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.10581+2031dupA
c.10581+2031dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39342977
chr1:39343057 C
C
 G
G
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.10581+2104C>G
c.10581+2104C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343057
chr1:39343083 C
C
 A
A
 1 a0003c0002t0001g0154
a0003c0002t0001g0154
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.10581+2130C>A
c.10581+2130C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343083
chr1:39343089 A
A
 G
G
 1 a0003c0002t0001g0154
a0003c0002t0001g0154
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.10581+2136A>G
c.10581+2136A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343089
chr1:39343313 T
T
 C
C
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.10581+2360T>C
c.10581+2360T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343313
chr1:39343518 A
A
 C
C
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.10581+2565A>C
c.10581+2565A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343518
chr1:39343612 C
C
 T
T
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10581+2659C>T
c.10581+2659C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343612
chr1:39343662 T
T
 G
G
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.10581+2709T>G
c.10581+2709T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343662
chr1:39343728 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.10581+2775G>A
c.10581+2775G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343728
chr1:39343994 A
A
 C
C
 1 a0035c0055t0002g0179
a0035c0055t0002g0179
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.10582-2983A>C
c.10582-2983A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39343994
chr1:39344040 G
G
 A
A
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0009c0014t0009g0192
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
HG03579.hp1
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.10582-2937G>A
c.10582-2937G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39344040
chr1:39344315 T
T
 C
C
 201 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(198): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0030c0060t0001g0241
a0032c0043t0001g0064
a0033c0053t0001g0200
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 201 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10582-2662T>C
c.10582-2662T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39344315
chr1:39344378 G
G
 A
A
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.10582-2599G>A
c.10582-2599G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39344378
chr1:39344431 C
C
 CA
CA
 7 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0002g0183
others(4): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0002g0183
a0002c0003t0002g0184
a0004c0019t0001g0052
a0009c0014t0009g0192
a0053c0077t0001g0020
 7 HG02071.hp2
HG03579.hp1
HG04115.hp2
others(4): Show 
HG02071.hp2
HG03579.hp1
HG04115.hp2
NA18971.hp1
NA18987.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.10582-2529dupA
c.10582-2529dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39344431
chr1:39344475 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.10582-2502A>G
c.10582-2502A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39344475
chr1:39344669 T
T
 G
G
 13 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(10): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.10582-2308T>G
c.10582-2308T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39344669
chr1:39345013 A
A
 G
G
 5 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(2): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0043c0057t0001g0168
 5 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.10582-1964A>G
c.10582-1964A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345013
chr1:39345377 A
A
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.10582-1600A>C
c.10582-1600A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345377
chr1:39345399 C
C
 T
T
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.10582-1578C>T
c.10582-1578C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345399
chr1:39345406 T
T
 C
C
 28 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(25): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
 28 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(25): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.10582-1571T>C
c.10582-1571T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345406
chr1:39345533 C
C
 T
T
 47 a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
others(44): Show 
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 47 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(44): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.10582-1444C>T
c.10582-1444C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345533
chr1:39345624 T
T
 G
G
 1 a0015c0022t0001g0005
a0015c0022t0001g0005
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.10582-1353T>G
c.10582-1353T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345624
chr1:39345703 A
A
 G
G
 2 a0009c0014t0009g0192
a0009c0047t0001g0189
a0009c0014t0009g0192
a0009c0047t0001g0189
 2 HG01069.hp2
HG03579.hp1
HG01069.hp2
HG03579.hp1
 intron_variant MODIFIER c.10582-1274A>G
c.10582-1274A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345703
chr1:39345791 G
G
 A
A
 3 a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
 3 HG02257.hp2
HG03098.hp1
HG03486.hp1
HG02257.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.10582-1186G>A
c.10582-1186G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345791
chr1:39345795 G
G
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.10582-1182G>A
c.10582-1182G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345795
chr1:39345806 G
G
 A
A
 1 a0008c0010t0001g0208
a0008c0010t0001g0208
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.10582-1171G>A
c.10582-1171G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345806
chr1:39345866 G
G
 A
A
 2 a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0180
a0002c0003t0002g0181
 2 HG01167.hp2
HG01346.hp2
HG01167.hp2
HG01346.hp2
 intron_variant MODIFIER c.10582-1111G>A
c.10582-1111G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39345866
chr1:39346068 G
G
 GA
GA
 19 a0001c0001t0001g0103
a0002c0004t0001g0196
a0003c0002t0001g0109
others(16): Show 
a0001c0001t0001g0103
a0002c0004t0001g0196
a0003c0002t0001g0109
a0003c0002t0001g0126
a0003c0002t0001g0149
a0004c0019t0001g0052
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 19 HG01106.hp1
HG01981.hp2
HG02074.hp2
others(16): Show 
HG01106.hp1
HG01981.hp2
HG02074.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
NA19000.hp1
NA20300.hp2
 intron_variant MODIFIER c.10582-896dupA
c.10582-896dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39346068
chr1:39346159 C
C
 T
T
 1 a0002c0004t0001g0196
a0002c0004t0001g0196
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.10582-818C>T
c.10582-818C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346159
chr1:39346187 C
C
 G
G
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.10582-790C>G
c.10582-790C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346187
chr1:39346311 G
G
 C
C
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.10582-666G>C
c.10582-666G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346311
chr1:39346335 C
C
 T
T
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 6 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(3): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.10582-642C>T
c.10582-642C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346335
chr1:39346521 C
C
 CT
CT
 22 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(19): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0008c0010t0003g0220
a0008c0010t0003g0221
a0033c0053t0001g0200
a0042c0052t0001g0201
 22 HG00639.hp2
HG00642.hp2
HG00735.hp2
others(19): Show 
HG00639.hp2
HG00642.hp2
HG00735.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02602.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03927.hp2
NA18906.hp2
 intron_variant MODIFIER c.10582-440dupT
c.10582-440dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39346521
chr1:39346521 CT
CT
 C
C
 14 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(11): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 14 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(11): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp1
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.10582-440delT
c.10582-440delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 INFO_REALIGN_3_PRIME chr1 39346521
chr1:39346541 A
A
 G
G
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.10582-436A>G
c.10582-436A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346541
chr1:39346550 C
C
 T
T
 13 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(10): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.10582-427C>T
c.10582-427C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346550
chr1:39346568 G
G
 A
A
 5 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(2): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
 5 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(2): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.10582-409G>A
c.10582-409G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346568
chr1:39346571 G
G
 A
A
 7 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
others(4): Show 
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
a0001c0062t0001g0006
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
 7 HG02055.hp1
HG02145.hp1
HG02257.hp2
others(4): Show 
HG02055.hp1
HG02145.hp1
HG02257.hp2
HG03098.hp1
HG03195.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.10582-406G>A
c.10582-406G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346571
chr1:39346596 C
C
 T
T
 2 a0017c0020t0001g0085
a0017c0020t0001g0086
a0017c0020t0001g0085
a0017c0020t0001g0086
 2 HG01433.hp1
HG02738.hp2
HG01433.hp1
HG02738.hp2
 intron_variant MODIFIER c.10582-381C>T
c.10582-381C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346596
chr1:39346668 T
T
 G
G
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.10582-309T>G
c.10582-309T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346668
chr1:39346676 C
C
 T
T
 1 a0032c0043t0001g0064
a0032c0043t0001g0064
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.10582-301C>T
c.10582-301C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346676
chr1:39346710 G
G
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.10582-267G>A
c.10582-267G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346710
chr1:39346731 G
G
 A
A
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.10582-246G>A
c.10582-246G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346731
chr1:39346762 G
G
 A
A
 91 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(88): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0039t0001g0073
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0236
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
 91 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(88): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00597.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10582-215G>A
c.10582-215G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346762
chr1:39346808 C
C
 T
T
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.10582-169C>T
c.10582-169C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346808
chr1:39346846 C
C
 T
T
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.10582-131C>T
c.10582-131C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346846
chr1:39346948 G
G
 T
T
 228 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(225): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
 228 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(225): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.10582-29G>T
c.10582-29G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 40/100 chr1 39346948
chr1:39347605 C
C
 T
T
 13 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(10): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.10815+395C>T
c.10815+395C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39347605
chr1:39347842 AAAAC
AAAAC
 A
A
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.10815+652_10815+65
others(8): Show 
c.10815+652_10815+655delCAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 INFO_REALIGN_3_PRIME chr1 39347842
chr1:39347912 GCTCAA
GCTCAA
 G
G
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.10815+709_10815+71
others(9): Show 
c.10815+709_10815+713delTCAAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 INFO_REALIGN_3_PRIME chr1 39347912
chr1:39348043 C
C
 T
T
 1 a0039c0042t0001g0021
a0039c0042t0001g0021
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.10815+833C>T
c.10815+833C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39348043
chr1:39348184 G
G
 C
C
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.10815+974G>C
c.10815+974G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39348184
chr1:39348227 A
A
 T
T
 1 a0004c0011t0003g0167
a0004c0011t0003g0167
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.10815+1017A>T
c.10815+1017A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39348227
chr1:39348257 T
T
 C
C
 1 a0010c0016t0004g0145
a0010c0016t0004g0145
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.10815+1047T>C
c.10815+1047T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39348257
chr1:39348431 T
T
 C
C
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.10816-1047T>C
c.10816-1047T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39348431
chr1:39348936 G
G
 C
C
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.10816-542G>C
c.10816-542G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39348936
chr1:39348986 A
A
 G
G
 1 a0003c0002t0001g0143
a0003c0002t0001g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.10816-492A>G
c.10816-492A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39348986
chr1:39349038 TC
TC
 T
T
 4 a0003c0002t0001g0135
a0003c0002t0001g0148
a0003c0002t0001g0156
others(1): Show 
a0003c0002t0001g0135
a0003c0002t0001g0148
a0003c0002t0001g0156
a0048c0065t0001g0141
 4 HG02135.hp2
NA18939.hp2
NA18975.hp2
others(1): Show 
HG02135.hp2
NA18939.hp2
NA18975.hp2
NA19084.hp1
 intron_variant MODIFIER c.10816-439delC
c.10816-439delC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39349038
chr1:39349062 A
A
 G
G
 2 a0006c0005t0001g0235
a0006c0005t0001g0239
a0006c0005t0001g0235
a0006c0005t0001g0239
 2 HG02572.hp1
HG02976.hp2
HG02572.hp1
HG02976.hp2
 intron_variant MODIFIER c.10816-416A>G
c.10816-416A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39349062
chr1:39349279 A
A
 G
G
 1 a0001c0031t0001g0106
a0001c0031t0001g0106
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.10816-199A>G
c.10816-199A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39349279
chr1:39349288 C
C
 T
T
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.10816-190C>T
c.10816-190C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39349288
chr1:39349309 A
A
 C
C
 3 a0004c0006t0001g0049
a0004c0006t0001g0069
a0052c0046t0001g0068
a0004c0006t0001g0049
a0004c0006t0001g0069
a0052c0046t0001g0068
 3 HG01069.hp1
HG02486.hp2
HG03209.hp1
HG01069.hp1
HG02486.hp2
HG03209.hp1
 intron_variant MODIFIER c.10816-169A>C
c.10816-169A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39349309
chr1:39349471 T
T
 A
A
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 splice_region_variant&intron_variant LOW c.10816-7T>A
c.10816-7T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 41/100 chr1 39349471
chr1:39349672 G
G
 A
A
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.10965+45G>A
c.10965+45G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 42/100 chr1 39349672
chr1:39349737 A
A
 G
G
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.10965+110A>G
c.10965+110A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 42/100 chr1 39349737
chr1:39350027 A
A
 C
C
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.10965+400A>C
c.10965+400A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 42/100 chr1 39350027
chr1:39350376 T
T
 A
A
 13 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(10): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 13 HG01109.hp2
HG01884.hp2
HG02976.hp1
others(10): Show 
HG01109.hp2
HG01884.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.10966-409T>A
c.10966-409T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 42/100 chr1 39350376
chr1:39350463 A
A
 G
G
 1 a0035c0055t0002g0179
a0035c0055t0002g0179
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.10966-322A>G
c.10966-322A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 42/100 chr1 39350463
chr1:39350508 T
T
 A
A
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.10966-277T>A
c.10966-277T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 42/100 chr1 39350508
chr1:39350509 G
G
 T
T
 1 a0015c0022t0001g0005
a0015c0022t0001g0005
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.10966-276G>T
c.10966-276G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 42/100 chr1 39350509
chr1:39351102 A
A
 G
G
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.11199+84A>G
c.11199+84A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351102
chr1:39351191 G
G
 A
A
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.11199+173G>A
c.11199+173G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351191
chr1:39351269 C
C
 G
G
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.11199+251C>G
c.11199+251C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351269
chr1:39351342 G
G
 A
A
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.11199+324G>A
c.11199+324G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351342
chr1:39351490 A
A
 G
G
 6 a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
others(3): Show 
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
 6 HG00140.hp1
HG00280.hp2
HG01099.hp1
others(3): Show 
HG00140.hp1
HG00280.hp2
HG01099.hp1
HG02683.hp2
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11199+472A>G
c.11199+472A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351490
chr1:39351550 G
G
 A
A
 13 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(10): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0030c0060t0001g0241
 13 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(10): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.11199+532G>A
c.11199+532G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351550
chr1:39351581 C
C
 CT
CT
 98 a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0046
others(95): Show 
a0001c0001t0001g0038
a0001c0001t0001g0041
a0001c0001t0001g0046
a0001c0001t0001g0080
a0001c0001t0001g0104
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0017t0001g0028
a0001c0018t0002g0036
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0188
a0002c0003t0002g0230
a0002c0003t0002g0246
a0002c0004t0001g0196
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0062
a0004c0006t0001g0077
a0004c0011t0003g0167
a0005c0009t0003g0215
a0005c0009t0003g0217
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0240
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0220
a0008c0010t0003g0221
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0012c0029t0001g0212
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0017c0020t0001g0085
a0018c0027t0001g0157
a0018c0027t0001g0158
a0023c0074t0001g0206
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0041c0033t0001g0055
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 98 HG00280.hp1
HG00544.hp1
HG00544.hp2
others(95): Show 
HG00280.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02647.hp1
HG02738.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03927.hp1
HG03927.hp2
HG06807.hp2
NA18939.hp2
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18983.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.11199+586dupT
c.11199+586dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 INFO_REALIGN_3_PRIME chr1 39351581
chr1:39351581 C
C
 CTT
CTT
 28 a0001c0001t0001g0103
a0001c0017t0001g0029
a0002c0003t0002g0127
others(25): Show 
a0001c0001t0001g0103
a0001c0017t0001g0029
a0002c0003t0002g0127
a0002c0003t0002g0185
a0002c0003t0002g0228
a0002c0003t0002g0231
a0003c0002t0001g0111
a0003c0002t0001g0122
a0003c0002t0001g0134
a0003c0002t0001g0147
a0003c0002t0001g0159
a0003c0002t0001g0160
a0005c0009t0003g0214
a0005c0009t0003g0216
a0005c0009t0003g0218
a0008c0010t0003g0219
a0012c0029t0001g0165
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0016c0026t0001g0174
a0019c0028t0001g0130
a0019c0028t0001g0132
a0024c0076t0003g0222
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
 28 HG00438.hp2
HG00639.hp1
HG00735.hp2
others(25): Show 
HG00438.hp2
HG00639.hp1
HG00735.hp2
HG00741.hp1
HG01243.hp2
HG02071.hp1
HG02071.hp2
HG02109.hp1
HG02683.hp1
HG02738.hp1
HG03098.hp2
HG03453.hp2
HG03516.hp1
HG03579.hp2
NA18522.hp2
NA18906.hp1
NA18943.hp2
NA18966.hp1
NA18980.hp2
NA18981.hp1
NA18986.hp1
NA19000.hp1
NA19000.hp2
NA19030.hp1
NA19086.hp1
NA19240.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.11199+585_11199+58
others(6): Show 
c.11199+585_11199+586dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 INFO_REALIGN_3_PRIME chr1 39351581
chr1:39351581 CT
CT
 C
C
 6 a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0239
others(3): Show 
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0239
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0047t0001g0189
 6 HG01069.hp2
HG02647.hp2
HG02976.hp2
others(3): Show 
HG01069.hp2
HG02647.hp2
HG02976.hp2
HG03130.hp2
HG03579.hp1
HG04204.hp1
 intron_variant MODIFIER c.11199+586delT
c.11199+586delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 INFO_REALIGN_3_PRIME chr1 39351581
chr1:39351866 G
G
 T
T
 13 a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
others(10): Show 
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0025c0030t0001g0067
a0052c0046t0001g0068
 13 HG00140.hp1
HG00280.hp2
HG01069.hp1
others(10): Show 
HG00140.hp1
HG00280.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG02280.hp2
HG02486.hp2
HG02683.hp2
HG03209.hp1
HG03490.hp2
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11199+848G>T
c.11199+848G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351866
chr1:39351924 C
C
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.11199+906C>G
c.11199+906C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39351924
chr1:39352380 A
A
 C
C
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.11200-627A>C
c.11200-627A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39352380
chr1:39352406 T
T
 C
C
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.11200-601T>C
c.11200-601T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39352406
chr1:39352560 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.11200-447G>A
c.11200-447G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39352560
chr1:39352777 C
C
 CT
CT
 12 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(9): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
 12 HG01106.hp1
HG02040.hp2
HG02572.hp1
others(9): Show 
HG01106.hp1
HG02040.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02738.hp2
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04204.hp1
NA18966.hp1
NA20300.hp2
 intron_variant MODIFIER c.11200-217dupT
c.11200-217dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 INFO_REALIGN_3_PRIME chr1 39352777
chr1:39352814 G
G
 A
A
 2 a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0183
a0002c0003t0002g0184
 2 NA19084.hp2
NA19088.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.11200-193G>A
c.11200-193G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39352814
chr1:39352981 C
C
 T
T
 1 a0007c0007t0001g0056
a0007c0007t0001g0056
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.11200-26C>T
c.11200-26C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 43/100 chr1 39352981
chr1:39353407 T
T
 C
C
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.11424+176T>C
c.11424+176T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39353407
chr1:39353409 C
C
 G
G
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.11424+178C>G
c.11424+178C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39353409
chr1:39353417 T
T
 C
C
 1 a0023c0074t0001g0206
a0023c0074t0001g0206
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.11424+186T>C
c.11424+186T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39353417
chr1:39353575 A
A
 T
T
 3 a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
 3 NA18953.hp2
NA18983.hp1
NA18988.hp2
NA18953.hp2
NA18983.hp1
NA18988.hp2
 intron_variant MODIFIER c.11424+344A>T
c.11424+344A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39353575
chr1:39353831 G
G
 A
A
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.11424+600G>A
c.11424+600G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39353831
chr1:39354074 C
C
 T
T
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.11424+843C>T
c.11424+843C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354074
chr1:39354224 A
A
 G
G
 1 a0002c0003t0001g0186
a0002c0003t0001g0186
 1 NA18953.hp2
NA18953.hp2
 intron_variant MODIFIER c.11424+993A>G
c.11424+993A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354224
chr1:39354256 G
G
 C
C
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.11424+1025G>C
c.11424+1025G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354256
chr1:39354466 A
A
 G
G
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.11424+1235A>G
c.11424+1235A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354466
chr1:39354538 A
A
 T
T
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.11424+1307A>T
c.11424+1307A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354538
chr1:39354630 C
C
 A
A
 14 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(11): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
a0043c0057t0001g0168
 14 HG01243.hp1
HG01243.hp2
HG02055.hp2
others(11): Show 
HG01243.hp1
HG01243.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG02572.hp2
HG02896.hp1
HG02897.hp1
HG03453.hp2
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.11424+1399C>A
c.11424+1399C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354630
chr1:39354638 C
C
 T
T
 52 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(49): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp1
 intron_variant MODIFIER c.11424+1407C>T
c.11424+1407C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354638
chr1:39354681 C
C
 T
T
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.11424+1450C>T
c.11424+1450C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354681
chr1:39354782 C
C
 T
T
 2 a0003c0002t0001g0128
a0047c0068t0001g0129
a0003c0002t0001g0128
a0047c0068t0001g0129
 2 NA18942.hp1
NA18971.hp2
NA18942.hp1
NA18971.hp2
 intron_variant MODIFIER c.11424+1551C>T
c.11424+1551C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354782
chr1:39354940 C
C
 A
A
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.11424+1709C>A
c.11424+1709C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39354940
chr1:39355242 C
C
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.11424+2011C>G
c.11424+2011C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355242
chr1:39355254 T
T
 G
G
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.11424+2023T>G
c.11424+2023T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355254
chr1:39355291 G
G
 C
C
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.11424+2060G>C
c.11424+2060G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355291
chr1:39355368 G
G
 T
T
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.11425-2007G>T
c.11425-2007G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355368
chr1:39355394 C
C
 T
T
 1 a0035c0055t0002g0179
a0035c0055t0002g0179
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.11425-1981C>T
c.11425-1981C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355394
chr1:39355460 C
C
 CT
CT
 21 a0001c0001t0001g0019
a0001c0001t0001g0039
a0001c0001t0001g0103
others(18): Show 
a0001c0001t0001g0019
a0001c0001t0001g0039
a0001c0001t0001g0103
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0037
a0002c0003t0002g0231
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0082
a0011c0013t0001g0079
a0025c0030t0001g0067
a0051c0045t0012g0022
a0052c0046t0001g0068
 21 HG00140.hp1
HG00280.hp2
HG00438.hp1
others(18): Show 
HG00140.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01361.hp1
HG02135.hp1
HG02280.hp2
HG02683.hp2
HG03209.hp1
HG03486.hp1
HG03490.hp2
NA18974.hp2
NA18999.hp1
NA19000.hp1
NA19080.hp2
NA19083.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.11425-1890dupT
c.11425-1890dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39355460
chr1:39355460 CT
CT
 C
C
 79 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(76): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0195
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0171
a0005c0008t0005g0163
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0026c0049t0001g0002
a0027c0063t0002g0229
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0050c0069t0001g0123
 79 HG00280.hp1
HG00558.hp2
HG00597.hp1
others(76): Show 
HG00280.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02809.hp1
HG02886.hp2
HG02922.hp2
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03927.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.11425-1890delT
c.11425-1890delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39355460
chr1:39355460 CTT
CTT
 C
C
 55 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0002g0182
others(52): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0002g0182
a0002c0004t0001g0193
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0004c0011t0003g0169
a0004c0011t0003g0170
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0014c0021t0001g0226
a0015c0022t0001g0005
a0015c0022t0001g0007
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0053c0077t0001g0020
 55 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(52): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01109.hp2
HG01243.hp1
HG01884.hp1
HG01884.hp2
HG02071.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18969.hp1
NA18971.hp1
NA18987.hp2
NA19010.hp1
NA19043.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.11425-1891_11425-1
others(8): Show 
c.11425-1891_11425-1890delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39355460
chr1:39355460 CTTTT
CTTTT
 C
C
 10 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(7): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 10 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(7): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.11425-1893_11425-1
others(10): Show 
c.11425-1893_11425-1890delTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39355460
chr1:39355460 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 2 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0091
a0001c0001t0001g0092
 2 HG02055.hp1
HG02145.hp1
HG02055.hp1
HG02145.hp1
 intron_variant MODIFIER c.11425-1899_11425-1
others(16): Show 
c.11425-1899_11425-1890delTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39355460
chr1:39355600 G
G
 A
A
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.11425-1775G>A
c.11425-1775G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355600
chr1:39355731 T
T
 C
C
 1 a0001c0001t0002g0034
a0001c0001t0002g0034
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.11425-1644T>C
c.11425-1644T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355731
chr1:39355792 T
T
 C
C
 3 a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
 3 HG02071.hp2
NA18971.hp1
NA18987.hp2
HG02071.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.11425-1583T>C
c.11425-1583T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355792
chr1:39355921 A
A
 G
G
 3 a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
 3 HG02071.hp2
NA18971.hp1
NA18987.hp2
HG02071.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.11425-1454A>G
c.11425-1454A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39355921
chr1:39356009 T
T
 C
C
 153 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(150): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.11425-1366T>C
c.11425-1366T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356009
chr1:39356033 C
C
 T
T
 2 a0015c0022t0001g0005
a0015c0022t0001g0007
a0015c0022t0001g0005
a0015c0022t0001g0007
 2 HG02572.hp2
NA18522.hp2
HG02572.hp2
NA18522.hp2
 intron_variant MODIFIER c.11425-1342C>T
c.11425-1342C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356033
chr1:39356034 G
G
 A
A
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.11425-1341G>A
c.11425-1341G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356034
chr1:39356064 C
C
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.11425-1311C>A
c.11425-1311C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356064
chr1:39356064 C
C
 T
T
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.11425-1311C>T
c.11425-1311C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356064
chr1:39356065 A
A
 G
G
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.11425-1310A>G
c.11425-1310A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356065
chr1:39356066 T
T
 A
A
 17 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(14): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0053c0077t0001g0020
 17 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(14): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.11425-1309T>A
c.11425-1309T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356066
chr1:39356348 G
G
 A
A
 17 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(14): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0053c0077t0001g0020
 17 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(14): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.11425-1027G>A
c.11425-1027G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356348
chr1:39356376 A
A
 AT
AT
 29 a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0053
others(26): Show 
a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0039t0001g0073
a0003c0002t0001g0160
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0020c0075t0001g0211
a0022c0072t0001g0209
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0044c0032t0001g0102
 29 HG00140.hp2
HG00642.hp1
HG00741.hp2
others(26): Show 
HG00140.hp2
HG00642.hp1
HG00741.hp2
HG01243.hp2
HG01261.hp2
HG01981.hp1
HG02015.hp2
HG02040.hp1
HG02109.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03453.hp2
HG03704.hp2
HG03927.hp1
NA18522.hp2
NA18943.hp1
NA18980.hp1
NA19000.hp1
NA19000.hp2
NA19030.hp1
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.11425-985dupT
c.11425-985dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39356376
chr1:39356376 A
A
 ATT
ATT
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.11425-986_11425-98
others(6): Show 
c.11425-986_11425-985dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39356376
chr1:39356418 G
G
 C
C
 2 a0015c0022t0001g0005
a0015c0022t0001g0007
a0015c0022t0001g0005
a0015c0022t0001g0007
 2 HG02572.hp2
NA18522.hp2
HG02572.hp2
NA18522.hp2
 intron_variant MODIFIER c.11425-957G>C
c.11425-957G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356418
chr1:39356436 G
G
 A
A
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.11425-939G>A
c.11425-939G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356436
chr1:39356622 C
C
 T
T
 3 a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
a0002c0003t0001g0186
a0002c0003t0001g0187
a0034c0056t0001g0176
 3 NA18953.hp2
NA18983.hp1
NA18988.hp2
NA18953.hp2
NA18983.hp1
NA18988.hp2
 intron_variant MODIFIER c.11425-753C>T
c.11425-753C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356622
chr1:39356831 A
A
 G
G
 1 a0003c0002t0001g0109
a0003c0002t0001g0109
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.11425-544A>G
c.11425-544A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356831
chr1:39356912 A
A
 G
G
 1 a0001c0031t0001g0106
a0001c0031t0001g0106
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.11425-463A>G
c.11425-463A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356912
chr1:39356995 G
G
 T
T
 1 a0002c0004t0001g0009
a0002c0004t0001g0009
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.11425-380G>T
c.11425-380G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39356995
chr1:39357040 G
G
 T
T
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.11425-335G>T
c.11425-335G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39357040
chr1:39357058 G
G
 T
T
 1 a0007c0007t0001g0082
a0007c0007t0001g0082
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.11425-317G>T
c.11425-317G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 chr1 39357058
chr1:39357360 A
A
 AT
AT
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 splice_region_variant&intron_variant LOW c.11425-6dupT
c.11425-6dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 44/100 INFO_REALIGN_3_PRIME chr1 39357360
chr1:39358119 C
C
 G
G
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.11943+226C>G
c.11943+226C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 45/100 chr1 39358119
chr1:39358194 A
A
 T
T
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.11943+301A>T
c.11943+301A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 45/100 chr1 39358194
chr1:39358311 G
G
 C
C
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.11944-386G>C
c.11944-386G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 45/100 chr1 39358311
chr1:39358474 A
A
 G
G
 1 a0002c0003t0002g0113
a0002c0003t0002g0113
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.11944-223A>G
c.11944-223A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 45/100 chr1 39358474
chr1:39358969 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.12120+96G>A
c.12120+96G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 46/100 chr1 39358969
chr1:39359046 C
C
 G
G
 153 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(150): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12121-95C>G
c.12121-95C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 46/100 chr1 39359046
chr1:39359108 T
T
 C
C
 1 a0048c0065t0001g0141
a0048c0065t0001g0141
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.12121-33T>C
c.12121-33T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 46/100 chr1 39359108
chr1:39359129 A
A
 G
G
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.12121-12A>G
c.12121-12A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 46/100 chr1 39359129
chr1:39359526 C
C
 T
T
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.12244+262C>T
c.12244+262C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359526
chr1:39359656 G
G
 A
A
 1 a0002c0003t0002g0113
a0002c0003t0002g0113
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.12244+392G>A
c.12244+392G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359656
chr1:39359697 G
G
 A
A
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.12244+433G>A
c.12244+433G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359697
chr1:39359753 G
G
 A
A
 1 a0004c0006t0001g0062
a0004c0006t0001g0062
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.12244+489G>A
c.12244+489G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359753
chr1:39359766 C
C
 T
T
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.12244+502C>T
c.12244+502C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359766
chr1:39359767 G
G
 A
A
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.12244+503G>A
c.12244+503G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359767
chr1:39359778 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.12244+514G>A
c.12244+514G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359778
chr1:39359805 C
C
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.12244+541C>G
c.12244+541C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39359805
chr1:39359986 C
C
 CAAA
CAAA
 10 a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0039
others(7): Show 
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0096
a0001c0001t0001g0099
a0016c0026t0001g0173
a0016c0026t0001g0174
a0039c0042t0001g0021
 10 HG00735.hp1
HG01346.hp1
HG01361.hp1
others(7): Show 
HG00735.hp1
HG01346.hp1
HG01361.hp1
HG02004.hp2
HG02040.hp2
HG02273.hp1
HG03491.hp1
NA18962.hp1
NA18966.hp1
NA18988.hp1
 intron_variant MODIFIER c.12244+747_12244+74
others(7): Show 
c.12244+747_12244+749dupAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39359986
chr1:39359986 CAAAAA
CAAAAA
 C
C
 5 a0001c0001t0001g0071
a0001c0001t0001g0103
a0001c0001t0001g0104
others(2): Show 
a0001c0001t0001g0071
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0004c0006t0001g0075
 5 HG02040.hp1
HG02723.hp2
NA18943.hp1
others(2): Show 
HG02040.hp1
HG02723.hp2
NA18943.hp1
NA19000.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.12244+745_12244+74
others(9): Show 
c.12244+745_12244+749delAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39359986
chr1:39360004 A
A
 T
T
 2 a0001c0012t0001g0060
a0032c0043t0001g0064
a0001c0012t0001g0060
a0032c0043t0001g0064
 2 HG03704.hp1
HG03704.hp2
HG03704.hp1
HG03704.hp2
 intron_variant MODIFIER c.12244+740A>T
c.12244+740A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360004
chr1:39360005 AAAAAAAA
others(16): Show 
AAAAAAAAATATATATATATATAT
 A
A
 1 a0003c0002t0001g0138
a0003c0002t0001g0138
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.12244+743_12245-76
others(27): Show 
c.12244+743_12245-764delAAAAAAATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360005
chr1:39360006 A
A
 T
T
 3 a0001c0001t0001g0098
a0001c0012t0001g0060
a0032c0043t0001g0064
a0001c0001t0001g0098
a0001c0012t0001g0060
a0032c0043t0001g0064
 3 HG03041.hp2
HG03704.hp1
HG03704.hp2
HG03041.hp2
HG03704.hp1
HG03704.hp2
 intron_variant MODIFIER c.12244+742A>T
c.12244+742A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360006
chr1:39360006 AAAAAAAA
others(15): Show 
AAAAAAAATATATATATATATAT
 A
A
 2 a0003c0002t0001g0108
a0045c0070t0001g0144
a0003c0002t0001g0108
a0045c0070t0001g0144
 2 HG00733.hp2
HG02602.hp1
HG00733.hp2
HG02602.hp1
 intron_variant MODIFIER c.12244+744_12245-76
others(26): Show 
c.12244+744_12245-764delAAAAAATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360006
chr1:39360007 AAAAAAAT
others(12): Show 
AAAAAAATATATATATATAT
 A
A
 2 a0001c0017t0001g0028
a0053c0077t0001g0020
a0001c0017t0001g0028
a0053c0077t0001g0020
 2 NA18971.hp1
NA18987.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.12244+745_12244+76
others(23): Show 
c.12244+745_12244+763delAAAAATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360007
chr1:39360007 AAAAAAAT
others(14): Show 
AAAAAAATATATATATATATAT
 A
A
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.12244+745_12245-76
others(25): Show 
c.12244+745_12245-764delAAAAATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360007
chr1:39360007 AAAAAAAT
others(16): Show 
AAAAAAATATATATATATATATAT
 A
A
 10 a0001c0001t0001g0051
a0003c0002t0001g0114
a0003c0002t0001g0128
others(7): Show 
a0001c0001t0001g0051
a0003c0002t0001g0114
a0003c0002t0001g0128
a0003c0002t0001g0142
a0003c0002t0001g0152
a0003c0002t0001g0160
a0003c0002t0001g0161
a0018c0027t0001g0157
a0018c0027t0001g0158
a0047c0068t0001g0129
 10 HG02015.hp1
NA18942.hp1
NA18954.hp2
others(7): Show 
HG02015.hp1
NA18942.hp1
NA18954.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18995.hp2
NA19000.hp2
NA19085.hp2
NA19240.hp2
 intron_variant MODIFIER c.12244+745_12245-76
others(27): Show 
c.12244+745_12245-762delAAAAATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360007
chr1:39360008 A
A
 T
T
 8 a0001c0001t0001g0080
a0001c0001t0001g0098
a0001c0001t0006g0066
others(5): Show 
a0001c0001t0001g0080
a0001c0001t0001g0098
a0001c0001t0006g0066
a0001c0012t0001g0060
a0001c0037t0001g0095
a0004c0035t0001g0063
a0032c0043t0001g0064
a0052c0046t0001g0068
 8 HG01069.hp1
HG01167.hp1
HG02615.hp2
others(5): Show 
HG01069.hp1
HG01167.hp1
HG02615.hp2
HG03041.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
NA21309.hp2
 intron_variant MODIFIER c.12244+744A>T
c.12244+744A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360008
chr1:39360008 AAAAAATA
others(5): Show 
AAAAAATATATAT
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.12244+746_12244+75
others(16): Show 
c.12244+746_12244+757delAAAATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360008
chr1:39360008 AAAAAATA
others(11): Show 
AAAAAATATATATATATAT
 A
A
 1 a0001c0017t0001g0029
a0001c0017t0001g0029
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.12244+746_12244+76
others(22): Show 
c.12244+746_12244+763delAAAATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360008
chr1:39360008 AAAAAATA
others(13): Show 
AAAAAATATATATATATATAT
 A
A
 2 a0003c0002t0001g0155
a0028c0050t0008g0233
a0003c0002t0001g0155
a0028c0050t0008g0233
 2 HG00280.hp1
HG02965.hp1
HG00280.hp1
HG02965.hp1
 intron_variant MODIFIER c.12244+746_12245-76
others(24): Show 
c.12244+746_12245-764delAAAATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360008
chr1:39360008 AAAAAATA
others(15): Show 
AAAAAATATATATATATATATAT
 A
A
 15 a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0115
others(12): Show 
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0115
a0003c0002t0001g0135
a0003c0002t0001g0147
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0159
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0019c0028t0001g0130
a0019c0028t0001g0132
a0048c0065t0001g0141
 15 HG00558.hp2
HG00609.hp1
HG00639.hp1
others(12): Show 
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG02135.hp2
HG02165.hp1
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18980.hp2
NA19084.hp1
 intron_variant MODIFIER c.12244+746_12245-76
others(26): Show 
c.12244+746_12245-762delAAAATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360008
chr1:39360008 AAAAAATA
others(17): Show 
AAAAAATATATATATATATATATAT
 A
A
 1 a0003c0002t0001g0122
a0003c0002t0001g0122
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.12244+746_12245-76
others(28): Show 
c.12244+746_12245-760delAAAATATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360008
chr1:39360009 AAAAATAT
others(6): Show 
AAAAATATATATAT
 A
A
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.12244+747_12244+75
others(17): Show 
c.12244+747_12244+759delAAATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360009
chr1:39360009 AAAAATAT
others(8): Show 
AAAAATATATATATAT
 A
A
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.12244+747_12244+76
others(19): Show 
c.12244+747_12244+761delAAATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360009
chr1:39360009 AAAAATAT
others(10): Show 
AAAAATATATATATATAT
 A
A
 3 a0005c0009t0003g0214
a0014c0021t0001g0226
a0014c0021t0001g0227
a0005c0009t0003g0214
a0014c0021t0001g0226
a0014c0021t0001g0227
 3 HG02896.hp1
HG02897.hp1
NA18906.hp1
HG02896.hp1
HG02897.hp1
NA18906.hp1
 intron_variant MODIFIER c.12244+747_12244+76
others(21): Show 
c.12244+747_12244+763delAAATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360009
chr1:39360009 AAAAATAT
others(12): Show 
AAAAATATATATATATATAT
 A
A
 3 a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
 3 HG02976.hp1
HG03471.hp1
HG03579.hp2
HG02976.hp1
HG03471.hp1
HG03579.hp2
 intron_variant MODIFIER c.12244+747_12245-76
others(23): Show 
c.12244+747_12245-764delAAATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360009
chr1:39360009 AAAAATAT
others(16): Show 
AAAAATATATATATATATATATAT
 A
A
 14 a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
others(11): Show 
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0049c0067t0001g0116
a0050c0069t0001g0123
 14 HG01099.hp2
HG01261.hp1
HG01361.hp2
others(11): Show 
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG02004.hp1
HG02129.hp1
HG02273.hp2
HG03490.hp1
NA18990.hp2
NA18999.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.12244+747_12245-76
others(27): Show 
c.12244+747_12245-760delAAATATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360009
chr1:39360009 AAAAATAT
others(18): Show 
AAAAATATATATATATATATATATAT
 A
A
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.12244+747_12245-75
others(29): Show 
c.12244+747_12245-758delAAATATATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360009
chr1:39360010 A
A
 T
T
 15 a0001c0001t0001g0061
a0001c0001t0001g0071
a0001c0001t0001g0080
others(12): Show 
a0001c0001t0001g0061
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0098
a0001c0001t0006g0066
a0001c0012t0001g0060
a0001c0037t0001g0095
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0077
a0004c0035t0001g0063
a0007c0007t0001g0081
a0032c0043t0001g0064
a0052c0046t0001g0068
 15 HG00140.hp1
HG01069.hp1
HG01099.hp1
others(12): Show 
HG00140.hp1
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG02615.hp2
HG02723.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
NA18960.hp1
NA21309.hp2
 intron_variant MODIFIER c.12244+746A>T
c.12244+746A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360010
chr1:39360010 AAAATATA
others(9): Show 
AAAATATATATATATAT
 A
A
 1 a0008c0010t0003g0219
a0008c0010t0003g0219
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.12244+748_12244+76
others(20): Show 
c.12244+748_12244+763delAATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360010
chr1:39360010 AAAATATA
others(11): Show 
AAAATATATATATATATAT
 A
A
 4 a0003c0002t0001g0149
a0012c0029t0001g0165
a0012c0029t0001g0212
others(1): Show 
a0003c0002t0001g0149
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 4 HG01884.hp2
HG01981.hp2
HG06807.hp2
others(1): Show 
HG01884.hp2
HG01981.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.12244+748_12245-76
others(22): Show 
c.12244+748_12245-764delAATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360010
chr1:39360010 AAAATATA
others(13): Show 
AAAATATATATATATATATAT
 A
A
 1 a0005c0009t0003g0218
a0005c0009t0003g0218
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.12244+748_12245-76
others(24): Show 
c.12244+748_12245-762delAATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360010
chr1:39360010 AAAATATA
others(15): Show 
AAAATATATATATATATATATAT
 A
A
 2 a0003c0002t0001g0111
a0003c0002t0001g0148
a0003c0002t0001g0111
a0003c0002t0001g0148
 2 HG00735.hp2
NA18975.hp2
HG00735.hp2
NA18975.hp2
 intron_variant MODIFIER c.12244+748_12245-76
others(26): Show 
c.12244+748_12245-760delAATATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360010
chr1:39360011 AAATATAT
others(10): Show 
AAATATATATATATATAT
 A
A
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.12244+749_12245-76
others(21): Show 
c.12244+749_12245-764delATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360011
chr1:39360011 AAATATAT
others(12): Show 
AAATATATATATATATATAT
 A
A
 4 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(1): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0026c0049t0001g0002
 4 HG02109.hp1
HG03453.hp2
NA18522.hp2
others(1): Show 
HG02109.hp1
HG03453.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.12244+749_12245-76
others(23): Show 
c.12244+749_12245-762delATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360011
chr1:39360011 AAATATAT
others(16): Show 
AAATATATATATATATATATATAT
 A
A
 5 a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
others(2): Show 
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0139
 5 HG00544.hp1
HG02074.hp2
NA18943.hp2
others(2): Show 
HG00544.hp1
HG02074.hp2
NA18943.hp2
NA18960.hp2
NA19011.hp1
 intron_variant MODIFIER c.12244+749_12245-75
others(27): Show 
c.12244+749_12245-758delATATATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360011
chr1:39360012 A
A
 AAAAAAAT
others(4): Show 
AAAAAAATATAT
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.12244+749_12244+75
others(15): Show 
c.12244+749_12244+750insAAAAATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360012 A
A
 AAAATATA
others(7): Show 
AAAATATATATATAT
 1 a0004c0038t0001g0084
a0004c0038t0001g0084
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.12244+749_12244+75
others(18): Show 
c.12244+749_12244+750insAATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360012 A
A
 T
T
 26 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0061
others(23): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0006g0066
a0001c0012t0001g0060
a0001c0037t0001g0095
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0035t0001g0063
a0007c0007t0001g0081
a0007c0007t0002g0054
a0011c0013t0001g0078
a0025c0030t0001g0067
a0032c0043t0001g0064
a0044c0032t0001g0102
a0052c0046t0001g0068
 26 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(23): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG02015.hp2
HG02132.hp1
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG03041.hp2
HG03130.hp1
HG03209.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
NA18960.hp1
NA21309.hp2
 intron_variant MODIFIER c.12244+748A>T
c.12244+748A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360012
chr1:39360012 AATATATA
others(1): Show 
AATATATAT
 A
A
 6 a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0004t0001g0010
others(3): Show 
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0004t0001g0010
a0002c0004t0001g0202
a0002c0004t0011g0194
a0033c0053t0001g0200
 6 HG02486.hp1
HG02895.hp2
HG02897.hp2
others(3): Show 
HG02486.hp1
HG02895.hp2
HG02897.hp2
HG03540.hp1
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.12245-747_12245-74
others(12): Show 
c.12245-747_12245-740delTATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360012 AATATATA
others(3): Show 
AATATATATAT
 A
A
 4 a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0228
others(1): Show 
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0228
a0027c0063t0002g0229
 4 HG00597.hp1
HG02071.hp1
NA19002.hp2
others(1): Show 
HG00597.hp1
HG02071.hp1
NA19002.hp2
NA19080.hp1
 intron_variant MODIFIER c.12245-749_12245-74
others(14): Show 
c.12245-749_12245-740delTATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360012 AATATATA
others(5): Show 
AATATATATATAT
 A
A
 7 a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
others(4): Show 
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0240
a0006c0005t0001g0242
a0017c0020t0001g0085
a0030c0060t0001g0241
 7 HG01106.hp1
HG02572.hp1
HG02738.hp2
others(4): Show 
HG01106.hp1
HG02572.hp1
HG02738.hp2
HG02922.hp1
HG03239.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.12245-751_12245-74
others(16): Show 
c.12245-751_12245-740delTATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360012 AATATATA
others(7): Show 
AATATATATATATAT
 A
A
 2 a0002c0004t0001g0195
a0002c0024t0001g0198
a0002c0004t0001g0195
a0002c0024t0001g0198
 2 HG00639.hp2
NA18906.hp2
HG00639.hp2
NA18906.hp2
 intron_variant MODIFIER c.12245-753_12245-74
others(18): Show 
c.12245-753_12245-740delTATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360012 AATATATA
others(9): Show 
AATATATATATATATAT
 A
A
 5 a0002c0004t0001g0193
a0002c0004t0001g0224
a0008c0010t0003g0213
others(2): Show 
a0002c0004t0001g0193
a0002c0004t0001g0224
a0008c0010t0003g0213
a0008c0010t0003g0220
a0008c0010t0003g0221
 5 HG01109.hp2
HG01884.hp1
HG02896.hp2
others(2): Show 
HG01109.hp2
HG01884.hp1
HG02896.hp2
HG03209.hp2
HG03453.hp1
 intron_variant MODIFIER c.12245-755_12245-74
others(20): Show 
c.12245-755_12245-740delTATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360012 AATATATA
others(11): Show 
AATATATATATATATATAT
 A
A
 1 a0008c0010t0001g0208
a0008c0010t0001g0208
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.12245-757_12245-74
others(22): Show 
c.12245-757_12245-740delTATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360012
chr1:39360013 AT
AT
 A
A
 3 a0001c0001t0001g0023
a0002c0003t0002g0181
a0007c0007t0002g0057
a0001c0001t0001g0023
a0002c0003t0002g0181
a0007c0007t0002g0057
 3 HG01346.hp2
HG02155.hp1
NA19010.hp2
HG01346.hp2
HG02155.hp1
NA19010.hp2
 intron_variant MODIFIER c.12244+750delT
c.12244+750delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360013
chr1:39360013 ATAT
ATAT
 A
A
 7 a0002c0004t0001g0009
a0002c0039t0001g0073
a0005c0008t0001g0207
others(4): Show 
a0002c0004t0001g0009
a0002c0039t0001g0073
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0164
a0005c0008t0007g0166
 7 HG00642.hp1
HG02818.hp2
HG02886.hp2
others(4): Show 
HG00642.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02965.hp2
NA20300.hp1
NA20805.hp1
 intron_variant MODIFIER c.12244+750_12244+75
others(7): Show 
c.12244+750_12244+752delTAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360013
chr1:39360013 ATATATAT
ATATATAT
 A
A
 4 a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0025t0001g0191
others(1): Show 
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0025t0001g0191
a0035c0055t0002g0179
 4 HG01081.hp1
HG02145.hp2
HG02717.hp1
others(1): Show 
HG01081.hp1
HG02145.hp2
HG02717.hp1
HG02818.hp1
 intron_variant MODIFIER c.12244+750_12244+75
others(11): Show 
c.12244+750_12244+756delTATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360013
chr1:39360013 ATATATAT
others(4): Show 
ATATATATATAT
 A
A
 13 a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0003t0002g0185
others(10): Show 
a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0003t0002g0185
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0172
a0002c0015t0002g0175
a0006c0005t0001g0234
a0009c0014t0010g0225
a0009c0047t0001g0189
a0034c0056t0001g0176
a0038c0054t0002g0178
 13 HG00438.hp2
HG01069.hp2
HG02132.hp2
others(10): Show 
HG00438.hp2
HG01069.hp2
HG02132.hp2
HG02165.hp2
HG02647.hp2
HG03041.hp1
HG03491.hp2
NA18962.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA19011.hp2
NA19086.hp1
 intron_variant MODIFIER c.12244+750_12244+76
others(15): Show 
c.12244+750_12244+760delTATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360013
chr1:39360013 ATATATAT
others(6): Show 
ATATATATATATAT
 A
A
 7 a0001c0001t0002g0032
a0002c0003t0001g0186
a0002c0003t0001g0187
others(4): Show 
a0001c0001t0002g0032
a0002c0003t0001g0186
a0002c0003t0001g0187
a0006c0005t0001g0236
a0006c0005t0001g0239
a0006c0005t0001g0243
a0006c0005t0001g0244
 7 HG02135.hp1
HG02602.hp2
HG02976.hp2
others(4): Show 
HG02135.hp1
HG02602.hp2
HG02976.hp2
HG04115.hp1
HG04204.hp1
NA18953.hp2
NA18988.hp2
 intron_variant MODIFIER c.12244+750_12244+76
others(17): Show 
c.12244+750_12244+762delTATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360013
chr1:39360013 ATATATAT
others(8): Show 
ATATATATATATATAT
 A
A
 6 a0002c0003t0002g0182
a0002c0004t0001g0196
a0002c0004t0001g0197
others(3): Show 
a0002c0003t0002g0182
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0024t0001g0203
a0031c0059t0002g0177
 6 HG02155.hp2
HG02647.hp1
HG02723.hp1
others(3): Show 
HG02155.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG03486.hp2
NA18969.hp1
 intron_variant MODIFIER c.12244+750_12244+76
others(19): Show 
c.12244+750_12244+764delTATATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360013
chr1:39360013 ATATATAT
others(16): Show 
ATATATATATATATATATATATAT
 A
A
 1 a0002c0003t0002g0188
a0002c0003t0002g0188
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.12244+750_12245-75
others(27): Show 
c.12244+750_12245-757delTATATATATATATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360013
chr1:39360014 T
T
 A
A
 19 a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0026
others(16): Show 
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0045
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0002g0088
a0016c0026t0001g0174
a0017c0020t0001g0086
a0039c0042t0001g0021
 19 HG00558.hp1
HG00735.hp1
HG01346.hp1
others(16): Show 
HG00558.hp1
HG00735.hp1
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG02004.hp2
HG02074.hp1
HG02273.hp1
HG03491.hp1
NA18939.hp1
NA18942.hp2
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18988.hp1
NA18990.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.12244+750T>A
c.12244+750T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360014
chr1:39360016 T
T
 A
A
 15 a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0026
others(12): Show 
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0026
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0089
a0001c0001t0001g0096
a0001c0001t0001g0099
a0001c0001t0002g0088
a0002c0003t0002g0181
a0020c0075t0001g0211
a0022c0072t0001g0209
a0039c0042t0001g0021
a0040c0051t0001g0205
 15 HG00558.hp1
HG01346.hp1
HG01346.hp2
others(12): Show 
HG00558.hp1
HG01346.hp1
HG01346.hp2
HG02004.hp2
HG02074.hp1
HG02273.hp1
HG02615.hp1
HG02717.hp2
HG03491.hp1
NA18939.hp1
NA18962.hp1
NA18988.hp1
NA18990.hp1
NA19010.hp1
NA19010.hp2
 intron_variant MODIFIER c.12244+752T>A
c.12244+752T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360016
chr1:39360018 T
T
 A
A
 9 a0001c0001t0001g0017
a0001c0001t0001g0041
a0001c0001t0001g0089
others(6): Show 
a0001c0001t0001g0017
a0001c0001t0001g0041
a0001c0001t0001g0089
a0001c0031t0001g0106
a0002c0003t0002g0181
a0002c0004t0001g0009
a0002c0039t0001g0073
a0005c0008t0001g0207
a0040c0051t0001g0205
 9 HG00642.hp1
HG01346.hp1
HG01346.hp2
others(6): Show 
HG00642.hp1
HG01346.hp1
HG01346.hp2
HG02074.hp1
HG02886.hp2
NA18983.hp2
NA18990.hp1
NA19010.hp1
NA20805.hp1
 intron_variant MODIFIER c.12244+754T>A
c.12244+754T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360018
chr1:39360020 T
T
 A
A
 6 a0002c0003t0002g0180
a0002c0025t0001g0001
a0002c0039t0001g0073
others(3): Show 
a0002c0003t0002g0180
a0002c0025t0001g0001
a0002c0039t0001g0073
a0009c0014t0001g0190
a0009c0014t0009g0192
a0040c0051t0001g0205
 6 HG01167.hp2
HG03130.hp2
HG03471.hp2
others(3): Show 
HG01167.hp2
HG03130.hp2
HG03471.hp2
HG03579.hp1
NA19010.hp1
NA20805.hp1
 intron_variant MODIFIER c.12244+756T>A
c.12244+756T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360020
chr1:39360022 T
T
 A
A
 11 a0002c0003t0002g0180
a0002c0004t0001g0010
a0002c0004t0001g0199
others(8): Show 
a0002c0003t0002g0180
a0002c0004t0001g0010
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0035c0055t0002g0179
a0040c0051t0001g0205
 11 HG01081.hp1
HG01167.hp2
HG02145.hp2
others(8): Show 
HG01081.hp1
HG01167.hp2
HG02145.hp2
HG02486.hp1
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG03471.hp2
HG03540.hp1
NA19010.hp1
 intron_variant MODIFIER c.12244+758T>A
c.12244+758T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360022
chr1:39360024 T
T
 A
A
 13 a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0228
others(10): Show 
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0228
a0002c0004t0001g0010
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0002c0025t0001g0001
a0002c0025t0001g0191
a0027c0063t0002g0229
a0033c0053t0001g0200
a0042c0052t0001g0201
 13 HG00597.hp1
HG02071.hp1
HG02145.hp2
others(10): Show 
HG00597.hp1
HG02071.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG03471.hp2
HG03540.hp1
NA19002.hp2
NA19080.hp1
 intron_variant MODIFIER c.12244+760T>A
c.12244+760T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360024
chr1:39360026 T
T
 A
A
 27 a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
others(24): Show 
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0185
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0010
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0002c0025t0001g0001
a0002c0025t0001g0191
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0240
a0006c0005t0001g0242
a0009c0014t0010g0225
a0009c0047t0001g0189
a0017c0020t0001g0085
a0030c0060t0001g0241
a0033c0053t0001g0200
a0038c0054t0002g0178
a0042c0052t0001g0201
 27 HG00438.hp2
HG01069.hp2
HG01106.hp1
others(24): Show 
HG00438.hp2
HG01069.hp2
HG01106.hp1
HG02145.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02647.hp2
HG02717.hp1
HG02738.hp2
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG03041.hp1
HG03239.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
NA18962.hp2
NA18981.hp1
NA18986.hp1
NA19080.hp1
NA19086.hp1
NA20300.hp2
 intron_variant MODIFIER c.12244+762T>A
c.12244+762T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360026
chr1:39360028 T
T
 A
A
 19 a0001c0001t0002g0032
a0002c0003t0002g0127
a0002c0003t0002g0246
others(16): Show 
a0001c0001t0002g0032
a0002c0003t0002g0127
a0002c0003t0002g0246
a0002c0004t0001g0195
a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0025t0001g0001
a0002c0025t0001g0191
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0244
a0009c0047t0001g0189
 19 HG00639.hp2
HG01069.hp2
HG01106.hp1
others(16): Show 
HG00639.hp2
HG01069.hp2
HG01106.hp1
HG02135.hp1
HG02145.hp2
HG02572.hp1
HG02647.hp2
HG02895.hp2
HG02897.hp2
HG02976.hp2
HG03239.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA18906.hp2
NA19086.hp1
NA20300.hp2
 intron_variant MODIFIER c.12244+764T>A
c.12244+764T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360028
chr1:39360030 T
T
 A
A
 13 a0002c0003t0002g0182
a0002c0004t0001g0193
a0002c0004t0001g0195
others(10): Show 
a0002c0003t0002g0182
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0024t0001g0203
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0031c0059t0002g0177
 13 HG02155.hp2
HG02572.hp1
HG02647.hp1
others(10): Show 
HG02155.hp2
HG02572.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG02976.hp2
HG03486.hp2
HG03516.hp2
HG04204.hp1
NA18906.hp2
NA18969.hp1
NA20300.hp2
 intron_variant MODIFIER c.12245-763T>A
c.12245-763T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360030
chr1:39360036 TATATATA
others(11): Show 
TATATATATATATATATAC
 T
T
 2 a0036c0048t0001g0008
a0037c0058t0001g0245
a0036c0048t0001g0008
a0037c0058t0001g0245
 2 HG01243.hp2
NA19030.hp1
HG01243.hp2
NA19030.hp1
 intron_variant MODIFIER c.12245-755_12245-73
others(22): Show 
c.12245-755_12245-738delTATATATATATATATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360036
chr1:39360042 T
T
 C
C
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.12245-751T>C
c.12245-751T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360042
chr1:39360044 T
T
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.12245-749T>C
c.12245-749T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360044
chr1:39360046 T
T
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.12245-747T>C
c.12245-747T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360046
chr1:39360048 T
T
 C
C
 8 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(5): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0038t0001g0084
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 8 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(5): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG03490.hp2
HG06807.hp1
 intron_variant MODIFIER c.12245-745T>C
c.12245-745T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360048
chr1:39360050 T
T
 C
C
 9 a0002c0015t0002g0112
a0004c0011t0003g0167
a0004c0011t0003g0169
others(6): Show 
a0002c0015t0002g0112
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0040c0051t0001g0205
a0043c0057t0001g0168
 9 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(6): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
NA18987.hp1
NA19010.hp1
 intron_variant MODIFIER c.12245-743T>C
c.12245-743T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360050
chr1:39360052 T
T
 C
C
 32 a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
others(29): Show 
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0040
a0001c0001t0001g0087
a0001c0001t0001g0099
a0001c0001t0002g0034
a0001c0001t0006g0066
a0001c0012t0001g0058
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0015t0002g0112
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0242
a0006c0005t0001g0243
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0220
a0008c0010t0003g0221
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0033c0053t0001g0200
a0034c0056t0001g0176
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
 32 HG00597.hp2
HG00735.hp1
HG01243.hp1
others(29): Show 
HG00597.hp2
HG00735.hp1
HG01243.hp1
HG02040.hp2
HG02055.hp2
HG02074.hp1
HG02109.hp2
HG02129.hp2
HG02155.hp1
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02602.hp2
HG02647.hp2
HG02717.hp1
HG02818.hp1
HG02896.hp1
HG02897.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03491.hp1
HG03540.hp1
HG06807.hp1
NA18981.hp2
NA18983.hp1
NA18987.hp1
NA19010.hp1
NA19043.hp2
NA19085.hp1
NA19086.hp2
NA21309.hp2
 intron_variant MODIFIER c.12245-741T>C
c.12245-741T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360052
chr1:39360054 C
C
 T
T
 77 a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0091
others(74): Show 
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0034t0001g0090
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0019t0001g0050
a0004c0035t0001g0063
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0009c0014t0009g0192
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
 77 HG00544.hp1
HG00558.hp2
HG00609.hp1
others(74): Show 
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01099.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02738.hp1
HG02809.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03540.hp2
HG03579.hp1
HG03927.hp2
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19080.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA19240.hp2
NA20129.hp2
 intron_variant MODIFIER c.12245-739C>T
c.12245-739C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360054
chr1:39360056 C
C
 T
T
 1 a0004c0019t0001g0050
a0004c0019t0001g0050
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.12245-737C>T
c.12245-737C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360056
chr1:39360072 T
T
 C
C
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.12245-721T>C
c.12245-721T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360072
chr1:39360075 GTATATAC
others(5): Show 
GTATATACACACA
 G
G
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.12245-705_12245-69
others(16): Show 
c.12245-705_12245-694delTATATACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360075
chr1:39360113 C
C
 T
T
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.12245-680C>T
c.12245-680C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360113
chr1:39360177 A
A
 G
G
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.12245-616A>G
c.12245-616A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360177
chr1:39360333 A
A
 G
G
 153 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(150): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12245-460A>G
c.12245-460A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360333
chr1:39360549 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.12245-244A>G
c.12245-244A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360549
chr1:39360671 T
T
 TATA
TATA
 58 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(55): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0014c0021t0001g0226
a0014c0021t0001g0227
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 58 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(55): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01243.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
HG06807.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.12245-101_12245-99
others(6): Show 
c.12245-101_12245-99dupAAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360671
chr1:39360719 A
A
 ATTAT
ATTAT
 152 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(149): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 152 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(149): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12245-71_12245-70i
others(6): Show 
c.12245-71_12245-70insTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 INFO_REALIGN_3_PRIME chr1 39360719
chr1:39360747 T
T
 C
C
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.12245-46T>C
c.12245-46T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 47/100 chr1 39360747
chr1:39361306 C
C
 T
T
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.12454-54C>T
c.12454-54C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 48/100 chr1 39361306
chr1:39361967 T
T
 C
C
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.12771+290T>C
c.12771+290T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39361967
chr1:39362269 T
T
 C
C
 2 a0003c0002t0001g0135
a0048c0065t0001g0141
a0003c0002t0001g0135
a0048c0065t0001g0141
 2 HG02135.hp2
NA19084.hp1
HG02135.hp2
NA19084.hp1
 intron_variant MODIFIER c.12771+592T>C
c.12771+592T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39362269
chr1:39362561 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.12771+884G>A
c.12771+884G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39362561
chr1:39362710 T
T
 C
C
 79 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(76): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0053c0077t0001g0020
 79 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(76): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12771+1033T>C
c.12771+1033T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39362710
chr1:39362777 A
A
 G
G
 5 a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
others(2): Show 
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0096
 5 HG01346.hp1
HG01361.hp1
HG01952.hp2
others(2): Show 
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02273.hp1
 intron_variant MODIFIER c.12771+1100A>G
c.12771+1100A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39362777
chr1:39363586 C
C
 CTCTT
CTCTT
 25 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(22): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0030c0060t0001g0241
a0036c0048t0001g0008
a0037c0058t0001g0245
a0043c0057t0001g0168
 25 HG01106.hp1
HG01243.hp1
HG01243.hp2
others(22): Show 
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.12771+1927_12771+1
others(10): Show 
c.12771+1927_12771+1930dupCTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39363586
chr1:39363586 C
C
 CTCTTTCT
others(1): Show 
CTCTTTCTT
 50 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(47): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(47): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.12771+1923_12771+1
others(14): Show 
c.12771+1923_12771+1930dupCTTTCTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39363586
chr1:39363604 C
C
 CTTTCT
CTTTCT
 66 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(63): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0053c0077t0001g0020
 66 HG00438.hp2
HG00639.hp2
HG01069.hp2
others(63): Show 
HG00438.hp2
HG00639.hp2
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12771+1930_12771+1
others(11): Show 
c.12771+1930_12771+1931insCTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39363604
chr1:39363604 C
C
 CTTTCTT
CTTTCTT
 8 a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0175
others(5): Show 
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0175
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00597.hp1
HG00642.hp1
HG02132.hp2
others(5): Show 
HG00597.hp1
HG00642.hp1
HG02132.hp2
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
NA18987.hp1
 intron_variant MODIFIER c.12771+1930_12771+1
others(12): Show 
c.12771+1930_12771+1931insCTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39363604
chr1:39364009 G
G
 T
T
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.12771+2332G>T
c.12771+2332G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364009
chr1:39364023 T
T
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.12771+2346T>A
c.12771+2346T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364023
chr1:39364135 G
G
 C
C
 5 a0003c0002t0001g0114
a0003c0002t0001g0128
a0003c0002t0001g0142
others(2): Show 
a0003c0002t0001g0114
a0003c0002t0001g0128
a0003c0002t0001g0142
a0003c0002t0001g0152
a0047c0068t0001g0129
 5 HG02015.hp1
NA18942.hp1
NA18971.hp2
others(2): Show 
HG02015.hp1
NA18942.hp1
NA18971.hp2
NA18974.hp1
NA18995.hp2
 intron_variant MODIFIER c.12771+2458G>C
c.12771+2458G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364135
chr1:39364313 T
T
 C
C
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.12771+2636T>C
c.12771+2636T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364313
chr1:39364373 G
G
 GT
GT
 115 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(112): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 115 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(112): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12771+2708dupT
c.12771+2708dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39364373
chr1:39364422 T
T
 A
A
 1 a0010c0064t0004g0133
a0010c0064t0004g0133
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.12771+2745T>A
c.12771+2745T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364422
chr1:39364439 A
A
 G
G
 1 a0002c0003t0002g0230
a0002c0003t0002g0230
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.12771+2762A>G
c.12771+2762A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364439
chr1:39364495 A
A
 AT
AT
 10 a0001c0040t0001g0014
a0002c0003t0001g0186
a0002c0004t0001g0195
others(7): Show 
a0001c0040t0001g0014
a0002c0003t0001g0186
a0002c0004t0001g0195
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0160
a0007c0007t0001g0081
a0007c0007t0001g0082
 10 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(7): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
NA18522.hp1
NA18906.hp2
NA18953.hp2
NA18960.hp1
NA19000.hp2
NA19080.hp2
 intron_variant MODIFIER c.12771+2833dupT
c.12771+2833dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39364495
chr1:39364515 C
C
 T
T
 25 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(22): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 25 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(22): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.12771+2838C>T
c.12771+2838C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364515
chr1:39364548 A
A
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.12771+2871A>G
c.12771+2871A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364548
chr1:39364586 G
G
 A
A
 44 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(41): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0053c0077t0001g0020
 44 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(41): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12771+2909G>A
c.12771+2909G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364586
chr1:39364669 T
T
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.12771+2992T>C
c.12771+2992T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364669
chr1:39364727 C
C
 T
T
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.12771+3050C>T
c.12771+3050C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364727
chr1:39364787 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.12771+3110C>T
c.12771+3110C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39364787
chr1:39365176 A
A
 C
C
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.12772-2972A>C
c.12772-2972A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39365176
chr1:39365260 T
T
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.12772-2888T>A
c.12772-2888T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39365260
chr1:39365269 G
G
 T
T
 3 a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
 3 HG00544.hp2
HG00609.hp2
NA18995.hp1
HG00544.hp2
HG00609.hp2
NA18995.hp1
 intron_variant MODIFIER c.12772-2879G>T
c.12772-2879G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39365269
chr1:39365561 G
G
 A
A
 2 a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0180
a0002c0003t0002g0181
 2 HG01167.hp2
HG01346.hp2
HG01167.hp2
HG01346.hp2
 intron_variant MODIFIER c.12772-2587G>A
c.12772-2587G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39365561
chr1:39365620 A
A
 G
G
 1 a0016c0026t0001g0174
a0016c0026t0001g0174
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.12772-2528A>G
c.12772-2528A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39365620
chr1:39365659 T
T
 G
G
 79 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(76): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0053c0077t0001g0020
 79 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(76): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12772-2489T>G
c.12772-2489T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39365659
chr1:39365865 G
G
 A
A
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.12772-2283G>A
c.12772-2283G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39365865
chr1:39366082 G
G
 A
A
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.12772-2066G>A
c.12772-2066G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366082
chr1:39366096 A
A
 G
G
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.12772-2052A>G
c.12772-2052A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366096
chr1:39366151 G
G
 A
A
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.12772-1997G>A
c.12772-1997G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366151
chr1:39366181 A
A
 G
G
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.12772-1967A>G
c.12772-1967A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366181
chr1:39366260 C
C
 T
T
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.12772-1888C>T
c.12772-1888C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366260
chr1:39366647 G
G
 A
A
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 HG01081.hp2
HG01981.hp1
HG01081.hp2
HG01981.hp1
 intron_variant MODIFIER c.12772-1501G>A
c.12772-1501G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366647
chr1:39366696 CT
CT
 C
C
 138 a0001c0001t0001g0046
a0001c0001t0001g0103
a0001c0017t0001g0028
others(135): Show 
a0001c0001t0001g0046
a0001c0001t0001g0103
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 138 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(135): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12772-1436delT
c.12772-1436delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39366696
chr1:39366735 T
T
 C
C
 139 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(136): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 139 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(136): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12772-1413T>C
c.12772-1413T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366735
chr1:39366763 C
C
 T
T
 2 a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0242
a0006c0005t0001g0243
 2 HG02602.hp2
HG03239.hp2
HG02602.hp2
HG03239.hp2
 intron_variant MODIFIER c.12772-1385C>T
c.12772-1385C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39366763
chr1:39366943 C
C
 CT
CT
 12 a0001c0001t0001g0091
a0001c0034t0001g0090
a0001c0041t0001g0072
others(9): Show 
a0001c0001t0001g0091
a0001c0034t0001g0090
a0001c0041t0001g0072
a0002c0003t0001g0186
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0011c0013t0001g0079
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0174
a0043c0057t0001g0168
 12 HG01243.hp1
HG02055.hp1
HG02055.hp2
others(9): Show 
HG01243.hp1
HG02055.hp1
HG02055.hp2
HG02280.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03195.hp1
HG03486.hp1
HG06807.hp1
NA18953.hp2
NA18966.hp1
 intron_variant MODIFIER c.12772-1184dupT
c.12772-1184dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39366943
chr1:39366943 CT
CT
 C
C
 97 a0001c0001t0001g0043
a0002c0003t0002g0185
a0002c0004t0001g0009
others(94): Show 
a0001c0001t0001g0043
a0002c0003t0002g0185
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0026c0049t0001g0002
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0033c0053t0001g0200
a0037c0058t0001g0245
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0050c0069t0001g0123
 97 HG00544.hp1
HG00558.hp2
HG00609.hp1
others(94): Show 
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01106.hp1
HG01243.hp2
HG01261.hp1
HG01361.hp2
HG01884.hp1
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19011.hp1
NA19043.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.12772-1184delT
c.12772-1184delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39366943
chr1:39366943 CTT
CTT
 C
C
 18 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(15): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0053c0077t0001g0020
 18 HG01069.hp2
HG01109.hp2
HG01884.hp2
others(15): Show 
HG01069.hp2
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.12772-1185_12772-1
others(8): Show 
c.12772-1185_12772-1184delTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39366943
chr1:39367071 C
C
 T
T
 2 a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0004t0001g0202
a0002c0004t0011g0194
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.12772-1077C>T
c.12772-1077C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367071
chr1:39367165 A
A
 C
C
 1 a0003c0002t0001g0126
a0003c0002t0001g0126
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.12772-983A>C
c.12772-983A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367165
chr1:39367194 G
G
 A
A
 3 a0003c0002t0001g0114
a0003c0002t0001g0142
a0003c0002t0001g0152
a0003c0002t0001g0114
a0003c0002t0001g0142
a0003c0002t0001g0152
 3 HG02015.hp1
NA18974.hp1
NA18995.hp2
HG02015.hp1
NA18974.hp1
NA18995.hp2
 intron_variant MODIFIER c.12772-954G>A
c.12772-954G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367194
chr1:39367301 A
A
 G
G
 2 a0001c0001t0001g0038
a0039c0042t0001g0021
a0001c0001t0001g0038
a0039c0042t0001g0021
 2 NA18962.hp1
NA18988.hp1
NA18962.hp1
NA18988.hp1
 intron_variant MODIFIER c.12772-847A>G
c.12772-847A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367301
chr1:39367301 A
A
 T
T
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.12772-847A>T
c.12772-847A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367301
chr1:39367518 T
T
 C
C
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.12772-630T>C
c.12772-630T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367518
chr1:39367730 G
G
 A
A
 1 a0004c0038t0001g0084
a0004c0038t0001g0084
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.12772-418G>A
c.12772-418G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367730
chr1:39367788 TTTTTTAA
others(6): Show 
TTTTTTAATTGGGC
 T
T
 2 a0003c0002t0001g0154
a0045c0070t0001g0144
a0003c0002t0001g0154
a0045c0070t0001g0144
 2 HG00733.hp2
HG02809.hp1
HG00733.hp2
HG02809.hp1
 intron_variant MODIFIER c.12772-351_12772-33
others(17): Show 
c.12772-351_12772-339delTGGGCTTTTTAAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39367788
chr1:39367801 C
C
 T
T
 153 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(150): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12772-347C>T
c.12772-347C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367801
chr1:39367831 A
A
 G
G
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12772-317A>G
c.12772-317A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367831
chr1:39367863 G
G
 A
A
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.12772-285G>A
c.12772-285G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367863
chr1:39367885 G
G
 A
A
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.12772-263G>A
c.12772-263G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367885
chr1:39367976 G
G
 GA
GA
 9 a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0017t0001g0029
others(6): Show 
a0001c0001t0001g0017
a0001c0001t0001g0070
a0001c0017t0001g0029
a0002c0039t0001g0073
a0003c0002t0001g0122
a0003c0002t0001g0150
a0004c0006t0001g0062
a0004c0019t0001g0052
a0008c0010t0003g0219
 9 HG00741.hp1
HG01081.hp2
HG01109.hp1
others(6): Show 
HG00741.hp1
HG01081.hp2
HG01109.hp1
HG01361.hp2
HG02071.hp2
HG02074.hp1
HG03516.hp1
HG04115.hp2
NA20805.hp1
 intron_variant MODIFIER c.12772-155dupA
c.12772-155dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39367976
chr1:39367976 GA
GA
 G
G
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02922.hp1
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.12772-155delA
c.12772-155delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39367976
chr1:39367993 AT
AT
 A
A
 10 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(7): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
 10 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(7): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03471.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.12772-154delT
c.12772-154delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 chr1 39367993
chr1:39368003 GT
GT
 G
G
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12772-137delT
c.12772-137delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 49/100 INFO_REALIGN_3_PRIME chr1 39368003
chr1:39368691 G
G
 A
A
 1 a0002c0025t0001g0001
a0002c0025t0001g0001
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.12938+377G>A
c.12938+377G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39368691
chr1:39368900 T
T
 C
C
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.12938+586T>C
c.12938+586T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39368900
chr1:39368945 A
A
 G
G
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.12938+631A>G
c.12938+631A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39368945
chr1:39368999 C
C
 CT
CT
 60 a0001c0001t0001g0015
a0001c0001t0001g0091
a0001c0001t0001g0098
others(57): Show 
a0001c0001t0001g0015
a0001c0001t0001g0091
a0001c0001t0001g0098
a0001c0001t0001g0103
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0147
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0010c0064t0004g0133
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0027c0063t0002g0229
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 60 HG00438.hp2
HG00597.hp1
HG00609.hp1
others(57): Show 
HG00438.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp2
HG00642.hp1
HG01081.hp1
HG01346.hp2
HG01884.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp2
HG04204.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19000.hp1
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.12938+705dupT
c.12938+705dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 INFO_REALIGN_3_PRIME chr1 39368999
chr1:39368999 C
C
 CTT
CTT
 8 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(5): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 8 HG01069.hp2
HG02486.hp1
HG02886.hp2
others(5): Show 
HG01069.hp2
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.12938+704_12938+70
others(6): Show 
c.12938+704_12938+705dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 INFO_REALIGN_3_PRIME chr1 39368999
chr1:39369020 A
A
 T
T
 129 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(126): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 129 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(126): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12938+706A>T
c.12938+706A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39369020
chr1:39369068 G
G
 A
A
 2 a0001c0001t0001g0031
a0001c0001t0001g0094
a0001c0001t0001g0031
a0001c0001t0001g0094
 2 NA18986.hp2
NA19002.hp1
NA18986.hp2
NA19002.hp1
 intron_variant MODIFIER c.12938+754G>A
c.12938+754G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39369068
chr1:39369275 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.12939-755A>G
c.12939-755A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39369275
chr1:39369299 G
G
 A
A
 1 a0019c0028t0001g0132
a0019c0028t0001g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.12939-731G>A
c.12939-731G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39369299
chr1:39369868 T
T
 C
C
 149 a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0062t0001g0006
others(146): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 149 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(146): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.12939-162T>C
c.12939-162T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39369868
chr1:39369953 A
A
 G
G
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.12939-77A>G
c.12939-77A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 50/100 chr1 39369953
chr1:39370636 A
A
 G
G
 1 a0012c0029t0001g0212
a0012c0029t0001g0212
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.13095+450A>G
c.13095+450A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39370636
chr1:39370917 T
T
 G
G
 1 a0002c0004t0001g0204
a0002c0004t0001g0204
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.13095+731T>G
c.13095+731T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39370917
chr1:39371005 G
G
 A
A
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.13095+819G>A
c.13095+819G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371005
chr1:39371092 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.13095+906G>A
c.13095+906G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371092
chr1:39371096 G
G
 A
A
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.13095+910G>A
c.13095+910G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371096
chr1:39371319 C
C
 CA
CA
 13 a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0041
others(10): Show 
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0096
a0001c0001t0001g0107
a0001c0001t0002g0088
a0001c0001t0006g0066
a0004c0006t0001g0069
a0007c0007t0001g0101
a0039c0042t0001g0021
 13 HG00558.hp1
HG01346.hp1
HG01952.hp2
others(10): Show 
HG00558.hp1
HG01346.hp1
HG01952.hp2
HG02004.hp2
HG02273.hp1
HG02523.hp1
HG03209.hp1
NA18962.hp1
NA18980.hp1
NA18988.hp1
NA18990.hp1
NA19086.hp2
NA21309.hp2
 intron_variant MODIFIER c.13096-1139dupA
c.13096-1139dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 INFO_REALIGN_3_PRIME chr1 39371319
chr1:39371319 CA
CA
 C
C
 19 a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0025t0001g0191
others(16): Show 
a0002c0003t0002g0093
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0118
a0003c0002t0001g0152
a0004c0011t0003g0167
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0030c0060t0001g0241
 19 HG01106.hp1
HG02055.hp2
HG02145.hp2
others(16): Show 
HG01106.hp1
HG02055.hp2
HG02145.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03130.hp2
HG03239.hp2
HG03471.hp2
HG03516.hp2
HG03579.hp1
HG04115.hp1
HG04204.hp1
NA18962.hp2
NA18974.hp1
NA19083.hp2
NA20300.hp2
 intron_variant MODIFIER c.13096-1139delA
c.13096-1139delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 INFO_REALIGN_3_PRIME chr1 39371319
chr1:39371319 CAA
CAA
 C
C
 120 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(117): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 120 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(117): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03927.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13096-1140_13096-1
others(8): Show 
c.13096-1140_13096-1139delAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 INFO_REALIGN_3_PRIME chr1 39371319
chr1:39371319 CAAA
CAAA
 C
C
 14 a0002c0003t0002g0230
a0002c0004t0001g0009
a0002c0004t0001g0010
others(11): Show 
a0002c0003t0002g0230
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0002t0001g0110
a0003c0002t0001g0111
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0005c0009t0003g0217
a0014c0021t0001g0227
a0020c0075t0001g0211
a0022c0072t0001g0209
 14 HG00642.hp1
HG00642.hp2
HG00735.hp2
others(11): Show 
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG02165.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp1
NA20129.hp1
 intron_variant MODIFIER c.13096-1141_13096-1
others(9): Show 
c.13096-1141_13096-1139delAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 INFO_REALIGN_3_PRIME chr1 39371319
chr1:39371347 T
T
 C
C
 2 a0006c0005t0001g0235
a0006c0005t0001g0239
a0006c0005t0001g0235
a0006c0005t0001g0239
 2 HG02572.hp1
HG02976.hp2
HG02572.hp1
HG02976.hp2
 intron_variant MODIFIER c.13096-1132T>C
c.13096-1132T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371347
chr1:39371430 C
C
 T
T
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13096-1049C>T
c.13096-1049C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371430
chr1:39371487 A
A
 G
G
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.13096-992A>G
c.13096-992A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371487
chr1:39371516 G
G
 A
A
 1 a0038c0054t0002g0178
a0038c0054t0002g0178
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.13096-963G>A
c.13096-963G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371516
chr1:39371535 A
A
 G
G
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.13096-944A>G
c.13096-944A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371535
chr1:39371536 A
A
 T
T
 21 a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
others(18): Show 
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0049c0067t0001g0116
a0050c0069t0001g0123
 21 HG00544.hp1
HG00741.hp1
HG01099.hp2
others(18): Show 
HG00544.hp1
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02074.hp2
HG02129.hp1
HG02273.hp2
HG03490.hp1
NA18943.hp2
NA18960.hp2
NA18990.hp2
NA18999.hp2
NA19011.hp1
NA19083.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13096-943A>T
c.13096-943A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371536
chr1:39371612 C
C
 T
T
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.13096-867C>T
c.13096-867C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371612
chr1:39371672 T
T
 C
C
 128 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(125): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 128 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(125): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13096-807T>C
c.13096-807T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371672
chr1:39371816 C
C
 CT
CT
 52 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(49): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0240
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0029c0061t0003g0232
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03195.hp2
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.13096-648dupT
c.13096-648dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 INFO_REALIGN_3_PRIME chr1 39371816
chr1:39371934 G
G
 A
A
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.13096-545G>A
c.13096-545G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371934
chr1:39371955 G
G
 A
A
 153 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(150): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13096-524G>A
c.13096-524G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39371955
chr1:39371980 A
A
 AT
AT
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13096-489dupT
c.13096-489dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 INFO_REALIGN_3_PRIME chr1 39371980
chr1:39372103 A
A
 G
G
 2 a0016c0026t0001g0173
a0016c0026t0001g0174
a0016c0026t0001g0173
a0016c0026t0001g0174
 2 HG02040.hp2
NA18966.hp1
HG02040.hp2
NA18966.hp1
 intron_variant MODIFIER c.13096-376A>G
c.13096-376A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39372103
chr1:39372354 A
A
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.13096-125A>C
c.13096-125A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39372354
chr1:39372357 A
A
 G
G
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.13096-122A>G
c.13096-122A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39372357
chr1:39372376 T
T
 C
C
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.13096-103T>C
c.13096-103T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 51/100 chr1 39372376
chr1:39372669 A
A
 G
G
 1 a0001c0018t0002g0047
a0001c0018t0002g0047
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.13213+73A>G
c.13213+73A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39372669
chr1:39372955 G
G
 A
A
 5 a0004c0019t0001g0050
a0009c0014t0001g0190
a0009c0014t0009g0192
others(2): Show 
a0004c0019t0001g0050
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 5 HG01069.hp2
HG02683.hp2
HG03041.hp1
others(2): Show 
HG01069.hp2
HG02683.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.13213+359G>A
c.13213+359G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39372955
chr1:39373004 C
C
 G
G
 5 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(2): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
 5 HG02976.hp1
HG03098.hp2
HG03471.hp1
others(2): Show 
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
 intron_variant MODIFIER c.13213+408C>G
c.13213+408C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373004
chr1:39373082 G
G
 A
A
 1 a0001c0012t0001g0059
a0001c0012t0001g0059
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.13213+486G>A
c.13213+486G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373082
chr1:39373123 G
G
 A
A
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.13213+527G>A
c.13213+527G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373123
chr1:39373225 G
G
 A
A
 1 a0025c0030t0001g0067
a0025c0030t0001g0067
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.13213+629G>A
c.13213+629G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373225
chr1:39373296 C
C
 CA
CA
 9 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(6): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0011c0013t0001g0076
 9 HG01069.hp2
HG02486.hp1
HG02886.hp2
others(6): Show 
HG01069.hp2
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.13213+715dupA
c.13213+715dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373296
chr1:39373393 T
T
 G
G
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.13213+797T>G
c.13213+797T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373393
chr1:39373419 C
C
 T
T
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.13213+823C>T
c.13213+823C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373419
chr1:39373444 G
G
 A
A
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.13213+848G>A
c.13213+848G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373444
chr1:39373473 G
G
 GA
GA
 18 a0001c0001t0001g0017
a0001c0001t0001g0038
a0001c0001t0001g0070
others(15): Show 
a0001c0001t0001g0017
a0001c0001t0001g0038
a0001c0001t0001g0070
a0001c0001t0001g0094
a0001c0036t0002g0035
a0001c0062t0001g0006
a0004c0006t0001g0049
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0008c0010t0003g0220
a0011c0013t0001g0079
a0017c0020t0001g0085
a0024c0076t0003g0222
a0032c0043t0001g0064
a0041c0033t0001g0055
 18 HG01081.hp2
HG01106.hp2
HG02074.hp1
others(15): Show 
HG01081.hp2
HG01106.hp2
HG02074.hp1
HG02486.hp2
HG02572.hp1
HG02647.hp2
HG02738.hp2
HG03098.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03704.hp2
NA18906.hp1
NA18988.hp1
NA18995.hp1
NA19002.hp1
NA19030.hp2
NA21309.hp1
 intron_variant MODIFIER c.13213+905dupA
c.13213+905dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373473
chr1:39373473 G
G
 GAA
GAA
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 6 HG01243.hp1
HG02055.hp2
HG02280.hp1
others(3): Show 
HG01243.hp1
HG02055.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.13213+904_13213+90
others(6): Show 
c.13213+904_13213+905dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373473
chr1:39373473 GA
GA
 G
G
 32 a0001c0001t0001g0031
a0002c0004t0001g0010
a0002c0004t0001g0011
others(29): Show 
a0001c0001t0001g0031
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0031c0059t0002g0177
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
a0044c0032t0001g0102
 32 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(29): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02015.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA18969.hp1
NA18986.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.13213+905delA
c.13213+905delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373473
chr1:39373473 GAAAAAAA
others(3): Show 
GAAAAAAAAAA
 G
G
 1 a0015c0022t0001g0005
a0015c0022t0001g0005
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.13213+896_13213+90
others(14): Show 
c.13213+896_13213+905delAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373473
chr1:39373473 GAAAAAAA
others(4): Show 
GAAAAAAAAAAA
 G
G
 1 a0003c0002t0001g0152
a0003c0002t0001g0152
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.13213+895_13213+90
others(15): Show 
c.13213+895_13213+905delAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373473
chr1:39373473 GAAAAAAA
others(5): Show 
GAAAAAAAAAAAA
 G
G
 50 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(47): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(47): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13213+894_13213+90
others(16): Show 
c.13213+894_13213+905delAAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373473
chr1:39373474 A
A
 G
G
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.13213+878A>G
c.13213+878A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373474
chr1:39373475 A
A
 G
G
 3 a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
 3 HG01069.hp2
HG03041.hp1
HG03130.hp2
HG01069.hp2
HG03041.hp1
HG03130.hp2
 intron_variant MODIFIER c.13213+879A>G
c.13213+879A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373475
chr1:39373757 G
G
 T
T
 3 a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
 3 HG02071.hp2
NA18971.hp1
NA18987.hp2
HG02071.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.13213+1161G>T
c.13213+1161G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373757
chr1:39373852 CA
CA
 C
C
 7 a0001c0001t0002g0032
a0001c0018t0002g0036
a0001c0018t0002g0047
others(4): Show 
a0001c0001t0002g0032
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0003c0002t0001g0114
a0004c0038t0001g0084
a0015c0022t0001g0005
 7 HG00544.hp2
HG00609.hp2
HG02135.hp1
others(4): Show 
HG00544.hp2
HG00609.hp2
HG02135.hp1
HG03490.hp2
NA18522.hp2
NA18995.hp1
NA18995.hp2
 intron_variant MODIFIER c.13213+1271delA
c.13213+1271delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39373852
chr1:39373884 G
G
 A
A
 1 a0001c0034t0001g0090
a0001c0034t0001g0090
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.13213+1288G>A
c.13213+1288G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39373884
chr1:39374470 T
T
 C
C
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.13213+1874T>C
c.13213+1874T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39374470
chr1:39374632 C
C
 G
G
 47 a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
others(44): Show 
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 47 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(44): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13213+2036C>G
c.13213+2036C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39374632
chr1:39374682 G
G
 C
C
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.13213+2086G>C
c.13213+2086G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39374682
chr1:39374805 C
C
 T
T
 1 a0006c0005t0001g0236
a0006c0005t0001g0236
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.13213+2209C>T
c.13213+2209C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39374805
chr1:39374832 C
C
 T
T
 7 a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
others(4): Show 
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0244
a0030c0060t0001g0241
 7 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(4): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13213+2236C>T
c.13213+2236C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39374832
chr1:39374837 G
G
 C
C
 2 a0017c0020t0001g0085
a0017c0020t0001g0086
a0017c0020t0001g0085
a0017c0020t0001g0086
 2 HG01433.hp1
HG02738.hp2
HG01433.hp1
HG02738.hp2
 intron_variant MODIFIER c.13213+2241G>C
c.13213+2241G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39374837
chr1:39375015 C
C
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.13213+2419C>A
c.13213+2419C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375015
chr1:39375031 A
A
 ACC
ACC
 77 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(74): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0053c0077t0001g0020
 77 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(74): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13213+2437_13213+2
others(8): Show 
c.13213+2437_13213+2438dupCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 INFO_REALIGN_3_PRIME chr1 39375031
chr1:39375039 G
G
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13213+2443G>A
c.13213+2443G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375039
chr1:39375064 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13213+2468C>T
c.13213+2468C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375064
chr1:39375096 C
C
 T
T
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13213+2500C>T
c.13213+2500C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375096
chr1:39375332 C
C
 T
T
 8 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(5): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
 8 HG00639.hp2
HG01884.hp1
HG02647.hp1
others(5): Show 
HG00639.hp2
HG01884.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.13213+2736C>T
c.13213+2736C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375332
chr1:39375365 G
G
 A
A
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.13213+2769G>A
c.13213+2769G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375365
chr1:39375830 C
C
 T
T
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.13214-2631C>T
c.13214-2631C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375830
chr1:39375841 G
G
 A
A
 25 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(22): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 25 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(22): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.13214-2620G>A
c.13214-2620G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375841
chr1:39375944 C
C
 T
T
 1 a0019c0028t0001g0132
a0019c0028t0001g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.13214-2517C>T
c.13214-2517C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375944
chr1:39375959 G
G
 A
A
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.13214-2502G>A
c.13214-2502G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39375959
chr1:39376119 T
T
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.13214-2342T>C
c.13214-2342T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376119
chr1:39376166 T
T
 A
A
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.13214-2295T>A
c.13214-2295T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376166
chr1:39376411 G
G
 A
A
 4 a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
others(1): Show 
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
 4 HG00140.hp1
HG00280.hp2
HG01099.hp1
others(1): Show 
HG00140.hp1
HG00280.hp2
HG01099.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.13214-2050G>A
c.13214-2050G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376411
chr1:39376463 C
C
 G
G
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.13214-1998C>G
c.13214-1998C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376463
chr1:39376771 G
G
 A
A
 130 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(127): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 130 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(127): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13214-1690G>A
c.13214-1690G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376771
chr1:39376889 T
T
 A
A
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.13214-1572T>A
c.13214-1572T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376889
chr1:39376897 A
A
 T
T
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.13214-1564A>T
c.13214-1564A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376897
chr1:39376980 G
G
 A
A
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.13214-1481G>A
c.13214-1481G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39376980
chr1:39377018 G
G
 T
T
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13214-1443G>T
c.13214-1443G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377018
chr1:39377066 G
G
 A
A
 25 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(22): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0030c0060t0001g0241
a0036c0048t0001g0008
a0037c0058t0001g0245
a0043c0057t0001g0168
 25 HG01106.hp1
HG01243.hp1
HG01243.hp2
others(22): Show 
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA19030.hp1
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.13214-1395G>A
c.13214-1395G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377066
chr1:39377111 A
A
 G
G
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.13214-1350A>G
c.13214-1350A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377111
chr1:39377156 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.13214-1305G>A
c.13214-1305G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377156
chr1:39377160 G
G
 A
A
 1 a0005c0009t0003g0217
a0005c0009t0003g0217
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.13214-1301G>A
c.13214-1301G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377160
chr1:39377421 G
G
 C
C
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.13214-1040G>C
c.13214-1040G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377421
chr1:39377601 T
T
 G
G
 1 a0004c0011t0003g0170
a0004c0011t0003g0170
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.13214-860T>G
c.13214-860T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377601
chr1:39377659 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13214-802C>T
c.13214-802C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377659
chr1:39377727 G
G
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13214-734G>C
c.13214-734G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377727
chr1:39377733 G
G
 T
T
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.13214-728G>T
c.13214-728G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377733
chr1:39377797 A
A
 C
C
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.13214-664A>C
c.13214-664A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377797
chr1:39377926 C
C
 T
T
 1 a0001c0036t0002g0035
a0001c0036t0002g0035
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.13214-535C>T
c.13214-535C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39377926
chr1:39378071 G
G
 T
T
 1 a0032c0043t0001g0064
a0032c0043t0001g0064
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.13214-390G>T
c.13214-390G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39378071
chr1:39378077 G
G
 A
A
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.13214-384G>A
c.13214-384G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39378077
chr1:39378244 A
A
 G
G
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.13214-217A>G
c.13214-217A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39378244
chr1:39378286 G
G
 A
A
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13214-175G>A
c.13214-175G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39378286
chr1:39378301 A
A
 G
G
 3 a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0002g0088
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0002g0088
 3 HG00558.hp1
NA18990.hp1
NA19086.hp2
HG00558.hp1
NA18990.hp1
NA19086.hp2
 intron_variant MODIFIER c.13214-160A>G
c.13214-160A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39378301
chr1:39378356 C
C
 T
T
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.13214-105C>T
c.13214-105C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 52/100 chr1 39378356
chr1:39378913 C
C
 T
T
 1 a0044c0032t0001g0102
a0044c0032t0001g0102
 1 HG02015.hp2
HG02015.hp2
 intron_variant MODIFIER c.13277-290C>T
c.13277-290C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 53/100 chr1 39378913
chr1:39379036 T
T
 C
C
 207 a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0053
others(204): Show 
a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
a0053c0077t0001g0020
 207 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(204): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.13277-167T>C
c.13277-167T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 53/100 chr1 39379036
chr1:39379052 A
A
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.13277-151A>T
c.13277-151A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 53/100 chr1 39379052
chr1:39379597 C
C
 T
T
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.13518+153C>T
c.13518+153C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 54/100 chr1 39379597
chr1:39379624 T
T
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13518+180T>G
c.13518+180T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 54/100 chr1 39379624
chr1:39379928 G
G
 A
A
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.13519-316G>A
c.13519-316G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 54/100 chr1 39379928
chr1:39379950 A
A
 T
T
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.13519-294A>T
c.13519-294A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 54/100 chr1 39379950
chr1:39380059 A
A
 G
G
 1 a0003c0002t0001g0109
a0003c0002t0001g0109
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.13519-185A>G
c.13519-185A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 54/100 chr1 39380059
chr1:39380595 G
G
 A
A
 155 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(152): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 155 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(152): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13648+222G>A
c.13648+222G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39380595
chr1:39380621 G
G
 A
A
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.13648+248G>A
c.13648+248G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39380621
chr1:39380638 G
G
 A
A
 3 a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
 3 HG02071.hp2
NA18971.hp1
NA18987.hp2
HG02071.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.13648+265G>A
c.13648+265G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39380638
chr1:39380642 C
C
 T
T
 1 a0002c0015t0002g0112
a0002c0015t0002g0112
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.13648+269C>T
c.13648+269C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39380642
chr1:39380817 C
C
 T
T
 153 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(150): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13648+444C>T
c.13648+444C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39380817
chr1:39380918 A
A
 C
C
 51 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(48): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13648+545A>C
c.13648+545A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39380918
chr1:39380922 G
G
 A
A
 1 a0011c0013t0001g0078
a0011c0013t0001g0078
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.13648+549G>A
c.13648+549G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39380922
chr1:39381089 C
C
 T
T
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.13648+716C>T
c.13648+716C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381089
chr1:39381126 C
C
 T
T
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.13648+753C>T
c.13648+753C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381126
chr1:39381169 T
T
 C
C
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.13649-784T>C
c.13649-784T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381169
chr1:39381199 A
A
 C
C
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.13649-754A>C
c.13649-754A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381199
chr1:39381259 G
G
 T
T
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.13649-694G>T
c.13649-694G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381259
chr1:39381277 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.13649-676G>A
c.13649-676G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381277
chr1:39381338 T
T
 A
A
 46 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(43): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0053c0077t0001g0020
 46 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(43): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13649-615T>A
c.13649-615T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381338
chr1:39381339 G
G
 A
A
 46 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(43): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0053c0077t0001g0020
 46 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(43): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.13649-614G>A
c.13649-614G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381339
chr1:39381356 C
C
 CT
CT
 52 a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0030
others(49): Show 
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0080
a0001c0001t0001g0089
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0107
a0001c0001t0002g0032
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0012t0001g0058
a0001c0012t0001g0060
a0001c0018t0002g0036
a0001c0036t0002g0035
a0001c0041t0001g0072
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0024t0001g0203
a0002c0025t0001g0191
a0003c0002t0001g0109
a0004c0006t0001g0049
a0004c0019t0001g0052
a0005c0008t0001g0210
a0005c0008t0007g0166
a0005c0009t0003g0218
a0006c0005t0001g0237
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0082
a0009c0014t0009g0192
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0014c0021t0001g0227
a0017c0020t0001g0085
a0020c0075t0001g0211
a0032c0043t0001g0064
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0053c0077t0001g0020
 52 HG00140.hp2
HG00544.hp2
HG00597.hp2
others(49): Show 
HG00140.hp2
HG00544.hp2
HG00597.hp2
HG00735.hp1
HG00741.hp2
HG01106.hp1
HG01106.hp2
HG01243.hp1
HG01361.hp1
HG02074.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG03098.hp2
HG03486.hp1
HG03486.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
NA18906.hp2
NA18943.hp1
NA18980.hp1
NA18986.hp2
NA18987.hp2
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19010.hp1
NA19010.hp2
NA19080.hp2
 intron_variant MODIFIER c.13649-575dupT
c.13649-575dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 INFO_REALIGN_3_PRIME chr1 39381356
chr1:39381356 C
C
 CTT
CTT
 5 a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
others(2): Show 
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0022c0072t0001g0209
 5 HG00642.hp1
HG02109.hp2
HG02280.hp1
others(2): Show 
HG00642.hp1
HG02109.hp2
HG02280.hp1
HG02615.hp1
HG06807.hp1
 intron_variant MODIFIER c.13649-576_13649-57
others(6): Show 
c.13649-576_13649-575dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 INFO_REALIGN_3_PRIME chr1 39381356
chr1:39381365 T
T
 TC
TC
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.13649-588_13649-58
others(5): Show 
c.13649-588_13649-587insC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381365
chr1:39381366 T
T
 C
C
 4 a0015c0022t0001g0005
a0015c0022t0001g0007
a0036c0048t0001g0008
others(1): Show 
a0015c0022t0001g0005
a0015c0022t0001g0007
a0036c0048t0001g0008
a0037c0058t0001g0245
 4 HG01243.hp2
HG02572.hp2
NA18522.hp2
others(1): Show 
HG01243.hp2
HG02572.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.13649-587T>C
c.13649-587T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381366
chr1:39381378 T
T
 G
G
 26 a0001c0001t0002g0088
a0002c0003t0001g0186
a0002c0003t0001g0187
others(23): Show 
a0001c0001t0002g0088
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0188
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0175
a0013c0023t0001g0003
a0013c0023t0001g0004
a0016c0026t0001g0173
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
 26 HG00438.hp2
HG00558.hp1
HG00597.hp1
others(23): Show 
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG03453.hp2
HG03491.hp2
NA18953.hp2
NA18969.hp1
NA18983.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.13649-575T>G
c.13649-575T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381378
chr1:39381378 T
T
 TTG
TTG
 27 a0001c0001t0001g0091
a0001c0001t0001g0092
a0003c0002t0001g0114
others(24): Show 
a0001c0001t0001g0091
a0001c0001t0001g0092
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0064t0004g0133
a0018c0027t0001g0158
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
 27 HG00609.hp1
HG00733.hp2
HG01433.hp2
others(24): Show 
HG00609.hp1
HG00733.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02015.hp1
HG02055.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp1
HG02273.hp2
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18995.hp2
NA19011.hp1
NA19084.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.13649-575_13649-57
others(6): Show 
c.13649-575_13649-574insTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381378
chr1:39381378 T
T
 TTGG
TTGG
 5 a0003c0002t0001g0124
a0003c0002t0001g0147
a0003c0002t0001g0159
others(2): Show 
a0003c0002t0001g0124
a0003c0002t0001g0147
a0003c0002t0001g0159
a0019c0028t0001g0130
a0019c0028t0001g0132
 5 HG00639.hp1
HG01261.hp1
HG02683.hp1
others(2): Show 
HG00639.hp1
HG01261.hp1
HG02683.hp1
HG02738.hp1
NA18980.hp2
 intron_variant MODIFIER c.13649-575_13649-57
others(7): Show 
c.13649-575_13649-574insTGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381378
chr1:39381378 T
T
 TTTG
TTTG
 15 a0003c0002t0001g0122
a0003c0002t0001g0126
a0003c0002t0001g0128
others(12): Show 
a0003c0002t0001g0122
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0134
a0003c0002t0001g0146
a0003c0002t0001g0150
a0003c0002t0001g0153
a0003c0002t0001g0155
a0003c0002t0001g0160
a0003c0002t0002g0137
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0018c0027t0001g0157
a0050c0069t0001g0123
 15 HG00280.hp1
HG00558.hp2
HG00741.hp1
others(12): Show 
HG00280.hp1
HG00558.hp2
HG00741.hp1
HG01099.hp2
HG01361.hp2
HG02004.hp1
HG02074.hp2
HG02165.hp1
HG02523.hp2
NA18942.hp1
NA18943.hp2
NA18990.hp2
NA18999.hp2
NA19000.hp2
NA19085.hp2
 intron_variant MODIFIER c.13649-575_13649-57
others(7): Show 
c.13649-575_13649-574insTTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381378
chr1:39381381 G
G
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.13649-572G>C
c.13649-572G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381381
chr1:39381381 G
G
 T
T
 9 a0003c0002t0001g0135
a0004c0011t0003g0167
a0004c0011t0003g0169
others(6): Show 
a0003c0002t0001g0135
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
a0048c0065t0001g0141
 9 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(6): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02135.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
NA19084.hp1
 intron_variant MODIFIER c.13649-572G>T
c.13649-572G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381381
chr1:39381384 G
G
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.13649-569G>C
c.13649-569G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381384
chr1:39381384 G
G
 T
T
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.13649-569G>T
c.13649-569G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381384
chr1:39381727 C
C
 T
T
 1 a0001c0034t0001g0090
a0001c0034t0001g0090
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.13649-226C>T
c.13649-226C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381727
chr1:39381756 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.13649-197G>A
c.13649-197G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381756
chr1:39381878 T
T
 C
C
 1 a0003c0002t0001g0146
a0003c0002t0001g0146
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.13649-75T>C
c.13649-75T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 55/100 chr1 39381878
chr1:39382342 T
T
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.13848+190T>C
c.13848+190T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382342
chr1:39382370 A
A
 G
G
 1 a0002c0003t0002g0230
a0002c0003t0002g0230
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.13848+218A>G
c.13848+218A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382370
chr1:39382489 G
G
 A
A
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.13848+337G>A
c.13848+337G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382489
chr1:39382656 C
C
 CG
CG
 28 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(25): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0126
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 28 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(25): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.13848+506dupG
c.13848+506dupG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 INFO_REALIGN_3_PRIME chr1 39382656
chr1:39382675 C
C
 G
G
 51 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(48): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 51 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(48): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.13848+523C>G
c.13848+523C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382675
chr1:39382681 C
C
 CA
CA
 12 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(9): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0002t0001g0119
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0017c0020t0001g0085
a0036c0048t0001g0008
a0040c0051t0001g0205
 12 HG01069.hp2
HG02486.hp1
HG02738.hp2
others(9): Show 
HG01069.hp2
HG02486.hp1
HG02738.hp2
HG02886.hp2
HG02922.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
NA19010.hp1
NA19030.hp1
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.13848+543dupA
c.13848+543dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 INFO_REALIGN_3_PRIME chr1 39382681
chr1:39382689 A
A
 AG
AG
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 24 HG00639.hp2
HG00642.hp1
HG01884.hp1
others(21): Show 
HG00639.hp2
HG00642.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.13848+537_13848+53
others(5): Show 
c.13848+537_13848+538insG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382689
chr1:39382695 A
A
 AT
AT
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.13848+552dupT
c.13848+552dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 INFO_REALIGN_3_PRIME chr1 39382695
chr1:39382695 A
A
 T
T
 28 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(25): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0126
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 28 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(25): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.13848+543A>T
c.13848+543A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382695
chr1:39382733 CATTACTT
others(1): Show 
CATTACTTA
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13848+584_13848+59
others(12): Show 
c.13848+584_13848+591delTACTTAAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 INFO_REALIGN_3_PRIME chr1 39382733
chr1:39382750 T
T
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.13848+598T>C
c.13848+598T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382750
chr1:39382885 C
C
 T
T
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.13848+733C>T
c.13848+733C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39382885
chr1:39383047 C
C
 T
T
 28 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(25): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0126
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 28 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(25): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.13848+895C>T
c.13848+895C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383047
chr1:39383219 A
A
 G
G
 1 a0003c0002t0001g0118
a0003c0002t0001g0118
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.13848+1067A>G
c.13848+1067A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383219
chr1:39383269 T
T
 C
C
 28 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(25): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0126
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 28 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(25): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.13848+1117T>C
c.13848+1117T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383269
chr1:39383329 A
A
 G
G
 4 a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
others(1): Show 
a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
 4 HG02074.hp1
NA18942.hp2
NA18969.hp2
others(1): Show 
HG02074.hp1
NA18942.hp2
NA18969.hp2
NA18973.hp1
 intron_variant MODIFIER c.13848+1177A>G
c.13848+1177A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383329
chr1:39383353 G
G
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.13848+1201G>A
c.13848+1201G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383353
chr1:39383356 A
A
 C
C
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.13848+1204A>C
c.13848+1204A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383356
chr1:39383480 A
A
 G
G
 1 a0002c0004t0001g0197
a0002c0004t0001g0197
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.13848+1328A>G
c.13848+1328A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383480
chr1:39383687 C
C
 G
G
 1 a0002c0003t0002g0093
a0002c0003t0002g0093
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.13848+1535C>G
c.13848+1535C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383687
chr1:39383702 C
C
 T
T
 2 a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0048
a0001c0001t0001g0070
 2 HG01081.hp2
HG01981.hp1
HG01081.hp2
HG01981.hp1
 intron_variant MODIFIER c.13848+1550C>T
c.13848+1550C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383702
chr1:39383808 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13849-1626C>T
c.13849-1626C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383808
chr1:39383829 A
A
 T
T
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.13849-1605A>T
c.13849-1605A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39383829
chr1:39384143 G
G
 A
A
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.13849-1291G>A
c.13849-1291G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39384143
chr1:39384444 C
C
 T
T
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.13849-990C>T
c.13849-990C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39384444
chr1:39384722 T
T
 G
G
 1 a0002c0003t0002g0181
a0002c0003t0002g0181
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.13849-712T>G
c.13849-712T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39384722
chr1:39384914 G
G
 A
A
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 24 HG00639.hp2
HG00642.hp1
HG01884.hp1
others(21): Show 
HG00639.hp2
HG00642.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.13849-520G>A
c.13849-520G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39384914
chr1:39384933 C
C
 T
T
 2 a0001c0001t0001g0030
a0001c0001t0001g0099
a0001c0001t0001g0030
a0001c0001t0001g0099
 2 HG00735.hp1
HG03491.hp1
HG00735.hp1
HG03491.hp1
 intron_variant MODIFIER c.13849-501C>T
c.13849-501C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39384933
chr1:39385069 C
C
 T
T
 2 a0003c0002t0001g0128
a0047c0068t0001g0129
a0003c0002t0001g0128
a0047c0068t0001g0129
 2 NA18942.hp1
NA18971.hp2
NA18942.hp1
NA18971.hp2
 intron_variant MODIFIER c.13849-365C>T
c.13849-365C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39385069
chr1:39385110 C
C
 T
T
 17 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(14): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0053c0077t0001g0020
 17 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(14): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.13849-324C>T
c.13849-324C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39385110
chr1:39385152 C
C
 T
T
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.13849-282C>T
c.13849-282C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39385152
chr1:39385249 G
G
 A
A
 1 a0002c0004t0001g0196
a0002c0004t0001g0196
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.13849-185G>A
c.13849-185G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39385249
chr1:39385337 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.13849-97C>T
c.13849-97C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 56/100 chr1 39385337
chr1:39386107 A
A
 C
C
 2 a0006c0005t0001g0236
a0006c0005t0001g0244
a0006c0005t0001g0236
a0006c0005t0001g0244
 2 HG04115.hp1
HG04204.hp1
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.14344+178A>C
c.14344+178A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386107
chr1:39386132 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.14344+203A>G
c.14344+203A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386132
chr1:39386185 G
G
 T
T
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.14344+256G>T
c.14344+256G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386185
chr1:39386241 C
C
 G
G
 78 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(75): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0126
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0053c0077t0001g0020
 78 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(75): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.14344+312C>G
c.14344+312C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386241
chr1:39386245 C
C
 CT
CT
 131 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(128): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0062
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 131 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(128): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.14344+331dupT
c.14344+331dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 INFO_REALIGN_3_PRIME chr1 39386245
chr1:39386245 C
C
 CTT
CTT
 17 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(14): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0007g0166
a0033c0053t0001g0200
a0042c0052t0001g0201
 17 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(14): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.14344+330_14344+33
others(6): Show 
c.14344+330_14344+331dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 INFO_REALIGN_3_PRIME chr1 39386245
chr1:39386274 C
C
 CCA
CCA
 17 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(14): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0007g0166
a0033c0053t0001g0200
a0042c0052t0001g0201
 17 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(14): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.14344+355_14344+35
others(6): Show 
c.14344+355_14344+356dupAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 INFO_REALIGN_3_PRIME chr1 39386274
chr1:39386410 G
G
 A
A
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.14344+481G>A
c.14344+481G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386410
chr1:39386427 AT
AT
 A
A
 5 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(2): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
 5 HG02976.hp1
HG03098.hp2
HG03471.hp1
others(2): Show 
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
 intron_variant MODIFIER c.14344+507delT
c.14344+507delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 INFO_REALIGN_3_PRIME chr1 39386427
chr1:39386437 CT
CT
 C
C
 130 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(127): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 130 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(127): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.14344+520delT
c.14344+520delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 INFO_REALIGN_3_PRIME chr1 39386437
chr1:39386470 T
T
 C
C
 154 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(151): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 154 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(151): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.14344+541T>C
c.14344+541T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386470
chr1:39386795 G
G
 A
A
 1 a0004c0038t0001g0084
a0004c0038t0001g0084
 1 HG03490.hp2
HG03490.hp2
 intron_variant MODIFIER c.14345-392G>A
c.14345-392G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386795
chr1:39386853 C
C
 G
G
 1 a0002c0003t0001g0187
a0002c0003t0001g0187
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.14345-334C>G
c.14345-334C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 57/100 chr1 39386853
chr1:39388777 A
A
 G
G
 2 a0015c0022t0001g0005
a0015c0022t0001g0007
a0015c0022t0001g0005
a0015c0022t0001g0007
 2 HG02572.hp2
NA18522.hp2
HG02572.hp2
NA18522.hp2
 intron_variant MODIFIER c.15816+119A>G
c.15816+119A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39388777
chr1:39388815 C
C
 T
T
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.15816+157C>T
c.15816+157C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39388815
chr1:39388842 ATTTTTC
ATTTTTC
 A
A
 20 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0002g0044
others(17): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0002g0044
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 20 HG00597.hp1
HG01109.hp2
HG01884.hp2
others(17): Show 
HG00597.hp1
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15816+199_15816+20
others(10): Show 
c.15816+199_15816+204delTTTCTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39388842
chr1:39388857 T
T
 C
C
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+199T>C
c.15816+199T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39388857
chr1:39388866 CTTCTTCT
CTTCTTCT
 C
C
 24 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
others(21): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 24 HG00438.hp2
HG01081.hp1
HG01167.hp2
others(21): Show 
HG00438.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+211_15816+21
others(11): Show 
c.15816+211_15816+217delCTTCTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39388866
chr1:39388872 C
C
 CT
CT
 48 a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0091
others(45): Show 
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0091
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0040t0001g0014
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0003c0002t0001g0148
a0003c0002t0001g0156
a0004c0006t0001g0049
a0004c0006t0001g0062
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0030c0060t0001g0241
a0033c0053t0001g0200
a0037c0058t0001g0245
a0040c0051t0001g0205
a0042c0052t0001g0201
 48 HG00438.hp1
HG00639.hp2
HG01069.hp2
others(45): Show 
HG00438.hp1
HG00639.hp2
HG01069.hp2
HG01106.hp1
HG01109.hp1
HG01243.hp2
HG01884.hp1
HG02040.hp1
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18943.hp1
NA18975.hp2
NA18981.hp2
NA19010.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.15816+238dupT
c.15816+238dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39388872
chr1:39388872 C
C
 CTT
CTT
 14 a0001c0001t0001g0103
a0002c0004t0001g0009
a0002c0004t0001g0010
others(11): Show 
a0001c0001t0001g0103
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0025t0001g0191
a0003c0002t0001g0155
a0005c0008t0001g0207
a0006c0005t0001g0236
a0006c0005t0001g0243
a0006c0005t0001g0244
a0026c0049t0001g0002
a0036c0048t0001g0008
 14 HG00280.hp1
HG00642.hp1
HG02145.hp2
others(11): Show 
HG00280.hp1
HG00642.hp1
HG02145.hp2
HG02486.hp1
HG02602.hp2
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG04115.hp1
HG04204.hp1
NA19000.hp1
NA19030.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+237_15816+23
others(6): Show 
c.15816+237_15816+238dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39388872
chr1:39388872 C
C
 T
T
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.15816+214C>T
c.15816+214C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39388872
chr1:39388872 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+229_15816+23
others(14): Show 
c.15816+229_15816+238delTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39388872
chr1:39388886 T
T
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.15816+228T>C
c.15816+228T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39388886
chr1:39388905 GTCTC
GTCTC
 G
G
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15816+256_15816+25
others(8): Show 
c.15816+256_15816+259delTCTC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39388905
chr1:39388930 G
G
 A
A
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.15816+272G>A
c.15816+272G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39388930
chr1:39388942 G
G
 A
A
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.15816+284G>A
c.15816+284G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39388942
chr1:39389342 T
T
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15816+684T>G
c.15816+684T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39389342
chr1:39389351 G
G
 GT
GT
 68 a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0023
others(65): Show 
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0030
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0045
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0096
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0088
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0110
a0003c0002t0001g0111
a0004c0006t0001g0069
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0243
a0007c0007t0002g0057
a0010c0016t0004g0140
a0011c0013t0001g0076
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0026c0049t0001g0002
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0039c0042t0001g0021
a0044c0032t0001g0102
 68 HG00558.hp1
HG00558.hp2
HG00597.hp1
others(65): Show 
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00642.hp2
HG00735.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01261.hp2
HG01346.hp2
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp1
HG02155.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02723.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG04204.hp1
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18962.hp1
NA18962.hp2
NA18969.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA19000.hp1
NA19002.hp2
NA19010.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.15816+718dupT
c.15816+718dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39389351
chr1:39389351 G
G
 GTT
GTT
 52 a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0041
others(49): Show 
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0037t0001g0095
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0015t0002g0172
a0003c0002t0001g0109
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0139
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0151
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0005c0008t0007g0166
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0037c0058t0001g0245
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0048c0065t0001g0141
 52 HG00280.hp1
HG00544.hp1
HG00609.hp1
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01243.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp1
HG01952.hp2
HG02055.hp2
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp2
HG02523.hp2
HG02572.hp1
HG02615.hp2
HG02683.hp1
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG03239.hp2
HG03490.hp1
HG03927.hp2
HG04115.hp1
HG06807.hp1
NA18939.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp1
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18986.hp2
NA18990.hp1
NA19002.hp1
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp2
NA19091.hp1
 intron_variant MODIFIER c.15816+717_15816+71
others(6): Show 
c.15816+717_15816+718dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39389351
chr1:39389351 G
G
 GTTT
GTTT
 21 a0001c0001t0001g0080
a0002c0004t0001g0199
a0002c0004t0001g0204
others(18): Show 
a0001c0001t0001g0080
a0002c0004t0001g0199
a0002c0004t0001g0204
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0124
a0003c0002t0001g0128
a0003c0002t0001g0134
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0153
a0003c0002t0001g0160
a0003c0002t0002g0137
a0009c0014t0010g0225
a0009c0047t0001g0189
a0033c0053t0001g0200
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 21 HG01069.hp2
HG01261.hp1
HG01361.hp2
others(18): Show 
HG01069.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01981.hp2
HG02004.hp1
HG02717.hp1
HG02738.hp1
HG02818.hp1
HG03041.hp1
HG03540.hp1
HG03540.hp2
HG03927.hp1
NA18942.hp1
NA18943.hp2
NA18971.hp2
NA18990.hp2
NA18999.hp2
NA19000.hp2
NA19083.hp2
NA19088.hp1
 intron_variant MODIFIER c.15816+716_15816+71
others(7): Show 
c.15816+716_15816+718dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39389351
chr1:39389351 G
G
 GTTTT
GTTTT
 7 a0003c0002t0001g0114
a0003c0002t0001g0138
a0003c0002t0001g0152
others(4): Show 
a0003c0002t0001g0114
a0003c0002t0001g0138
a0003c0002t0001g0152
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0009c0014t0001g0190
 7 HG02965.hp2
HG03130.hp2
NA18966.hp2
others(4): Show 
HG02965.hp2
HG03130.hp2
NA18966.hp2
NA18974.hp1
NA18995.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+715_15816+71
others(8): Show 
c.15816+715_15816+718dupTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39389351
chr1:39389351 G
G
 T
T
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.15816+693G>T
c.15816+693G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39389351
chr1:39389351 GTTTTT
GTTTTT
 G
G
 10 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(7): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
 10 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(7): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03471.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.15816+714_15816+71
others(9): Show 
c.15816+714_15816+718delTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39389351
chr1:39389351 GTTTTTTT
others(2): Show 
GTTTTTTTTT
 G
G
 16 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(13): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0008c0010t0001g0208
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
 16 HG01884.hp2
HG02071.hp2
HG02965.hp1
others(13): Show 
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15816+710_15816+71
others(13): Show 
c.15816+710_15816+718delTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39389351
chr1:39389351 GTTTTTTT
others(5): Show 
GTTTTTTTTTTTT
 G
G
 1 a0001c0018t0002g0047
a0001c0018t0002g0047
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.15816+707_15816+71
others(16): Show 
c.15816+707_15816+718delTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39389351
chr1:39389353 T
T
 G
G
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.15816+695T>G
c.15816+695T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39389353
chr1:39389416 G
G
 A
A
 14 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
others(11): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0037t0001g0095
a0001c0041t0001g0072
a0032c0043t0001g0064
a0044c0032t0001g0102
 14 HG00140.hp2
HG00741.hp2
HG01261.hp2
others(11): Show 
HG00140.hp2
HG00741.hp2
HG01261.hp2
HG02015.hp2
HG02040.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp1
HG03704.hp2
HG03927.hp1
NA18943.hp1
NA18980.hp1
NA19000.hp1
NA21309.hp2
 intron_variant MODIFIER c.15816+758G>A
c.15816+758G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39389416
chr1:39389505 G
G
 A
A
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+847G>A
c.15816+847G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39389505
chr1:39389847 A
A
 G
G
 2 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0091
a0001c0001t0001g0092
 2 HG02055.hp1
HG02145.hp1
HG02055.hp1
HG02145.hp1
 intron_variant MODIFIER c.15816+1189A>G
c.15816+1189A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39389847
chr1:39389963 G
G
 A
A
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.15816+1305G>A
c.15816+1305G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39389963
chr1:39390091 A
A
 G
G
 1 a0045c0070t0001g0144
a0045c0070t0001g0144
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.15816+1433A>G
c.15816+1433A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39390091
chr1:39390292 A
A
 G
G
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.15816+1634A>G
c.15816+1634A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39390292
chr1:39390384 G
G
 A
A
 29 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(26): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 29 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(26): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+1726G>A
c.15816+1726G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39390384
chr1:39390573 C
C
 T
T
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+1915C>T
c.15816+1915C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39390573
chr1:39391110 C
C
 CA
CA
 36 a0001c0001t0001g0092
a0001c0001t0001g0103
a0001c0001t0002g0032
others(33): Show 
a0001c0001t0001g0092
a0001c0001t0001g0103
a0001c0001t0002g0032
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 36 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(33): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19000.hp1
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+2465dupA
c.15816+2465dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39391110
chr1:39391406 G
G
 A
A
 1 a0006c0005t0001g0236
a0006c0005t0001g0236
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.15816+2748G>A
c.15816+2748G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39391406
chr1:39391426 G
G
 C
C
 1 a0002c0003t0002g0113
a0002c0003t0002g0113
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.15816+2768G>C
c.15816+2768G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39391426
chr1:39391520 G
G
 A
A
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+2862G>A
c.15816+2862G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39391520
chr1:39391546 CA
CA
 C
C
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.15816+2889delA
c.15816+2889delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39391546
chr1:39391627 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+2969A>G
c.15816+2969A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39391627
chr1:39391804 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+3146A>G
c.15816+3146A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39391804
chr1:39392246 T
T
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+3588T>A
c.15816+3588T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39392246
chr1:39392247 C
C
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+3589C>A
c.15816+3589C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39392247
chr1:39392278 C
C
 T
T
 2 a0017c0020t0001g0085
a0017c0020t0001g0086
a0017c0020t0001g0085
a0017c0020t0001g0086
 2 HG01433.hp1
HG02738.hp2
HG01433.hp1
HG02738.hp2
 intron_variant MODIFIER c.15816+3620C>T
c.15816+3620C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39392278
chr1:39392626 A
A
 G
G
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.15816+3968A>G
c.15816+3968A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39392626
chr1:39392662 C
C
 T
T
 3 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
 3 HG02055.hp1
HG02145.hp1
HG03195.hp1
HG02055.hp1
HG02145.hp1
HG03195.hp1
 intron_variant MODIFIER c.15816+4004C>T
c.15816+4004C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39392662
chr1:39392826 A
A
 T
T
 207 a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0051
others(204): Show 
a0001c0001t0001g0018
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
a0053c0077t0001g0020
 207 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(204): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.15816+4168A>T
c.15816+4168A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39392826
chr1:39393101 G
G
 A
A
 1 a0003c0002t0001g0142
a0003c0002t0001g0142
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.15816+4443G>A
c.15816+4443G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393101
chr1:39393122 G
G
 C
C
 156 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(153): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 156 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(153): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+4464G>C
c.15816+4464G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393122
chr1:39393181 T
T
 TAA
TAA
 7 a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
others(4): Show 
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0037
a0001c0001t0006g0066
a0017c0020t0001g0085
 7 HG02040.hp1
HG02738.hp2
NA18943.hp1
others(4): Show 
HG02040.hp1
HG02738.hp2
NA18943.hp1
NA18980.hp1
NA18999.hp1
NA19000.hp1
NA21309.hp2
 intron_variant MODIFIER c.15816+4538_15816+4
others(8): Show 
c.15816+4538_15816+4539dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393181
chr1:39393182 A
A
 T
T
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.15816+4524A>T
c.15816+4524A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393182
chr1:39393188 A
A
 ATATATAT
others(6): Show 
ATATATATATATAT
 1 a0004c0011t0003g0171
a0004c0011t0003g0171
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.15816+4530_15816+4
others(19): Show 
c.15816+4530_15816+4531insTATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393188
chr1:39393189 AAAAAAAA
others(6): Show 
AAAAAAAAATATAT
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.15816+4533_15816+4
others(19): Show 
c.15816+4533_15816+4545delAAAAAAATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393189
chr1:39393190 A
A
 AATATATA
others(3): Show 
AATATATATAT
 1 a0026c0049t0001g0002
a0026c0049t0001g0002
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.15816+4533_15816+4
others(16): Show 
c.15816+4533_15816+4534insTATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393190
chr1:39393190 A
A
 ATATATAT
others(4): Show 
ATATATATATAT
 2 a0004c0011t0003g0167
a0004c0011t0003g0170
a0004c0011t0003g0167
a0004c0011t0003g0170
 2 HG02055.hp2
HG02280.hp1
HG02055.hp2
HG02280.hp1
 intron_variant MODIFIER c.15816+4532_15816+4
others(17): Show 
c.15816+4532_15816+4533insTATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393190
chr1:39393190 A
A
 ATATATAT
others(6): Show 
ATATATATATATAT
 1 a0004c0011t0003g0169
a0004c0011t0003g0169
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+4532_15816+4
others(19): Show 
c.15816+4532_15816+4533insTATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393190
chr1:39393190 A
A
 T
T
 1 a0004c0011t0003g0171
a0004c0011t0003g0171
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.15816+4532A>T
c.15816+4532A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393190
chr1:39393192 A
A
 AATATATA
others(19): Show 
AATATATATATATATATATATATATAT
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.15816+4535_15816+4
others(32): Show 
c.15816+4535_15816+4536insTATATATATATATATATATATATA
TA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393192
chr1:39393192 A
A
 AATATATA
others(21): Show 
AATATATATATATATATATATATATATAT
 1 a0005c0008t0007g0166
a0005c0008t0007g0166
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.15816+4535_15816+4
others(34): Show 
c.15816+4535_15816+4536insTATATATATATATATATATATATA
TATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393192
chr1:39393192 A
A
 T
T
 8 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(5): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0037c0058t0001g0245
 8 HG01243.hp2
HG02055.hp2
HG02109.hp1
others(5): Show 
HG01243.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG03453.hp2
HG06807.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+4534A>T
c.15816+4534A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393192
chr1:39393193 AAAAAT
AAAAAT
 A
A
 5 a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0025t0001g0001
others(2): Show 
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0025t0001g0001
a0002c0025t0001g0191
a0024c0076t0003g0222
 5 HG02145.hp2
HG02717.hp1
HG03471.hp2
others(2): Show 
HG02145.hp2
HG02717.hp1
HG03471.hp2
HG03486.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+4537_15816+4
others(11): Show 
c.15816+4537_15816+4541delAAATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393193
chr1:39393194 A
A
 AAT
AAT
 14 a0001c0001t0002g0033
a0002c0003t0002g0044
a0002c0003t0002g0093
others(11): Show 
a0001c0001t0002g0033
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0003t0002g0181
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0038c0054t0002g0178
 14 HG00597.hp1
HG01346.hp2
HG02071.hp1
others(11): Show 
HG00597.hp1
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02165.hp2
NA18953.hp1
NA18962.hp2
NA18981.hp1
NA19002.hp2
NA19011.hp2
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+4537_15816+4
others(8): Show 
c.15816+4537_15816+4538insTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393194
chr1:39393194 A
A
 AATAT
AATAT
 15 a0001c0001t0002g0016
a0002c0003t0002g0180
a0002c0003t0002g0185
others(12): Show 
a0001c0001t0002g0016
a0002c0003t0002g0180
a0002c0003t0002g0185
a0003c0002t0001g0119
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0139
a0003c0002t0001g0148
a0003c0002t0001g0156
a0003c0066t0001g0117
a0010c0064t0004g0133
a0019c0028t0001g0130
a0019c0028t0001g0132
a0048c0065t0001g0141
 15 HG00544.hp1
HG00609.hp1
HG00639.hp1
others(12): Show 
HG00544.hp1
HG00609.hp1
HG00639.hp1
HG01167.hp2
HG02129.hp1
HG02135.hp2
HG02683.hp1
NA18939.hp2
NA18943.hp2
NA18960.hp2
NA18975.hp2
NA18986.hp1
NA19011.hp1
NA19083.hp1
NA19091.hp1
 intron_variant MODIFIER c.15816+4537_15816+4
others(10): Show 
c.15816+4537_15816+4538insTATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393194
chr1:39393194 A
A
 AATATAT
AATATAT
 5 a0003c0002t0001g0114
a0003c0002t0001g0143
a0003c0002t0001g0152
others(2): Show 
a0003c0002t0001g0114
a0003c0002t0001g0143
a0003c0002t0001g0152
a0003c0002t0001g0161
a0015c0022t0001g0005
 5 NA18522.hp2
NA18954.hp2
NA18974.hp1
others(2): Show 
NA18522.hp2
NA18954.hp2
NA18974.hp1
NA18995.hp2
NA19088.hp1
 intron_variant MODIFIER c.15816+4537_15816+4
others(12): Show 
c.15816+4537_15816+4538insTATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393194
chr1:39393194 A
A
 AATATATA
others(3): Show 
AATATATATAT
 1 a0018c0027t0001g0157
a0018c0027t0001g0157
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.15816+4537_15816+4
others(16): Show 
c.15816+4537_15816+4538insTATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393194
chr1:39393194 A
A
 AATATATA
others(21): Show 
AATATATATATATATATATATATATATAT
 1 a0005c0008t0001g0210
a0005c0008t0001g0210
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.15816+4537_15816+4
others(34): Show 
c.15816+4537_15816+4538insTATATATATATATATATATATATA
TATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393194
chr1:39393194 A
A
 T
T
 13 a0002c0003t0002g0231
a0004c0011t0003g0167
a0004c0011t0003g0169
others(10): Show 
a0002c0003t0002g0231
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0007g0166
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
a0045c0070t0001g0144
 13 HG00438.hp2
HG00642.hp1
HG00733.hp2
others(10): Show 
HG00438.hp2
HG00642.hp1
HG00733.hp2
HG01243.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG02895.hp1
HG03453.hp2
HG06807.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+4536A>T
c.15816+4536A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393194
chr1:39393194 AAAATAT
AAAATAT
 A
A
 11 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0215
others(8): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0220
a0008c0010t0003g0221
a0033c0053t0001g0200
a0053c0077t0001g0020
 11 HG01109.hp2
HG02071.hp2
HG02976.hp1
others(8): Show 
HG01109.hp2
HG02071.hp2
HG02976.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03540.hp1
HG03579.hp2
NA18971.hp1
NA18987.hp2
NA19043.hp2
 intron_variant MODIFIER c.15816+4538_15816+4
others(12): Show 
c.15816+4538_15816+4543delAATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393194
chr1:39393195 AAATAT
AAATAT
 A
A
 15 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(12): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0005c0009t0003g0218
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0042c0052t0001g0201
 15 HG00639.hp2
HG01884.hp1
HG01884.hp2
others(12): Show 
HG00639.hp2
HG01884.hp1
HG01884.hp2
HG02257.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03098.hp2
HG06807.hp2
NA18906.hp2
NA19240.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(11): Show 
c.15816+4539_15816+4543delATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393195
chr1:39393196 A
A
 AAAAAAAA
others(24): Show 
AAAAAAAAAAAAAAAAATATATATATATATAT
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(37): Show 
c.15816+4539_15816+4540insAAAAAAAAAAAAAAATATATATAT
ATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(21): Show 
AAAAAAAAAAAAAAAATATATATATATAT
 1 a0006c0005t0001g0236
a0006c0005t0001g0236
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(34): Show 
c.15816+4539_15816+4540insAAAAAAAAAAAAAATATATATATA
TATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAAAAAATATATATATATAT
 1 a0006c0005t0001g0237
a0006c0005t0001g0237
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(33): Show 
c.15816+4539_15816+4540insAAAAAAAAAAAAATATATATATAT
ATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(12): Show 
AAAAAAAAAAAAATATATAT
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(25): Show 
c.15816+4539_15816+4540insAAAAAAAAAAATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(16): Show 
AAAAAAAAAAAAATATATATATAT
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(29): Show 
c.15816+4539_15816+4540insAAAAAAAAAAATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAAAATATATATATATATAT
 1 a0006c0005t0001g0235
a0006c0005t0001g0235
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(33): Show 
c.15816+4539_15816+4540insAAAAAAAAAAATATATATATATAT
ATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(4): Show 
AAAAAAAAAAAT
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(17): Show 
c.15816+4539_15816+4540insAAAAAAAAATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(18): Show 
AAAAAAAAAAATATATATATATATAT
 1 a0006c0005t0001g0240
a0006c0005t0001g0240
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(31): Show 
c.15816+4539_15816+4540insAAAAAAAAATATATATATATATAT
A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(20): Show 
AAAAAAAAAAATATATATATATATATAT
 1 a0006c0005t0001g0238
a0006c0005t0001g0238
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(33): Show 
c.15816+4539_15816+4540insAAAAAAAAATATATATATATATAT
ATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(22): Show 
AAAAAAAAAAATATATATATATATATATAT
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(35): Show 
c.15816+4539_15816+4540insAAAAAAAAATATATATATATATAT
ATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(15): Show 
AAAAAAAAAATATATATATATAT
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(28): Show 
c.15816+4539_15816+4540insAAAAAAAATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(21): Show 
AAAAAAAAAATATATATATATATATATAT
 1 a0006c0005t0001g0239
a0006c0005t0001g0239
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(34): Show 
c.15816+4539_15816+4540insAAAAAAAATATATATATATATATA
TATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAA
others(3): Show 
AAAAAAAATAT
 3 a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 3 HG02486.hp1
HG02922.hp2
NA20129.hp1
HG02486.hp1
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(16): Show 
c.15816+4539_15816+4540insAAAAAATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAAAT
others(4): Show 
AAAAAAATATAT
 1 a0002c0004t0001g0009
a0002c0004t0001g0009
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(17): Show 
c.15816+4539_15816+4540insAAAAATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAAATA
others(9): Show 
AAAAAATATATATATAT
 1 a0009c0014t0001g0190
a0009c0014t0001g0190
 1 HG03130.hp2
HG03130.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(22): Show 
c.15816+4539_15816+4540insAAAATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAAATAT
others(6): Show 
AAAAATATATATAT
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.15816+4539_15816+4
others(19): Show 
c.15816+4539_15816+4540insAAATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAAATATA
others(3): Show 
AAAATATATAT
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.15816+4539_15816+4
others(16): Show 
c.15816+4539_15816+4540insAATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AAT
AAT
 17 a0001c0001t0001g0018
a0001c0001t0001g0024
a0001c0001t0001g0025
others(14): Show 
a0001c0001t0001g0018
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0043
a0001c0001t0001g0053
a0002c0003t0002g0113
a0002c0003t0002g0246
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0007c0007t0002g0054
a0007c0007t0002g0057
a0015c0022t0001g0007
a0017c0020t0001g0086
a0025c0030t0001g0067
a0051c0045t0012g0022
 17 HG00140.hp1
HG00280.hp2
HG00733.hp1
others(14): Show 
HG00140.hp1
HG00280.hp2
HG00733.hp1
HG00741.hp2
HG01099.hp1
HG01261.hp2
HG01433.hp1
HG02132.hp1
HG02155.hp1
HG02280.hp2
HG02572.hp2
HG03491.hp2
NA18974.hp2
NA18981.hp2
NA19080.hp1
NA19091.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.15816+4565_15816+4
others(8): Show 
c.15816+4565_15816+4566dupAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AATAT
AATAT
 15 a0002c0003t0002g0182
a0003c0002t0001g0121
a0003c0002t0001g0122
others(12): Show 
a0002c0003t0002g0182
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0135
a0003c0002t0001g0149
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0155
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0145
a0034c0056t0001g0176
a0049c0067t0001g0116
 15 HG00280.hp1
HG00741.hp1
HG01261.hp1
others(12): Show 
HG00280.hp1
HG00741.hp1
HG01261.hp1
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02074.hp2
HG02155.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG03490.hp1
NA18983.hp1
NA19084.hp1
 intron_variant MODIFIER c.15816+4563_15816+4
others(10): Show 
c.15816+4563_15816+4566dupATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AATATAT
AATATAT
 9 a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0138
others(6): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0160
a0003c0002t0002g0137
a0010c0016t0004g0140
a0031c0059t0002g0177
a0035c0055t0002g0179
 9 HG00558.hp2
HG01081.hp1
HG02015.hp1
others(6): Show 
HG00558.hp2
HG01081.hp1
HG02015.hp1
NA18953.hp2
NA18966.hp2
NA18969.hp1
NA18988.hp2
NA18990.hp2
NA19000.hp2
 intron_variant MODIFIER c.15816+4561_15816+4
others(12): Show 
c.15816+4561_15816+4566dupATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AATATATA
others(9): Show 
AATATATATATATATAT
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.15816+4551_15816+4
others(22): Show 
c.15816+4551_15816+4566dupATATATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AATATATA
others(17): Show 
AATATATATATATATATATATATAT
 1 a0022c0072t0001g0209
a0022c0072t0001g0209
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.15816+4543_15816+4
others(30): Show 
c.15816+4543_15816+4566dupATATATATATATATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393196
chr1:39393196 A
A
 AT
AT
 3 a0001c0001t0001g0039
a0001c0012t0001g0060
a0001c0040t0001g0014
a0001c0001t0001g0039
a0001c0012t0001g0060
a0001c0040t0001g0014
 3 HG01361.hp1
HG03704.hp1
NA18522.hp1
HG01361.hp1
HG03704.hp1
NA18522.hp1
 intron_variant MODIFIER c.15816+4538_15816+4
others(7): Show 
c.15816+4538_15816+4539insT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393196
chr1:39393196 A
A
 ATATATAT
ATATATAT
 3 a0001c0018t0002g0047
a0001c0036t0002g0035
a0007c0007t0001g0082
a0001c0018t0002g0047
a0001c0036t0002g0035
a0007c0007t0001g0082
 3 HG00609.hp2
NA18995.hp1
NA19080.hp2
HG00609.hp2
NA18995.hp1
NA19080.hp2
 intron_variant MODIFIER c.15816+4538_15816+4
others(13): Show 
c.15816+4538_15816+4539insTATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393196
chr1:39393196 A
A
 ATATATAT
others(16): Show 
ATATATATATATATATATATATAT
 1 a0020c0075t0001g0211
a0020c0075t0001g0211
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.15816+4538_15816+4
others(29): Show 
c.15816+4538_15816+4539insTATATATATATATATATATATAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393196
chr1:39393196 A
A
 T
T
 72 a0001c0001t0001g0019
a0001c0001t0001g0027
a0001c0001t0001g0048
others(69): Show 
a0001c0001t0001g0019
a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0097
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0119
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0150
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0161
a0003c0066t0001g0117
a0004c0006t0001g0049
a0004c0006t0001g0069
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0052
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0027c0063t0002g0229
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0045c0070t0001g0144
a0046c0044t0001g0100
a0048c0065t0001g0141
a0052c0046t0001g0068
 72 HG00438.hp1
HG00438.hp2
HG00544.hp1
others(69): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp2
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG01361.hp2
HG01981.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02165.hp2
HG02280.hp1
HG02486.hp2
HG02615.hp2
HG02683.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG03209.hp1
HG03453.hp2
HG03490.hp2
HG03540.hp2
HG03927.hp1
HG04115.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp2
NA18943.hp2
NA18953.hp1
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18969.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18981.hp1
NA18986.hp1
NA18995.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.15816+4538A>T
c.15816+4538A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393196
chr1:39393198 T
T
 A
A
 10 a0001c0001t0001g0061
a0001c0001t0001g0087
a0001c0001t0001g0089
others(7): Show 
a0001c0001t0001g0061
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0098
a0001c0001t0002g0088
a0001c0034t0001g0090
a0011c0013t0001g0076
a0011c0013t0001g0078
a0017c0020t0001g0085
a0039c0042t0001g0021
 10 HG00558.hp1
HG02257.hp2
HG02738.hp2
others(7): Show 
HG00558.hp1
HG02257.hp2
HG02738.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
NA18962.hp1
NA18990.hp1
NA19086.hp2
 intron_variant MODIFIER c.15816+4540T>A
c.15816+4540T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393198
chr1:39393272 C
C
 G
G
 2 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0001g0186
a0002c0003t0001g0187
 2 NA18953.hp2
NA18988.hp2
NA18953.hp2
NA18988.hp2
 intron_variant MODIFIER c.15816+4614C>G
c.15816+4614C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393272
chr1:39393275 C
C
 T
T
 154 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(151): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 154 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(151): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+4617C>T
c.15816+4617C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393275
chr1:39393296 G
G
 C
C
 1 a0002c0024t0001g0203
a0002c0024t0001g0203
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.15816+4638G>C
c.15816+4638G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393296
chr1:39393354 G
G
 A
A
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.15816+4696G>A
c.15816+4696G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393354
chr1:39393806 CA
CA
 C
C
 156 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(153): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 156 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(153): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+5158delA
c.15816+5158delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393806
chr1:39393834 A
A
 G
G
 2 a0003c0002t0001g0148
a0003c0002t0001g0156
a0003c0002t0001g0148
a0003c0002t0001g0156
 2 NA18939.hp2
NA18975.hp2
NA18939.hp2
NA18975.hp2
 intron_variant MODIFIER c.15816+5176A>G
c.15816+5176A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393834
chr1:39393846 G
G
 GGA
GGA
 95 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(92): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0027c0063t0002g0229
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 95 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(92): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02922.hp1
HG02976.hp2
HG03195.hp2
HG03239.hp2
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03927.hp2
HG04115.hp1
NA18522.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.15816+5207_15816+5
others(8): Show 
c.15816+5207_15816+5208dupGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393846
chr1:39393846 G
G
 GGAGAGAG
others(1): Show 
GGAGAGAGA
 3 a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 3 HG01243.hp1
HG02896.hp1
HG02897.hp1
HG01243.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.15816+5201_15816+5
others(14): Show 
c.15816+5201_15816+5208dupGAGAGAGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393846
chr1:39393865 G
G
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15816+5207G>T
c.15816+5207G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393865
chr1:39393867 A
A
 G
G
 28 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(25): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 28 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(25): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+5209A>G
c.15816+5209A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393867
chr1:39393875 G
G
 A
A
 25 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(22): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0236
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 25 HG00639.hp2
HG01069.hp2
HG01884.hp1
others(22): Show 
HG00639.hp2
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG04204.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+5217G>A
c.15816+5217G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393875
chr1:39393879 A
A
 G
G
 25 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(22): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0236
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 25 HG00639.hp2
HG01069.hp2
HG01884.hp1
others(22): Show 
HG00639.hp2
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG04204.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+5221A>G
c.15816+5221A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393879
chr1:39393883 AAAG
AAAG
 A
A
 57 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0017t0001g0028
others(54): Show 
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0009g0192
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0053c0077t0001g0020
 57 HG00438.hp2
HG00597.hp1
HG00642.hp1
others(54): Show 
HG00438.hp2
HG00597.hp1
HG00642.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02486.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+5228_15816+5
others(9): Show 
c.15816+5228_15816+5230delGAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39393883
chr1:39393884 A
A
 AG
AG
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 24 HG00639.hp2
HG01069.hp2
HG01884.hp1
others(21): Show 
HG00639.hp2
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+5226_15816+5
others(7): Show 
c.15816+5226_15816+5227insG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393884
chr1:39393886 G
G
 A
A
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 24 HG00639.hp2
HG01069.hp2
HG01884.hp1
others(21): Show 
HG00639.hp2
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+5228G>A
c.15816+5228G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39393886
chr1:39394180 C
C
 T
T
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.15816+5522C>T
c.15816+5522C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394180
chr1:39394228 A
A
 G
G
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+5570A>G
c.15816+5570A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394228
chr1:39394232 G
G
 A
A
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.15816+5574G>A
c.15816+5574G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394232
chr1:39394239 T
T
 TTTGA
TTTGA
 17 a0001c0001t0001g0043
a0002c0003t0002g0044
a0002c0003t0002g0127
others(14): Show 
a0001c0001t0001g0043
a0002c0003t0002g0044
a0002c0003t0002g0127
a0002c0003t0002g0182
a0002c0003t0002g0231
a0003c0002t0002g0137
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0009c0014t0010g0225
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0028c0050t0008g0233
a0029c0061t0003g0232
 17 HG00438.hp2
HG00597.hp1
HG00733.hp1
others(14): Show 
HG00438.hp2
HG00597.hp1
HG00733.hp1
HG01884.hp2
HG02155.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03471.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18990.hp2
NA19086.hp1
NA19240.hp1
 intron_variant MODIFIER c.15816+5616_15816+5
others(10): Show 
c.15816+5616_15816+5619dupGATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39394239
chr1:39394239 TTTGA
TTTGA
 T
T
 33 a0001c0001t0001g0051
a0001c0001t0001g0080
a0001c0001t0001g0104
others(30): Show 
a0001c0001t0001g0051
a0001c0001t0001g0080
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0004c0006t0001g0062
a0004c0035t0001g0063
a0005c0008t0007g0166
a0009c0014t0009g0192
a0009c0047t0001g0189
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0032c0043t0001g0064
a0033c0053t0001g0200
a0036c0048t0001g0008
a0037c0058t0001g0245
a0041c0033t0001g0055
a0042c0052t0001g0201
a0044c0032t0001g0102
 33 HG00639.hp2
HG01069.hp2
HG01106.hp2
others(30): Show 
HG00639.hp2
HG01069.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp2
HG01884.hp1
HG02015.hp2
HG02040.hp1
HG02109.hp1
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03453.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp2
HG03927.hp1
NA18906.hp2
NA18943.hp1
NA18980.hp1
NA19030.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.15816+5616_15816+5
others(10): Show 
c.15816+5616_15816+5619delGATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39394239
chr1:39394262 G
G
 T
T
 3 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0111
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0111
 3 HG00735.hp2
HG02602.hp1
HG03927.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.15816+5604G>T
c.15816+5604G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394262
chr1:39394266 G
G
 T
T
 13 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(10): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0111
a0003c0002t0001g0135
a0003c0002t0001g0147
a0003c0002t0001g0161
a0010c0016t0004g0136
a0010c0016t0004g0145
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0132
a0048c0065t0001g0141
 13 HG00735.hp2
HG02135.hp2
HG02165.hp1
others(10): Show 
HG00735.hp2
HG02135.hp2
HG02165.hp1
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG03927.hp2
NA18954.hp2
NA18973.hp2
NA19084.hp1
NA19085.hp2
NA20805.hp1
 intron_variant MODIFIER c.15816+5608G>T
c.15816+5608G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394266
chr1:39394270 G
G
 T
T
 40 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(37): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0135
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 40 HG00280.hp1
HG00609.hp1
HG00639.hp1
others(37): Show 
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18954.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18999.hp2
NA19000.hp2
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+5612G>T
c.15816+5612G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394270
chr1:39394270 GATTGATT
others(1): Show 
GATTGATTT
 G
G
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0239
a0015c0022t0001g0005
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02976.hp2
HG06807.hp1
NA18522.hp2
 intron_variant MODIFIER c.15816+5617_15816+5
others(14): Show 
c.15816+5617_15816+5624delATTTATTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39394270
chr1:39394274 G
G
 T
T
 54 a0001c0012t0001g0059
a0002c0039t0001g0073
a0003c0002t0001g0108
others(51): Show 
a0001c0012t0001g0059
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0007c0007t0002g0054
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0040c0051t0001g0205
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 54 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(51): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19010.hp1
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+5616G>T
c.15816+5616G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394274
chr1:39394274 GATTT
GATTT
 G
G
 20 a0001c0001t0001g0103
a0001c0017t0001g0028
a0001c0017t0001g0029
others(17): Show 
a0001c0001t0001g0103
a0001c0017t0001g0028
a0001c0017t0001g0029
a0004c0006t0001g0049
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0007
a0025c0030t0001g0067
a0030c0060t0001g0241
a0043c0057t0001g0168
a0052c0046t0001g0068
a0053c0077t0001g0020
 20 HG01069.hp1
HG01106.hp1
HG01243.hp1
others(17): Show 
HG01069.hp1
HG01106.hp1
HG01243.hp1
HG02071.hp2
HG02280.hp2
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA18971.hp1
NA18987.hp2
NA19000.hp1
 intron_variant MODIFIER c.15816+5620_15816+5
others(10): Show 
c.15816+5620_15816+5623delTATT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39394274
chr1:39394278 T
T
 G
G
 4 a0001c0001t0002g0033
a0001c0001t0002g0034
a0004c0006t0001g0069
others(1): Show 
a0001c0001t0002g0033
a0001c0001t0002g0034
a0004c0006t0001g0069
a0006c0005t0001g0240
 4 HG00597.hp2
HG03209.hp1
NA18953.hp1
others(1): Show 
HG00597.hp2
HG03209.hp1
NA18953.hp1
NA20300.hp2
 intron_variant MODIFIER c.15816+5620T>G
c.15816+5620T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394278
chr1:39394285 A
A
 G
G
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+5627A>G
c.15816+5627A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394285
chr1:39394567 G
G
 A
A
 1 a0001c0001t0001g0107
a0001c0001t0001g0107
 1 NA18980.hp1
NA18980.hp1
 intron_variant MODIFIER c.15816+5909G>A
c.15816+5909G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394567
chr1:39394572 G
G
 A
A
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.15816+5914G>A
c.15816+5914G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394572
chr1:39394839 G
G
 C
C
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.15816+6181G>C
c.15816+6181G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39394839
chr1:39395257 C
C
 G
G
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.15816+6599C>G
c.15816+6599C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39395257
chr1:39395454 C
C
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15816+6796C>T
c.15816+6796C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39395454
chr1:39395545 G
G
 T
T
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.15816+6887G>T
c.15816+6887G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39395545
chr1:39395568 G
G
 A
A
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.15816+6910G>A
c.15816+6910G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39395568
chr1:39396319 C
C
 CA
CA
 54 a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0034t0001g0090
others(51): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0034t0001g0090
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0053c0077t0001g0020
 54 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(51): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+7677dupA
c.15816+7677dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39396319
chr1:39396319 C
C
 CAA
CAA
 22 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(19): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 22 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(19): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.15816+7676_15816+7
others(8): Show 
c.15816+7676_15816+7677dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39396319
chr1:39396319 CA
CA
 C
C
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+7677delA
c.15816+7677delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39396319
chr1:39396547 T
T
 C
C
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.15816+7889T>C
c.15816+7889T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39396547
chr1:39396704 C
C
 T
T
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+8046C>T
c.15816+8046C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39396704
chr1:39396725 C
C
 T
T
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 24 HG00639.hp2
HG00642.hp1
HG01884.hp1
others(21): Show 
HG00639.hp2
HG00642.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+8067C>T
c.15816+8067C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39396725
chr1:39396843 A
A
 T
T
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.15816+8185A>T
c.15816+8185A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39396843
chr1:39397135 C
C
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+8477C>G
c.15816+8477C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39397135
chr1:39397327 C
C
 T
T
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.15816+8669C>T
c.15816+8669C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39397327
chr1:39397481 G
G
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+8823G>T
c.15816+8823G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39397481
chr1:39397543 C
C
 T
T
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+8885C>T
c.15816+8885C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39397543
chr1:39397644 G
G
 A
A
 1 a0010c0016t0004g0136
a0010c0016t0004g0136
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.15816+8986G>A
c.15816+8986G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39397644
chr1:39398032 A
A
 C
C
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.15816+9374A>C
c.15816+9374A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39398032
chr1:39398105 A
A
 G
G
 1 a0006c0005t0001g0237
a0006c0005t0001g0237
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.15816+9447A>G
c.15816+9447A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39398105
chr1:39398139 C
C
 CT
CT
 32 a0001c0001t0001g0091
a0001c0001t0001g0092
a0002c0004t0001g0193
others(29): Show 
a0001c0001t0001g0091
a0001c0001t0001g0092
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0152
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 32 HG00639.hp2
HG00642.hp1
HG00741.hp1
others(29): Show 
HG00639.hp2
HG00642.hp1
HG00741.hp1
HG01069.hp2
HG01261.hp1
HG01884.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA18974.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+9500dupT
c.15816+9500dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39398139
chr1:39398139 C
C
 CTT
CTT
 5 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(2): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0040c0051t0001g0205
 5 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(2): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA19010.hp1
NA20129.hp1
 intron_variant MODIFIER c.15816+9499_15816+9
others(8): Show 
c.15816+9499_15816+9500dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39398139
chr1:39398139 CT
CT
 C
C
 13 a0002c0003t0002g0182
a0006c0005t0001g0234
a0006c0005t0001g0235
others(10): Show 
a0002c0003t0002g0182
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
a0031c0059t0002g0177
 13 HG01106.hp1
HG02155.hp2
HG02572.hp1
others(10): Show 
HG01106.hp1
HG02155.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA18969.hp1
NA20300.hp2
 intron_variant MODIFIER c.15816+9500delT
c.15816+9500delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39398139
chr1:39398376 T
T
 G
G
 79 a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
others(76): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0053c0077t0001g0020
 79 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(76): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+9718T>G
c.15816+9718T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39398376
chr1:39398610 G
G
 C
C
 1 a0007c0007t0001g0056
a0007c0007t0001g0056
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.15816+9952G>C
c.15816+9952G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39398610
chr1:39398619 A
A
 C
C
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+9961A>C
c.15816+9961A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39398619
chr1:39399018 T
T
 C
C
 1 a0022c0072t0001g0209
a0022c0072t0001g0209
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.15816+10360T>C
c.15816+10360T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399018
chr1:39399031 T
T
 G
G
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.15816+10373T>G
c.15816+10373T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399031
chr1:39399263 T
T
 C
C
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+10605T>C
c.15816+10605T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399263
chr1:39399299 C
C
 A
A
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+10641C>A
c.15816+10641C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399299
chr1:39399371 C
C
 CT
CT
 64 a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0107
others(61): Show 
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0107
a0001c0040t0001g0014
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0004c0019t0001g0052
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 64 HG00438.hp2
HG00597.hp1
HG00642.hp1
others(61): Show 
HG00438.hp2
HG00597.hp1
HG00642.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG01981.hp1
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02486.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15816+10734dupT
c.15816+10734dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39399371
chr1:39399371 C
C
 CTT
CTT
 48 a0002c0003t0002g0113
a0002c0004t0001g0193
a0002c0004t0001g0195
others(45): Show 
a0002c0003t0002g0113
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0115
a0003c0002t0001g0135
a0003c0002t0001g0147
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0155
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0007g0166
a0005c0009t0003g0218
a0006c0005t0001g0238
a0006c0005t0001g0242
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0015c0022t0001g0005
a0015c0022t0001g0007
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0030c0060t0001g0241
a0033c0053t0001g0200
a0036c0048t0001g0008
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
 48 HG00280.hp1
HG00639.hp1
HG00639.hp2
others(45): Show 
HG00280.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG01243.hp1
HG01884.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02257.hp1
HG02280.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG03098.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03927.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18974.hp1
NA19010.hp1
NA19030.hp1
NA19080.hp1
NA19084.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.15816+10733_15816+
others(10): Show 
c.15816+10733_15816+10734dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39399371
chr1:39399371 C
C
 CTTT
CTTT
 37 a0002c0025t0001g0191
a0003c0002t0001g0114
a0003c0002t0001g0118
others(34): Show 
a0002c0025t0001g0191
a0003c0002t0001g0114
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0014c0021t0001g0227
a0018c0027t0001g0157
a0018c0027t0001g0158
a0037c0058t0001g0245
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
 37 HG00544.hp1
HG00558.hp2
HG00609.hp1
others(34): Show 
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00741.hp1
HG01099.hp2
HG01243.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02897.hp1
HG03490.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA19011.hp1
NA19083.hp2
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.15816+10732_15816+
others(11): Show 
c.15816+10732_15816+10734dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39399371
chr1:39399399 G
G
 T
T
 2 a0003c0002t0001g0135
a0048c0065t0001g0141
a0003c0002t0001g0135
a0048c0065t0001g0141
 2 HG02135.hp2
NA19084.hp1
HG02135.hp2
NA19084.hp1
 intron_variant MODIFIER c.15816+10741G>T
c.15816+10741G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399399
chr1:39399438 G
G
 A
A
 2 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0091
a0001c0001t0001g0092
 2 HG02055.hp1
HG02145.hp1
HG02055.hp1
HG02145.hp1
 intron_variant MODIFIER c.15816+10780G>A
c.15816+10780G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399438
chr1:39399786 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+11128A>G
c.15816+11128A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399786
chr1:39399986 G
G
 A
A
 28 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(25): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 28 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(25): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+11328G>A
c.15816+11328G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39399986
chr1:39400437 T
T
 A
A
 5 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(2): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0043c0057t0001g0168
 5 HG01243.hp1
HG02486.hp1
HG02886.hp2
others(2): Show 
HG01243.hp1
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15816+11779T>A
c.15816+11779T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39400437
chr1:39400482 CT
CT
 C
C
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15816+11835delT
c.15816+11835delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39400482
chr1:39400551 G
G
 A
A
 3 a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 3 HG01069.hp2
HG03041.hp1
HG03579.hp1
HG01069.hp2
HG03041.hp1
HG03579.hp1
 intron_variant MODIFIER c.15816+11893G>A
c.15816+11893G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39400551
chr1:39400625 G
G
 A
A
 25 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(22): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 25 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(22): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+11967G>A
c.15816+11967G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39400625
chr1:39400844 T
T
 C
C
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.15816+12186T>C
c.15816+12186T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39400844
chr1:39400928 A
A
 G
G
 1 a0003c0002t0001g0160
a0003c0002t0001g0160
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.15816+12270A>G
c.15816+12270A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39400928
chr1:39401383 C
C
 T
T
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+12725C>T
c.15816+12725C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39401383
chr1:39401522 A
A
 G
G
 1 a0001c0001t0001g0038
a0001c0001t0001g0038
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.15816+12864A>G
c.15816+12864A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39401522
chr1:39401747 A
A
 G
G
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.15816+13089A>G
c.15816+13089A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39401747
chr1:39401829 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+13171A>G
c.15816+13171A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39401829
chr1:39401836 T
T
 G
G
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15816+13178T>G
c.15816+13178T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39401836
chr1:39401917 A
A
 T
T
 1 a0002c0004t0001g0204
a0002c0004t0001g0204
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.15816+13259A>T
c.15816+13259A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39401917
chr1:39401938 G
G
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.15816+13280G>A
c.15816+13280G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39401938
chr1:39402073 T
T
 G
G
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.15816+13415T>G
c.15816+13415T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39402073
chr1:39402073 TTGG
TTGG
 T
T
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+13422_15816+
others(11): Show 
c.15816+13422_15816+13424delTGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39402073
chr1:39402104 T
T
 C
C
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 NA18939.hp1
NA18939.hp1
 intron_variant MODIFIER c.15816+13446T>C
c.15816+13446T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39402104
chr1:39402329 C
C
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.15816+13671C>G
c.15816+13671C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39402329
chr1:39402362 T
T
 C
C
 1 a0001c0031t0001g0106
a0001c0031t0001g0106
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.15816+13704T>C
c.15816+13704T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39402362
chr1:39402511 G
G
 T
T
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.15816+13853G>T
c.15816+13853G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39402511
chr1:39402949 GTCTCT
GTCTCT
 G
G
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+14302_15816+
others(13): Show 
c.15816+14302_15816+14306delTCTCT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39402949
chr1:39402975 C
C
 T
T
 8 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(5): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
 8 HG00639.hp2
HG01884.hp1
HG02647.hp1
others(5): Show 
HG00639.hp2
HG01884.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.15816+14317C>T
c.15816+14317C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39402975
chr1:39403060 TGG
TGG
 T
T
 5 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(2): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0043c0057t0001g0168
 5 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(2): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+14403_15816+
others(10): Show 
c.15816+14403_15816+14404delGG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403060
chr1:39403062 G
G
 T
T
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.15816+14404G>T
c.15816+14404G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403062
chr1:39403078 GTTGTT
GTTGTT
 G
G
 39 a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
others(36): Show 
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0103
a0001c0001t0002g0088
a0001c0017t0001g0028
a0001c0017t0001g0029
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0032c0043t0001g0064
a0039c0042t0001g0021
a0053c0077t0001g0020
 39 HG00280.hp2
HG00558.hp1
HG00733.hp1
others(36): Show 
HG00280.hp2
HG00558.hp1
HG00733.hp1
HG01099.hp1
HG01109.hp2
HG01346.hp1
HG01361.hp1
HG01884.hp2
HG01952.hp2
HG02004.hp2
HG02040.hp2
HG02071.hp2
HG02273.hp1
HG02683.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG03704.hp2
HG04115.hp2
HG06807.hp2
NA18906.hp1
NA18962.hp1
NA18971.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19086.hp2
NA19240.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.15816+14454_15816+
others(13): Show 
c.15816+14454_15816+14458delTTTTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39403078
chr1:39403078 GTTGTTTT
others(3): Show 
GTTGTTTTGTT
 G
G
 126 a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
others(123): Show 
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0014c0021t0001g0226
a0014c0021t0001g0227
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 126 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(123): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.15816+14449_15816+
others(18): Show 
c.15816+14449_15816+14458delTTTTGTTTTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39403078
chr1:39403078 GTTGTTTT
others(8): Show 
GTTGTTTTGTTTTGTT
 G
G
 9 a0002c0003t0001g0186
a0002c0003t0001g0187
a0013c0023t0001g0003
others(6): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA18953.hp2
NA18988.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+14444_15816+
others(23): Show 
c.15816+14444_15816+14458delTTTTGTTTTGTTTTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39403078
chr1:39403160 G
G
 A
A
 25 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(22): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 25 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(22): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+14502G>A
c.15816+14502G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403160
chr1:39403161 C
C
 T
T
 3 a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 3 HG01069.hp2
HG03041.hp1
HG03579.hp1
HG01069.hp2
HG03041.hp1
HG03579.hp1
 intron_variant MODIFIER c.15816+14503C>T
c.15816+14503C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403161
chr1:39403549 A
A
 G
G
 1 a0003c0002t0001g0153
a0003c0002t0001g0153
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.15816+14891A>G
c.15816+14891A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403549
chr1:39403619 A
A
 G
G
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.15816+14961A>G
c.15816+14961A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403619
chr1:39403810 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.15816+15152G>A
c.15816+15152G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403810
chr1:39403838 G
G
 T
T
 3 a0003c0002t0001g0115
a0003c0002t0001g0147
a0004c0011t0003g0167
a0003c0002t0001g0115
a0003c0002t0001g0147
a0004c0011t0003g0167
 3 HG02055.hp2
HG02738.hp1
HG03540.hp2
HG02055.hp2
HG02738.hp1
HG03540.hp2
 intron_variant MODIFIER c.15816+15180G>T
c.15816+15180G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403838
chr1:39403839 G
G
 C
C
 25 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(22): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 25 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(22): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+15181G>C
c.15816+15181G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403839
chr1:39403839 GGC
GGC
 G
G
 23 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(20): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 23 HG01069.hp2
HG01109.hp2
HG01884.hp2
others(20): Show 
HG01069.hp2
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15816+15183_15816+
others(10): Show 
c.15816+15183_15816+15184delCG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39403839
chr1:39403840 GC
GC
 G
G
 120 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(117): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0125
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0038c0054t0002g0178
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 120 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(117): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.15816+15183delC
c.15816+15183delC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403840
chr1:39403841 C
C
 G
G
 11 a0002c0025t0001g0191
a0003c0002t0001g0119
a0003c0002t0001g0122
others(8): Show 
a0002c0025t0001g0191
a0003c0002t0001g0119
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0160
a0015c0022t0001g0007
a0037c0058t0001g0245
a0040c0051t0001g0205
 11 HG00741.hp1
HG01243.hp2
HG01261.hp1
others(8): Show 
HG00741.hp1
HG01243.hp2
HG01261.hp1
HG02074.hp2
HG02145.hp2
HG02572.hp2
HG02738.hp1
NA18975.hp2
NA19000.hp2
NA19010.hp1
NA19091.hp1
 intron_variant MODIFIER c.15816+15183C>G
c.15816+15183C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403841
chr1:39403842 G
G
 T
T
 4 a0004c0006t0001g0049
a0004c0006t0001g0069
a0025c0030t0001g0067
others(1): Show 
a0004c0006t0001g0049
a0004c0006t0001g0069
a0025c0030t0001g0067
a0052c0046t0001g0068
 4 HG01069.hp1
HG02280.hp2
HG02486.hp2
others(1): Show 
HG01069.hp1
HG02280.hp2
HG02486.hp2
HG03209.hp1
 intron_variant MODIFIER c.15816+15184G>T
c.15816+15184G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403842
chr1:39403843 G
G
 T
T
 4 a0004c0006t0001g0049
a0004c0006t0001g0069
a0025c0030t0001g0067
others(1): Show 
a0004c0006t0001g0049
a0004c0006t0001g0069
a0025c0030t0001g0067
a0052c0046t0001g0068
 4 HG01069.hp1
HG02280.hp2
HG02486.hp2
others(1): Show 
HG01069.hp1
HG02280.hp2
HG02486.hp2
HG03209.hp1
 intron_variant MODIFIER c.15816+15185G>T
c.15816+15185G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403843
chr1:39403880 G
G
 A
A
 1 a0002c0024t0001g0198
a0002c0024t0001g0198
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.15816+15222G>A
c.15816+15222G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403880
chr1:39403985 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15816+15327C>T
c.15816+15327C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39403985
chr1:39404043 C
C
 T
T
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+15385C>T
c.15816+15385C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404043
chr1:39404141 A
A
 ATAAG
ATAAG
 3 a0003c0002t0001g0139
a0003c0002t0001g0151
a0036c0048t0001g0008
a0003c0002t0001g0139
a0003c0002t0001g0151
a0036c0048t0001g0008
 3 HG00544.hp1
HG03490.hp1
NA19030.hp1
HG00544.hp1
HG03490.hp1
NA19030.hp1
 intron_variant MODIFIER c.15816+15491_15816+
others(12): Show 
c.15816+15491_15816+15494dupGTAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404141
chr1:39404149 G
G
 GTAAA
GTAAA
 15 a0001c0001t0001g0019
a0001c0001t0001g0091
a0001c0001t0001g0092
others(12): Show 
a0001c0001t0001g0019
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0040t0001g0014
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0046c0044t0001g0100
 15 HG00438.hp1
HG02055.hp1
HG02145.hp1
others(12): Show 
HG00438.hp1
HG02055.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG03098.hp1
NA18522.hp1
NA18975.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+15524_15816+
others(12): Show 
c.15816+15524_15816+15527dupTAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404149
chr1:39404149 G
G
 GTAAATAA
others(5): Show 
GTAAATAAATAAA
 1 a0011c0013t0001g0079
a0011c0013t0001g0079
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.15816+15516_15816+
others(20): Show 
c.15816+15516_15816+15527dupTAAATAAATAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404149
chr1:39404149 G
G
 GTAAGTAA
others(9): Show 
GTAAGTAAGTAAATAAA
 2 a0015c0022t0001g0005
a0037c0058t0001g0245
a0015c0022t0001g0005
a0037c0058t0001g0245
 2 HG01243.hp2
NA18522.hp2
HG01243.hp2
NA18522.hp2
 intron_variant MODIFIER c.15816+15494_15816+
others(24): Show 
c.15816+15494_15816+15495insGTAAGTAAATAAATAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404149
chr1:39404149 GTAAA
GTAAA
 G
G
 69 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0071
others(66): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0071
a0001c0037t0001g0095
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0026c0049t0001g0002
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
 69 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(66): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00741.hp2
HG01069.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp1
HG01261.hp2
HG01346.hp2
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp1
HG02109.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20129.hp2
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.15816+15524_15816+
others(12): Show 
c.15816+15524_15816+15527delTAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404149
chr1:39404149 GTAAATAA
others(9): Show 
GTAAATAAATAAATAAA
 G
G
 19 a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
others(16): Show 
a0001c0017t0001g0028
a0001c0017t0001g0029
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0053c0077t0001g0020
 19 HG01109.hp2
HG01884.hp2
HG02071.hp2
others(16): Show 
HG01109.hp2
HG01884.hp2
HG02071.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18971.hp1
NA18987.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15816+15512_15816+
others(24): Show 
c.15816+15512_15816+15527delTAAATAAATAAATAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404149
chr1:39404153 A
A
 G
G
 50 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(47): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00558.hp2
HG00609.hp1
others(47): Show 
HG00280.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+15495A>G
c.15816+15495A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404153
chr1:39404157 A
A
 G
G
 7 a0002c0004t0001g0202
a0002c0004t0011g0194
a0006c0005t0001g0238
others(4): Show 
a0002c0004t0001g0202
a0002c0004t0011g0194
a0006c0005t0001g0238
a0006c0005t0001g0240
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 7 HG02109.hp1
HG02895.hp2
HG02897.hp2
others(4): Show 
HG02109.hp1
HG02895.hp2
HG02897.hp2
HG03453.hp2
HG03516.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.15816+15499A>G
c.15816+15499A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404157
chr1:39404204 G
G
 GT
GT
 45 a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0024
others(42): Show 
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0043
a0001c0001t0001g0103
a0001c0001t0002g0034
a0001c0001t0002g0037
a0002c0003t0002g0044
a0002c0003t0002g0182
a0002c0004t0001g0197
a0002c0015t0002g0112
a0002c0025t0001g0191
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0002g0137
a0004c0006t0001g0077
a0004c0011t0003g0169
a0004c0019t0001g0052
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0163
a0005c0009t0003g0216
a0005c0009t0003g0218
a0006c0005t0001g0235
a0006c0005t0001g0236
a0008c0010t0003g0220
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0022c0072t0001g0209
a0029c0061t0003g0232
a0031c0059t0002g0177
a0040c0051t0001g0205
a0042c0052t0001g0201
 45 HG00597.hp1
HG00597.hp2
HG00642.hp1
others(42): Show 
HG00597.hp1
HG00597.hp2
HG00642.hp1
HG00733.hp1
HG01099.hp1
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01981.hp2
HG02074.hp2
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp1
HG03098.hp2
HG03195.hp2
HG03453.hp1
HG03540.hp2
HG03579.hp2
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18960.hp2
NA18966.hp2
NA18969.hp1
NA18981.hp2
NA18987.hp1
NA18988.hp1
NA18990.hp2
NA18999.hp1
NA19000.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp1
NA19083.hp2
NA19084.hp1
 intron_variant MODIFIER c.15816+15555dupT
c.15816+15555dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404204
chr1:39404244 A
A
 C
C
 1 a0015c0022t0001g0005
a0015c0022t0001g0005
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.15816+15586A>C
c.15816+15586A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404244
chr1:39404401 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15816+15743G>A
c.15816+15743G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404401
chr1:39404471 GA
GA
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15816+15826delA
c.15816+15826delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39404471
chr1:39404547 A
A
 G
G
 1 a0003c0002t0001g0115
a0003c0002t0001g0115
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.15816+15889A>G
c.15816+15889A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404547
chr1:39404900 C
C
 T
T
 1 a0001c0001t0002g0037
a0001c0001t0002g0037
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.15816+16242C>T
c.15816+16242C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404900
chr1:39404903 T
T
 C
C
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.15816+16245T>C
c.15816+16245T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404903
chr1:39404912 C
C
 T
T
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.15816+16254C>T
c.15816+16254C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39404912
chr1:39405121 C
C
 T
T
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15816+16463C>T
c.15816+16463C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39405121
chr1:39405372 A
A
 T
T
 1 a0003c0002t0001g0139
a0003c0002t0001g0139
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.15816+16714A>T
c.15816+16714A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39405372
chr1:39405374 C
C
 T
T
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.15816+16716C>T
c.15816+16716C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39405374
chr1:39405679 C
C
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-16695C>G
c.15817-16695C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39405679
chr1:39405844 T
T
 C
C
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-16530T>C
c.15817-16530T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39405844
chr1:39405878 G
G
 C
C
 2 a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0025t0001g0001
a0002c0025t0001g0191
 2 HG02145.hp2
HG03471.hp2
HG02145.hp2
HG03471.hp2
 intron_variant MODIFIER c.15817-16496G>C
c.15817-16496G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39405878
chr1:39405882 C
C
 CT
CT
 18 a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0048
others(15): Show 
a0001c0001t0001g0039
a0001c0001t0001g0045
a0001c0001t0001g0048
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0002t0001g0138
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0029c0061t0003g0232
a0036c0048t0001g0008
a0037c0058t0001g0245
 18 HG01243.hp2
HG01361.hp1
HG01981.hp1
others(15): Show 
HG01243.hp2
HG01361.hp1
HG01981.hp1
HG02109.hp1
HG02486.hp1
HG02572.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp1
HG02922.hp2
HG03195.hp2
HG03453.hp2
NA18522.hp2
NA18942.hp2
NA18966.hp2
NA19030.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.15817-16480dupT
c.15817-16480dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39405882
chr1:39405882 CT
CT
 C
C
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0115
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
HG03540.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-16480delT
c.15817-16480delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39405882
chr1:39406180 C
C
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.15817-16194C>A
c.15817-16194C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406180
chr1:39406253 C
C
 T
T
 2 a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0081
a0007c0007t0001g0082
 2 NA18960.hp1
NA19080.hp2
NA18960.hp1
NA19080.hp2
 intron_variant MODIFIER c.15817-16121C>T
c.15817-16121C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406253
chr1:39406254 G
G
 A
A
 41 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(38): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 41 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(38): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15817-16120G>A
c.15817-16120G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406254
chr1:39406492 ACTTTGGG
others(3): Show 
ACTTTGGGAGG
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.15817-15879_15817-
others(18): Show 
c.15817-15879_15817-15870delTTGGGAGGCT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406492
chr1:39406505 G
G
 C
C
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.15817-15869G>C
c.15817-15869G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406505
chr1:39406508 G
G
 C
C
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.15817-15866G>C
c.15817-15866G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406508
chr1:39406508 G
G
 T
T
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.15817-15866G>T
c.15817-15866G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406508
chr1:39406597 C
C
 T
T
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-15777C>T
c.15817-15777C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406597
chr1:39406738 C
C
 CA
CA
 19 a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
others(16): Show 
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0080
a0001c0001t0001g0089
a0001c0001t0001g0096
a0001c0001t0002g0032
a0001c0001t0002g0088
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0062t0001g0006
a0007c0007t0001g0082
a0011c0013t0001g0079
a0039c0042t0001g0021
a0053c0077t0001g0020
 19 HG00558.hp1
HG01081.hp2
HG01346.hp1
others(16): Show 
HG00558.hp1
HG01081.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02071.hp2
HG02135.hp1
HG02273.hp1
HG03486.hp1
HG03927.hp1
NA18962.hp1
NA18971.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19030.hp2
NA19080.hp2
 intron_variant MODIFIER c.15817-15616dupA
c.15817-15616dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406738
chr1:39406738 C
C
 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 5 a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
others(2): Show 
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0026c0049t0001g0002
a0037c0058t0001g0245
 5 HG01243.hp2
HG02109.hp2
HG02280.hp1
others(2): Show 
HG01243.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
NA20129.hp2
 intron_variant MODIFIER c.15817-15626_15817-
others(19): Show 
c.15817-15626_15817-15616dupAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406738
chr1:39406738 C
C
 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 2 a0004c0011t0003g0167
a0013c0023t0001g0003
a0004c0011t0003g0167
a0013c0023t0001g0003
 2 HG02055.hp2
HG02109.hp1
HG02055.hp2
HG02109.hp1
 intron_variant MODIFIER c.15817-15627_15817-
others(20): Show 
c.15817-15627_15817-15616dupAAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406738
chr1:39406738 C
C
 CAAAAAAA
others(6): Show 
CAAAAAAAAAAAAA
 4 a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
others(1): Show 
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0036c0048t0001g0008
 4 HG02896.hp1
HG02897.hp1
HG03453.hp2
others(1): Show 
HG02896.hp1
HG02897.hp1
HG03453.hp2
NA19030.hp1
 intron_variant MODIFIER c.15817-15628_15817-
others(21): Show 
c.15817-15628_15817-15616dupAAAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406738
chr1:39406738 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.15817-15629_15817-
others(22): Show 
c.15817-15629_15817-15616dupAAAAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406738
chr1:39406738 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 2 a0002c0004t0001g0204
a0042c0052t0001g0201
a0002c0004t0001g0204
a0042c0052t0001g0201
 2 HG02257.hp1
HG02717.hp1
HG02257.hp1
HG02717.hp1
 intron_variant MODIFIER c.15817-15631_15817-
others(24): Show 
c.15817-15631_15817-15616dupAAAAAAAAAAAAAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406738
chr1:39406740 A
A
 G
G
 1 a0007c0007t0002g0054
a0007c0007t0002g0054
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.15817-15634A>G
c.15817-15634A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406740
chr1:39406756 A
A
 AAAAAAAA
others(18): Show 
AAAAAAAAAAAAAAAAAAAAAAAAAC
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.15817-15616_15817-
others(33): Show 
c.15817-15616_15817-15615insAAAAAAAAAAAAAAAAAAAAAA
CAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(14): Show 
AAAAAAAAAAAAAAAAAAAAAC
 2 a0006c0005t0001g0238
a0006c0005t0001g0240
a0006c0005t0001g0238
a0006c0005t0001g0240
 2 HG03516.hp2
NA20300.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.15817-15616_15817-
others(29): Show 
c.15817-15616_15817-15615insAAAAAAAAAAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(13): Show 
AAAAAAAAAAAAAAAAAAAAC
 2 a0006c0005t0001g0236
a0030c0060t0001g0241
a0006c0005t0001g0236
a0030c0060t0001g0241
 2 HG02922.hp1
HG04204.hp1
HG02922.hp1
HG04204.hp1
 intron_variant MODIFIER c.15817-15616_15817-
others(28): Show 
c.15817-15616_15817-15615insAAAAAAAAAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(12): Show 
AAAAAAAAAAAAAAAAAAAC
 4 a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0239
others(1): Show 
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0239
a0006c0005t0001g0243
 4 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(1): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02976.hp2
 intron_variant MODIFIER c.15817-15616_15817-
others(27): Show 
c.15817-15616_15817-15615insAAAAAAAAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(11): Show 
AAAAAAAAAAAAAAAAAAC
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.15817-15616_15817-
others(26): Show 
c.15817-15616_15817-15615insAAAAAAAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(9): Show 
AAAAAAAAAAAAAAAAC
 2 a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0004t0001g0202
a0002c0004t0011g0194
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.15817-15616_15817-
others(24): Show 
c.15817-15616_15817-15615insAAAAAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(8): Show 
AAAAAAAAAAAAAAAC
 8 a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
others(5): Show 
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
 8 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(5): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02647.hp1
HG02723.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
 intron_variant MODIFIER c.15817-15616_15817-
others(23): Show 
c.15817-15616_15817-15615insAAAAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(7): Show 
AAAAAAAAAAAAAAC
 4 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0199
others(1): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0199
a0002c0024t0001g0203
 4 HG02809.hp2
HG02818.hp1
HG02896.hp2
others(1): Show 
HG02809.hp2
HG02818.hp1
HG02896.hp2
NA18906.hp2
 intron_variant MODIFIER c.15817-15616_15817-
others(22): Show 
c.15817-15616_15817-15615insAAAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(5): Show 
AAAAAAAAAAAAC
 9 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0012
others(6): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0012
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0009g0192
a0009c0014t0010g0225
 9 HG02486.hp1
HG02886.hp2
HG02895.hp1
others(6): Show 
HG02486.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03579.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-15616_15817-
others(20): Show 
c.15817-15616_15817-15615insAAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(4): Show 
AAAAAAAAAAAC
 23 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(20): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0181
a0002c0003t0002g0184
a0002c0004t0001g0011
a0003c0002t0001g0138
a0003c0002t0001g0147
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0009t0003g0216
a0005c0009t0003g0218
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0034c0056t0001g0176
 23 HG00597.hp1
HG00642.hp1
HG01069.hp2
others(20): Show 
HG00597.hp1
HG00642.hp1
HG01069.hp2
HG01346.hp2
HG02615.hp1
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02965.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp1
HG03579.hp2
NA18953.hp2
NA18966.hp2
NA18983.hp1
NA18988.hp2
NA19084.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.15817-15616_15817-
others(19): Show 
c.15817-15616_15817-15615insAAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(3): Show 
AAAAAAAAAAC
 39 a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
others(36): Show 
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0180
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0071t0001g0120
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0217
a0008c0010t0001g0208
a0008c0010t0003g0213
a0010c0016t0004g0145
a0012c0029t0001g0165
a0012c0029t0001g0212
a0019c0028t0001g0130
a0019c0028t0001g0132
a0023c0074t0001g0206
a0027c0063t0002g0229
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
a0050c0069t0001g0123
 39 HG00280.hp1
HG00438.hp2
HG00639.hp1
others(36): Show 
HG00280.hp1
HG00438.hp2
HG00639.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01884.hp2
HG01952.hp1
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02976.hp1
HG03471.hp1
HG03491.hp2
HG03540.hp2
HG06807.hp2
NA18906.hp1
NA18943.hp2
NA18962.hp2
NA18969.hp1
NA18980.hp2
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18999.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19088.hp2
NA19240.hp1
NA20805.hp2
 intron_variant MODIFIER c.15817-15616_15817-
others(18): Show 
c.15817-15616_15817-15615insAAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 AAAAAAAA
others(2): Show 
AAAAAAAAAC
 35 a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
others(32): Show 
a0002c0003t0002g0127
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
a0003c0002t0001g0119
a0003c0002t0001g0122
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0135
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0156
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
 35 HG00544.hp1
HG00558.hp2
HG00609.hp1
others(32): Show 
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01361.hp2
HG01433.hp2
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02602.hp1
HG02809.hp1
HG03490.hp1
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18954.hp2
NA18960.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18990.hp2
NA18995.hp2
NA19000.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.15817-15616_15817-
others(17): Show 
c.15817-15616_15817-15615insAAAAAACAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39406756
chr1:39406756 A
A
 C
C
 2 a0006c0005t0001g0234
a0040c0051t0001g0205
a0006c0005t0001g0234
a0040c0051t0001g0205
 2 HG02647.hp2
NA19010.hp1
HG02647.hp2
NA19010.hp1
 intron_variant MODIFIER c.15817-15618A>C
c.15817-15618A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39406756
chr1:39407201 G
G
 C
C
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.15817-15173G>C
c.15817-15173G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39407201
chr1:39407256 C
C
 T
T
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.15817-15118C>T
c.15817-15118C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39407256
chr1:39407525 C
C
 G
G
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.15817-14849C>G
c.15817-14849C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39407525
chr1:39407939 G
G
 T
T
 1 a0003c0002t0001g0111
a0003c0002t0001g0111
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.15817-14435G>T
c.15817-14435G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39407939
chr1:39408021 A
A
 G
G
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-14353A>G
c.15817-14353A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408021
chr1:39408482 A
A
 G
G
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-13892A>G
c.15817-13892A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408482
chr1:39408566 G
G
 T
T
 1 a0031c0059t0002g0177
a0031c0059t0002g0177
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.15817-13808G>T
c.15817-13808G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408566
chr1:39408577 C
C
 T
T
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.15817-13797C>T
c.15817-13797C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408577
chr1:39408867 G
G
 T
T
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15817-13507G>T
c.15817-13507G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408867
chr1:39408922 C
C
 T
T
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.15817-13452C>T
c.15817-13452C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408922
chr1:39408924 C
C
 CGGCCCCG
others(9): Show 
CGGCCCCGCCCCCGCCG
 1 a0050c0069t0001g0123
a0050c0069t0001g0123
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.15817-13434_15817-
others(24): Show 
c.15817-13434_15817-13419dupGGGCCCCGCCCCCGCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39408924
chr1:39408942 G
G
 GCCCCGC
GCCCCGC
 5 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(2): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0040c0051t0001g0205
 5 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(2): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA19010.hp1
NA20129.hp1
 intron_variant MODIFIER c.15817-13423_15817-
others(14): Show 
c.15817-13423_15817-13418dupCCGCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39408942
chr1:39408951 C
C
 CCGCCCT
CCGCCCT
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-13420_15817-
others(14): Show 
c.15817-13420_15817-13415dupCCCTCG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39408951
chr1:39408967 T
T
 C
C
 245 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(242): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 245 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(242): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.15817-13407T>C
c.15817-13407T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408967
chr1:39408998 C
C
 T
T
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.15817-13376C>T
c.15817-13376C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39408998
chr1:39409020 GGGCGGCG
others(6): Show 
GGGCGGCGCAGCGC
 G
G
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.15817-13345_15817-
others(21): Show 
c.15817-13345_15817-13333delAGCGCGGCGGCGC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39409020
chr1:39409053 A
A
 G
G
 1 a0001c0001t0002g0032
a0001c0001t0002g0032
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.15817-13321A>G
c.15817-13321A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39409053
chr1:39409453 G
G
 T
T
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.15817-12921G>T
c.15817-12921G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39409453
chr1:39409555 G
G
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15817-12819G>T
c.15817-12819G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39409555
chr1:39409587 C
C
 T
T
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.15817-12787C>T
c.15817-12787C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39409587
chr1:39409592 G
G
 A
A
 1 a0003c0002t0001g0118
a0003c0002t0001g0118
 1 NA19083.hp2
NA19083.hp2
 intron_variant MODIFIER c.15817-12782G>A
c.15817-12782G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39409592
chr1:39409635 A
A
 G
G
 1 a0002c0003t0002g0188
a0002c0003t0002g0188
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-12739A>G
c.15817-12739A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39409635
chr1:39409722 C
C
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15817-12652C>T
c.15817-12652C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39409722
chr1:39410061 G
G
 T
T
 1 a0001c0001t0001g0105
a0001c0001t0001g0105
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.15817-12313G>T
c.15817-12313G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39410061
chr1:39410159 T
T
 G
G
 1 a0001c0001t0001g0048
a0001c0001t0001g0048
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.15817-12215T>G
c.15817-12215T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39410159
chr1:39410554 A
A
 G
G
 1 a0005c0009t0003g0214
a0005c0009t0003g0214
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.15817-11820A>G
c.15817-11820A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39410554
chr1:39410749 A
A
 T
T
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.15817-11625A>T
c.15817-11625A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39410749
chr1:39411044 C
C
 T
T
 1 a0018c0027t0001g0157
a0018c0027t0001g0157
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.15817-11330C>T
c.15817-11330C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39411044
chr1:39411823 C
C
 T
T
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.15817-10551C>T
c.15817-10551C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39411823
chr1:39411842 T
T
 C
C
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-10532T>C
c.15817-10532T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39411842
chr1:39411853 G
G
 C
C
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.15817-10521G>C
c.15817-10521G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39411853
chr1:39412104 A
A
 G
G
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.15817-10270A>G
c.15817-10270A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39412104
chr1:39412146 C
C
 T
T
 1 a0002c0004t0001g0199
a0002c0004t0001g0199
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.15817-10228C>T
c.15817-10228C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39412146
chr1:39412157 T
T
 C
C
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.15817-10217T>C
c.15817-10217T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39412157
chr1:39412343 A
A
 G
G
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.15817-10031A>G
c.15817-10031A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39412343
chr1:39412741 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15817-9633G>A
c.15817-9633G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39412741
chr1:39412895 C
C
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15817-9479C>G
c.15817-9479C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39412895
chr1:39413113 G
G
 A
A
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.15817-9261G>A
c.15817-9261G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413113
chr1:39413143 A
A
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-9231A>G
c.15817-9231A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413143
chr1:39413221 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.15817-9153G>A
c.15817-9153G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413221
chr1:39413266 GCCTCCCC
others(32): Show 
GCCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCA
 G
G
 1 a0008c0010t0001g0208
a0008c0010t0001g0208
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.15817-9045_15817-9
others(45): Show 
c.15817-9045_15817-9007delACCCCAGAGGAGCCCACCTCCCCA
GCTGCTGCAGTGCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39413266
chr1:39413329 A
A
 C
C
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.15817-9045A>C
c.15817-9045A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413329
chr1:39413368 C
C
 A
A
 1 a0001c0001t0001g0046
a0001c0001t0001g0046
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.15817-9006C>A
c.15817-9006C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413368
chr1:39413368 CCCCCAGA
others(32): Show 
CCCCCAGAGGAGCCCACCTCCCCAGCTGCTGCAGTGCCCA
 C
C
 64 a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
others(61): Show 
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0014c0021t0001g0226
a0014c0021t0001g0227
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0030c0060t0001g0241
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 64 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(61): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01106.hp1
HG01243.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-8796_15817-8
others(45): Show 
c.15817-8796_15817-8758delACCTCCCCAGCTGCTGCAGTGCCC
ACCCCAGAGGAGCCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39413368
chr1:39413418 G
G
 C
C
 2 a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0004t0001g0202
a0002c0004t0011g0194
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.15817-8956G>C
c.15817-8956G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413418
chr1:39413539 A
A
 G
G
 3 a0002c0003t0001g0186
a0002c0003t0001g0187
a0028c0050t0008g0233
a0002c0003t0001g0186
a0002c0003t0001g0187
a0028c0050t0008g0233
 3 HG02965.hp1
NA18953.hp2
NA18988.hp2
HG02965.hp1
NA18953.hp2
NA18988.hp2
 intron_variant MODIFIER c.15817-8835A>G
c.15817-8835A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413539
chr1:39413578 A
A
 ACCTCCCC
others(32): Show 
ACCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCG
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-8719_15817-8
others(45): Show 
c.15817-8719_15817-8681dupCGCCTCCCCAGCTGCTGCAGTGCC
CACCCCAGAGGAGCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39413578
chr1:39413578 A
A
 G
G
 57 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(54): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0044c0032t0001g0102
 57 HG00438.hp2
HG00597.hp1
HG00642.hp2
others(54): Show 
HG00438.hp2
HG00597.hp1
HG00642.hp2
HG00735.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp2
HG01346.hp2
HG01884.hp2
HG02015.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02572.hp2
HG02602.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG03927.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15817-8796A>G
c.15817-8796A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413578
chr1:39413578 ACCTCCCC
others(32): Show 
ACCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCG
 A
A
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.15817-8719_15817-8
others(45): Show 
c.15817-8719_15817-8681delCGCCTCCCCAGCTGCTGCAGTGCC
CACCCCAGAGGAGCC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39413578
chr1:39413598 G
G
 T
T
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.15817-8776G>T
c.15817-8776G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413598
chr1:39413668 G
G
 C
C
 1 a0003c0002t0001g0147
a0003c0002t0001g0147
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.15817-8706G>C
c.15817-8706G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413668
chr1:39413694 T
T
 C
C
 151 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(148): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 151 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(148): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15817-8680T>C
c.15817-8680T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413694
chr1:39413724 AGAGGAAT
others(32): Show 
AGAGGAATCCGCCTCCGCAGCTGTTGCAGTGCCCACCCCC
 A
A
 1 a0003c0002t0001g0147
a0003c0002t0001g0147
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.15817-8641_15817-8
others(45): Show 
c.15817-8641_15817-8603delCGCCTCCGCAGCTGTTGCAGTGCC
CACCCCCGAGGAATC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39413724
chr1:39413845 G
G
 A
A
 16 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(13): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
 16 HG01109.hp2
HG01884.hp2
HG02965.hp1
others(13): Show 
HG01109.hp2
HG01884.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15817-8529G>A
c.15817-8529G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39413845
chr1:39414228 C
C
 G
G
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.15817-8146C>G
c.15817-8146C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414228
chr1:39414306 C
C
 T
T
 1 a0002c0003t0002g0188
a0002c0003t0002g0188
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-8068C>T
c.15817-8068C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414306
chr1:39414341 T
T
 C
C
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.15817-8033T>C
c.15817-8033T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414341
chr1:39414491 T
T
 C
C
 1 a0001c0018t0002g0047
a0001c0018t0002g0047
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.15817-7883T>C
c.15817-7883T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414491
chr1:39414595 G
G
 A
A
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.15817-7779G>A
c.15817-7779G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414595
chr1:39414602 A
A
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-7772A>G
c.15817-7772A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414602
chr1:39414647 T
T
 G
G
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15817-7727T>G
c.15817-7727T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414647
chr1:39414757 T
T
 C
C
 2 a0003c0002t0001g0135
a0048c0065t0001g0141
a0003c0002t0001g0135
a0048c0065t0001g0141
 2 HG02135.hp2
NA19084.hp1
HG02135.hp2
NA19084.hp1
 intron_variant MODIFIER c.15817-7617T>C
c.15817-7617T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39414757
chr1:39415009 G
G
 A
A
 3 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
 3 NA18942.hp2
NA18969.hp2
NA18973.hp1
NA18942.hp2
NA18969.hp2
NA18973.hp1
 intron_variant MODIFIER c.15817-7365G>A
c.15817-7365G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415009
chr1:39415093 G
G
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-7281G>A
c.15817-7281G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415093
chr1:39415146 G
G
 A
A
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15817-7228G>A
c.15817-7228G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415146
chr1:39415191 A
A
 G
G
 1 a0011c0013t0001g0078
a0011c0013t0001g0078
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.15817-7183A>G
c.15817-7183A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415191
chr1:39415220 C
C
 A
A
 5 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(2): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 5 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(2): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
NA20805.hp1
 intron_variant MODIFIER c.15817-7154C>A
c.15817-7154C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415220
chr1:39415340 T
T
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.15817-7034T>A
c.15817-7034T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415340
chr1:39415368 G
G
 C
C
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15817-7006G>C
c.15817-7006G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415368
chr1:39415398 C
C
 T
T
 5 a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
others(2): Show 
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0096
 5 HG01346.hp1
HG01361.hp1
HG01952.hp2
others(2): Show 
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02273.hp1
 intron_variant MODIFIER c.15817-6976C>T
c.15817-6976C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415398
chr1:39415399 G
G
 A
A
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.15817-6975G>A
c.15817-6975G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415399
chr1:39415493 G
G
 A
A
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-6881G>A
c.15817-6881G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415493
chr1:39415525 AT
AT
 A
A
 20 a0002c0003t0002g0185
a0002c0003t0002g0246
a0002c0004t0001g0193
others(17): Show 
a0002c0003t0002g0185
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0023c0074t0001g0206
a0033c0053t0001g0200
a0042c0052t0001g0201
a0053c0077t0001g0020
 20 HG00639.hp2
HG01884.hp1
HG01884.hp2
others(17): Show 
HG00639.hp2
HG01884.hp1
HG01884.hp2
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
NA18906.hp2
NA18986.hp1
NA18987.hp2
 intron_variant MODIFIER c.15817-6831delT
c.15817-6831delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39415525
chr1:39415556 T
T
 C
C
 1 a0001c0001t0001g0018
a0001c0001t0001g0018
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.15817-6818T>C
c.15817-6818T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415556
chr1:39415661 G
G
 A
A
 2 a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0125
a0003c0002t0001g0131
 2 NA18960.hp2
NA19011.hp1
NA18960.hp2
NA19011.hp1
 intron_variant MODIFIER c.15817-6713G>A
c.15817-6713G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415661
chr1:39415796 T
T
 A
A
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15817-6578T>A
c.15817-6578T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39415796
chr1:39416329 C
C
 G
G
 41 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(38): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 41 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(38): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15817-6045C>G
c.15817-6045C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39416329
chr1:39416493 G
G
 GA
GA
 25 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(22): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
a0029c0061t0003g0232
a0033c0053t0001g0200
a0042c0052t0001g0201
 25 HG00639.hp2
HG00642.hp1
HG01884.hp1
others(22): Show 
HG00639.hp2
HG00642.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03195.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-5868dupA
c.15817-5868dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39416493
chr1:39416532 T
T
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-5842T>C
c.15817-5842T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39416532
chr1:39416611 A
A
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15817-5763A>C
c.15817-5763A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39416611
chr1:39416676 C
C
 T
T
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-5698C>T
c.15817-5698C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39416676
chr1:39416708 C
C
 G
G
 2 a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0159
a0003c0002t0001g0160
 2 NA18980.hp2
NA19000.hp2
NA18980.hp2
NA19000.hp2
 intron_variant MODIFIER c.15817-5666C>G
c.15817-5666C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39416708
chr1:39416856 G
G
 C
C
 3 a0002c0003t0002g0127
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0127
a0002c0003t0002g0228
a0002c0003t0002g0230
 3 HG02071.hp1
HG02165.hp2
NA19086.hp1
HG02071.hp1
HG02165.hp2
NA19086.hp1
 intron_variant MODIFIER c.15817-5518G>C
c.15817-5518G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39416856
chr1:39416984 A
A
 G
G
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.15817-5390A>G
c.15817-5390A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39416984
chr1:39417151 A
A
 G
G
 2 a0015c0022t0001g0005
a0015c0022t0001g0007
a0015c0022t0001g0005
a0015c0022t0001g0007
 2 HG02572.hp2
NA18522.hp2
HG02572.hp2
NA18522.hp2
 intron_variant MODIFIER c.15817-5223A>G
c.15817-5223A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417151
chr1:39417323 A
A
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.15817-5051A>G
c.15817-5051A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417323
chr1:39417348 GA
GA
 G
G
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15817-5019delA
c.15817-5019delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417348
chr1:39417444 T
T
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.15817-4930T>A
c.15817-4930T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417444
chr1:39417554 G
G
 GT
GT
 12 a0001c0001t0001g0017
a0001c0001t0001g0041
a0006c0005t0001g0234
others(9): Show 
a0001c0001t0001g0017
a0001c0001t0001g0041
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 12 HG01106.hp1
HG01346.hp1
HG02074.hp1
others(9): Show 
HG01106.hp1
HG01346.hp1
HG02074.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-4809dupT
c.15817-4809dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417554
chr1:39417641 G
G
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15817-4733G>A
c.15817-4733G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417641
chr1:39417647 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15817-4727A>G
c.15817-4727A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417647
chr1:39417712 A
A
 ATTT
ATTT
 4 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0018t0002g0036
others(1): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0018t0002g0036
a0051c0045t0012g0022
 4 HG00544.hp2
HG02135.hp1
NA18974.hp2
others(1): Show 
HG00544.hp2
HG02135.hp1
NA18974.hp2
NA19083.hp1
 intron_variant MODIFIER c.15817-4662_15817-4
others(9): Show 
c.15817-4662_15817-4661insTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417712
chr1:39417712 A
A
 C
C
 3 a0003c0002t0001g0118
a0003c0002t0001g0126
a0003c0066t0001g0117
a0003c0002t0001g0118
a0003c0002t0001g0126
a0003c0066t0001g0117
 3 HG02074.hp2
HG02129.hp1
NA19083.hp2
HG02074.hp2
HG02129.hp1
NA19083.hp2
 intron_variant MODIFIER c.15817-4662A>C
c.15817-4662A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417712
chr1:39417713 A
A
 AT
AT
 20 a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0025
others(17): Show 
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0043
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0053
a0001c0001t0001g0070
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0107
a0001c0001t0002g0088
a0001c0017t0001g0029
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0074
a0004c0038t0001g0084
a0044c0032t0001g0102
 20 HG00140.hp1
HG00558.hp1
HG00733.hp1
others(17): Show 
HG00140.hp1
HG00558.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01081.hp2
HG01109.hp1
HG01261.hp2
HG01981.hp1
HG02015.hp2
HG02071.hp2
HG02486.hp2
HG03041.hp2
HG03490.hp2
HG04204.hp2
NA18969.hp2
NA18973.hp1
NA18980.hp1
NA19085.hp1
NA19091.hp2
 intron_variant MODIFIER c.15817-4625dupT
c.15817-4625dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 A
A
 T
T
 9 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
others(6): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0051c0045t0012g0022
 9 HG00544.hp2
HG00597.hp2
HG00609.hp2
others(6): Show 
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG02135.hp1
NA18953.hp1
NA18974.hp2
NA18995.hp1
NA18999.hp1
NA19083.hp1
 intron_variant MODIFIER c.15817-4661A>T
c.15817-4661A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417713
chr1:39417713 AT
AT
 A
A
 15 a0001c0001t0001g0051
a0001c0001t0001g0105
a0001c0012t0001g0060
others(12): Show 
a0001c0001t0001g0051
a0001c0001t0001g0105
a0001c0012t0001g0060
a0001c0034t0001g0090
a0001c0062t0001g0006
a0004c0006t0001g0083
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0078
a0017c0020t0001g0086
a0032c0043t0001g0064
a0041c0033t0001g0055
a0046c0044t0001g0100
 15 HG00280.hp2
HG01106.hp2
HG01433.hp1
others(12): Show 
HG00280.hp2
HG01106.hp2
HG01433.hp1
HG02040.hp1
HG02132.hp1
HG02155.hp1
HG02257.hp2
HG03195.hp1
HG03239.hp1
HG03704.hp1
HG03704.hp2
NA18960.hp1
NA18975.hp1
NA19030.hp2
NA19240.hp2
 intron_variant MODIFIER c.15817-4625delT
c.15817-4625delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTT
ATTTT
 A
A
 12 a0002c0004t0001g0196
a0002c0004t0001g0199
a0002c0004t0001g0202
others(9): Show 
a0002c0004t0001g0196
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0240
a0009c0014t0010g0225
 12 HG02145.hp2
HG02647.hp1
HG02818.hp1
others(9): Show 
HG02145.hp2
HG02647.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03471.hp2
HG03516.hp2
HG04204.hp1
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-4628_15817-4
others(10): Show 
c.15817-4628_15817-4625delTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTT
ATTTTT
 A
A
 27 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0197
others(24): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0197
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0118
a0003c0002t0001g0122
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0139
a0003c0002t0001g0160
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0239
a0010c0016t0004g0140
a0018c0027t0001g0158
a0030c0060t0001g0241
a0033c0053t0001g0200
a0040c0051t0001g0205
a0045c0070t0001g0144
a0048c0065t0001g0141
 27 HG00544.hp1
HG00558.hp2
HG00642.hp2
others(24): Show 
HG00544.hp1
HG00558.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01884.hp1
HG02074.hp2
HG02135.hp2
HG02572.hp1
HG02602.hp1
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02896.hp2
HG02922.hp1
HG02976.hp2
HG03486.hp2
HG03540.hp1
HG03927.hp2
NA18906.hp2
NA18942.hp1
NA18973.hp2
NA18995.hp2
NA19000.hp2
NA19010.hp1
NA19083.hp2
 intron_variant MODIFIER c.15817-4629_15817-4
others(11): Show 
c.15817-4629_15817-4625delTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTT
ATTTTTT
 A
A
 38 a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0039t0001g0073
others(35): Show 
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0039t0001g0073
a0003c0002t0001g0115
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0066t0001g0117
a0003c0071t0001g0120
a0006c0005t0001g0237
a0006c0005t0001g0242
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0019c0028t0001g0130
a0019c0028t0001g0132
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 38 HG00280.hp1
HG00609.hp1
HG00639.hp1
others(35): Show 
HG00280.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG01099.hp2
HG01106.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02129.hp1
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG03239.hp2
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18943.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18974.hp1
NA18980.hp2
NA18999.hp2
NA19011.hp1
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15817-4630_15817-4
others(12): Show 
c.15817-4630_15817-4625delTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
ATTTTTTT
 A
A
 7 a0003c0002t0001g0148
a0003c0002t0001g0161
a0004c0011t0003g0167
others(4): Show 
a0003c0002t0001g0148
a0003c0002t0001g0161
a0004c0011t0003g0167
a0006c0005t0001g0243
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02602.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02602.hp2
HG02896.hp1
HG02897.hp1
NA18954.hp2
NA18975.hp2
 intron_variant MODIFIER c.15817-4631_15817-4
others(13): Show 
c.15817-4631_15817-4625delTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(5): Show 
ATTTTTTTTTTTT
 A
A
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.15817-4636_15817-4
others(18): Show 
c.15817-4636_15817-4625delTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(6): Show 
ATTTTTTTTTTTTT
 A
A
 2 a0026c0049t0001g0002
a0037c0058t0001g0245
a0026c0049t0001g0002
a0037c0058t0001g0245
 2 HG01243.hp2
NA20129.hp2
HG01243.hp2
NA20129.hp2
 intron_variant MODIFIER c.15817-4637_15817-4
others(19): Show 
c.15817-4637_15817-4625delTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(7): Show 
ATTTTTTTTTTTTTT
 A
A
 5 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(2): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0036c0048t0001g0008
 5 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(2): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.15817-4638_15817-4
others(20): Show 
c.15817-4638_15817-4625delTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(9): Show 
ATTTTTTTTTTTTTTTT
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.15817-4640_15817-4
others(22): Show 
c.15817-4640_15817-4625delTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(10): Show 
ATTTTTTTTTTTTTTTTT
 A
A
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.15817-4641_15817-4
others(23): Show 
c.15817-4641_15817-4625delTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(11): Show 
ATTTTTTTTTTTTTTTTTT
 A
A
 16 a0003c0002t0002g0137
a0005c0009t0003g0214
a0005c0009t0003g0215
others(13): Show 
a0003c0002t0002g0137
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
 16 HG01109.hp2
HG01884.hp2
HG02965.hp1
others(13): Show 
HG01109.hp2
HG01884.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18990.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15817-4642_15817-4
others(24): Show 
c.15817-4642_15817-4625delTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(12): Show 
ATTTTTTTTTTTTTTTTTTT
 A
A
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-4643_15817-4
others(25): Show 
c.15817-4643_15817-4625delTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417713 ATTTTTTT
others(15): Show 
ATTTTTTTTTTTTTTTTTTTTTT
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15817-4646_15817-4
others(28): Show 
c.15817-4646_15817-4625delTTTTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39417713
chr1:39417731 T
T
 A
A
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.15817-4643T>A
c.15817-4643T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417731
chr1:39417751 G
G
 T
T
 245 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(242): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 245 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(242): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.15817-4623G>T
c.15817-4623G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417751
chr1:39417818 T
T
 C
C
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.15817-4556T>C
c.15817-4556T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39417818
chr1:39418018 A
A
 C
C
 1 a0003c0002t0001g0119
a0003c0002t0001g0119
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.15817-4356A>C
c.15817-4356A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39418018
chr1:39418160 G
G
 A
A
 1 a0001c0018t0002g0047
a0001c0018t0002g0047
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.15817-4214G>A
c.15817-4214G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39418160
chr1:39418435 A
A
 G
G
 2 a0001c0001t0001g0071
a0001c0041t0001g0072
a0001c0001t0001g0071
a0001c0041t0001g0072
 2 HG02723.hp2
HG02886.hp1
HG02723.hp2
HG02886.hp1
 intron_variant MODIFIER c.15817-3939A>G
c.15817-3939A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39418435
chr1:39418465 C
C
 T
T
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15817-3909C>T
c.15817-3909C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39418465
chr1:39418599 A
A
 G
G
 1 a0006c0005t0001g0242
a0006c0005t0001g0242
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.15817-3775A>G
c.15817-3775A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39418599
chr1:39418761 A
A
 G
G
 139 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(136): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 139 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(136): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15817-3613A>G
c.15817-3613A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39418761
chr1:39418862 C
C
 CA
CA
 10 a0001c0001t0006g0066
a0003c0002t0001g0161
a0004c0006t0001g0049
others(7): Show 
a0001c0001t0006g0066
a0003c0002t0001g0161
a0004c0006t0001g0049
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0036c0048t0001g0008
a0052c0046t0001g0068
 10 HG01069.hp1
HG02486.hp2
HG02976.hp1
others(7): Show 
HG01069.hp1
HG02486.hp2
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA18954.hp2
NA19030.hp1
NA21309.hp2
 intron_variant MODIFIER c.15817-3499dupA
c.15817-3499dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39418862
chr1:39418862 C
C
 CAA
CAA
 13 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
others(10): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0012t0001g0060
a0001c0037t0001g0095
a0001c0041t0001g0072
a0032c0043t0001g0064
a0044c0032t0001g0102
 13 HG00140.hp2
HG00741.hp2
HG01261.hp2
others(10): Show 
HG00140.hp2
HG00741.hp2
HG01261.hp2
HG02015.hp2
HG02040.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
NA18943.hp1
NA18980.hp1
 intron_variant MODIFIER c.15817-3500_15817-3
others(8): Show 
c.15817-3500_15817-3499dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39418862
chr1:39418862 CA
CA
 C
C
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-3499delA
c.15817-3499delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39418862
chr1:39419498 GTATT
GTATT
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-2873_15817-2
others(10): Show 
c.15817-2873_15817-2870delTTTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419498
chr1:39419689 G
G
 A
A
 1 a0016c0026t0001g0174
a0016c0026t0001g0174
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.15817-2685G>A
c.15817-2685G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39419689
chr1:39419772 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.15817-2602A>G
c.15817-2602A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39419772
chr1:39419798 A
A
 AGT
AGT
 37 a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
others(34): Show 
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0031
a0001c0001t0001g0042
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0098
a0001c0001t0001g0105
a0001c0037t0001g0095
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0002g0113
a0002c0004t0001g0199
a0004c0006t0001g0069
a0004c0019t0001g0050
a0004c0019t0001g0052
a0005c0008t0001g0207
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0006c0005t0001g0234
a0006c0005t0001g0242
a0007c0007t0002g0054
a0007c0007t0002g0057
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0024c0076t0003g0222
a0029c0061t0003g0232
a0033c0053t0001g0200
a0040c0051t0001g0205
a0052c0046t0001g0068
 37 HG00140.hp2
HG00438.hp1
HG00642.hp1
others(34): Show 
HG00140.hp2
HG00438.hp1
HG00642.hp1
HG00741.hp2
HG01069.hp1
HG01261.hp2
HG01952.hp2
HG02040.hp1
HG02074.hp1
HG02132.hp1
HG02155.hp1
HG02257.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02818.hp1
HG02886.hp1
HG02965.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03239.hp2
HG03486.hp1
HG03540.hp1
HG04115.hp2
HG06807.hp2
NA18981.hp2
NA18986.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA19080.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.15817-2533_15817-2
others(8): Show 
c.15817-2533_15817-2532dupGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 A
A
 AGTGT
AGTGT
 29 a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0070
others(26): Show 
a0001c0001t0001g0027
a0001c0001t0001g0048
a0001c0001t0001g0070
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0040t0001g0014
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0025t0001g0191
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0156
a0004c0006t0001g0049
a0004c0006t0001g0074
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0047t0001g0189
a0023c0074t0001g0206
a0041c0033t0001g0055
a0045c0070t0001g0144
a0050c0069t0001g0123
 29 HG00140.hp1
HG00733.hp2
HG01069.hp2
others(26): Show 
HG00140.hp1
HG00733.hp2
HG01069.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG01981.hp1
HG02055.hp1
HG02145.hp1
HG02145.hp2
HG02486.hp2
HG02738.hp1
HG03130.hp2
HG03516.hp1
HG03579.hp1
HG03927.hp1
NA18522.hp1
NA18939.hp2
NA18953.hp2
NA18975.hp2
NA18988.hp2
NA18999.hp2
NA19043.hp2
NA19084.hp2
NA19085.hp1
NA19088.hp2
 intron_variant MODIFIER c.15817-2535_15817-2
others(10): Show 
c.15817-2535_15817-2532dupGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 A
A
 AGTGTGT
AGTGTGT
 22 a0001c0001t0001g0071
a0002c0003t0002g0093
a0002c0003t0002g0188
others(19): Show 
a0001c0001t0001g0071
a0002c0003t0002g0093
a0002c0003t0002g0188
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0175
a0003c0002t0001g0115
a0003c0002t0001g0135
a0003c0002t0001g0151
a0003c0002t0001g0154
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0010c0016t0004g0145
a0019c0028t0001g0132
a0025c0030t0001g0067
a0048c0065t0001g0141
 22 HG00438.hp2
HG01884.hp1
HG02132.hp2
others(19): Show 
HG00438.hp2
HG01884.hp1
HG02132.hp2
HG02135.hp2
HG02280.hp2
HG02523.hp2
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp2
HG02976.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
NA18906.hp1
NA18962.hp2
NA19084.hp1
NA20805.hp2
 intron_variant MODIFIER c.15817-2537_15817-2
others(12): Show 
c.15817-2537_15817-2532dupGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 A
A
 AGTGTGTG
others(1): Show 
AGTGTGTGT
 23 a0001c0012t0001g0058
a0002c0003t0002g0182
a0002c0004t0001g0195
others(20): Show 
a0001c0012t0001g0058
a0002c0003t0002g0182
a0002c0004t0001g0195
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0015t0002g0112
a0002c0024t0001g0203
a0002c0025t0001g0001
a0003c0002t0001g0121
a0003c0002t0001g0139
a0003c0002t0001g0152
a0005c0009t0003g0218
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0010g0225
a0010c0016t0004g0136
a0010c0064t0004g0133
a0016c0026t0001g0173
a0017c0020t0001g0085
a0028c0050t0008g0233
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 23 HG00544.hp1
HG00609.hp1
HG01081.hp1
others(20): Show 
HG00544.hp1
HG00609.hp1
HG01081.hp1
HG01952.hp1
HG02040.hp2
HG02129.hp2
HG02155.hp2
HG02165.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02965.hp1
HG03041.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp2
NA18906.hp2
NA18974.hp1
NA18981.hp1
NA18983.hp1
NA18987.hp1
 intron_variant MODIFIER c.15817-2539_15817-2
others(14): Show 
c.15817-2539_15817-2532dupGTGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 A
A
 AGTGTGTG
others(3): Show 
AGTGTGTGTGT
 20 a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0004t0001g0196
others(17): Show 
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0004t0001g0196
a0002c0015t0002g0172
a0002c0024t0001g0198
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0138
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0150
a0003c0002t0001g0155
a0003c0002t0001g0159
a0017c0020t0001g0086
a0019c0028t0001g0130
a0042c0052t0001g0201
a0047c0068t0001g0129
a0049c0067t0001g0116
 20 HG00280.hp1
HG00639.hp1
HG00639.hp2
others(17): Show 
HG00280.hp1
HG00639.hp1
HG00639.hp2
HG01099.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG02071.hp1
HG02074.hp2
HG02165.hp2
HG02257.hp1
HG02647.hp1
NA18942.hp1
NA18966.hp2
NA18971.hp2
NA18980.hp2
NA19011.hp2
NA19083.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.15817-2541_15817-2
others(16): Show 
c.15817-2541_15817-2532dupGTGTGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 A
A
 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 16 a0002c0003t0002g0127
a0002c0003t0002g0185
a0002c0004t0001g0193
others(13): Show 
a0002c0003t0002g0127
a0002c0003t0002g0185
a0002c0004t0001g0193
a0003c0002t0001g0114
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0149
a0003c0002t0001g0153
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
 16 HG00741.hp1
HG01261.hp1
HG01981.hp2
others(13): Show 
HG00741.hp1
HG01261.hp1
HG01981.hp2
HG02004.hp1
HG02129.hp1
HG02896.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp1
NA18969.hp1
NA18986.hp1
NA18990.hp2
NA18995.hp2
NA19000.hp2
NA19002.hp2
NA19086.hp1
 intron_variant MODIFIER c.15817-2543_15817-2
others(18): Show 
c.15817-2543_15817-2532dupGTGTGTGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 A
A
 AGTGTGTG
others(7): Show 
AGTGTGTGTGTGTGT
 6 a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0142
others(3): Show 
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0142
a0003c0071t0001g0120
a0010c0016t0004g0140
a0018c0027t0001g0157
 6 HG00558.hp2
HG02015.hp1
HG02273.hp2
others(3): Show 
HG00558.hp2
HG02015.hp1
HG02273.hp2
NA18943.hp2
NA19011.hp1
NA19085.hp2
 intron_variant MODIFIER c.15817-2545_15817-2
others(20): Show 
c.15817-2545_15817-2532dupGTGTGTGTGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 A
A
 AGTGTGTG
others(9): Show 
AGTGTGTGTGTGTGTGT
 1 a0018c0027t0001g0158
a0018c0027t0001g0158
 1 NA18973.hp2
NA18973.hp2
 intron_variant MODIFIER c.15817-2547_15817-2
others(22): Show 
c.15817-2547_15817-2532dupGTGTGTGTGTGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 AGT
AGT
 A
A
 12 a0001c0001t0001g0040
a0001c0001t0002g0034
a0001c0001t0006g0066
others(9): Show 
a0001c0001t0001g0040
a0001c0001t0002g0034
a0001c0001t0006g0066
a0003c0002t0001g0108
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0244
a0030c0060t0001g0241
a0037c0058t0001g0245
 12 HG00597.hp2
HG01243.hp2
HG02273.hp1
others(9): Show 
HG00597.hp2
HG01243.hp2
HG02273.hp1
HG02572.hp1
HG02602.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
NA21309.hp2
 intron_variant MODIFIER c.15817-2533_15817-2
others(8): Show 
c.15817-2533_15817-2532delGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 AGTGT
AGTGT
 A
A
 5 a0001c0034t0001g0090
a0004c0011t0003g0167
a0004c0011t0003g0169
others(2): Show 
a0001c0034t0001g0090
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 5 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(2): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.15817-2535_15817-2
others(10): Show 
c.15817-2535_15817-2532delGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 AGTGTGT
AGTGTGT
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.15817-2537_15817-2
others(12): Show 
c.15817-2537_15817-2532delGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 AGTGTGTG
others(1): Show 
AGTGTGTGT
 A
A
 9 a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
others(6): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0043c0057t0001g0168
 9 HG01243.hp1
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp1
HG02109.hp1
HG02572.hp2
HG02896.hp1
HG02897.hp1
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15817-2539_15817-2
others(14): Show 
c.15817-2539_15817-2532delGTGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419798 AGTGTGTG
others(5): Show 
AGTGTGTGTGTGT
 A
A
 1 a0002c0003t0002g0044
a0002c0003t0002g0044
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.15817-2543_15817-2
others(18): Show 
c.15817-2543_15817-2532delGTGTGTGTGTGT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39419798
chr1:39419838 T
T
 C
C
 1 a0026c0049t0001g0002
a0026c0049t0001g0002
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.15817-2536T>C
c.15817-2536T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39419838
chr1:39419839 G
G
 A
A
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.15817-2535G>A
c.15817-2535G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39419839
chr1:39420091 G
G
 A
A
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.15817-2283G>A
c.15817-2283G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39420091
chr1:39420210 A
A
 G
G
 1 a0001c0062t0001g0006
a0001c0062t0001g0006
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.15817-2164A>G
c.15817-2164A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39420210
chr1:39420305 T
T
 A
A
 13 a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
others(10): Show 
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0025c0030t0001g0067
a0052c0046t0001g0068
 13 HG00140.hp1
HG00280.hp2
HG01069.hp1
others(10): Show 
HG00140.hp1
HG00280.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG02280.hp2
HG02486.hp2
HG02683.hp2
HG03209.hp1
HG03490.hp2
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.15817-2069T>A
c.15817-2069T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39420305
chr1:39420490 T
T
 C
C
 3 a0003c0002t0001g0118
a0003c0002t0001g0126
a0003c0066t0001g0117
a0003c0002t0001g0118
a0003c0002t0001g0126
a0003c0066t0001g0117
 3 HG02074.hp2
HG02129.hp1
NA19083.hp2
HG02074.hp2
HG02129.hp1
NA19083.hp2
 intron_variant MODIFIER c.15817-1884T>C
c.15817-1884T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39420490
chr1:39420546 C
C
 T
T
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.15817-1828C>T
c.15817-1828C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39420546
chr1:39420864 A
A
 AT
AT
 48 a0001c0001t0001g0040
a0001c0001t0001g0103
a0001c0012t0001g0059
others(45): Show 
a0001c0001t0001g0040
a0001c0001t0001g0103
a0001c0012t0001g0059
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0002t0001g0119
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0046c0044t0001g0100
 48 HG00438.hp2
HG01069.hp2
HG01081.hp1
others(45): Show 
HG00438.hp2
HG01069.hp2
HG01081.hp1
HG01106.hp1
HG01167.hp2
HG01346.hp2
HG02055.hp2
HG02071.hp1
HG02109.hp2
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02280.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03239.hp2
HG03491.hp2
HG03516.hp2
HG03579.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp1
NA18953.hp2
NA18954.hp1
NA18969.hp1
NA18975.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18988.hp2
NA19000.hp1
NA19002.hp2
NA19010.hp1
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp2
 intron_variant MODIFIER c.15817-1491dupT
c.15817-1491dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39420864
chr1:39420864 A
A
 ATT
ATT
 43 a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0004t0001g0010
others(40): Show 
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0004t0001g0010
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0033c0053t0001g0200
a0042c0052t0001g0201
 43 HG00597.hp1
HG00639.hp2
HG00642.hp1
others(40): Show 
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG02132.hp2
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18962.hp2
NA18987.hp1
NA19011.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.15817-1492_15817-1
others(8): Show 
c.15817-1492_15817-1491dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39420864
chr1:39420864 AT
AT
 A
A
 12 a0001c0001t0001g0043
a0001c0001t0002g0033
a0001c0037t0001g0095
others(9): Show 
a0001c0001t0001g0043
a0001c0001t0002g0033
a0001c0037t0001g0095
a0003c0002t0001g0159
a0004c0006t0001g0077
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0039c0042t0001g0021
 12 HG00733.hp1
HG01099.hp1
HG02109.hp1
others(9): Show 
HG00733.hp1
HG01099.hp1
HG02109.hp1
HG02572.hp2
HG02615.hp2
HG03453.hp2
NA18522.hp2
NA18953.hp1
NA18962.hp1
NA18980.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.15817-1491delT
c.15817-1491delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39420864
chr1:39420887 A
A
 G
G
 1 a0003c0071t0001g0120
a0003c0071t0001g0120
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.15817-1487A>G
c.15817-1487A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39420887
chr1:39421010 T
T
 C
C
 1 a0004c0006t0001g0077
a0004c0006t0001g0077
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.15817-1364T>C
c.15817-1364T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39421010
chr1:39421101 A
A
 G
G
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.15817-1273A>G
c.15817-1273A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39421101
chr1:39421154 T
T
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-1220T>C
c.15817-1220T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39421154
chr1:39421268 A
A
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-1106A>G
c.15817-1106A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39421268
chr1:39421290 A
A
 G
G
 4 a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0031t0001g0106
 4 NA18939.hp1
NA18981.hp2
NA18983.hp2
others(1): Show 
NA18939.hp1
NA18981.hp2
NA18983.hp2
NA19091.hp2
 intron_variant MODIFIER c.15817-1084A>G
c.15817-1084A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39421290
chr1:39421999 C
C
 T
T
 6 a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
others(3): Show 
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
 6 HG00140.hp1
HG00280.hp2
HG01099.hp1
others(3): Show 
HG00140.hp1
HG00280.hp2
HG01099.hp1
HG02683.hp2
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.15817-375C>T
c.15817-375C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39421999
chr1:39422006 C
C
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.15817-368C>A
c.15817-368C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39422006
chr1:39422062 G
G
 A
A
 2 a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0180
a0002c0003t0002g0181
 2 HG01167.hp2
HG01346.hp2
HG01167.hp2
HG01346.hp2
 intron_variant MODIFIER c.15817-312G>A
c.15817-312G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39422062
chr1:39422083 A
A
 G
G
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.15817-291A>G
c.15817-291A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 chr1 39422083
chr1:39422093 AT
AT
 A
A
 3 a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
 3 NA18942.hp2
NA18969.hp2
NA18973.hp1
NA18942.hp2
NA18969.hp2
NA18973.hp1
 intron_variant MODIFIER c.15817-279delT
c.15817-279delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 58/100 INFO_REALIGN_3_PRIME chr1 39422093
chr1:39422632 A
A
 G
G
 1 a0031c0059t0002g0177
a0031c0059t0002g0177
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.15978+97A>G
c.15978+97A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 59/100 chr1 39422632
chr1:39422695 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.15979-35C>T
c.15979-35C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 59/100 chr1 39422695
chr1:39423038 G
G
 A
A
 1 a0017c0020t0001g0085
a0017c0020t0001g0085
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.16149+138G>A
c.16149+138G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423038
chr1:39423103 T
T
 A
A
 1 a0002c0004t0001g0012
a0002c0004t0001g0012
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.16149+203T>A
c.16149+203T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423103
chr1:39423141 A
A
 G
G
 1 a0003c0002t0001g0148
a0003c0002t0001g0148
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.16149+241A>G
c.16149+241A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423141
chr1:39423431 C
C
 T
T
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.16149+531C>T
c.16149+531C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423431
chr1:39423508 G
G
 A
A
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.16150-520G>A
c.16150-520G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423508
chr1:39423576 A
A
 G
G
 1 a0001c0001t0002g0032
a0001c0001t0002g0032
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.16150-452A>G
c.16150-452A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423576
chr1:39423634 C
C
 CA
CA
 59 a0001c0001t0001g0015
a0001c0001t0001g0051
a0001c0001t0001g0053
others(56): Show 
a0001c0001t0001g0015
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0003c0002t0001g0121
a0003c0002t0001g0124
a0003c0002t0001g0149
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0003g0213
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0052c0046t0001g0068
 59 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(56): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00558.hp2
HG00609.hp1
HG00741.hp2
HG01069.hp1
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01261.hp1
HG01433.hp1
HG01952.hp1
HG01981.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02129.hp2
HG02132.hp1
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04204.hp2
NA18522.hp1
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18975.hp1
NA18980.hp1
NA19000.hp1
NA19030.hp2
NA19080.hp2
NA19083.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.16150-376dupA
c.16150-376dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 INFO_REALIGN_3_PRIME chr1 39423634
chr1:39423634 C
C
 CAA
CAA
 5 a0001c0001t0001g0018
a0001c0001t0006g0066
a0001c0034t0001g0090
others(2): Show 
a0001c0001t0001g0018
a0001c0001t0006g0066
a0001c0034t0001g0090
a0004c0006t0001g0069
a0004c0019t0001g0052
 5 HG01261.hp2
HG03195.hp1
HG03209.hp1
others(2): Show 
HG01261.hp2
HG03195.hp1
HG03209.hp1
HG04115.hp2
NA21309.hp2
 intron_variant MODIFIER c.16150-377_16150-37
others(6): Show 
c.16150-377_16150-376dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 INFO_REALIGN_3_PRIME chr1 39423634
chr1:39423652 AT
AT
 A
A
 5 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(2): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0227
 5 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(2): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.16150-375delT
c.16150-375delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423652
chr1:39423653 T
T
 A
A
 1 a0003c0002t0001g0115
a0003c0002t0001g0115
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.16150-375T>A
c.16150-375T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423653
chr1:39423671 T
T
 C
C
 1 a0003c0002t0001g0119
a0003c0002t0001g0119
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.16150-357T>C
c.16150-357T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423671
chr1:39423693 G
G
 A
A
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.16150-335G>A
c.16150-335G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423693
chr1:39423901 A
A
 G
G
 6 a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
others(3): Show 
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0033c0053t0001g0200
a0042c0052t0001g0201
 6 HG02257.hp1
HG02717.hp1
HG02818.hp1
others(3): Show 
HG02257.hp1
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG03540.hp1
 intron_variant MODIFIER c.16150-127A>G
c.16150-127A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423901
chr1:39423910 T
T
 C
C
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.16150-118T>C
c.16150-118T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39423910
chr1:39424005 G
G
 A
A
 151 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(148): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 151 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(148): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.16150-23G>A
c.16150-23G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39424005
chr1:39424006 C
C
 T
T
 3 a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 3 HG01069.hp2
HG03041.hp1
HG03579.hp1
HG01069.hp2
HG03041.hp1
HG03579.hp1
 intron_variant MODIFIER c.16150-22C>T
c.16150-22C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 60/100 chr1 39424006
chr1:39425142 C
C
 G
G
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.16316+948C>G
c.16316+948C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39425142
chr1:39425222 A
A
 C
C
 1 a0001c0001t0001g0089
a0001c0001t0001g0089
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.16316+1028A>C
c.16316+1028A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39425222
chr1:39425484 G
G
 A
A
 2 a0001c0001t0001g0023
a0003c0002t0001g0160
a0001c0001t0001g0023
a0003c0002t0001g0160
 2 NA19000.hp2
NA19010.hp2
NA19000.hp2
NA19010.hp2
 intron_variant MODIFIER c.16316+1290G>A
c.16316+1290G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39425484
chr1:39425670 T
T
 C
C
 1 a0001c0012t0001g0058
a0001c0012t0001g0058
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.16316+1476T>C
c.16316+1476T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39425670
chr1:39425981 A
A
 G
G
 2 a0015c0022t0001g0005
a0015c0022t0001g0007
a0015c0022t0001g0005
a0015c0022t0001g0007
 2 HG02572.hp2
NA18522.hp2
HG02572.hp2
NA18522.hp2
 intron_variant MODIFIER c.16317-1474A>G
c.16317-1474A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39425981
chr1:39426107 A
A
 G
G
 5 a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
others(2): Show 
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0030c0060t0001g0241
 5 HG02572.hp1
HG02922.hp1
HG02976.hp2
others(2): Show 
HG02572.hp1
HG02922.hp1
HG02976.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.16317-1348A>G
c.16317-1348A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39426107
chr1:39426426 C
C
 T
T
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.16317-1029C>T
c.16317-1029C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39426426
chr1:39426439 A
A
 G
G
 1 a0006c0005t0001g0235
a0006c0005t0001g0235
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.16317-1016A>G
c.16317-1016A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39426439
chr1:39426494 A
A
 G
G
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.16317-961A>G
c.16317-961A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39426494
chr1:39426769 G
G
 GT
GT
 30 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
others(27): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0002g0088
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0002c0003t0002g0231
a0016c0026t0001g0173
a0016c0026t0001g0174
a0039c0042t0001g0021
a0053c0077t0001g0020
 30 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(27): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02273.hp1
HG04204.hp2
NA18939.hp1
NA18942.hp2
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19002.hp1
NA19010.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
 intron_variant MODIFIER c.16317-677dupT
c.16317-677dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 INFO_REALIGN_3_PRIME chr1 39426769
chr1:39426781 G
G
 A
A
 5 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(2): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
 5 HG02976.hp1
HG03098.hp2
HG03471.hp1
others(2): Show 
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
 intron_variant MODIFIER c.16317-674G>A
c.16317-674G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39426781
chr1:39426784 G
G
 A
A
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.16317-671G>A
c.16317-671G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39426784
chr1:39427102 T
T
 C
C
 151 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(148): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 151 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(148): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.16317-353T>C
c.16317-353T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39427102
chr1:39427193 T
T
 G
G
 7 a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
others(4): Show 
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0034t0001g0090
a0001c0062t0001g0006
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
 7 HG02055.hp1
HG02145.hp1
HG02257.hp2
others(4): Show 
HG02055.hp1
HG02145.hp1
HG02257.hp2
HG03098.hp1
HG03195.hp1
HG03486.hp1
NA19030.hp2
 intron_variant MODIFIER c.16317-262T>G
c.16317-262T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39427193
chr1:39427421 C
C
 T
T
 137 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(134): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 137 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(134): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.16317-34C>T
c.16317-34C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 61/100 chr1 39427421
chr1:39427851 G
G
 A
A
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.16477-110G>A
c.16477-110G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 62/100 chr1 39427851
chr1:39427912 T
T
 C
C
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.16477-49T>C
c.16477-49T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 62/100 chr1 39427912
chr1:39428361 T
T
 A
A
 1 a0003c0002t0001g0148
a0003c0002t0001g0148
 1 NA18975.hp2
NA18975.hp2
 intron_variant MODIFIER c.16803+74T>A
c.16803+74T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39428361
chr1:39428484 A
A
 G
G
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.16803+197A>G
c.16803+197A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39428484
chr1:39428612 A
A
 G
G
 3 a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
 3 HG00642.hp2
HG00735.hp2
NA20805.hp1
HG00642.hp2
HG00735.hp2
NA20805.hp1
 intron_variant MODIFIER c.16803+325A>G
c.16803+325A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39428612
chr1:39428709 G
G
 A
A
 2 a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0019t0001g0050
a0004c0019t0001g0052
 2 HG02683.hp2
HG04115.hp2
HG02683.hp2
HG04115.hp2
 intron_variant MODIFIER c.16803+422G>A
c.16803+422G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39428709
chr1:39428822 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.16804-420C>T
c.16804-420C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39428822
chr1:39428825 C
C
 T
T
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.16804-417C>T
c.16804-417C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39428825
chr1:39429126 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.16804-116G>A
c.16804-116G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39429126
chr1:39429139 T
T
 C
C
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.16804-103T>C
c.16804-103T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39429139
chr1:39429167 A
A
 G
G
 204 a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0053
others(201): Show 
a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
 204 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(201): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.16804-75A>G
c.16804-75A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 63/100 chr1 39429167
chr1:39429569 A
A
 C
C
 1 a0001c0001t0001g0104
a0001c0001t0001g0104
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.16888+243A>C
c.16888+243A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 64/100 chr1 39429569
chr1:39429609 G
G
 A
A
 85 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(82): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 85 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(82): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.16889-218G>A
c.16889-218G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 64/100 chr1 39429609
chr1:39429695 A
A
 G
G
 1 a0006c0005t0001g0237
a0006c0005t0001g0237
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.16889-132A>G
c.16889-132A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 64/100 chr1 39429695
chr1:39429717 A
A
 C
C
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.16889-110A>C
c.16889-110A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 64/100 chr1 39429717
chr1:39429788 G
G
 A
A
 151 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(148): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 151 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(148): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.16889-39G>A
c.16889-39G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 64/100 chr1 39429788
chr1:39430103 G
G
 A
A
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.17130+35G>A
c.17130+35G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 65/100 chr1 39430103
chr1:39430287 A
A
 G
G
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.17130+219A>G
c.17130+219A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 65/100 chr1 39430287
chr1:39431170 C
C
 A
A
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.17337+262C>A
c.17337+262C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 chr1 39431170
chr1:39431289 G
G
 GAATCAAG
others(6): Show 
GAATCAAGAACTAT
 151 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(148): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 151 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(148): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.17337+384_17337+38
others(17): Show 
c.17337+384_17337+385insCAAGAACTATAAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 INFO_REALIGN_3_PRIME chr1 39431289
chr1:39431585 C
C
 T
T
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.17337+677C>T
c.17337+677C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 chr1 39431585
chr1:39431599 T
T
 C
C
 85 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(82): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 85 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(82): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.17337+691T>C
c.17337+691T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 chr1 39431599
chr1:39431648 T
T
 G
G
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.17337+740T>G
c.17337+740T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 chr1 39431648
chr1:39431801 C
C
 CA
CA
 245 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(242): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 245 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(242): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.17338-733dupA
c.17338-733dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 INFO_REALIGN_3_PRIME chr1 39431801
chr1:39431867 TAGAG
TAGAG
 T
T
 8 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(5): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
 8 HG00639.hp2
HG01884.hp1
HG02647.hp1
others(5): Show 
HG00639.hp2
HG01884.hp1
HG02647.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.17338-665_17338-66
others(8): Show 
c.17338-665_17338-662delAGAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 INFO_REALIGN_3_PRIME chr1 39431867
chr1:39432208 G
G
 C
C
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.17338-327G>C
c.17338-327G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 chr1 39432208
chr1:39432503 ATTTG
ATTTG
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.17338-28_17338-25d
others(6): Show 
c.17338-28_17338-25delGTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 66/100 INFO_REALIGN_3_PRIME chr1 39432503
chr1:39432784 G
G
 A
A
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.17457+130G>A
c.17457+130G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 67/100 chr1 39432784
chr1:39432799 G
G
 A
A
 1 a0001c0001t0001g0031
a0001c0001t0001g0031
 1 NA18986.hp2
NA18986.hp2
 intron_variant MODIFIER c.17457+145G>A
c.17457+145G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 67/100 chr1 39432799
chr1:39432972 A
A
 G
G
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.17458-76A>G
c.17458-76A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 67/100 chr1 39432972
chr1:39433644 G
G
 A
A
 16 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(13): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
 16 HG01109.hp2
HG01884.hp2
HG02965.hp1
others(13): Show 
HG01109.hp2
HG01884.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.17565+489G>A
c.17565+489G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 68/100 chr1 39433644
chr1:39433652 T
T
 C
C
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.17565+497T>C
c.17565+497T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 68/100 chr1 39433652
chr1:39433878 G
G
 A
A
 1 a0005c0008t0001g0207
a0005c0008t0001g0207
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.17566-536G>A
c.17566-536G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 68/100 chr1 39433878
chr1:39434386 C
C
 CT
CT
 37 a0001c0001t0001g0030
a0001c0001t0001g0080
a0002c0004t0001g0193
others(34): Show 
a0001c0001t0001g0030
a0001c0001t0001g0080
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0149
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0010g0225
a0014c0021t0001g0226
a0014c0021t0001g0227
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
 37 HG00639.hp2
HG00642.hp1
HG00735.hp1
others(34): Show 
HG00639.hp2
HG00642.hp1
HG00735.hp1
HG01243.hp1
HG01884.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03927.hp1
HG06807.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.17566-11dupT
c.17566-11dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 68/100 INFO_REALIGN_3_PRIME chr1 39434386
chr1:39434386 C
C
 CTT
CTT
 6 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(3): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0009c0014t0009g0192
a0009c0047t0001g0189
 6 HG01069.hp2
HG02486.hp1
HG02886.hp2
others(3): Show 
HG01069.hp2
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03579.hp1
NA20129.hp1
 intron_variant MODIFIER c.17566-12_17566-11d
others(4): Show 
c.17566-12_17566-11dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 68/100 INFO_REALIGN_3_PRIME chr1 39434386
chr1:39434386 CT
CT
 C
C
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.17566-11delT
c.17566-11delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 68/100 INFO_REALIGN_3_PRIME chr1 39434386
chr1:39435189 T
T
 C
C
 1 a0002c0015t0002g0175
a0002c0015t0002g0175
 1 HG02132.hp2
HG02132.hp2
 intron_variant MODIFIER c.17785-369T>C
c.17785-369T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 69/100 chr1 39435189
chr1:39435283 A
A
 G
G
 2 a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0033
a0001c0001t0002g0034
 2 HG00597.hp2
NA18953.hp1
HG00597.hp2
NA18953.hp1
 intron_variant MODIFIER c.17785-275A>G
c.17785-275A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 69/100 chr1 39435283
chr1:39435347 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.17785-211G>A
c.17785-211G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 69/100 chr1 39435347
chr1:39436140 T
T
 C
C
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.17988+379T>C
c.17988+379T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39436140
chr1:39436231 A
A
 C
C
 2 a0016c0026t0001g0173
a0016c0026t0001g0174
a0016c0026t0001g0173
a0016c0026t0001g0174
 2 HG02040.hp2
NA18966.hp1
HG02040.hp2
NA18966.hp1
 intron_variant MODIFIER c.17988+470A>C
c.17988+470A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39436231
chr1:39436318 A
A
 G
G
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.17988+557A>G
c.17988+557A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39436318
chr1:39436575 C
C
 T
T
 5 a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
others(2): Show 
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0018c0027t0001g0157
a0018c0027t0001g0158
 5 NA18954.hp2
NA18973.hp2
NA18980.hp2
others(2): Show 
NA18954.hp2
NA18973.hp2
NA18980.hp2
NA19000.hp2
NA19085.hp2
 intron_variant MODIFIER c.17988+814C>T
c.17988+814C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39436575
chr1:39436578 T
T
 C
C
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.17988+817T>C
c.17988+817T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39436578
chr1:39436598 G
G
 C
C
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.17988+837G>C
c.17988+837G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39436598
chr1:39436695 T
T
 A
A
 19 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(16): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0033c0053t0001g0200
a0042c0052t0001g0201
 19 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(16): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.17988+934T>A
c.17988+934T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39436695
chr1:39437068 C
C
 G
G
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.17989-709C>G
c.17989-709C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437068
chr1:39437257 T
T
 TC
TC
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.17989-520_17989-51
others(5): Show 
c.17989-520_17989-519insC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437257
chr1:39437288 A
A
 T
T
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.17989-489A>T
c.17989-489A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437288
chr1:39437399 C
C
 G
G
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.17989-378C>G
c.17989-378C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437399
chr1:39437432 T
T
 C
C
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.17989-345T>C
c.17989-345T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437432
chr1:39437434 C
C
 T
T
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.17989-343C>T
c.17989-343C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437434
chr1:39437457 T
T
 C
C
 139 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(136): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 139 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(136): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.17989-320T>C
c.17989-320T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437457
chr1:39437472 G
G
 A
A
 1 a0006c0005t0001g0240
a0006c0005t0001g0240
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.17989-305G>A
c.17989-305G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437472
chr1:39437513 T
T
 C
C
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.17989-264T>C
c.17989-264T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 70/100 chr1 39437513
chr1:39438451 A
A
 G
G
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.18220+443A>G
c.18220+443A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438451
chr1:39438478 C
C
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.18220+470C>T
c.18220+470C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438478
chr1:39438693 G
G
 A
A
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.18221-581G>A
c.18221-581G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438693
chr1:39438806 G
G
 A
A
 6 a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
others(3): Show 
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0033c0053t0001g0200
a0042c0052t0001g0201
 6 HG02257.hp1
HG02717.hp1
HG02818.hp1
others(3): Show 
HG02257.hp1
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG03540.hp1
 intron_variant MODIFIER c.18221-468G>A
c.18221-468G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438806
chr1:39438848 C
C
 T
T
 2 a0006c0005t0001g0236
a0006c0005t0001g0244
a0006c0005t0001g0236
a0006c0005t0001g0244
 2 HG04115.hp1
HG04204.hp1
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.18221-426C>T
c.18221-426C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438848
chr1:39438854 G
G
 A
A
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.18221-420G>A
c.18221-420G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438854
chr1:39438940 A
A
 G
G
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.18221-334A>G
c.18221-334A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438940
chr1:39438941 G
G
 A
A
 5 a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0002g0054
others(2): Show 
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0002g0054
a0007c0007t0002g0057
a0046c0044t0001g0100
 5 HG02132.hp1
HG02155.hp1
NA18960.hp1
others(2): Show 
HG02132.hp1
HG02155.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.18221-333G>A
c.18221-333G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39438941
chr1:39439084 C
C
 CA
CA
 9 a0003c0002t0001g0148
a0006c0005t0001g0244
a0013c0023t0001g0003
others(6): Show 
a0003c0002t0001g0148
a0006c0005t0001g0244
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 9 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(6): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG04115.hp1
NA18522.hp2
NA18975.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.18221-176dupA
c.18221-176dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 INFO_REALIGN_3_PRIME chr1 39439084
chr1:39439175 G
G
 A
A
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.18221-99G>A
c.18221-99G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 71/100 chr1 39439175
chr1:39439543 T
T
 C
C
 2 a0002c0004t0001g0199
a0033c0053t0001g0200
a0002c0004t0001g0199
a0033c0053t0001g0200
 2 HG02818.hp1
HG03540.hp1
HG02818.hp1
HG03540.hp1
 intron_variant MODIFIER c.18447+43T>C
c.18447+43T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39439543
chr1:39439916 T
T
 C
C
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.18447+416T>C
c.18447+416T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39439916
chr1:39439983 AATAGATG
others(9): Show 
AATAGATGGTAGAAAAT
 A
A
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.18447+485_18447+50
others(20): Show 
c.18447+485_18447+500delTAGATGGTAGAAAATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39439983
chr1:39439984 ATAGATGG
others(8): Show 
ATAGATGGTAGAAAAT
 A
A
 26 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(23): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 26 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(23): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.18447+485_18447+49
others(19): Show 
c.18447+485_18447+499delTAGATGGTAGAAAAT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39439984
chr1:39439986 A
A
 T
T
 16 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(13): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
 16 HG01109.hp2
HG01884.hp2
HG02965.hp1
others(13): Show 
HG01109.hp2
HG01884.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.18447+486A>T
c.18447+486A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39439986
chr1:39440076 T
T
 TTTTTCTT
others(3): Show 
TTTTTCTTTTC
 2 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0001g0190
a0009c0014t0009g0192
 2 HG03130.hp2
HG03579.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.18447+606_18447+61
others(14): Show 
c.18447+606_18447+615dupCTTTTCTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440076
chr1:39440076 TTTTTCTT
others(3): Show 
TTTTTCTTTTC
 T
T
 8 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
others(5): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0037t0001g0095
a0001c0041t0001g0072
a0004c0035t0001g0063
a0007c0007t0001g0056
 8 HG00140.hp2
HG00741.hp2
HG01167.hp1
others(5): Show 
HG00140.hp2
HG00741.hp2
HG01167.hp1
HG01261.hp2
HG02615.hp2
HG02723.hp2
HG02886.hp1
HG03239.hp1
 intron_variant MODIFIER c.18447+606_18447+61
others(14): Show 
c.18447+606_18447+615delCTTTTCTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440076
chr1:39440097 TTTTCTTT
others(2): Show 
TTTTCTTTTC
 T
T
 5 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(2): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 5 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(2): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
NA20805.hp1
 intron_variant MODIFIER c.18447+601_18447+60
others(13): Show 
c.18447+601_18447+609delCTTTTCTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440097
chr1:39440098 TTTCTTTT
others(1): Show 
TTTCTTTTC
 T
T
 30 a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
others(27): Show 
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0132
a0048c0065t0001g0141
a0050c0069t0001g0123
 30 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(27): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG01099.hp2
HG01261.hp1
HG01981.hp2
HG02004.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18954.hp2
NA18960.hp2
NA18973.hp2
NA18980.hp2
NA18990.hp2
NA18999.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.18447+601_18447+60
others(12): Show 
c.18447+601_18447+608delCTTTTCTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440098
chr1:39440099 TTCTTTTC
TTCTTTTC
 T
T
 14 a0003c0002t0001g0114
a0003c0002t0001g0121
a0003c0002t0001g0122
others(11): Show 
a0003c0002t0001g0114
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0128
a0003c0002t0001g0134
a0003c0002t0001g0142
a0003c0002t0001g0150
a0003c0002t0001g0160
a0010c0016t0004g0145
a0010c0064t0004g0133
a0019c0028t0001g0130
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
 14 HG00609.hp1
HG00639.hp1
HG00733.hp2
others(11): Show 
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG02015.hp1
HG02523.hp2
NA18942.hp1
NA18943.hp2
NA18971.hp2
NA18995.hp2
NA19000.hp2
 intron_variant MODIFIER c.18447+601_18447+60
others(11): Show 
c.18447+601_18447+607delCTTTTCT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440099
chr1:39440100 TCTTTTC
TCTTTTC
 T
T
 3 a0003c0002t0001g0138
a0003c0002t0001g0148
a0003c0002t0001g0152
a0003c0002t0001g0138
a0003c0002t0001g0148
a0003c0002t0001g0152
 3 NA18966.hp2
NA18974.hp1
NA18975.hp2
NA18966.hp2
NA18974.hp1
NA18975.hp2
 intron_variant MODIFIER c.18447+601_18447+60
others(10): Show 
c.18447+601_18447+606delCTTTTC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440100
chr1:39440102 TTTTC
TTTTC
 T
T
 4 a0013c0023t0001g0003
a0026c0049t0001g0002
a0036c0048t0001g0008
others(1): Show 
a0013c0023t0001g0003
a0026c0049t0001g0002
a0036c0048t0001g0008
a0040c0051t0001g0205
 4 HG02109.hp1
NA19010.hp1
NA19030.hp1
others(1): Show 
HG02109.hp1
NA19010.hp1
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.18447+606_18447+60
others(8): Show 
c.18447+606_18447+609delCTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440102
chr1:39440106 C
C
 CT
CT
 4 a0002c0025t0001g0191
a0006c0005t0001g0242
a0014c0021t0001g0226
others(1): Show 
a0002c0025t0001g0191
a0006c0005t0001g0242
a0014c0021t0001g0226
a0014c0021t0001g0227
 4 HG02145.hp2
HG02896.hp1
HG02897.hp1
others(1): Show 
HG02145.hp2
HG02896.hp1
HG02897.hp1
HG03239.hp2
 intron_variant MODIFIER c.18447+610dupT
c.18447+610dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440106
chr1:39440106 C
C
 CTT
CTT
 4 a0015c0022t0001g0005
a0015c0022t0001g0007
a0030c0060t0001g0241
others(1): Show 
a0015c0022t0001g0005
a0015c0022t0001g0007
a0030c0060t0001g0241
a0043c0057t0001g0168
 4 HG01243.hp1
HG02572.hp2
HG02922.hp1
others(1): Show 
HG01243.hp1
HG02572.hp2
HG02922.hp1
NA18522.hp2
 intron_variant MODIFIER c.18447+609_18447+61
others(6): Show 
c.18447+609_18447+610dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440106
chr1:39440106 C
C
 CTTT
CTTT
 3 a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 3 HG02109.hp2
HG02280.hp1
HG06807.hp1
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.18447+608_18447+61
others(7): Show 
c.18447+608_18447+610dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440106
chr1:39440111 C
C
 CT
CT
 10 a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0104
others(7): Show 
a0001c0001t0001g0024
a0001c0001t0001g0027
a0001c0001t0001g0104
a0001c0036t0002g0035
a0004c0006t0001g0062
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
 10 HG00140.hp1
HG00280.hp2
HG01099.hp1
others(7): Show 
HG00140.hp1
HG00280.hp2
HG01099.hp1
HG01109.hp1
HG02683.hp2
NA18943.hp1
NA18981.hp2
NA18995.hp1
NA19085.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.18447+629dupT
c.18447+629dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTT
CTTTT
 22 a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
others(19): Show 
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
 22 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(19): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18983.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.18447+626_18447+62
others(8): Show 
c.18447+626_18447+629dupTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(4): Show 
CTTTTCTTTTCT
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.18447+615_18447+61
others(15): Show 
c.18447+615_18447+616insCTTTTCTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(9): Show 
CTTTTCTTTTCTTTTCT
 1 a0009c0047t0001g0189
a0009c0047t0001g0189
 1 HG01069.hp2
HG01069.hp2
 intron_variant MODIFIER c.18447+615_18447+61
others(20): Show 
c.18447+615_18447+616insCTTTTCTTTTCTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(8): Show 
CTTTTCTTTTCTTTTT
 3 a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
 3 HG02886.hp2
HG02922.hp2
NA20129.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.18447+615_18447+61
others(19): Show 
c.18447+615_18447+616insCTTTTCTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(9): Show 
CTTTTCTTTTCTTTTTT
 1 a0002c0004t0001g0010
a0002c0004t0001g0010
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.18447+615_18447+61
others(20): Show 
c.18447+615_18447+616insCTTTTCTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(3): Show 
CTTTTCTTTTT
 1 a0002c0004t0001g0197
a0002c0004t0001g0197
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.18447+615_18447+61
others(14): Show 
c.18447+615_18447+616insCTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(4): Show 
CTTTTCTTTTTT
 3 a0006c0005t0001g0234
a0006c0005t0001g0237
a0006c0005t0001g0243
a0006c0005t0001g0234
a0006c0005t0001g0237
a0006c0005t0001g0243
 3 HG01106.hp1
HG02602.hp2
HG02647.hp2
HG01106.hp1
HG02602.hp2
HG02647.hp2
 intron_variant MODIFIER c.18447+615_18447+61
others(15): Show 
c.18447+615_18447+616insCTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(5): Show 
CTTTTCTTTTTTT
 2 a0006c0005t0001g0238
a0006c0005t0001g0240
a0006c0005t0001g0238
a0006c0005t0001g0240
 2 HG03516.hp2
NA20300.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.18447+615_18447+61
others(16): Show 
c.18447+615_18447+616insCTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(6): Show 
CTTTTCTTTTTTTT
 1 a0006c0005t0001g0236
a0006c0005t0001g0236
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.18447+615_18447+61
others(17): Show 
c.18447+615_18447+616insCTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(11): Show 
CTTTTCTTTTTTTTTTTTT
 1 a0006c0005t0001g0235
a0006c0005t0001g0235
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.18447+615_18447+61
others(22): Show 
c.18447+615_18447+616insCTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTCTT
others(15): Show 
CTTTTCTTTTTTTTTTTTTTTTT
 1 a0006c0005t0001g0239
a0006c0005t0001g0239
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.18447+615_18447+61
others(26): Show 
c.18447+615_18447+616insCTTTTTTTTTTTTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTT
CTTTTT
 20 a0002c0003t0001g0186
a0002c0003t0002g0127
a0002c0004t0001g0193
others(17): Show 
a0002c0003t0001g0186
a0002c0003t0002g0127
a0002c0004t0001g0193
a0002c0004t0001g0196
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0007g0166
a0022c0072t0001g0209
a0033c0053t0001g0200
a0038c0054t0002g0178
a0042c0052t0001g0201
 20 HG00639.hp2
HG01884.hp1
HG02257.hp1
others(17): Show 
HG00639.hp2
HG01884.hp1
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03486.hp2
HG03540.hp1
NA18953.hp2
NA18981.hp1
NA19043.hp1
NA19086.hp1
 intron_variant MODIFIER c.18447+625_18447+62
others(9): Show 
c.18447+625_18447+629dupTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 7 a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
others(4): Show 
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0008c0010t0003g0219
a0008c0010t0003g0220
a0012c0029t0001g0165
a0012c0029t0001g0212
 7 HG02976.hp1
HG03453.hp1
HG03471.hp1
others(4): Show 
HG02976.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.18447+621_18447+62
others(13): Show 
c.18447+621_18447+629dupTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 7 a0005c0009t0003g0214
a0005c0009t0003g0218
a0008c0010t0001g0208
others(4): Show 
a0005c0009t0003g0214
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0221
a0023c0074t0001g0206
a0024c0076t0003g0222
 7 HG01109.hp2
HG01884.hp2
HG03098.hp2
others(4): Show 
HG01109.hp2
HG01884.hp2
HG03098.hp2
HG03209.hp2
NA18906.hp1
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.18447+620_18447+62
others(14): Show 
c.18447+620_18447+629dupTTTTTTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440111
chr1:39440111 C
C
 T
T
 73 a0002c0003t0002g0185
a0002c0025t0001g0001
a0002c0025t0001g0191
others(70): Show 
a0002c0003t0002g0185
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0006c0005t0001g0242
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0028c0050t0008g0233
a0030c0060t0001g0241
a0036c0048t0001g0008
a0037c0058t0001g0245
a0040c0051t0001g0205
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 73 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(70): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03540.hp2
HG03927.hp2
HG06807.hp1
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18986.hp1
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.18447+611C>T
c.18447+611C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440111
chr1:39440119 T
T
 C
C
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.18447+619T>C
c.18447+619T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440119
chr1:39440201 C
C
 T
T
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.18447+701C>T
c.18447+701C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440201
chr1:39440206 G
G
 A
A
 8 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(5): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
a0043c0057t0001g0168
 8 HG01243.hp1
HG01243.hp2
HG02109.hp1
others(5): Show 
HG01243.hp1
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.18447+706G>A
c.18447+706G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440206
chr1:39440258 A
A
 G
G
 1 a0046c0044t0001g0100
a0046c0044t0001g0100
 1 NA18975.hp1
NA18975.hp1
 intron_variant MODIFIER c.18448-745A>G
c.18448-745A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440258
chr1:39440309 T
T
 C
C
 6 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(3): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
 6 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(3): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.18448-694T>C
c.18448-694T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440309
chr1:39440439 C
C
 G
G
 4 a0002c0004t0001g0193
a0002c0004t0001g0197
a0002c0004t0001g0223
others(1): Show 
a0002c0004t0001g0193
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
 4 HG01884.hp1
HG02723.hp1
HG02896.hp2
others(1): Show 
HG01884.hp1
HG02723.hp1
HG02896.hp2
HG03486.hp2
 intron_variant MODIFIER c.18448-564C>G
c.18448-564C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440439
chr1:39440467 A
A
 C
C
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.18448-536A>C
c.18448-536A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440467
chr1:39440508 T
T
 G
G
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.18448-495T>G
c.18448-495T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440508
chr1:39440595 GT
GT
 G
G
 139 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(136): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 139 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(136): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.18448-401delT
c.18448-401delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 INFO_REALIGN_3_PRIME chr1 39440595
chr1:39440640 T
T
 A
A
 1 a0001c0018t0002g0047
a0001c0018t0002g0047
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.18448-363T>A
c.18448-363T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440640
chr1:39440971 T
T
 A
A
 2 a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0016t0004g0136
a0010c0016t0004g0145
 2 HG02165.hp1
HG02523.hp2
HG02165.hp1
HG02523.hp2
 intron_variant MODIFIER c.18448-32T>A
c.18448-32T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440971
chr1:39440987 A
A
 G
G
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.18448-16A>G
c.18448-16A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 72/100 chr1 39440987
chr1:39441437 A
A
 G
G
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.18672+112A>G
c.18672+112A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 74/100 chr1 39441437
chr1:39441481 T
T
 C
C
 1 a0004c0035t0001g0063
a0004c0035t0001g0063
 1 HG01167.hp1
HG01167.hp1
 intron_variant MODIFIER c.18672+156T>C
c.18672+156T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 74/100 chr1 39441481
chr1:39441488 A
A
 C
C
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.18672+163A>C
c.18672+163A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 74/100 chr1 39441488
chr1:39441506 C
C
 T
T
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.18672+181C>T
c.18672+181C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 74/100 chr1 39441506
chr1:39441507 T
T
 G
G
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.18672+182T>G
c.18672+182T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 74/100 chr1 39441507
chr1:39441773 T
T
 G
G
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.18673-179T>G
c.18673-179T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 74/100 chr1 39441773
chr1:39442060 A
A
 G
G
 1 a0034c0056t0001g0176
a0034c0056t0001g0176
 1 NA18983.hp1
NA18983.hp1
 splice_region_variant&intron_variant LOW c.18774+7A>G
c.18774+7A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 75/100 chr1 39442060
chr1:39442363 C
C
 G
G
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.18948+43C>G
c.18948+43C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 76/100 chr1 39442363
chr1:39442677 T
T
 G
G
 2 a0014c0021t0001g0226
a0014c0021t0001g0227
a0014c0021t0001g0226
a0014c0021t0001g0227
 2 HG02896.hp1
HG02897.hp1
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.19105-37T>G
c.19105-37T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 77/100 chr1 39442677
chr1:39443029 G
G
 A
A
 13 a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
others(10): Show 
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 13 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(10): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.19302+118G>A
c.19302+118G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 78/100 chr1 39443029
chr1:39443054 A
A
 G
G
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.19302+143A>G
c.19302+143A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 78/100 chr1 39443054
chr1:39443317 C
C
 T
T
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.19303-129C>T
c.19303-129C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 78/100 chr1 39443317
chr1:39443374 A
A
 G
G
 1 a0001c0001t0001g0015
a0001c0001t0001g0015
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.19303-72A>G
c.19303-72A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 78/100 chr1 39443374
chr1:39443697 T
T
 C
C
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.19431+123T>C
c.19431+123T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 79/100 chr1 39443697
chr1:39443883 G
G
 A
A
 3 a0003c0002t0001g0115
a0003c0002t0001g0147
a0003c0002t0001g0155
a0003c0002t0001g0115
a0003c0002t0001g0147
a0003c0002t0001g0155
 3 HG00280.hp1
HG02738.hp1
HG03540.hp2
HG00280.hp1
HG02738.hp1
HG03540.hp2
 intron_variant MODIFIER c.19431+309G>A
c.19431+309G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 79/100 chr1 39443883
chr1:39444265 G
G
 A
A
 1 a0016c0026t0001g0173
a0016c0026t0001g0173
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.19432-397G>A
c.19432-397G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 79/100 chr1 39444265
chr1:39444441 T
T
 C
C
 3 a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
 3 HG00642.hp2
HG00735.hp2
NA20805.hp1
HG00642.hp2
HG00735.hp2
NA20805.hp1
 intron_variant MODIFIER c.19432-221T>C
c.19432-221T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 79/100 chr1 39444441
chr1:39444585 A
A
 T
T
 13 a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
others(10): Show 
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 13 HG01106.hp2
HG01433.hp1
HG02129.hp2
others(10): Show 
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02523.hp1
HG02738.hp2
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.19432-77A>T
c.19432-77A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 79/100 chr1 39444585
chr1:39444602 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.19432-60A>G
c.19432-60A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 79/100 chr1 39444602
chr1:39445012 T
T
 C
C
 90 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(87): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0016c0026t0001g0173
a0016c0026t0001g0174
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 90 HG00438.hp2
HG00597.hp1
HG00639.hp1
others(87): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.19605+177T>C
c.19605+177T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39445012
chr1:39445021 T
T
 C
C
 1 a0003c0002t0001g0111
a0003c0002t0001g0111
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.19605+186T>C
c.19605+186T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39445021
chr1:39445329 C
C
 T
T
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.19605+494C>T
c.19605+494C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39445329
chr1:39445404 A
A
 G
G
 1 a0016c0026t0001g0173
a0016c0026t0001g0173
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.19605+569A>G
c.19605+569A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39445404
chr1:39445548 G
G
 A
A
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 6 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(3): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.19605+713G>A
c.19605+713G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39445548
chr1:39445697 C
C
 T
T
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.19605+862C>T
c.19605+862C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39445697
chr1:39445916 T
T
 TG
TG
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.19605+1082dupG
c.19605+1082dupG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 INFO_REALIGN_3_PRIME chr1 39445916
chr1:39446065 A
A
 G
G
 1 a0003c0002t0001g0109
a0003c0002t0001g0109
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.19605+1230A>G
c.19605+1230A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446065
chr1:39446242 T
T
 C
C
 1 a0027c0063t0002g0229
a0027c0063t0002g0229
 1 NA19002.hp2
NA19002.hp2
 intron_variant MODIFIER c.19606-1190T>C
c.19606-1190T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446242
chr1:39446326 AAT
AAT
 A
A
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 153 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(150): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02486.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.19606-1100_19606-1
others(8): Show 
c.19606-1100_19606-1099delTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 INFO_REALIGN_3_PRIME chr1 39446326
chr1:39446383 C
C
 G
G
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.19606-1049C>G
c.19606-1049C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446383
chr1:39446399 T
T
 G
G
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.19606-1033T>G
c.19606-1033T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446399
chr1:39446492 A
A
 AT
AT
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.19606-927dupT
c.19606-927dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 INFO_REALIGN_3_PRIME chr1 39446492
chr1:39446656 C
C
 T
T
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.19606-776C>T
c.19606-776C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446656
chr1:39446686 G
G
 C
C
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.19606-746G>C
c.19606-746G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446686
chr1:39446699 A
A
 T
T
 1 a0025c0030t0001g0067
a0025c0030t0001g0067
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.19606-733A>T
c.19606-733A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446699
chr1:39446740 G
G
 A
A
 1 a0041c0033t0001g0055
a0041c0033t0001g0055
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.19606-692G>A
c.19606-692G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39446740
chr1:39447179 A
A
 G
G
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.19606-253A>G
c.19606-253A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 80/100 chr1 39447179
chr1:39447679 A
A
 G
G
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.19762-13A>G
c.19762-13A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 81/100 chr1 39447679
chr1:39447971 C
C
 G
G
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.19969-62C>G
c.19969-62C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 82/100 chr1 39447971
chr1:39448323 T
T
 C
C
 3 a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
a0001c0017t0001g0028
a0001c0017t0001g0029
a0053c0077t0001g0020
 3 HG02071.hp2
NA18971.hp1
NA18987.hp2
HG02071.hp2
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.20088+171T>C
c.20088+171T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 83/100 chr1 39448323
chr1:39448418 G
G
 A
A
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.20089-176G>A
c.20089-176G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 83/100 chr1 39448418
chr1:39448469 G
G
 T
T
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.20089-125G>T
c.20089-125G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 83/100 chr1 39448469
chr1:39448480 G
G
 A
A
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0042c0052t0001g0201
 24 HG00639.hp2
HG00642.hp1
HG01884.hp1
others(21): Show 
HG00639.hp2
HG00642.hp1
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.20089-114G>A
c.20089-114G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 83/100 chr1 39448480
chr1:39449066 C
C
 T
T
 1 a0025c0030t0001g0067
a0025c0030t0001g0067
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.20258+303C>T
c.20258+303C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39449066
chr1:39449079 C
C
 T
T
 1 a0002c0003t0002g0188
a0002c0003t0002g0188
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.20258+316C>T
c.20258+316C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39449079
chr1:39449363 G
G
 A
A
 98 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(95): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0052c0046t0001g0068
 98 HG00140.hp1
HG00280.hp2
HG00438.hp2
others(95): Show 
HG00140.hp1
HG00280.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.20258+600G>A
c.20258+600G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39449363
chr1:39449484 C
C
 T
T
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 6 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(3): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.20258+721C>T
c.20258+721C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39449484
chr1:39449537 T
T
 C
C
 52 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(49): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 52 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(49): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.20258+774T>C
c.20258+774T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39449537
chr1:39449697 A
A
 AT
AT
 6 a0001c0001t0002g0016
a0013c0023t0001g0003
a0013c0023t0001g0004
others(3): Show 
a0001c0001t0002g0016
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0026c0049t0001g0002
 6 HG02109.hp1
HG02896.hp1
HG02897.hp1
others(3): Show 
HG02109.hp1
HG02896.hp1
HG02897.hp1
HG03453.hp2
NA19083.hp1
NA20129.hp2
 intron_variant MODIFIER c.20258+949dupT
c.20258+949dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39449697
chr1:39449697 A
A
 ATT
ATT
 48 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(45): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0033c0053t0001g0200
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
 48 HG00438.hp2
HG00597.hp1
HG00639.hp2
others(45): Show 
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG02040.hp2
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03491.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.20258+948_20258+94
others(6): Show 
c.20258+948_20258+949dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39449697
chr1:39449697 A
A
 ATTT
ATTT
 19 a0002c0003t0002g0228
a0002c0004t0001g0009
a0002c0004t0001g0010
others(16): Show 
a0002c0003t0002g0228
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0009c0047t0001g0189
a0020c0075t0001g0211
a0030c0060t0001g0241
a0034c0056t0001g0176
 19 HG00642.hp1
HG01069.hp2
HG01106.hp1
others(16): Show 
HG00642.hp1
HG01069.hp2
HG01106.hp1
HG02071.hp1
HG02486.hp1
HG02602.hp2
HG02717.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04204.hp1
NA18983.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.20258+947_20258+94
others(7): Show 
c.20258+947_20258+949dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39449697
chr1:39449697 A
A
 ATTTTT
ATTTTT
 27 a0004c0006t0001g0049
a0004c0006t0001g0069
a0004c0006t0001g0074
others(24): Show 
a0004c0006t0001g0049
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0038t0001g0084
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0028c0050t0008g0233
a0052c0046t0001g0068
 27 HG00140.hp1
HG00280.hp2
HG01069.hp1
others(24): Show 
HG00140.hp1
HG00280.hp2
HG01069.hp1
HG01099.hp1
HG01109.hp2
HG01884.hp2
HG02280.hp2
HG02486.hp2
HG02683.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp2
HG03516.hp1
HG03579.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.20258+945_20258+94
others(9): Show 
c.20258+945_20258+949dupTTTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39449697
chr1:39449697 AT
AT
 A
A
 49 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
others(46): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0037c0058t0001g0245
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 49 HG00280.hp1
HG00544.hp1
HG00558.hp2
others(46): Show 
HG00280.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG01099.hp2
HG01243.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02165.hp1
HG02273.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.20258+949delT
c.20258+949delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39449697
chr1:39450061 A
A
 T
T
 1 a0001c0012t0001g0060
a0001c0012t0001g0060
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.20259-991A>T
c.20259-991A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450061
chr1:39450166 T
T
 C
C
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.20259-886T>C
c.20259-886T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450166
chr1:39450171 T
T
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.20259-881T>A
c.20259-881T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450171
chr1:39450304 A
A
 AT
AT
 133 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(130): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
 133 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(130): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02738.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.20259-736dupT
c.20259-736dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39450304
chr1:39450304 A
A
 ATT
ATT
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.20259-737_20259-73
others(6): Show 
c.20259-737_20259-736dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39450304
chr1:39450386 T
T
 C
C
 1 a0001c0012t0001g0059
a0001c0012t0001g0059
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.20259-666T>C
c.20259-666T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450386
chr1:39450429 T
T
 TA
TA
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.20259-622dupA
c.20259-622dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39450429
chr1:39450521 A
A
 G
G
 3 a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
 3 HG01884.hp2
HG06807.hp2
NA19240.hp1
HG01884.hp2
HG06807.hp2
NA19240.hp1
 intron_variant MODIFIER c.20259-531A>G
c.20259-531A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450521
chr1:39450587 C
C
 G
G
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.20259-465C>G
c.20259-465C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450587
chr1:39450610 C
C
 CT
CT
 106 a0001c0001t0002g0016
a0001c0001t0006g0066
a0002c0003t0001g0186
others(103): Show 
a0001c0001t0002g0016
a0001c0001t0006g0066
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
 106 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(103): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02273.hp2
HG02280.hp2
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02738.hp1
HG02809.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03927.hp2
HG04115.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.20259-423dupT
c.20259-423dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39450610
chr1:39450610 CT
CT
 C
C
 6 a0001c0001t0002g0033
a0001c0017t0001g0028
a0001c0017t0001g0029
others(3): Show 
a0001c0001t0002g0033
a0001c0017t0001g0028
a0001c0017t0001g0029
a0002c0004t0011g0194
a0044c0032t0001g0102
a0053c0077t0001g0020
 6 HG02015.hp2
HG02071.hp2
HG02897.hp2
others(3): Show 
HG02015.hp2
HG02071.hp2
HG02897.hp2
NA18953.hp1
NA18971.hp1
NA18987.hp2
 intron_variant MODIFIER c.20259-423delT
c.20259-423delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 INFO_REALIGN_3_PRIME chr1 39450610
chr1:39450638 A
A
 G
G
 166 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(163): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0043c0057t0001g0168
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
 166 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(163): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.20259-414A>G
c.20259-414A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450638
chr1:39450760 C
C
 T
T
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 6 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(3): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.20259-292C>T
c.20259-292C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450760
chr1:39450763 C
C
 G
G
 101 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(98): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0016c0026t0001g0173
a0016c0026t0001g0174
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0052c0046t0001g0068
 101 HG00140.hp1
HG00280.hp2
HG00438.hp2
others(98): Show 
HG00140.hp1
HG00280.hp2
HG00438.hp2
HG00597.hp1
HG00639.hp2
HG00642.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01346.hp2
HG01884.hp1
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.20259-289C>G
c.20259-289C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450763
chr1:39450885 A
A
 G
G
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.20259-167A>G
c.20259-167A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450885
chr1:39450900 C
C
 T
T
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 6 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(3): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.20259-152C>T
c.20259-152C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 84/100 chr1 39450900
chr1:39451444 G
G
 T
T
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.20418+233G>T
c.20418+233G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 85/100 chr1 39451444
chr1:39451598 C
C
 T
T
 2 a0006c0005t0001g0238
a0006c0005t0001g0240
a0006c0005t0001g0238
a0006c0005t0001g0240
 2 HG03516.hp2
NA20300.hp2
HG03516.hp2
NA20300.hp2
 intron_variant MODIFIER c.20418+387C>T
c.20418+387C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 85/100 chr1 39451598
chr1:39451675 T
T
 C
C
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.20418+464T>C
c.20418+464T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 85/100 chr1 39451675
chr1:39451945 C
C
 T
T
 1 a0012c0029t0001g0165
a0012c0029t0001g0165
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.20419-211C>T
c.20419-211C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 85/100 chr1 39451945
chr1:39452113 A
A
 G
G
 3 a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 3 HG01069.hp2
HG03041.hp1
HG03579.hp1
HG01069.hp2
HG03041.hp1
HG03579.hp1
 intron_variant MODIFIER c.20419-43A>G
c.20419-43A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 85/100 chr1 39452113
chr1:39452864 C
C
 T
T
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.20742+52C>T
c.20742+52C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39452864
chr1:39453064 G
G
 T
T
 3 a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
 3 HG00642.hp2
HG00735.hp2
NA20805.hp1
HG00642.hp2
HG00735.hp2
NA20805.hp1
 intron_variant MODIFIER c.20742+252G>T
c.20742+252G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453064
chr1:39453116 G
G
 C
C
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.20742+304G>C
c.20742+304G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453116
chr1:39453129 T
T
 G
G
 1 a0004c0019t0001g0050
a0004c0019t0001g0050
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.20742+317T>G
c.20742+317T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453129
chr1:39453264 C
C
 T
T
 2 a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0183
a0002c0003t0002g0184
 2 NA19084.hp2
NA19088.hp2
NA19084.hp2
NA19088.hp2
 intron_variant MODIFIER c.20743-443C>T
c.20743-443C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453264
chr1:39453320 A
A
 T
T
 1 a0007c0007t0002g0054
a0007c0007t0002g0054
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.20743-387A>T
c.20743-387A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453320
chr1:39453460 G
G
 A
A
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.20743-247G>A
c.20743-247G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453460
chr1:39453562 A
A
 G
G
 153 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(150): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
 153 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(150): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp2
HG00544.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.20743-145A>G
c.20743-145A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453562
chr1:39453674 T
T
 G
G
 44 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(41): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 44 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(41): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18522.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.20743-33T>G
c.20743-33T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 87/100 chr1 39453674
chr1:39453944 C
C
 T
T
 16 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(13): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0033c0053t0001g0200
a0042c0052t0001g0201
 16 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(13): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.20886+94C>T
c.20886+94C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39453944
chr1:39453960 C
C
 T
T
 2 a0002c0004t0001g0199
a0033c0053t0001g0200
a0002c0004t0001g0199
a0033c0053t0001g0200
 2 HG02818.hp1
HG03540.hp1
HG02818.hp1
HG03540.hp1
 intron_variant MODIFIER c.20886+110C>T
c.20886+110C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39453960
chr1:39454184 A
A
 G
G
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.20886+334A>G
c.20886+334A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39454184
chr1:39454423 G
G
 A
A
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.20887-486G>A
c.20887-486G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39454423
chr1:39454558 T
T
 C
C
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.20887-351T>C
c.20887-351T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39454558
chr1:39454582 A
A
 C
C
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.20887-327A>C
c.20887-327A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39454582
chr1:39454633 C
C
 T
T
 1 a0009c0014t0010g0225
a0009c0014t0010g0225
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.20887-276C>T
c.20887-276C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39454633
chr1:39454706 A
A
 G
G
 40 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(37): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0030c0060t0001g0241
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 40 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(37): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG04115.hp1
HG04204.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.20887-203A>G
c.20887-203A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39454706
chr1:39454887 T
T
 C
C
 1 a0002c0003t0002g0044
a0002c0003t0002g0044
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.20887-22T>C
c.20887-22T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 88/100 chr1 39454887
chr1:39455355 C
C
 T
T
 33 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(30): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 33 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(30): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.21075+258C>T
c.21075+258C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39455355
chr1:39455481 C
C
 G
G
 1 a0015c0022t0001g0007
a0015c0022t0001g0007
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.21075+384C>G
c.21075+384C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39455481
chr1:39455686 A
A
 G
G
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21075+589A>G
c.21075+589A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39455686
chr1:39455763 G
G
 T
T
 2 a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0213
a0008c0010t0003g0219
 2 HG01109.hp2
HG03516.hp1
HG01109.hp2
HG03516.hp1
 intron_variant MODIFIER c.21075+666G>T
c.21075+666G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39455763
chr1:39455885 C
C
 A
A
 1 a0001c0034t0001g0090
a0001c0034t0001g0090
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.21075+788C>A
c.21075+788C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39455885
chr1:39456139 G
G
 C
C
 23 a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
others(20): Show 
a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0134
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0148
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0002g0137
a0003c0066t0001g0117
a0019c0028t0001g0130
a0019c0028t0001g0132
a0047c0068t0001g0129
 23 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(20): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00735.hp2
HG01099.hp2
HG02074.hp2
HG02129.hp1
HG02683.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18971.hp2
NA18974.hp1
NA18975.hp2
NA18990.hp2
NA18995.hp2
NA19083.hp2
NA19088.hp1
NA20805.hp1
 intron_variant MODIFIER c.21075+1042G>C
c.21075+1042G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456139
chr1:39456289 G
G
 A
A
 20 a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
others(17): Show 
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0024c0076t0003g0222
a0033c0053t0001g0200
a0042c0052t0001g0201
 20 HG00639.hp2
HG01884.hp1
HG02145.hp2
others(17): Show 
HG00639.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19030.hp2
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.21075+1192G>A
c.21075+1192G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456289
chr1:39456451 A
A
 G
G
 2 a0019c0028t0001g0130
a0019c0028t0001g0132
a0019c0028t0001g0130
a0019c0028t0001g0132
 2 HG00639.hp1
HG02683.hp1
HG00639.hp1
HG02683.hp1
 intron_variant MODIFIER c.21075+1354A>G
c.21075+1354A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456451
chr1:39456567 C
C
 T
T
 2 a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0076
a0011c0013t0001g0078
 2 HG02257.hp2
HG03098.hp1
HG02257.hp2
HG03098.hp1
 intron_variant MODIFIER c.21075+1470C>T
c.21075+1470C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456567
chr1:39456631 A
A
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.21075+1534A>T
c.21075+1534A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456631
chr1:39456689 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.21075+1592A>G
c.21075+1592A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456689
chr1:39456741 C
C
 T
T
 1 a0001c0037t0001g0095
a0001c0037t0001g0095
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.21076-1629C>T
c.21076-1629C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456741
chr1:39456754 G
G
 A
A
 48 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(45): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21076-1616G>A
c.21076-1616G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456754
chr1:39456833 C
C
 T
T
 2 a0003c0002t0001g0128
a0047c0068t0001g0129
a0003c0002t0001g0128
a0047c0068t0001g0129
 2 NA18942.hp1
NA18971.hp2
NA18942.hp1
NA18971.hp2
 intron_variant MODIFIER c.21076-1537C>T
c.21076-1537C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456833
chr1:39456919 A
A
 G
G
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.21076-1451A>G
c.21076-1451A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39456919
chr1:39457001 G
G
 C
C
 3 a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
 3 HG02257.hp2
HG03098.hp1
HG03486.hp1
HG02257.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.21076-1369G>C
c.21076-1369G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457001
chr1:39457212 C
C
 G
G
 136 a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
others(133): Show 
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0040c0051t0001g0205
a0042c0052t0001g0201
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 136 HG00280.hp1
HG00438.hp2
HG00544.hp1
others(133): Show 
HG00280.hp1
HG00438.hp2
HG00544.hp1
HG00597.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02273.hp2
HG02486.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19010.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.21076-1158C>G
c.21076-1158C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457212
chr1:39457222 C
C
 T
T
 1 a0019c0028t0001g0132
a0019c0028t0001g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.21076-1148C>T
c.21076-1148C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457222
chr1:39457251 C
C
 A
A
 17 a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
others(14): Show 
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 17 HG00558.hp2
HG00609.hp1
HG01106.hp2
others(14): Show 
HG00558.hp2
HG00609.hp1
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02523.hp1
HG02523.hp2
HG02738.hp2
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.21076-1119C>A
c.21076-1119C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457251
chr1:39457318 G
G
 T
T
 11 a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
others(8): Show 
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0030c0060t0001g0241
 11 HG01106.hp1
HG02572.hp1
HG02602.hp2
others(8): Show 
HG01106.hp1
HG02572.hp1
HG02602.hp2
HG02647.hp2
HG02922.hp1
HG02976.hp2
HG03239.hp2
HG03516.hp2
HG04115.hp1
HG04204.hp1
NA20300.hp2
 intron_variant MODIFIER c.21076-1052G>T
c.21076-1052G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457318
chr1:39457598 T
T
 C
C
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21076-772T>C
c.21076-772T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457598
chr1:39457934 T
T
 C
C
 2 a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0025t0001g0001
a0002c0025t0001g0191
 2 HG02145.hp2
HG03471.hp2
HG02145.hp2
HG03471.hp2
 intron_variant MODIFIER c.21076-436T>C
c.21076-436T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457934
chr1:39457975 G
G
 A
A
 1 a0049c0067t0001g0116
a0049c0067t0001g0116
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.21076-395G>A
c.21076-395G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457975
chr1:39457998 A
A
 G
G
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.21076-372A>G
c.21076-372A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39457998
chr1:39458060 T
T
 C
C
 48 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(45): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21076-310T>C
c.21076-310T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39458060
chr1:39458103 C
C
 G
G
 43 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(40): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 43 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(40): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.21076-267C>G
c.21076-267C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39458103
chr1:39458199 A
A
 T
T
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.21076-171A>T
c.21076-171A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39458199
chr1:39458222 T
T
 A
A
 3 a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
 3 HG01106.hp1
HG02602.hp2
HG03239.hp2
HG01106.hp1
HG02602.hp2
HG03239.hp2
 intron_variant MODIFIER c.21076-148T>A
c.21076-148T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 89/100 chr1 39458222
chr1:39458726 G
G
 A
A
 48 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(45): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21196+236G>A
c.21196+236G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 90/100 chr1 39458726
chr1:39458827 G
G
 A
A
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.21197-259G>A
c.21197-259G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 90/100 chr1 39458827
chr1:39458857 G
G
 A
A
 1 a0002c0004t0001g0204
a0002c0004t0001g0204
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.21197-229G>A
c.21197-229G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 90/100 chr1 39458857
chr1:39458963 C
C
 T
T
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.21197-123C>T
c.21197-123C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 90/100 chr1 39458963
chr1:39459028 C
C
 G
G
 1 a0037c0058t0001g0245
a0037c0058t0001g0245
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.21197-58C>G
c.21197-58C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 90/100 chr1 39459028
chr1:39459080 T
T
 C
C
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 splice_region_variant&intron_variant LOW c.21197-6T>C
c.21197-6T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 90/100 chr1 39459080
chr1:39459254 T
T
 C
C
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 splice_region_variant&intron_variant LOW c.21360+5T>C
c.21360+5T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 91/100 chr1 39459254
chr1:39459698 T
T
 C
C
 1 a0011c0013t0001g0078
a0011c0013t0001g0078
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.21360+449T>C
c.21360+449T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 91/100 chr1 39459698
chr1:39460145 A
A
 G
G
 1 a0002c0003t0002g0113
a0002c0003t0002g0113
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.21361-487A>G
c.21361-487A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 91/100 chr1 39460145
chr1:39460216 A
A
 G
G
 7 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(4): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 7 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(4): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
 intron_variant MODIFIER c.21361-416A>G
c.21361-416A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 91/100 chr1 39460216
chr1:39460287 G
G
 A
A
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21361-345G>A
c.21361-345G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 91/100 chr1 39460287
chr1:39460593 A
A
 C
C
 2 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0108
a0003c0002t0001g0109
 2 HG02602.hp1
HG03927.hp2
HG02602.hp1
HG03927.hp2
 intron_variant MODIFIER c.21361-39A>C
c.21361-39A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 91/100 chr1 39460593
chr1:39461083 CA
CA
 C
C
 9 a0001c0001t0001g0094
a0003c0002t0001g0119
a0004c0011t0003g0167
others(6): Show 
a0001c0001t0001g0094
a0003c0002t0001g0119
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 9 HG01243.hp1
HG02055.hp2
HG02109.hp2
others(6): Show 
HG01243.hp1
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02896.hp1
HG02897.hp1
HG06807.hp1
NA19002.hp1
NA19091.hp1
 intron_variant MODIFIER c.21523+307delA
c.21523+307delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 INFO_REALIGN_3_PRIME chr1 39461083
chr1:39461152 G
G
 A
A
 143 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(140): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0053c0077t0001g0020
 143 HG00140.hp2
HG00280.hp1
HG00438.hp1
others(140): Show 
HG00140.hp2
HG00280.hp1
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
 intron_variant MODIFIER c.21523+358G>A
c.21523+358G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 chr1 39461152
chr1:39461207 C
C
 T
T
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.21523+413C>T
c.21523+413C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 chr1 39461207
chr1:39461543 C
C
 T
T
 6 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
others(3): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 6 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(3): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.21524-340C>T
c.21524-340C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 chr1 39461543
chr1:39461648 C
C
 T
T
 6 a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
others(3): Show 
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
 6 HG00140.hp1
HG00280.hp2
HG01099.hp1
others(3): Show 
HG00140.hp1
HG00280.hp2
HG01099.hp1
HG02683.hp2
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21524-235C>T
c.21524-235C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 chr1 39461648
chr1:39461791 C
C
 CA
CA
 32 a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0048
others(29): Show 
a0001c0001t0001g0017
a0001c0001t0001g0025
a0001c0001t0001g0048
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0091
a0001c0001t0001g0103
a0001c0001t0002g0032
a0001c0018t0002g0036
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0228
a0002c0003t0002g0231
a0003c0002t0001g0122
a0003c0002t0001g0138
a0003c0002t0001g0152
a0003c0002t0001g0159
a0004c0011t0003g0167
a0004c0019t0001g0052
a0004c0038t0001g0084
a0006c0005t0001g0234
a0006c0005t0001g0238
a0006c0005t0001g0243
a0007c0007t0001g0082
a0016c0026t0001g0173
a0017c0020t0001g0085
a0019c0028t0001g0132
a0035c0055t0002g0179
a0036c0048t0001g0008
a0048c0065t0001g0141
a0049c0067t0001g0116
 32 HG00140.hp2
HG00438.hp2
HG00544.hp2
others(29): Show 
HG00140.hp2
HG00438.hp2
HG00544.hp2
HG00741.hp1
HG01081.hp1
HG01081.hp2
HG01346.hp2
HG01433.hp2
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02135.hp1
HG02135.hp2
HG02155.hp2
HG02602.hp2
HG02647.hp2
HG02683.hp1
HG02738.hp2
HG03130.hp1
HG03490.hp2
HG03516.hp2
HG04115.hp2
NA18966.hp2
NA18974.hp1
NA18980.hp2
NA19000.hp1
NA19030.hp1
NA19080.hp2
NA19091.hp2
 intron_variant MODIFIER c.21524-65dupA
c.21524-65dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 INFO_REALIGN_3_PRIME chr1 39461791
chr1:39461791 CA
CA
 C
C
 25 a0001c0062t0001g0006
a0002c0003t0002g0246
a0002c0004t0001g0009
others(22): Show 
a0001c0062t0001g0006
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0002t0001g0161
a0004c0035t0001g0063
a0005c0008t0001g0207
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0015c0022t0001g0005
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0040c0051t0001g0205
a0051c0045t0012g0022
 25 HG00642.hp1
HG01167.hp1
HG01884.hp2
others(22): Show 
HG00642.hp1
HG01167.hp1
HG01884.hp2
HG02486.hp1
HG02615.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03579.hp2
HG06807.hp2
NA18522.hp2
NA18954.hp2
NA18974.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.21524-65delA
c.21524-65delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 INFO_REALIGN_3_PRIME chr1 39461791
chr1:39461791 CAA
CAA
 C
C
 24 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(21): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0033c0053t0001g0200
a0042c0052t0001g0201
 24 HG00639.hp2
HG01069.hp2
HG01884.hp1
others(21): Show 
HG00639.hp2
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
NA18906.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21524-66_21524-65d
others(4): Show 
c.21524-66_21524-65delAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 INFO_REALIGN_3_PRIME chr1 39461791
chr1:39461819 T
T
 A
A
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.21524-64T>A
c.21524-64T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 chr1 39461819
chr1:39461835 G
G
 A
A
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21524-48G>A
c.21524-48G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 92/100 chr1 39461835
chr1:39462242 T
T
 A
A
 1 a0003c0002t0001g0154
a0003c0002t0001g0154
 1 HG02809.hp1
HG02809.hp1
 intron_variant MODIFIER c.21678+205T>A
c.21678+205T>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39462242
chr1:39462275 C
C
 T
T
 1 a0003c0002t0001g0143
a0003c0002t0001g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.21678+238C>T
c.21678+238C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39462275
chr1:39462410 A
A
 G
G
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.21678+373A>G
c.21678+373A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39462410
chr1:39462433 G
G
 A
A
 2 a0006c0005t0001g0236
a0006c0005t0001g0244
a0006c0005t0001g0236
a0006c0005t0001g0244
 2 HG04115.hp1
HG04204.hp1
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.21678+396G>A
c.21678+396G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39462433
chr1:39462547 G
G
 A
A
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.21678+510G>A
c.21678+510G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39462547
chr1:39462549 CA
CA
 C
C
 230 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(227): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0052c0046t0001g0068
a0053c0077t0001g0020
 230 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(227): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21678+528delA
c.21678+528delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 INFO_REALIGN_3_PRIME chr1 39462549
chr1:39462819 C
C
 A
A
 1 a0001c0062t0001g0006
a0001c0062t0001g0006
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.21678+782C>A
c.21678+782C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39462819
chr1:39463115 A
A
 G
G
 3 a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
 3 HG02257.hp2
HG03098.hp1
HG03486.hp1
HG02257.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.21679-497A>G
c.21679-497A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39463115
chr1:39463208 T
T
 C
C
 245 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(242): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 245 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(242): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21679-404T>C
c.21679-404T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39463208
chr1:39463209 G
G
 A
A
 2 a0006c0005t0001g0236
a0006c0005t0001g0244
a0006c0005t0001g0236
a0006c0005t0001g0244
 2 HG04115.hp1
HG04204.hp1
HG04115.hp1
HG04204.hp1
 intron_variant MODIFIER c.21679-403G>A
c.21679-403G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39463209
chr1:39463312 C
C
 A
A
 95 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(92): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 95 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(92): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21679-300C>A
c.21679-300C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39463312
chr1:39463395 TAGG
TAGG
 T
T
 27 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(24): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0016c0026t0001g0173
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 27 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(24): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.21679-214_21679-21
others(7): Show 
c.21679-214_21679-212delGAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 INFO_REALIGN_3_PRIME chr1 39463395
chr1:39463419 G
G
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.21679-193G>A
c.21679-193G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39463419
chr1:39463490 C
C
 CA
CA
 35 a0001c0062t0001g0006
a0002c0004t0001g0193
a0002c0004t0001g0195
others(32): Show 
a0001c0062t0001g0006
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0243
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0017c0020t0001g0085
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0033c0053t0001g0200
a0042c0052t0001g0201
 35 HG00639.hp2
HG01109.hp2
HG01884.hp1
others(32): Show 
HG00639.hp2
HG01109.hp2
HG01884.hp1
HG01884.hp2
HG02145.hp2
HG02257.hp1
HG02602.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.21679-107dupA
c.21679-107dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 INFO_REALIGN_3_PRIME chr1 39463490
chr1:39463490 C
C
 CAA
CAA
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21679-108_21679-10
others(6): Show 
c.21679-108_21679-107dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 INFO_REALIGN_3_PRIME chr1 39463490
chr1:39463490 CA
CA
 C
C
 5 a0007c0007t0001g0081
a0009c0014t0001g0190
a0009c0014t0009g0192
others(2): Show 
a0007c0007t0001g0081
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 5 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(2): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
NA18960.hp1
 intron_variant MODIFIER c.21679-107delA
c.21679-107delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 INFO_REALIGN_3_PRIME chr1 39463490
chr1:39463515 T
T
 C
C
 1 a0003c0002t0001g0155
a0003c0002t0001g0155
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.21679-97T>C
c.21679-97T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39463515
chr1:39463568 T
T
 C
C
 109 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(106): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 109 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(106): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp1
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21679-44T>C
c.21679-44T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 93/100 chr1 39463568
chr1:39463744 C
C
 T
T
 34 a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
others(31): Show 
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 34 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(31): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.21753+58C>T
c.21753+58C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 chr1 39463744
chr1:39463910 G
G
 A
A
 43 a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
others(40): Show 
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0016c0026t0001g0174
a0023c0074t0001g0206
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
 43 HG00438.hp2
HG00597.hp1
HG01081.hp1
others(40): Show 
HG00438.hp2
HG00597.hp1
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01346.hp2
HG01884.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp2
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA18953.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA19002.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA19240.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.21753+224G>A
c.21753+224G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 chr1 39463910
chr1:39463983 A
A
 G
G
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.21753+297A>G
c.21753+297A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 chr1 39463983
chr1:39464131 A
A
 T
T
 4 a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
others(1): Show 
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
 4 HG02040.hp1
NA18943.hp1
NA18980.hp1
others(1): Show 
HG02040.hp1
NA18943.hp1
NA18980.hp1
NA19000.hp1
 intron_variant MODIFIER c.21753+445A>T
c.21753+445A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 chr1 39464131
chr1:39464236 G
G
 T
T
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.21753+550G>T
c.21753+550G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 chr1 39464236
chr1:39464584 T
T
 TA
TA
 34 a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
others(31): Show 
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 34 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(31): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.21754-510dupA
c.21754-510dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 INFO_REALIGN_3_PRIME chr1 39464584
chr1:39464685 G
G
 A
A
 1 a0001c0001t0001g0039
a0001c0001t0001g0039
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.21754-410G>A
c.21754-410G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 chr1 39464685
chr1:39464909 CA
CA
 C
C
 100 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(97): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0002g0185
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0009t0003g0217
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 100 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(97): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21754-169delA
c.21754-169delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 94/100 INFO_REALIGN_3_PRIME chr1 39464909
chr1:39465271 G
G
 A
A
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.21771+159G>A
c.21771+159G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39465271
chr1:39465333 G
G
 C
C
 2 a0002c0003t0002g0185
a0038c0054t0002g0178
a0002c0003t0002g0185
a0038c0054t0002g0178
 2 NA18981.hp1
NA18986.hp1
NA18981.hp1
NA18986.hp1
 intron_variant MODIFIER c.21771+221G>C
c.21771+221G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39465333
chr1:39465818 A
A
 G
G
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.21771+706A>G
c.21771+706A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39465818
chr1:39465867 G
G
 A
A
 14 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(11): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
 14 HG01109.hp2
HG01884.hp2
HG02976.hp1
others(11): Show 
HG01109.hp2
HG01884.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.21771+755G>A
c.21771+755G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39465867
chr1:39466186 T
T
 C
C
 1 a0001c0012t0001g0058
a0001c0012t0001g0058
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.21771+1074T>C
c.21771+1074T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39466186
chr1:39466368 A
A
 C
C
 1 a0006c0005t0001g0234
a0006c0005t0001g0234
 1 HG02647.hp2
HG02647.hp2
 intron_variant MODIFIER c.21771+1256A>C
c.21771+1256A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39466368
chr1:39466674 T
T
 G
G
 2 a0003c0002t0001g0128
a0047c0068t0001g0129
a0003c0002t0001g0128
a0047c0068t0001g0129
 2 NA18942.hp1
NA18971.hp2
NA18942.hp1
NA18971.hp2
 intron_variant MODIFIER c.21771+1562T>G
c.21771+1562T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39466674
chr1:39466715 G
G
 T
T
 2 a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0019t0001g0050
a0004c0019t0001g0052
 2 HG02683.hp2
HG04115.hp2
HG02683.hp2
HG04115.hp2
 intron_variant MODIFIER c.21771+1603G>T
c.21771+1603G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39466715
chr1:39466755 T
T
 C
C
 5 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(2): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 5 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(2): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
NA20805.hp1
 intron_variant MODIFIER c.21771+1643T>C
c.21771+1643T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39466755
chr1:39467238 G
G
 T
T
 4 a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
others(1): Show 
a0002c0003t0002g0044
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
 4 HG00597.hp1
HG02132.hp2
NA18987.hp1
others(1): Show 
HG00597.hp1
HG02132.hp2
NA18987.hp1
NA19011.hp2
 intron_variant MODIFIER c.21772-1377G>T
c.21772-1377G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39467238
chr1:39467282 A
A
 G
G
 2 a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0025t0001g0001
a0002c0025t0001g0191
 2 HG02145.hp2
HG03471.hp2
HG02145.hp2
HG03471.hp2
 intron_variant MODIFIER c.21772-1333A>G
c.21772-1333A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39467282
chr1:39467322 G
G
 A
A
 8 a0004c0006t0001g0062
a0004c0006t0001g0074
a0004c0006t0001g0075
others(5): Show 
a0004c0006t0001g0062
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
 8 HG00140.hp1
HG00280.hp2
HG01099.hp1
others(5): Show 
HG00140.hp1
HG00280.hp2
HG01099.hp1
HG01109.hp1
HG01167.hp1
HG02683.hp2
HG04115.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21772-1293G>A
c.21772-1293G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39467322
chr1:39467327 T
T
 C
C
 1 a0040c0051t0001g0205
a0040c0051t0001g0205
 1 NA19010.hp1
NA19010.hp1
 intron_variant MODIFIER c.21772-1288T>C
c.21772-1288T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39467327
chr1:39467343 C
C
 T
T
 4 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(1): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 4 HG02055.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.21772-1272C>T
c.21772-1272C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39467343
chr1:39467366 A
A
 G
G
 34 a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
others(31): Show 
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 34 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(31): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.21772-1249A>G
c.21772-1249A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39467366
chr1:39468023 T
T
 G
G
 1 a0015c0022t0001g0005
a0015c0022t0001g0005
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.21772-592T>G
c.21772-592T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39468023
chr1:39468223 A
A
 G
G
 8 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
others(5): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21772-392A>G
c.21772-392A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39468223
chr1:39468468 A
A
 T
T
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.21772-147A>T
c.21772-147A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 95/100 chr1 39468468
chr1:39468827 G
G
 C
C
 1 a0001c0001t0001g0043
a0001c0001t0001g0043
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.21889+95G>C
c.21889+95G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 96/100 chr1 39468827
chr1:39469041 A
A
 G
G
 159 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(156): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0025c0030t0001g0067
a0026c0049t0001g0002
a0032c0043t0001g0064
a0036c0048t0001g0008
a0037c0058t0001g0245
a0039c0042t0001g0021
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 159 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(156): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21889+309A>G
c.21889+309A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 96/100 chr1 39469041
chr1:39469104 A
A
 T
T
 97 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(94): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 97 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(94): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21889+372A>T
c.21889+372A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 96/100 chr1 39469104
chr1:39469282 A
A
 G
G
 4 a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
others(1): Show 
a0001c0001t0001g0017
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0097
 4 HG02074.hp1
NA18942.hp2
NA18969.hp2
others(1): Show 
HG02074.hp1
NA18942.hp2
NA18969.hp2
NA18973.hp1
 intron_variant MODIFIER c.21890-265A>G
c.21890-265A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 96/100 chr1 39469282
chr1:39470048 A
A
 G
G
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.21958+433A>G
c.21958+433A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39470048
chr1:39470612 C
C
 G
G
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.21958+997C>G
c.21958+997C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39470612
chr1:39470895 C
C
 T
T
 5 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(2): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 5 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(2): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
NA20805.hp1
 intron_variant MODIFIER c.21958+1280C>T
c.21958+1280C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39470895
chr1:39470968 A
A
 C
C
 4 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(1): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 4 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.21958+1353A>C
c.21958+1353A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39470968
chr1:39471127 CTG
CTG
 C
C
 48 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(45): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 48 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(45): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21958+1515_21958+1
others(8): Show 
c.21958+1515_21958+1516delTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39471127
chr1:39471359 G
G
 A
A
 5 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(2): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 5 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(2): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
NA20805.hp1
 intron_variant MODIFIER c.21958+1744G>A
c.21958+1744G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39471359
chr1:39471389 C
C
 A
A
 3 a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
 3 HG01106.hp1
HG02602.hp2
HG03239.hp2
HG01106.hp1
HG02602.hp2
HG03239.hp2
 intron_variant MODIFIER c.21958+1774C>A
c.21958+1774C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39471389
chr1:39471417 A
A
 G
G
 1 a0032c0043t0001g0064
a0032c0043t0001g0064
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.21958+1802A>G
c.21958+1802A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39471417
chr1:39471822 AT
AT
 A
A
 50 a0001c0001t0001g0087
a0002c0039t0001g0073
a0003c0002t0001g0108
others(47): Show 
a0001c0001t0001g0087
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0008t0001g0207
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 50 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(47): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18990.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21958+2217delT
c.21958+2217delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39471822
chr1:39471930 G
G
 T
T
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.21958+2315G>T
c.21958+2315G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39471930
chr1:39472024 G
G
 A
A
 97 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(94): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 97 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(94): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21958+2409G>A
c.21958+2409G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39472024
chr1:39472585 C
C
 T
T
 47 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(44): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 47 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(44): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21958+2970C>T
c.21958+2970C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39472585
chr1:39472748 A
A
 G
G
 1 a0001c0001t0001g0019
a0001c0001t0001g0019
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.21958+3133A>G
c.21958+3133A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39472748
chr1:39472775 A
A
 G
G
 1 a0006c0005t0001g0236
a0006c0005t0001g0236
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.21958+3160A>G
c.21958+3160A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39472775
chr1:39473127 G
G
 A
A
 1 a0009c0014t0009g0192
a0009c0014t0009g0192
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.21958+3512G>A
c.21958+3512G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473127
chr1:39473276 C
C
 T
T
 17 a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
others(14): Show 
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
a0046c0044t0001g0100
 17 HG00558.hp2
HG00609.hp1
HG01106.hp2
others(14): Show 
HG00558.hp2
HG00609.hp1
HG01106.hp2
HG01433.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02523.hp1
HG02523.hp2
HG02738.hp2
HG03239.hp1
HG03704.hp1
NA18954.hp1
NA18960.hp1
NA18975.hp1
NA19080.hp2
 intron_variant MODIFIER c.21958+3661C>T
c.21958+3661C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473276
chr1:39473382 C
C
 T
T
 2 a0001c0001t0001g0030
a0001c0001t0001g0099
a0001c0001t0001g0030
a0001c0001t0001g0099
 2 HG00735.hp1
HG03491.hp1
HG00735.hp1
HG03491.hp1
 intron_variant MODIFIER c.21958+3767C>T
c.21958+3767C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473382
chr1:39473441 T
T
 C
C
 1 a0008c0010t0001g0208
a0008c0010t0001g0208
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.21958+3826T>C
c.21958+3826T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473441
chr1:39473517 T
T
 C
C
 7 a0001c0062t0001g0006
a0002c0004t0001g0199
a0002c0004t0001g0202
others(4): Show 
a0001c0062t0001g0006
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0011g0194
a0033c0053t0001g0200
a0042c0052t0001g0201
 7 HG02257.hp1
HG02717.hp1
HG02818.hp1
others(4): Show 
HG02257.hp1
HG02717.hp1
HG02818.hp1
HG02895.hp2
HG02897.hp2
HG03540.hp1
NA19030.hp2
 intron_variant MODIFIER c.21958+3902T>C
c.21958+3902T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473517
chr1:39473527 C
C
 G
G
 245 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(242): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0006c0005t0001g0242
a0006c0005t0001g0243
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 245 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(242): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.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
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21958+3912C>G
c.21958+3912C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473527
chr1:39473550 A
A
 G
G
 3 a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
 3 HG02257.hp2
HG03098.hp1
HG03486.hp1
HG02257.hp2
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.21958+3935A>G
c.21958+3935A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473550
chr1:39473623 G
G
 A
A
 16 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(13): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
 16 HG01109.hp2
HG01884.hp2
HG02965.hp1
others(13): Show 
HG01109.hp2
HG01884.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.21958+4008G>A
c.21958+4008G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473623
chr1:39473705 A
A
 ACT
ACT
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21958+4091_21958+4
others(8): Show 
c.21958+4091_21958+4092dupCT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39473705
chr1:39473824 G
G
 A
A
 1 a0048c0065t0001g0141
a0048c0065t0001g0141
 1 HG02135.hp2
HG02135.hp2
 intron_variant MODIFIER c.21958+4209G>A
c.21958+4209G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39473824
chr1:39474029 A
A
 G
G
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21958+4414A>G
c.21958+4414A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474029
chr1:39474111 G
G
 A
A
 1 a0043c0057t0001g0168
a0043c0057t0001g0168
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.21958+4496G>A
c.21958+4496G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474111
chr1:39474160 G
G
 A
A
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.21958+4545G>A
c.21958+4545G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474160
chr1:39474304 G
G
 A
A
 1 a0001c0001t0001g0017
a0001c0001t0001g0017
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.21958+4689G>A
c.21958+4689G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474304
chr1:39474358 C
C
 T
T
 7 a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
others(4): Show 
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
a0037c0058t0001g0245
 7 HG01243.hp2
HG02109.hp1
HG02572.hp2
others(4): Show 
HG01243.hp2
HG02109.hp1
HG02572.hp2
HG03453.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.21958+4743C>T
c.21958+4743C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474358
chr1:39474359 G
G
 A
A
 2 a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0011
a0002c0004t0001g0012
 2 HG02922.hp2
NA20129.hp1
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.21958+4744G>A
c.21958+4744G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474359
chr1:39474551 C
C
 T
T
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0032
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0039c0042t0001g0021
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0052c0046t0001g0068
a0053c0077t0001g0020
 92 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp2
HG02738.hp2
HG02886.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21958+4936C>T
c.21958+4936C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474551
chr1:39474617 C
C
 T
T
 13 a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
others(10): Show 
a0001c0001t0001g0018
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0037t0001g0095
a0001c0041t0001g0072
a0032c0043t0001g0064
a0044c0032t0001g0102
 13 HG00140.hp2
HG00741.hp2
HG01261.hp2
others(10): Show 
HG00140.hp2
HG00741.hp2
HG01261.hp2
HG02015.hp2
HG02040.hp1
HG02615.hp2
HG02723.hp2
HG02886.hp1
HG03704.hp2
HG03927.hp1
NA18943.hp1
NA18980.hp1
NA19000.hp1
 intron_variant MODIFIER c.21958+5002C>T
c.21958+5002C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474617
chr1:39474721 T
T
 G
G
 1 a0002c0003t0002g0246
a0002c0003t0002g0246
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.21959-5077T>G
c.21959-5077T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474721
chr1:39474758 G
G
 A
A
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.21959-5040G>A
c.21959-5040G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474758
chr1:39474827 T
T
 C
C
 47 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(44): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 47 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(44): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21959-4971T>C
c.21959-4971T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474827
chr1:39474852 G
G
 A
A
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.21959-4946G>A
c.21959-4946G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474852
chr1:39474916 G
G
 A
A
 34 a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
others(31): Show 
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0020c0075t0001g0211
a0022c0072t0001g0209
a0033c0053t0001g0200
a0040c0051t0001g0205
a0042c0052t0001g0201
 34 HG00639.hp2
HG00642.hp1
HG01069.hp2
others(31): Show 
HG00639.hp2
HG00642.hp1
HG01069.hp2
HG01884.hp1
HG02145.hp2
HG02257.hp1
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp2
HG02922.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19010.hp1
NA19030.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.21959-4882G>A
c.21959-4882G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474916
chr1:39474988 T
T
 C
C
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.21959-4810T>C
c.21959-4810T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39474988
chr1:39475113 C
C
 T
T
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.21959-4685C>T
c.21959-4685C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475113
chr1:39475123 C
C
 T
T
 1 a0036c0048t0001g0008
a0036c0048t0001g0008
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.21959-4675C>T
c.21959-4675C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475123
chr1:39475217 C
C
 T
T
 5 a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
others(2): Show 
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
 5 HG00642.hp2
HG00735.hp2
HG02602.hp1
others(2): Show 
HG00642.hp2
HG00735.hp2
HG02602.hp1
HG03927.hp2
NA20805.hp1
 intron_variant MODIFIER c.21959-4581C>T
c.21959-4581C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475217
chr1:39475346 G
G
 A
A
 3 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
 3 HG02965.hp2
NA19043.hp1
NA20300.hp1
HG02965.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21959-4452G>A
c.21959-4452G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475346
chr1:39475468 C
C
 CA
CA
 107 a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
others(104): Show 
a0001c0001t0001g0015
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0032
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0004t0001g0193
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0019t0001g0050
a0004c0019t0001g0052
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0244
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0003g0213
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0023c0074t0001g0206
a0025c0030t0001g0067
a0032c0043t0001g0064
a0033c0053t0001g0200
a0039c0042t0001g0021
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0052c0046t0001g0068
 107 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(104): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00438.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01081.hp2
HG01099.hp1
HG01109.hp2
HG01167.hp1
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp2
NA19030.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-4313dupA
c.21959-4313dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39475468
chr1:39475468 C
C
 CAA
CAA
 9 a0001c0001t0001g0017
a0001c0001t0001g0046
a0001c0017t0001g0029
others(6): Show 
a0001c0001t0001g0017
a0001c0001t0001g0046
a0001c0017t0001g0029
a0001c0040t0001g0014
a0004c0006t0001g0049
a0004c0011t0003g0167
a0010c0064t0004g0133
a0011c0013t0001g0076
a0053c0077t0001g0020
 9 HG00609.hp1
HG02055.hp2
HG02071.hp2
others(6): Show 
HG00609.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02486.hp2
HG03098.hp1
NA18522.hp1
NA18973.hp1
NA18987.hp2
 intron_variant MODIFIER c.21959-4314_21959-4
others(8): Show 
c.21959-4314_21959-4313dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39475468
chr1:39475468 C
C
 CAAAA
CAAAA
 40 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
others(37): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 40 HG00280.hp1
HG00544.hp1
HG00639.hp1
others(37): Show 
HG00280.hp1
HG00544.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00741.hp1
HG01261.hp1
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02809.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19088.hp1
NA19091.hp1
 intron_variant MODIFIER c.21959-4316_21959-4
others(10): Show 
c.21959-4316_21959-4313dupAAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39475468
chr1:39475468 CA
CA
 C
C
 5 a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0034
others(2): Show 
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0009c0014t0010g0225
 5 HG00597.hp2
HG03041.hp1
NA18953.hp1
others(2): Show 
HG00597.hp2
HG03041.hp1
NA18953.hp1
NA18999.hp1
NA19083.hp1
 intron_variant MODIFIER c.21959-4313delA
c.21959-4313delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39475468
chr1:39475770 C
C
 T
T
 1 a0003c0071t0001g0120
a0003c0071t0001g0120
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.21959-4028C>T
c.21959-4028C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475770
chr1:39475817 A
A
 G
G
 3 a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
 3 HG03239.hp2
NA18960.hp2
NA19011.hp1
HG03239.hp2
NA18960.hp2
NA19011.hp1
 intron_variant MODIFIER c.21959-3981A>G
c.21959-3981A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475817
chr1:39475818 TA
TA
 T
T
 3 a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
 3 HG03239.hp2
NA18960.hp2
NA19011.hp1
HG03239.hp2
NA18960.hp2
NA19011.hp1
 intron_variant MODIFIER c.21959-3978delA
c.21959-3978delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39475818
chr1:39475824 T
T
 C
C
 3 a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
 3 HG03239.hp2
NA18960.hp2
NA19011.hp1
HG03239.hp2
NA18960.hp2
NA19011.hp1
 intron_variant MODIFIER c.21959-3974T>C
c.21959-3974T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475824
chr1:39475825 A
A
 G
G
 3 a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
a0003c0002t0001g0125
a0003c0002t0001g0131
a0006c0005t0001g0242
 3 HG03239.hp2
NA18960.hp2
NA19011.hp1
HG03239.hp2
NA18960.hp2
NA19011.hp1
 intron_variant MODIFIER c.21959-3973A>G
c.21959-3973A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475825
chr1:39475836 C
C
 A
A
 1 a0006c0005t0001g0243
a0006c0005t0001g0243
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.21959-3962C>A
c.21959-3962C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475836
chr1:39475862 C
C
 A
A
 1 a0002c0003t0002g0188
a0002c0003t0002g0188
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.21959-3936C>A
c.21959-3936C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475862
chr1:39475863 A
A
 G
G
 44 a0001c0001t0001g0023
a0001c0001t0001g0103
a0001c0001t0001g0104
others(41): Show 
a0001c0001t0001g0023
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0012t0001g0059
a0001c0031t0001g0106
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0193
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0002g0137
a0006c0005t0001g0242
a0017c0020t0001g0085
a0027c0063t0002g0229
a0031c0059t0002g0177
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0043c0057t0001g0168
a0051c0045t0012g0022
 44 HG00438.hp2
HG00597.hp1
HG00597.hp2
others(41): Show 
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG01081.hp1
HG01099.hp2
HG01167.hp2
HG01243.hp1
HG01346.hp2
HG02071.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02738.hp2
HG02896.hp2
HG03239.hp2
HG03491.hp2
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp2
NA18962.hp2
NA18969.hp1
NA18974.hp2
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18987.hp1
NA18988.hp2
NA18990.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.21959-3935A>G
c.21959-3935A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475863
chr1:39475900 C
C
 T
T
 7 a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
others(4): Show 
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0036c0048t0001g0008
 7 HG02109.hp1
HG02965.hp2
HG03453.hp2
others(4): Show 
HG02109.hp1
HG02965.hp2
HG03453.hp2
NA19030.hp1
NA19043.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.21959-3898C>T
c.21959-3898C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475900
chr1:39475948 A
A
 G
G
 6 a0001c0001t0001g0061
a0001c0062t0001g0006
a0002c0004t0001g0009
others(3): Show 
a0001c0001t0001g0061
a0001c0062t0001g0006
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
 6 HG02486.hp1
HG02886.hp2
HG02922.hp2
others(3): Show 
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03130.hp1
NA19030.hp2
NA20129.hp1
 intron_variant MODIFIER c.21959-3850A>G
c.21959-3850A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475948
chr1:39475960 T
T
 G
G
 1 a0001c0062t0001g0006
a0001c0062t0001g0006
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.21959-3838T>G
c.21959-3838T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475960
chr1:39475967 A
A
 G
G
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.21959-3831A>G
c.21959-3831A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475967
chr1:39475979 G
G
 T
T
 7 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(4): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
 7 HG00639.hp2
HG01884.hp1
HG02647.hp1
others(4): Show 
HG00639.hp2
HG01884.hp1
HG02647.hp1
HG02723.hp1
HG02896.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.21959-3819G>T
c.21959-3819G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39475979
chr1:39476191 A
A
 G
G
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.21959-3607A>G
c.21959-3607A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476191
chr1:39476292 T
T
 C
C
 1 a0049c0067t0001g0116
a0049c0067t0001g0116
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.21959-3506T>C
c.21959-3506T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476292
chr1:39476300 G
G
 A
A
 7 a0004c0006t0001g0049
a0004c0006t0001g0069
a0009c0014t0001g0190
others(4): Show 
a0004c0006t0001g0049
a0004c0006t0001g0069
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0052c0046t0001g0068
 7 HG01069.hp1
HG01069.hp2
HG02486.hp2
others(4): Show 
HG01069.hp1
HG01069.hp2
HG02486.hp2
HG03041.hp1
HG03130.hp2
HG03209.hp1
HG03579.hp1
 intron_variant MODIFIER c.21959-3498G>A
c.21959-3498G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476300
chr1:39476325 C
C
 G
G
 36 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
others(33): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0002g0137
a0007c0007t0002g0054
a0007c0007t0002g0057
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
a0051c0045t0012g0022
 36 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(33): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18974.hp2
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.21959-3473C>G
c.21959-3473C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476325
chr1:39476431 G
G
 A
A
 3 a0001c0001t0001g0048
a0001c0001t0001g0070
a0017c0020t0001g0086
a0001c0001t0001g0048
a0001c0001t0001g0070
a0017c0020t0001g0086
 3 HG01081.hp2
HG01433.hp1
HG01981.hp1
HG01081.hp2
HG01433.hp1
HG01981.hp1
 intron_variant MODIFIER c.21959-3367G>A
c.21959-3367G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476431
chr1:39476497 G
G
 A
A
 1 a0003c0002t0001g0115
a0003c0002t0001g0115
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.21959-3301G>A
c.21959-3301G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476497
chr1:39476546 G
G
 A
A
 1 a0029c0061t0003g0232
a0029c0061t0003g0232
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.21959-3252G>A
c.21959-3252G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476546
chr1:39476570 C
C
 CA
CA
 46 a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
others(43): Show 
a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 46 HG00140.hp2
HG00280.hp1
HG00639.hp1
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21959-3216dupA
c.21959-3216dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39476570
chr1:39476625 C
C
 G
G
 46 a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
others(43): Show 
a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 46 HG00140.hp2
HG00280.hp1
HG00639.hp1
others(43): Show 
HG00140.hp2
HG00280.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21959-3173C>G
c.21959-3173C>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476625
chr1:39476638 A
A
 G
G
 1 a0002c0004t0001g0193
a0002c0004t0001g0193
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.21959-3160A>G
c.21959-3160A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476638
chr1:39476689 A
A
 G
G
 35 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
others(32): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0002g0137
a0007c0007t0002g0054
a0007c0007t0002g0057
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
 35 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(32): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.21959-3109A>G
c.21959-3109A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476689
chr1:39476773 G
G
 A
A
 4 a0014c0021t0001g0226
a0014c0021t0001g0227
a0037c0058t0001g0245
others(1): Show 
a0014c0021t0001g0226
a0014c0021t0001g0227
a0037c0058t0001g0245
a0043c0057t0001g0168
 4 HG01243.hp1
HG01243.hp2
HG02896.hp1
others(1): Show 
HG01243.hp1
HG01243.hp2
HG02896.hp1
HG02897.hp1
 intron_variant MODIFIER c.21959-3025G>A
c.21959-3025G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476773
chr1:39476912 C
C
 T
T
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.21959-2886C>T
c.21959-2886C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39476912
chr1:39477045 G
G
 GTA
GTA
 3 a0001c0001t0001g0065
a0004c0011t0003g0169
a0013c0023t0001g0004
a0001c0001t0001g0065
a0004c0011t0003g0169
a0013c0023t0001g0004
 3 HG00140.hp2
HG03453.hp2
HG06807.hp1
HG00140.hp2
HG03453.hp2
HG06807.hp1
 intron_variant MODIFIER c.21959-2708_21959-2
others(8): Show 
c.21959-2708_21959-2707dupTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTA
GTA
 G
G
 8 a0003c0002t0001g0115
a0003c0002t0001g0125
a0003c0002t0001g0126
others(5): Show 
a0003c0002t0001g0115
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0134
a0003c0002t0001g0142
a0003c0002t0001g0160
a0003c0066t0001g0117
a0045c0070t0001g0144
 8 HG00733.hp2
HG02015.hp1
HG02074.hp2
others(5): Show 
HG00733.hp2
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG03540.hp2
NA18943.hp2
NA18960.hp2
NA19000.hp2
 intron_variant MODIFIER c.21959-2708_21959-2
others(8): Show 
c.21959-2708_21959-2707delTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATA
GTATA
 G
G
 13 a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
others(10): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
a0003c0002t0001g0118
a0003c0002t0001g0128
a0003c0002t0001g0135
a0003c0002t0001g0155
a0003c0002t0001g0159
a0006c0005t0001g0235
a0018c0027t0001g0158
a0036c0048t0001g0008
a0047c0068t0001g0129
a0052c0046t0001g0068
 13 HG00280.hp1
HG01069.hp1
HG02572.hp1
others(10): Show 
HG00280.hp1
HG01069.hp1
HG02572.hp1
HG02602.hp1
HG03927.hp2
NA18942.hp1
NA18971.hp2
NA18973.hp2
NA18980.hp2
NA18995.hp2
NA19030.hp1
NA19083.hp2
NA19084.hp1
 intron_variant MODIFIER c.21959-2710_21959-2
others(10): Show 
c.21959-2710_21959-2707delTATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATA
GTATATA
 G
G
 5 a0003c0002t0001g0148
a0003c0002t0001g0152
a0018c0027t0001g0157
others(2): Show 
a0003c0002t0001g0148
a0003c0002t0001g0152
a0018c0027t0001g0157
a0026c0049t0001g0002
a0048c0065t0001g0141
 5 HG02135.hp2
NA18974.hp1
NA18975.hp2
others(2): Show 
HG02135.hp2
NA18974.hp1
NA18975.hp2
NA19085.hp2
NA20129.hp2
 intron_variant MODIFIER c.21959-2712_21959-2
others(12): Show 
c.21959-2712_21959-2707delTATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATAT
others(3): Show 
GTATATATATA
 G
G
 5 a0004c0019t0001g0052
a0006c0005t0001g0234
a0006c0005t0001g0237
others(2): Show 
a0004c0019t0001g0052
a0006c0005t0001g0234
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0243
 5 HG01106.hp1
HG02602.hp2
HG02647.hp2
others(2): Show 
HG01106.hp1
HG02602.hp2
HG02647.hp2
HG03239.hp2
HG04115.hp2
 intron_variant MODIFIER c.21959-2716_21959-2
others(16): Show 
c.21959-2716_21959-2707delTATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATAT
others(5): Show 
GTATATATATATA
 G
G
 1 a0006c0005t0001g0236
a0006c0005t0001g0236
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.21959-2718_21959-2
others(18): Show 
c.21959-2718_21959-2707delTATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATAT
others(7): Show 
GTATATATATATATA
 G
G
 1 a0006c0005t0001g0244
a0006c0005t0001g0244
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.21959-2720_21959-2
others(20): Show 
c.21959-2720_21959-2707delTATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATAT
others(9): Show 
GTATATATATATATATA
 G
G
 3 a0001c0001t0001g0053
a0002c0003t0002g0044
a0038c0054t0002g0178
a0001c0001t0001g0053
a0002c0003t0002g0044
a0038c0054t0002g0178
 3 HG00597.hp1
HG00741.hp2
NA18981.hp1
HG00597.hp1
HG00741.hp2
NA18981.hp1
 intron_variant MODIFIER c.21959-2722_21959-2
others(22): Show 
c.21959-2722_21959-2707delTATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATAT
others(11): Show 
GTATATATATATATATATA
 G
G
 5 a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0182
others(2): Show 
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0182
a0003c0002t0002g0137
a0031c0059t0002g0177
 5 HG02155.hp2
NA18962.hp2
NA18969.hp1
others(2): Show 
HG02155.hp2
NA18962.hp2
NA18969.hp1
NA18990.hp2
NA19080.hp1
 intron_variant MODIFIER c.21959-2724_21959-2
others(24): Show 
c.21959-2724_21959-2707delTATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATAT
others(15): Show 
GTATATATATATATATATATATA
 G
G
 4 a0002c0003t0002g0188
a0014c0021t0001g0226
a0014c0021t0001g0227
others(1): Show 
a0002c0003t0002g0188
a0014c0021t0001g0226
a0014c0021t0001g0227
a0043c0057t0001g0168
 4 HG01243.hp1
HG02896.hp1
HG02897.hp1
others(1): Show 
HG01243.hp1
HG02896.hp1
HG02897.hp1
NA20805.hp2
 intron_variant MODIFIER c.21959-2728_21959-2
others(28): Show 
c.21959-2728_21959-2707delTATATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477045 GTATATAT
others(21): Show 
GTATATATATATATATATATATATATATA
 G
G
 4 a0002c0025t0001g0001
a0002c0025t0001g0191
a0015c0022t0001g0005
others(1): Show 
a0002c0025t0001g0001
a0002c0025t0001g0191
a0015c0022t0001g0005
a0015c0022t0001g0007
 4 HG02145.hp2
HG02572.hp2
HG03471.hp2
others(1): Show 
HG02145.hp2
HG02572.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.21959-2734_21959-2
others(34): Show 
c.21959-2734_21959-2707delTATATATATATATATATATATATA
TATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477045
chr1:39477047 A
A
 G
G
 1 a0001c0036t0002g0035
a0001c0036t0002g0035
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.21959-2751A>G
c.21959-2751A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477047
chr1:39477049 A
A
 G
G
 1 a0004c0011t0003g0170
a0004c0011t0003g0170
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.21959-2749A>G
c.21959-2749A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477049
chr1:39477049 ATATATAT
others(62): Show 
ATATATATATATATATATATATATATATATATATATATATATACACACAC
ACACATATATACACTTAGTG
 A
A
 1 a0030c0060t0001g0241
a0030c0060t0001g0241
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.21959-2730_21959-2
others(75): Show 
c.21959-2730_21959-2662delTATATATATATATATATATATATA
CACACACACACATATATACACTTAGTGTATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477049
chr1:39477066 T
T
 TATACACA
others(5): Show 
TATACACACACAC
 1 a0004c0006t0001g0062
a0004c0006t0001g0062
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.21959-2729_21959-2
others(18): Show 
c.21959-2729_21959-2728insCACACACACATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477066
chr1:39477067 A
A
 ATATATAT
others(24): Show 
ATATATATACACACACATATATACACTTAGTG
 2 a0002c0004t0001g0202
a0002c0004t0011g0194
a0002c0004t0001g0202
a0002c0004t0011g0194
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.21959-2723_21959-2
others(37): Show 
c.21959-2723_21959-2722insCACACACATATATACACTTAGTGT
ATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477067
chr1:39477068 T
T
 TATACACA
others(3): Show 
TATACACACAC
 1 a0034c0056t0001g0176
a0034c0056t0001g0176
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.21959-2727_21959-2
others(16): Show 
c.21959-2727_21959-2726insCACACACATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477068
chr1:39477068 T
T
 TATACACA
others(5): Show 
TATACACACACAC
 1 a0004c0006t0001g0077
a0004c0006t0001g0077
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.21959-2727_21959-2
others(18): Show 
c.21959-2727_21959-2726insCACACACACATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477068
chr1:39477070 T
T
 TATACACA
others(3): Show 
TATACACACAC
 9 a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0042
others(6): Show 
a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0070
a0001c0001t0001g0096
a0001c0001t0001g0105
a0001c0012t0001g0059
a0010c0016t0004g0140
a0025c0030t0001g0067
 9 HG00558.hp2
HG01081.hp2
HG01952.hp2
others(6): Show 
HG00558.hp2
HG01081.hp2
HG01952.hp2
HG02004.hp2
HG02040.hp1
HG02273.hp1
HG02280.hp2
NA18954.hp1
NA19085.hp1
 intron_variant MODIFIER c.21959-2725_21959-2
others(16): Show 
c.21959-2725_21959-2724insCACACACATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477070
chr1:39477070 TATATATA
others(15): Show 
TATATATATATATATATATATAC
 T
T
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0037c0058t0001g0245
 5 HG00642.hp1
HG01243.hp2
HG02717.hp2
others(2): Show 
HG00642.hp1
HG01243.hp2
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.21959-2726_21959-2
others(28): Show 
c.21959-2726_21959-2705delTATATATATATATATATATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477070
chr1:39477071 A
A
 ACACACAC
others(16): Show 
ACACACACACATATATACACTTAG
 6 a0001c0012t0001g0060
a0003c0002t0001g0154
a0004c0006t0001g0074
others(3): Show 
a0001c0012t0001g0060
a0003c0002t0001g0154
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0083
a0004c0035t0001g0063
 6 HG00140.hp1
HG00280.hp2
HG01167.hp1
others(3): Show 
HG00140.hp1
HG00280.hp2
HG01167.hp1
HG02809.hp1
HG03704.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2727_21959-2
others(29): Show 
c.21959-2727_21959-2726insCACACACACATATATACACTTAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477071
chr1:39477071 A
A
 ATACACAC
others(18): Show 
ATACACACACATATATACACTTAGTG
 4 a0001c0001t0001g0026
a0001c0001t0001g0071
a0001c0001t0001g0080
others(1): Show 
a0001c0001t0001g0026
a0001c0001t0001g0071
a0001c0001t0001g0080
a0007c0007t0001g0101
 4 HG02523.hp1
HG02723.hp2
HG03927.hp1
others(1): Show 
HG02523.hp1
HG02723.hp2
HG03927.hp1
NA18939.hp1
 intron_variant MODIFIER c.21959-2725_21959-2
others(31): Show 
c.21959-2725_21959-2724insCACACACATATATACACTTAGTGT
A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477071
chr1:39477071 A
A
 ATATACAC
others(20): Show 
ATATACACACACATATATACACTTAGTG
 1 a0001c0001t0001g0018
a0001c0001t0001g0018
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.21959-2723_21959-2
others(33): Show 
c.21959-2723_21959-2722insCACACACATATATACACTTAGTGT
ATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477071
chr1:39477072 TATATATA
others(13): Show 
TATATATATATATATATATAC
 T
T
 2 a0002c0003t0002g0228
a0022c0072t0001g0209
a0002c0003t0002g0228
a0022c0072t0001g0209
 2 HG02071.hp1
HG02615.hp1
HG02071.hp1
HG02615.hp1
 intron_variant MODIFIER c.21959-2724_21959-2
others(26): Show 
c.21959-2724_21959-2705delTATATATATATATATATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477072
chr1:39477073 A
A
 ACACACAC
others(14): Show 
ACACACACATATATACACTTAG
 42 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0023
others(39): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0099
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0002c0003t0001g0186
a0003c0002t0001g0143
a0004c0006t0001g0049
a0004c0006t0001g0069
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0016c0026t0001g0173
a0017c0020t0001g0086
a0039c0042t0001g0021
a0040c0051t0001g0205
a0051c0045t0012g0022
a0053c0077t0001g0020
 42 HG00609.hp1
HG00733.hp1
HG00735.hp1
others(39): Show 
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01361.hp1
HG01433.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02145.hp1
HG02165.hp1
HG02486.hp2
HG02523.hp2
HG03209.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG04204.hp2
NA18942.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.21959-2725_21959-2
others(27): Show 
c.21959-2725_21959-2724insCACACACATATATACACTTAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477073
chr1:39477073 A
A
 ACACACAC
others(16): Show 
ACACACACATATATACACTTAGTG
 14 a0001c0001t0001g0019
a0001c0001t0001g0098
a0001c0001t0001g0103
others(11): Show 
a0001c0001t0001g0019
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0107
a0001c0012t0001g0058
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0006c0005t0001g0239
a0017c0020t0001g0085
a0032c0043t0001g0064
a0041c0033t0001g0055
a0044c0032t0001g0102
 14 HG00438.hp1
HG01106.hp2
HG02015.hp2
others(11): Show 
HG00438.hp1
HG01106.hp2
HG02015.hp2
HG02129.hp2
HG02615.hp2
HG02738.hp2
HG02886.hp1
HG02976.hp2
HG03041.hp2
HG03704.hp2
NA18522.hp1
NA18943.hp1
NA18980.hp1
NA19000.hp1
 intron_variant MODIFIER c.21959-2725_21959-2
others(29): Show 
c.21959-2725_21959-2724insCACACACATATATACACTTAGTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477073
chr1:39477073 A
A
 ACACACAC
others(65): Show 
ACACACACATATATACACTTAGTGTATATATATATATATATATATATATA
TACACACACATATATACACTTAG
 1 a0001c0034t0001g0090
a0001c0034t0001g0090
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.21959-2725_21959-2
others(78): Show 
c.21959-2725_21959-2724insCACACACATATATACACTTAGTGT
ATATATATATATATATATATATATATACACACACATATATACACTTAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477073
chr1:39477073 A
A
 ATACACAC
others(18): Show 
ATACACACACATATATACACTTAGTG
 2 a0011c0013t0001g0076
a0011c0013t0001g0079
a0011c0013t0001g0076
a0011c0013t0001g0079
 2 HG03098.hp1
HG03486.hp1
HG03098.hp1
HG03486.hp1
 intron_variant MODIFIER c.21959-2723_21959-2
others(31): Show 
c.21959-2723_21959-2722insCACACACATATATACACTTAGTGT
A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477073
chr1:39477073 A
A
 ATATACAC
others(20): Show 
ATATACACACACATATATACACTTAGTG
 2 a0001c0001t0001g0051
a0011c0013t0001g0078
a0001c0001t0001g0051
a0011c0013t0001g0078
 2 HG02257.hp2
NA19240.hp2
HG02257.hp2
NA19240.hp2
 intron_variant MODIFIER c.21959-2721_21959-2
others(33): Show 
c.21959-2721_21959-2720insCACACACATATATACACTTAGTGT
ATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477073
chr1:39477073 A
A
 G
G
 6 a0001c0012t0001g0060
a0003c0002t0001g0154
a0004c0006t0001g0074
others(3): Show 
a0001c0012t0001g0060
a0003c0002t0001g0154
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0083
a0004c0035t0001g0063
 6 HG00140.hp1
HG00280.hp2
HG01167.hp1
others(3): Show 
HG00140.hp1
HG00280.hp2
HG01167.hp1
HG02809.hp1
HG03704.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2725A>G
c.21959-2725A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477073
chr1:39477074 TATATATA
others(11): Show 
TATATATATATATATATAC
 T
T
 24 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
others(21): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0153
a0003c0071t0001g0120
a0007c0007t0002g0054
a0007c0007t0002g0057
a0016c0026t0001g0174
a0035c0055t0002g0179
a0049c0067t0001g0116
a0050c0069t0001g0123
 24 HG00438.hp2
HG00544.hp2
HG00597.hp2
others(21): Show 
HG00438.hp2
HG00544.hp2
HG00597.hp2
HG00609.hp2
HG00741.hp1
HG01081.hp1
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02132.hp1
HG02135.hp1
HG02155.hp1
HG02165.hp2
HG02273.hp2
HG03491.hp2
NA18953.hp1
NA18966.hp1
NA18995.hp1
NA18999.hp2
NA19083.hp1
NA19091.hp1
 intron_variant MODIFIER c.21959-2722_21959-2
others(24): Show 
c.21959-2722_21959-2705delTATATATATATATATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477074
chr1:39477074 TATATATA
others(13): Show 
TATATATATATATATATACAC
 T
T
 14 a0001c0062t0001g0006
a0002c0004t0001g0193
a0002c0004t0001g0195
others(11): Show 
a0001c0062t0001g0006
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0003c0002t0001g0151
a0009c0014t0009g0192
a0009c0047t0001g0189
a0033c0053t0001g0200
a0042c0052t0001g0201
 14 HG00639.hp2
HG01069.hp2
HG01884.hp1
others(11): Show 
HG00639.hp2
HG01069.hp2
HG01884.hp1
HG02257.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02896.hp2
HG03486.hp2
HG03490.hp1
HG03540.hp1
HG03579.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.21959-2722_21959-2
others(26): Show 
c.21959-2722_21959-2703delTATATATATATATATACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477074
chr1:39477075 A
A
 ACACACAC
others(14): Show 
ACACACACATATATACACTTAG
 3 a0012c0029t0001g0212
a0023c0074t0001g0206
a0029c0061t0003g0232
a0012c0029t0001g0212
a0023c0074t0001g0206
a0029c0061t0003g0232
 3 HG01884.hp2
HG03195.hp2
HG06807.hp2
HG01884.hp2
HG03195.hp2
HG06807.hp2
 intron_variant MODIFIER c.21959-2723_21959-2
others(27): Show 
c.21959-2723_21959-2722insCACACACATATATACACTTAG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477075
chr1:39477075 A
A
 ACACACAC
others(16): Show 
ACACACACATATATACACTTAGTG
 4 a0001c0001t0001g0097
a0003c0002t0001g0139
a0028c0050t0008g0233
others(1): Show 
a0001c0001t0001g0097
a0003c0002t0001g0139
a0028c0050t0008g0233
a0046c0044t0001g0100
 4 HG00544.hp1
HG02965.hp1
NA18969.hp2
others(1): Show 
HG00544.hp1
HG02965.hp1
NA18969.hp2
NA18975.hp1
 intron_variant MODIFIER c.21959-2723_21959-2
others(29): Show 
c.21959-2723_21959-2722insCACACACATATATACACTTAGTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477075
chr1:39477075 A
A
 ATACACAC
others(18): Show 
ATACACACACATATATACACTTAGTG
 3 a0001c0001t0006g0066
a0002c0003t0001g0187
a0012c0029t0001g0165
a0001c0001t0006g0066
a0002c0003t0001g0187
a0012c0029t0001g0165
 3 NA18988.hp2
NA19240.hp1
NA21309.hp2
NA18988.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.21959-2721_21959-2
others(31): Show 
c.21959-2721_21959-2720insCACACACATATATACACTTAGTGT
A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477075
chr1:39477075 A
A
 ATATATAC
others(24): Show 
ATATATACACACACACATATATACACTTAGTG
 1 a0024c0076t0003g0222
a0024c0076t0003g0222
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.21959-2717_21959-2
others(37): Show 
c.21959-2717_21959-2716insCACACACACATATATACACTTAGT
GTATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477075
chr1:39477075 A
A
 ATATATAC
others(22): Show 
ATATATACACACACATATATACACTTAGTG
 4 a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
others(1): Show 
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
 4 HG01109.hp2
HG03209.hp2
HG03453.hp1
others(1): Show 
HG01109.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp1
 intron_variant MODIFIER c.21959-2717_21959-2
others(35): Show 
c.21959-2717_21959-2716insCACACACATATATACACTTAGTGT
ATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477075
chr1:39477075 A
A
 G
G
 43 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0023
others(40): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0099
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0002c0003t0001g0186
a0003c0002t0001g0143
a0004c0006t0001g0049
a0004c0006t0001g0069
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0016c0026t0001g0173
a0017c0020t0001g0086
a0039c0042t0001g0021
a0040c0051t0001g0205
a0051c0045t0012g0022
a0053c0077t0001g0020
 43 HG00609.hp1
HG00733.hp1
HG00735.hp1
others(40): Show 
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01361.hp1
HG01433.hp1
HG01981.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02145.hp1
HG02165.hp1
HG02486.hp2
HG02523.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG04204.hp2
NA18942.hp2
NA18953.hp2
NA18960.hp1
NA18962.hp1
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18981.hp2
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA20300.hp2
 intron_variant MODIFIER c.21959-2723A>G
c.21959-2723A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477075
chr1:39477076 TATATATA
others(9): Show 
TATATATATATATATAC
 T
T
 7 a0001c0001t0002g0037
a0002c0003t0002g0127
a0002c0003t0002g0180
others(4): Show 
a0001c0001t0002g0037
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
 7 HG01167.hp2
HG01346.hp2
NA18986.hp1
others(4): Show 
HG01167.hp2
HG01346.hp2
NA18986.hp1
NA18999.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
 intron_variant MODIFIER c.21959-2720_21959-2
others(22): Show 
c.21959-2720_21959-2705delTATATATATATATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477076
chr1:39477076 TATATATA
others(11): Show 
TATATATATATATATACAC
 T
T
 4 a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
others(1): Show 
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0204
 4 HG02486.hp1
HG02717.hp1
HG02922.hp2
others(1): Show 
HG02486.hp1
HG02717.hp1
HG02922.hp2
NA20129.hp1
 intron_variant MODIFIER c.21959-2720_21959-2
others(24): Show 
c.21959-2720_21959-2703delTATATATATATATACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477076
chr1:39477077 A
A
 ACACACAC
others(16): Show 
ACACACACATATATACACTTAGTG
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.21959-2721_21959-2
others(29): Show 
c.21959-2721_21959-2720insCACACACATATATACACTTAGTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477077
chr1:39477077 A
A
 ACACTTAG
others(2): Show 
ACACTTAGTG
 9 a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0042
others(6): Show 
a0001c0001t0001g0027
a0001c0001t0001g0040
a0001c0001t0001g0042
a0001c0001t0001g0070
a0001c0001t0001g0096
a0001c0001t0001g0105
a0001c0012t0001g0059
a0010c0016t0004g0140
a0025c0030t0001g0067
 9 HG00558.hp2
HG01081.hp2
HG01952.hp2
others(6): Show 
HG00558.hp2
HG01081.hp2
HG01952.hp2
HG02004.hp2
HG02040.hp1
HG02273.hp1
HG02280.hp2
NA18954.hp1
NA19085.hp1
 intron_variant MODIFIER c.21959-2721_21959-2
others(15): Show 
c.21959-2721_21959-2720insCACTTAGTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477077
chr1:39477077 A
A
 ATATACAC
others(20): Show 
ATATACACACACATATATACACTTAGTG
 5 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(2): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
 5 HG02976.hp1
HG03098.hp2
HG03471.hp1
others(2): Show 
HG02976.hp1
HG03098.hp2
HG03471.hp1
HG03579.hp2
NA18906.hp1
 intron_variant MODIFIER c.21959-2717_21959-2
others(33): Show 
c.21959-2717_21959-2716insCACACACATATATACACTTAGTGT
ATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477077
chr1:39477077 A
A
 G
G
 3 a0012c0029t0001g0212
a0023c0074t0001g0206
a0029c0061t0003g0232
a0012c0029t0001g0212
a0023c0074t0001g0206
a0029c0061t0003g0232
 3 HG01884.hp2
HG03195.hp2
HG06807.hp2
HG01884.hp2
HG03195.hp2
HG06807.hp2
 intron_variant MODIFIER c.21959-2721A>G
c.21959-2721A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477077
chr1:39477078 TATATATA
others(7): Show 
TATATATATATATAC
 T
T
 2 a0009c0014t0010g0225
a0027c0063t0002g0229
a0009c0014t0010g0225
a0027c0063t0002g0229
 2 HG03041.hp1
NA19002.hp2
HG03041.hp1
NA19002.hp2
 intron_variant MODIFIER c.21959-2718_21959-2
others(20): Show 
c.21959-2718_21959-2705delTATATATATATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477078
chr1:39477078 TATATATA
others(9): Show 
TATATATATATATACAC
 T
T
 2 a0002c0004t0001g0009
a0009c0014t0001g0190
a0002c0004t0001g0009
a0009c0014t0001g0190
 2 HG02886.hp2
HG03130.hp2
HG02886.hp2
HG03130.hp2
 intron_variant MODIFIER c.21959-2718_21959-2
others(22): Show 
c.21959-2718_21959-2703delTATATATATATACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477078
chr1:39477079 A
A
 ACACTTAG
others(4): Show 
ACACTTAGTGTG
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.21959-2719_21959-2
others(17): Show 
c.21959-2719_21959-2718insCACTTAGTGTG
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477079
chr1:39477080 TATATATA
others(5): Show 
TATATATATATAC
 T
T
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.21959-2716_21959-2
others(18): Show 
c.21959-2716_21959-2705delTATATATATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477080
chr1:39477082 TATATATA
others(5): Show 
TATATATATACAC
 T
T
 1 a0002c0004t0001g0196
a0002c0004t0001g0196
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.21959-2714_21959-2
others(18): Show 
c.21959-2714_21959-2703delTATATATACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477082
chr1:39477084 TATATATA
others(3): Show 
TATATATACAC
 T
T
 1 a0005c0008t0005g0163
a0005c0008t0005g0163
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.21959-2712_21959-2
others(16): Show 
c.21959-2712_21959-2703delTATATACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477084
chr1:39477088 T
T
 C
C
 12 a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0125
others(9): Show 
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0135
a0003c0002t0001g0142
a0006c0005t0001g0235
a0006c0005t0001g0242
a0015c0022t0001g0005
a0015c0022t0001g0007
a0036c0048t0001g0008
a0052c0046t0001g0068
 12 HG01069.hp1
HG02015.hp1
HG02145.hp2
others(9): Show 
HG01069.hp1
HG02015.hp1
HG02145.hp2
HG02572.hp1
HG02572.hp2
HG03239.hp2
HG03471.hp2
NA18522.hp2
NA18960.hp2
NA19011.hp1
NA19030.hp1
NA19084.hp1
 intron_variant MODIFIER c.21959-2710T>C
c.21959-2710T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477088
chr1:39477090 T
T
 C
C
 37 a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
others(34): Show 
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0142
a0003c0002t0001g0148
a0003c0002t0001g0152
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0066t0001g0117
a0006c0005t0001g0235
a0006c0005t0001g0242
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0036c0048t0001g0008
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0052c0046t0001g0068
 37 HG00280.hp1
HG00639.hp1
HG00642.hp2
others(34): Show 
HG00280.hp1
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG01069.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02683.hp1
HG02896.hp1
HG02897.hp1
HG03239.hp2
HG03471.hp2
HG03540.hp2
HG03927.hp2
NA18522.hp2
NA18942.hp1
NA18943.hp2
NA18960.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA19000.hp2
NA19011.hp1
NA19030.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
 intron_variant MODIFIER c.21959-2708T>C
c.21959-2708T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477090
chr1:39477090 T
T
 TATAC
TATAC
 3 a0002c0039t0001g0073
a0003c0002t0001g0147
a0003c0002t0001g0161
a0002c0039t0001g0073
a0003c0002t0001g0147
a0003c0002t0001g0161
 3 HG02738.hp1
NA18954.hp2
NA20805.hp1
HG02738.hp1
NA18954.hp2
NA20805.hp1
 intron_variant MODIFIER c.21959-2707_21959-2
others(10): Show 
c.21959-2707_21959-2706insTACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477090
chr1:39477092 C
C
 T
T
 109 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(106): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0004t0001g0202
a0002c0004t0011g0194
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0170
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0028c0050t0008g0233
a0029c0061t0003g0232
a0032c0043t0001g0064
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 109 HG00140.hp1
HG00280.hp2
HG00438.hp1
others(106): Show 
HG00140.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2706C>T
c.21959-2706C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477092
chr1:39477094 C
C
 CACACATA
others(32): Show 
CACACATATATACACTTAGTGTATATATATATATATATAT
 1 a0004c0011t0003g0171
a0004c0011t0003g0171
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.21959-2699_21959-2
others(45): Show 
c.21959-2699_21959-2698insTATATACACTTAGTGTATATATAT
ATATATATATACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477094
chr1:39477094 C
C
 CATACACA
others(38): Show 
CATACACACACATATATACACTTAGTGTATATATATATATATATAT
 1 a0004c0011t0003g0170
a0004c0011t0003g0170
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.21959-2703_21959-2
others(51): Show 
c.21959-2703_21959-2702insTACACACACATATATACACTTAGT
GTATATATATATATATATATA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477094
chr1:39477094 C
C
 T
T
 107 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(104): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0004t0001g0202
a0002c0004t0011g0194
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0028c0050t0008g0233
a0029c0061t0003g0232
a0032c0043t0001g0064
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 107 HG00140.hp1
HG00280.hp2
HG00438.hp1
others(104): Show 
HG00140.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2704C>T
c.21959-2704C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477094
chr1:39477118 GTA
GTA
 G
G
 4 a0003c0002t0001g0108
a0003c0002t0001g0109
a0014c0021t0001g0226
others(1): Show 
a0003c0002t0001g0108
a0003c0002t0001g0109
a0014c0021t0001g0226
a0014c0021t0001g0227
 4 HG02602.hp1
HG02896.hp1
HG02897.hp1
others(1): Show 
HG02602.hp1
HG02896.hp1
HG02897.hp1
HG03927.hp2
 intron_variant MODIFIER c.21959-2663_21959-2
others(8): Show 
c.21959-2663_21959-2662delTA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477118
chr1:39477129 T
T
 TACACACA
others(3): Show 
TACACACACAC
 4 a0001c0001t0001g0023
a0001c0017t0001g0028
a0002c0003t0002g0188
others(1): Show 
a0001c0001t0001g0023
a0001c0017t0001g0028
a0002c0003t0002g0188
a0003c0002t0002g0137
 4 NA18971.hp1
NA18990.hp2
NA19010.hp2
others(1): Show 
NA18971.hp1
NA18990.hp2
NA19010.hp2
NA20805.hp2
 intron_variant MODIFIER c.21959-2668_21959-2
others(16): Show 
c.21959-2668_21959-2667insCACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477129
chr1:39477131 T
T
 C
C
 8 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0012t0001g0060
others(5): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0012t0001g0060
a0001c0017t0001g0028
a0002c0003t0002g0188
a0003c0002t0002g0137
a0004c0006t0001g0062
a0030c0060t0001g0241
 8 HG00438.hp1
HG01109.hp1
HG02922.hp1
others(5): Show 
HG00438.hp1
HG01109.hp1
HG02922.hp1
HG03704.hp1
NA18971.hp1
NA18990.hp2
NA19010.hp2
NA20805.hp2
 intron_variant MODIFIER c.21959-2667T>C
c.21959-2667T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477131
chr1:39477131 T
T
 TAC
TAC
 3 a0001c0034t0001g0090
a0003c0002t0001g0159
a0009c0014t0010g0225
a0001c0034t0001g0090
a0003c0002t0001g0159
a0009c0014t0010g0225
 3 HG03041.hp1
HG03195.hp1
NA18980.hp2
HG03041.hp1
HG03195.hp1
NA18980.hp2
 intron_variant MODIFIER c.21959-2666_21959-2
others(8): Show 
c.21959-2666_21959-2665insCA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477131
chr1:39477131 T
T
 TACAC
TACAC
 7 a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
others(4): Show 
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0003c0071t0001g0120
a0004c0006t0001g0069
a0043c0057t0001g0168
 7 HG01243.hp1
HG02273.hp2
HG02486.hp1
others(4): Show 
HG01243.hp1
HG02273.hp2
HG02486.hp1
HG02886.hp2
HG02922.hp2
HG03209.hp1
NA20129.hp1
 intron_variant MODIFIER c.21959-2666_21959-2
others(10): Show 
c.21959-2666_21959-2665insCACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477131
chr1:39477131 T
T
 TACACAC
TACACAC
 6 a0001c0001t0001g0015
a0001c0001t0001g0048
a0001c0001t0002g0033
others(3): Show 
a0001c0001t0001g0015
a0001c0001t0001g0048
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0088
a0041c0033t0001g0055
 6 HG00558.hp1
HG00597.hp2
HG01106.hp2
others(3): Show 
HG00558.hp1
HG00597.hp2
HG01106.hp2
HG01981.hp1
HG04204.hp2
NA18953.hp1
 intron_variant MODIFIER c.21959-2666_21959-2
others(12): Show 
c.21959-2666_21959-2665insCACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477131
chr1:39477131 T
T
 TACACACA
others(1): Show 
TACACACAC
 32 a0001c0001t0001g0018
a0001c0001t0001g0031
a0001c0001t0001g0038
others(29): Show 
a0001c0001t0001g0018
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0089
a0001c0001t0001g0094
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0185
a0002c0003t0002g0231
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0154
a0004c0006t0001g0049
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0240
a0010c0016t0004g0145
a0016c0026t0001g0174
a0031c0059t0002g0177
a0034c0056t0001g0176
a0038c0054t0002g0178
a0039c0042t0001g0021
a0046c0044t0001g0100
a0049c0067t0001g0116
a0050c0069t0001g0123
 32 HG00438.hp2
HG00741.hp1
HG01167.hp1
others(29): Show 
HG00438.hp2
HG00741.hp1
HG01167.hp1
HG01167.hp2
HG01261.hp2
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02273.hp1
HG02486.hp2
HG02523.hp2
HG02809.hp1
HG03490.hp1
HG03490.hp2
HG03516.hp2
NA18962.hp1
NA18966.hp1
NA18969.hp1
NA18975.hp1
NA18981.hp1
NA18983.hp1
NA18986.hp1
NA18986.hp2
NA18988.hp1
NA18990.hp1
NA18999.hp2
NA19002.hp1
NA19091.hp1
NA20300.hp2
 intron_variant MODIFIER c.21959-2666_21959-2
others(14): Show 
c.21959-2666_21959-2665insCACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477131
chr1:39477131 T
T
 TACACACA
others(3): Show 
TACACACACAC
 90 a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0025
others(87): Show 
a0001c0001t0001g0017
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0037
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0230
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0124
a0003c0002t0001g0139
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0006c0005t0001g0239
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0027c0063t0002g0229
a0032c0043t0001g0064
a0035c0055t0002g0179
a0040c0051t0001g0205
a0044c0032t0001g0102
a0051c0045t0012g0022
a0053c0077t0001g0020
 90 HG00140.hp1
HG00280.hp2
HG00544.hp1
others(87): Show 
HG00140.hp1
HG00280.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01261.hp1
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02280.hp2
HG02523.hp1
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03239.hp1
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03704.hp2
HG03927.hp1
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp2
NA18969.hp2
NA18973.hp1
NA18974.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19010.hp1
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp2
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2666_21959-2
others(16): Show 
c.21959-2666_21959-2665insCACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477131
chr1:39477131 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 1 a0002c0003t0002g0228
a0002c0003t0002g0228
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.21959-2666_21959-2
others(18): Show 
c.21959-2666_21959-2665insCACACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477131
chr1:39477131 TATATAC
TATATAC
 T
T
 3 a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
 3 HG00642.hp2
HG00735.hp2
NA20805.hp1
HG00642.hp2
HG00735.hp2
NA20805.hp1
 intron_variant MODIFIER c.21959-2665_21959-2
others(12): Show 
c.21959-2665_21959-2660delTATACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477131
chr1:39477133 T
T
 C
C
 178 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(175): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0009c0014t0010g0225
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0053c0077t0001g0020
 178 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(175): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp1
HG02615.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02922.hp1
HG02922.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2665T>C
c.21959-2665T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477133
chr1:39477133 T
T
 TAC
TAC
 10 a0001c0062t0001g0006
a0002c0004t0001g0199
a0002c0025t0001g0001
others(7): Show 
a0001c0062t0001g0006
a0002c0004t0001g0199
a0002c0025t0001g0001
a0002c0025t0001g0191
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0009c0014t0009g0192
a0009c0047t0001g0189
a0033c0053t0001g0200
 10 HG01069.hp2
HG02145.hp2
HG02818.hp1
others(7): Show 
HG01069.hp2
HG02145.hp2
HG02818.hp1
HG02965.hp2
HG03471.hp2
HG03540.hp1
HG03579.hp1
NA19030.hp2
NA19043.hp1
NA20300.hp1
 intron_variant MODIFIER c.21959-2664_21959-2
others(8): Show 
c.21959-2664_21959-2663insCA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477133
chr1:39477133 T
T
 TACAC
TACAC
 12 a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
others(9): Show 
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0024t0001g0198
a0002c0024t0001g0203
a0006c0005t0001g0235
a0009c0014t0001g0190
a0052c0046t0001g0068
 12 HG00639.hp2
HG01069.hp1
HG01884.hp1
others(9): Show 
HG00639.hp2
HG01069.hp1
HG01884.hp1
HG02572.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02896.hp2
HG03130.hp2
HG03486.hp2
NA18906.hp2
 intron_variant MODIFIER c.21959-2664_21959-2
others(10): Show 
c.21959-2664_21959-2663insCACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477133
chr1:39477133 T
T
 TACACACA
others(3): Show 
TACACACACAC
 1 a0001c0001t0006g0066
a0001c0001t0006g0066
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.21959-2664_21959-2
others(16): Show 
c.21959-2664_21959-2663insCACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477133
chr1:39477133 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 1 a0003c0002t0001g0143
a0003c0002t0001g0143
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.21959-2664_21959-2
others(18): Show 
c.21959-2664_21959-2663insCACACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477133
chr1:39477135 T
T
 C
C
 209 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(206): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0006c0005t0001g0235
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0027c0063t0002g0229
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0052c0046t0001g0068
a0053c0077t0001g0020
 209 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(206): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2663T>C
c.21959-2663T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477135
chr1:39477135 T
T
 TACAC
TACAC
 4 a0006c0005t0001g0243
a0015c0022t0001g0005
a0015c0022t0001g0007
others(1): Show 
a0006c0005t0001g0243
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
 4 HG02572.hp2
HG02602.hp2
NA18522.hp2
others(1): Show 
HG02572.hp2
HG02602.hp2
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.21959-2647_21959-2
others(10): Show 
c.21959-2647_21959-2644dupCACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TACACAC
TACACAC
 4 a0004c0019t0001g0050
a0004c0019t0001g0052
a0006c0005t0001g0237
others(1): Show 
a0004c0019t0001g0050
a0004c0019t0001g0052
a0006c0005t0001g0237
a0006c0005t0001g0242
 4 HG01106.hp1
HG02683.hp2
HG03239.hp2
others(1): Show 
HG01106.hp1
HG02683.hp2
HG03239.hp2
HG04115.hp2
 intron_variant MODIFIER c.21959-2649_21959-2
others(12): Show 
c.21959-2649_21959-2644dupCACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TACACACA
others(3): Show 
TACACACACAC
 4 a0004c0011t0003g0170
a0004c0011t0003g0171
a0008c0010t0003g0213
others(1): Show 
a0004c0011t0003g0170
a0004c0011t0003g0171
a0008c0010t0003g0213
a0008c0010t0003g0219
 4 HG01109.hp2
HG02109.hp2
HG02280.hp1
others(1): Show 
HG01109.hp2
HG02109.hp2
HG02280.hp1
HG03516.hp1
 intron_variant MODIFIER c.21959-2653_21959-2
others(16): Show 
c.21959-2653_21959-2644dupCACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 9 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(6): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0220
a0008c0010t0003g0221
a0023c0074t0001g0206
a0024c0076t0003g0222
 9 HG01884.hp2
HG02976.hp1
HG03098.hp2
others(6): Show 
HG01884.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp2
NA18906.hp1
NA21309.hp1
 intron_variant MODIFIER c.21959-2655_21959-2
others(18): Show 
c.21959-2655_21959-2644dupCACACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TACACACA
others(7): Show 
TACACACACACACAC
 2 a0012c0029t0001g0165
a0029c0061t0003g0232
a0012c0029t0001g0165
a0029c0061t0003g0232
 2 HG03195.hp2
NA19240.hp1
HG03195.hp2
NA19240.hp1
 intron_variant MODIFIER c.21959-2657_21959-2
others(20): Show 
c.21959-2657_21959-2644dupCACACACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TACACACA
others(48): Show 
TACACACACATATATACACTTAGTGTATATATATATATATATACACACAC
ACACAC
 1 a0012c0029t0001g0212
a0012c0029t0001g0212
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.21959-2654_21959-2
others(61): Show 
c.21959-2654_21959-2653insTATATACACTTAGTGTATATATAT
ATATATATACACACACACACACACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TATACAC
TATACAC
 4 a0006c0005t0001g0236
a0013c0023t0001g0003
a0013c0023t0001g0004
others(1): Show 
a0006c0005t0001g0236
a0013c0023t0001g0003
a0013c0023t0001g0004
a0036c0048t0001g0008
 4 HG02109.hp1
HG03453.hp2
HG04204.hp1
others(1): Show 
HG02109.hp1
HG03453.hp2
HG04204.hp1
NA19030.hp1
 intron_variant MODIFIER c.21959-2662_21959-2
others(12): Show 
c.21959-2662_21959-2661insTACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TATACACA
others(46): Show 
TATACACACACATATATACACTTAGTGTATATATATATATATATACACAC
ACAC
 1 a0004c0011t0003g0169
a0004c0011t0003g0169
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.21959-2662_21959-2
others(59): Show 
c.21959-2662_21959-2661insTACACACACATATATACACTTAGT
GTATATATATATATATATACACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477135 T
T
 TATATACA
others(48): Show 
TATATACACACACATATATACACTTAGTGTATATATATATATATATACAC
ACACAC
 1 a0004c0011t0003g0167
a0004c0011t0003g0167
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.21959-2662_21959-2
others(61): Show 
c.21959-2662_21959-2661insTATACACACACATATATACACTTA
GTGTATATATATATATATATACACACACACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477135
chr1:39477155 G
G
 C
C
 8 a0002c0025t0001g0001
a0002c0025t0001g0191
a0013c0023t0001g0003
others(5): Show 
a0002c0025t0001g0001
a0002c0025t0001g0191
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0026c0049t0001g0002
a0036c0048t0001g0008
 8 HG02109.hp1
HG02145.hp2
HG02572.hp2
others(5): Show 
HG02109.hp1
HG02145.hp2
HG02572.hp2
HG03453.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
NA20129.hp2
 intron_variant MODIFIER c.21959-2643G>C
c.21959-2643G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477155
chr1:39477250 C
C
 T
T
 2 a0006c0005t0001g0235
a0052c0046t0001g0068
a0006c0005t0001g0235
a0052c0046t0001g0068
 2 HG01069.hp1
HG02572.hp1
HG01069.hp1
HG02572.hp1
 intron_variant MODIFIER c.21959-2548C>T
c.21959-2548C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477250
chr1:39477731 A
A
 G
G
 1 a0016c0026t0001g0174
a0016c0026t0001g0174
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.21959-2067A>G
c.21959-2067A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477731
chr1:39477743 A
A
 G
G
 5 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(2): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0030c0060t0001g0241
 5 HG01069.hp2
HG02922.hp1
HG03041.hp1
others(2): Show 
HG01069.hp2
HG02922.hp1
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.21959-2055A>G
c.21959-2055A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477743
chr1:39477781 A
A
 C
C
 235 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(232): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0030c0060t0001g0241
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0053c0077t0001g0020
 235 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(232): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-2017A>C
c.21959-2017A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39477781
chr1:39477959 C
C
 CT
CT
 12 a0001c0001t0001g0043
a0001c0037t0001g0095
a0002c0015t0002g0112
others(9): Show 
a0001c0001t0001g0043
a0001c0037t0001g0095
a0002c0015t0002g0112
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0147
a0042c0052t0001g0201
a0043c0057t0001g0168
a0051c0045t0012g0022
 12 HG00642.hp2
HG00733.hp1
HG00735.hp2
others(9): Show 
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG01243.hp1
HG02257.hp1
HG02602.hp1
HG02615.hp2
HG02738.hp1
HG03927.hp2
NA18974.hp2
NA18987.hp1
NA20805.hp1
 intron_variant MODIFIER c.21959-1825dupT
c.21959-1825dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477959
chr1:39477999 A
A
 AT
AT
 77 a0001c0001t0001g0024
a0001c0001t0001g0031
a0001c0001t0001g0039
others(74): Show 
a0001c0001t0001g0024
a0001c0001t0001g0031
a0001c0001t0001g0039
a0001c0001t0001g0042
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0001g0080
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0246
a0002c0004t0001g0197
a0002c0004t0001g0204
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0007c0007t0002g0054
a0007c0007t0002g0057
a0016c0026t0001g0174
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0027c0063t0002g0229
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0053c0077t0001g0020
 77 HG00140.hp2
HG00544.hp2
HG00558.hp1
others(74): Show 
HG00140.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01099.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp2
HG02004.hp1
HG02015.hp1
HG02071.hp1
HG02074.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02976.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp2
HG03927.hp1
NA18906.hp1
NA18939.hp2
NA18943.hp2
NA18953.hp1
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18986.hp2
NA18987.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp2
NA19086.hp1
NA19091.hp1
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.21959-1778dupT
c.21959-1778dupT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477999
chr1:39477999 A
A
 ATT
ATT
 12 a0001c0001t0001g0015
a0001c0001t0002g0034
a0002c0003t0002g0231
others(9): Show 
a0001c0001t0001g0015
a0001c0001t0002g0034
a0002c0003t0002g0231
a0003c0002t0001g0109
a0003c0002t0001g0121
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0148
a0003c0002t0001g0149
a0005c0009t0003g0218
a0015c0022t0001g0005
a0028c0050t0008g0233
 12 HG00438.hp2
HG00597.hp2
HG01952.hp1
others(9): Show 
HG00438.hp2
HG00597.hp2
HG01952.hp1
HG01981.hp2
HG02965.hp1
HG03098.hp2
HG03927.hp2
HG04204.hp2
NA18522.hp2
NA18966.hp2
NA18975.hp2
NA19084.hp1
 intron_variant MODIFIER c.21959-1779_21959-1
others(8): Show 
c.21959-1779_21959-1778dupTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477999
chr1:39477999 A
A
 ATTT
ATTT
 8 a0002c0025t0001g0001
a0003c0002t0002g0137
a0012c0029t0001g0165
others(5): Show 
a0002c0025t0001g0001
a0003c0002t0002g0137
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0007
a0026c0049t0001g0002
 8 HG02109.hp1
HG02572.hp2
HG03453.hp2
others(5): Show 
HG02109.hp1
HG02572.hp2
HG03453.hp2
HG03471.hp2
HG06807.hp2
NA18990.hp2
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.21959-1780_21959-1
others(9): Show 
c.21959-1780_21959-1778dupTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477999
chr1:39477999 AT
AT
 A
A
 5 a0001c0001t0001g0105
a0005c0008t0005g0163
a0006c0005t0001g0239
others(2): Show 
a0001c0001t0001g0105
a0005c0008t0005g0163
a0006c0005t0001g0239
a0014c0021t0001g0227
a0037c0058t0001g0245
 5 HG01243.hp2
HG02040.hp1
HG02897.hp1
others(2): Show 
HG01243.hp2
HG02040.hp1
HG02897.hp1
HG02976.hp2
NA19043.hp1
 intron_variant MODIFIER c.21959-1778delT
c.21959-1778delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 INFO_REALIGN_3_PRIME chr1 39477999
chr1:39478119 C
C
 T
T
 16 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(13): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
 16 HG01109.hp2
HG02055.hp2
HG02109.hp2
others(13): Show 
HG01109.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA21309.hp1
 intron_variant MODIFIER c.21959-1679C>T
c.21959-1679C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478119
chr1:39478225 A
A
 T
T
 1 a0028c0050t0008g0233
a0028c0050t0008g0233
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.21959-1573A>T
c.21959-1573A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478225
chr1:39478440 T
T
 G
G
 1 a0007c0007t0002g0057
a0007c0007t0002g0057
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.21959-1358T>G
c.21959-1358T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478440
chr1:39478508 A
A
 G
G
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0003c0002t0001g0155
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 92 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-1290A>G
c.21959-1290A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478508
chr1:39478561 A
A
 G
G
 1 a0003c0002t0001g0124
a0003c0002t0001g0124
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.21959-1237A>G
c.21959-1237A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478561
chr1:39478573 C
C
 T
T
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.21959-1225C>T
c.21959-1225C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478573
chr1:39478577 T
T
 C
C
 45 a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
others(42): Show 
a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 45 HG00140.hp2
HG00639.hp1
HG00642.hp2
others(42): Show 
HG00140.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.21959-1221T>C
c.21959-1221T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478577
chr1:39478719 G
G
 A
A
 234 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(231): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0053c0077t0001g0020
 234 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(231): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-1079G>A
c.21959-1079G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478719
chr1:39478816 T
T
 G
G
 35 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
others(32): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0002g0137
a0007c0007t0002g0054
a0007c0007t0002g0057
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
 35 HG00438.hp2
HG00544.hp2
HG00558.hp1
others(32): Show 
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19084.hp2
NA19086.hp1
NA19088.hp2
NA20805.hp2
 intron_variant MODIFIER c.21959-982T>G
c.21959-982T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478816
chr1:39478855 A
A
 G
G
 1 a0002c0003t0002g0127
a0002c0003t0002g0127
 1 NA19086.hp1
NA19086.hp1
 intron_variant MODIFIER c.21959-943A>G
c.21959-943A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39478855
chr1:39479096 C
C
 T
T
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0003c0002t0001g0155
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 92 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-702C>T
c.21959-702C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39479096
chr1:39479247 T
T
 G
G
 3 a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
a0002c0039t0001g0073
a0003c0002t0001g0110
a0003c0002t0001g0111
 3 HG00642.hp2
HG00735.hp2
NA20805.hp1
HG00642.hp2
HG00735.hp2
NA20805.hp1
 intron_variant MODIFIER c.21959-551T>G
c.21959-551T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39479247
chr1:39479505 C
C
 T
T
 9 a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
others(6): Show 
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
 9 HG01109.hp2
HG02976.hp1
HG03098.hp2
others(6): Show 
HG01109.hp2
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
NA18906.hp1
 intron_variant MODIFIER c.21959-293C>T
c.21959-293C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39479505
chr1:39479625 C
C
 T
T
 93 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(90): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0003c0002t0001g0155
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 93 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(90): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.21959-173C>T
c.21959-173C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 97/100 chr1 39479625
chr1:39480077 T
T
 TAGCCTCT
others(33): Show 
TAGCCTCTGAAAGACTCCAGTGAGGAGAAGAAATAAAAATG
 45 a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
others(42): Show 
a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 45 HG00140.hp2
HG00639.hp1
HG00642.hp2
others(42): Show 
HG00140.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG03490.hp1
HG03540.hp2
HG03927.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19091.hp1
NA20805.hp1
 intron_variant MODIFIER c.22170+70_22170+109
others(43): Show 
c.22170+70_22170+109dupGCCTCTGAAAGACTCCAGTGAGGAGAA
GAAATAAAAATGA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 98/100 INFO_REALIGN_3_PRIME chr1 39480077
chr1:39480380 G
G
 A
A
 1 a0007c0007t0001g0101
a0007c0007t0001g0101
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.22170+371G>A
c.22170+371G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 98/100 chr1 39480380
chr1:39480644 TA
TA
 T
T
 8 a0003c0002t0001g0125
a0005c0008t0001g0207
a0005c0008t0001g0210
others(5): Show 
a0003c0002t0001g0125
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0014c0021t0001g0226
a0014c0021t0001g0227
a0020c0075t0001g0211
a0022c0072t0001g0209
 8 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(5): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
NA18960.hp2
 intron_variant MODIFIER c.22171-262delA
c.22171-262delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 98/100 INFO_REALIGN_3_PRIME chr1 39480644
chr1:39480645 A
A
 T
T
 1 a0001c0001t0002g0032
a0001c0001t0002g0032
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.22171-275A>T
c.22171-275A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 98/100 chr1 39480645
chr1:39480658 A
A
 T
T
 233 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(230): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0053
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0004t0001g0009
a0002c0004t0001g0010
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0139
a0003c0002t0001g0142
a0003c0002t0001g0143
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0014c0021t0001g0227
a0015c0022t0001g0005
a0015c0022t0001g0007
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0020c0075t0001g0211
a0022c0072t0001g0209
a0023c0074t0001g0206
a0024c0076t0003g0222
a0025c0030t0001g0067
a0026c0049t0001g0002
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0035c0055t0002g0179
a0036c0048t0001g0008
a0037c0058t0001g0245
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
a0044c0032t0001g0102
a0045c0070t0001g0144
a0046c0044t0001g0100
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
a0053c0077t0001g0020
 233 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(230): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03927.hp2
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18974.hp1
NA18974.hp2
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.22171-262A>T
c.22171-262A>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 98/100 chr1 39480658
chr1:39481586 G
G
 C
C
 1 a0034c0056t0001g0176
a0034c0056t0001g0176
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.22281+556G>C
c.22281+556G>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39481586
chr1:39481690 T
T
 G
G
 1 a0002c0015t0002g0112
a0002c0015t0002g0112
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.22281+660T>G
c.22281+660T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39481690
chr1:39481692 G
G
 A
A
 1 a0002c0015t0002g0112
a0002c0015t0002g0112
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.22281+662G>A
c.22281+662G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39481692
chr1:39481801 G
G
 A
A
 13 a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
others(10): Show 
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
 13 HG01109.hp2
HG02055.hp2
HG02109.hp2
others(10): Show 
HG01109.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp1
HG03579.hp2
HG06807.hp1
NA18906.hp1
 intron_variant MODIFIER c.22281+771G>A
c.22281+771G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39481801
chr1:39482078 C
C
 A
A
 1 a0001c0040t0001g0014
a0001c0040t0001g0014
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.22281+1048C>A
c.22281+1048C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39482078
chr1:39482219 G
G
 T
T
 3 a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
 3 HG02109.hp2
HG02280.hp1
HG06807.hp1
HG02109.hp2
HG02280.hp1
HG06807.hp1
 intron_variant MODIFIER c.22281+1189G>T
c.22281+1189G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39482219
chr1:39482220 T
T
 G
G
 11 a0002c0025t0001g0001
a0002c0025t0001g0191
a0012c0029t0001g0165
others(8): Show 
a0002c0025t0001g0001
a0002c0025t0001g0191
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0023c0074t0001g0206
a0026c0049t0001g0002
a0036c0048t0001g0008
 11 HG01884.hp2
HG02109.hp1
HG02145.hp2
others(8): Show 
HG01884.hp2
HG02109.hp1
HG02145.hp2
HG02572.hp2
HG03453.hp2
HG03471.hp2
HG06807.hp2
NA18522.hp2
NA19030.hp1
NA19240.hp1
NA20129.hp2
 intron_variant MODIFIER c.22281+1190T>G
c.22281+1190T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39482220
chr1:39482510 TTTTG
TTTTG
 T
T
 57 a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0025t0001g0001
others(54): Show 
a0001c0001t0001g0053
a0001c0001t0001g0065
a0002c0025t0001g0001
a0002c0025t0001g0191
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0014c0021t0001g0226
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0023c0074t0001g0206
a0026c0049t0001g0002
a0036c0048t0001g0008
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 57 HG00140.hp2
HG00639.hp1
HG00642.hp2
others(54): Show 
HG00140.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp2
HG02145.hp2
HG02273.hp2
HG02572.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02896.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp1
HG03540.hp2
HG03927.hp2
HG06807.hp2
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19030.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.22281+1500_22281+1
others(10): Show 
c.22281+1500_22281+1503delGTTT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39482510
chr1:39482552 A
A
 G
G
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0003c0002t0001g0155
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 92 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.22281+1522A>G
c.22281+1522A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39482552
chr1:39482667 C
C
 T
T
 40 a0001c0001t0001g0053
a0001c0001t0001g0065
a0003c0002t0001g0114
others(37): Show 
a0001c0001t0001g0053
a0001c0001t0001g0065
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0066t0001g0117
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 40 HG00140.hp2
HG00639.hp1
HG00733.hp2
others(37): Show 
HG00140.hp2
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01099.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02129.hp1
HG02135.hp2
HG02273.hp2
HG02683.hp1
HG02738.hp1
HG03490.hp1
HG03540.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18995.hp2
NA18999.hp2
NA19000.hp2
NA19011.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp2
NA19091.hp1
 intron_variant MODIFIER c.22281+1637C>T
c.22281+1637C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39482667
chr1:39482791 C
C
 CA
CA
 24 a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0039
others(21): Show 
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0048
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0103
a0001c0001t0001g0107
a0001c0017t0001g0029
a0002c0004t0001g0196
a0002c0004t0001g0202
a0002c0004t0001g0223
a0002c0004t0011g0194
a0003c0002t0001g0143
a0003c0002t0001g0154
a0006c0005t0001g0234
a0017c0020t0001g0085
a0017c0020t0001g0086
a0041c0033t0001g0055
 24 HG00438.hp1
HG01106.hp2
HG01346.hp1
others(21): Show 
HG00438.hp1
HG01106.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02071.hp2
HG02647.hp1
HG02647.hp2
HG02738.hp2
HG02809.hp1
HG02895.hp2
HG02897.hp2
HG03486.hp2
HG03927.hp1
NA18969.hp2
NA18980.hp1
NA18990.hp1
NA19000.hp1
NA19010.hp2
NA19086.hp2
NA19088.hp1
 intron_variant MODIFIER c.22281+1785dupA
c.22281+1785dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39482791
chr1:39482791 CA
CA
 C
C
 7 a0004c0019t0001g0050
a0004c0019t0001g0052
a0006c0005t0001g0236
others(4): Show 
a0004c0019t0001g0050
a0004c0019t0001g0052
a0006c0005t0001g0236
a0006c0005t0001g0237
a0006c0005t0001g0242
a0006c0005t0001g0244
a0030c0060t0001g0241
 7 HG01106.hp1
HG02683.hp2
HG02922.hp1
others(4): Show 
HG01106.hp1
HG02683.hp2
HG02922.hp1
HG03239.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
 intron_variant MODIFIER c.22281+1785delA
c.22281+1785delA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39482791
chr1:39482814 AAC
AAC
 A
A
 27 a0001c0001t0001g0091
a0001c0034t0001g0090
a0002c0004t0001g0009
others(24): Show 
a0001c0001t0001g0091
a0001c0034t0001g0090
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0039t0001g0073
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0004c0011t0003g0169
a0004c0011t0003g0170
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0008c0010t0003g0220
a0020c0075t0001g0211
a0024c0076t0003g0222
a0028c0050t0008g0233
a0029c0061t0003g0232
a0037c0058t0001g0245
a0043c0057t0001g0168
 27 HG00642.hp1
HG00642.hp2
HG00735.hp2
others(24): Show 
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG01243.hp1
HG01243.hp2
HG02055.hp1
HG02280.hp1
HG02717.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03579.hp2
HG03927.hp2
HG06807.hp1
NA18906.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA21309.hp1
 intron_variant MODIFIER c.22281+1785_22282-1
others(8): Show 
c.22281+1785_22282-1785delAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39482814
chr1:39482815 AC
AC
 A
A
 88 a0001c0001t0001g0053
a0001c0001t0001g0092
a0001c0001t0002g0016
others(85): Show 
a0001c0001t0001g0053
a0001c0001t0001g0092
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0088
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0175
a0002c0025t0001g0001
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0119
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0171
a0005c0008t0005g0162
a0005c0008t0005g0163
a0005c0008t0005g0164
a0005c0009t0003g0218
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0221
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
a0010c0016t0004g0140
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0012c0029t0001g0165
a0012c0029t0001g0212
a0013c0023t0001g0003
a0013c0023t0001g0004
a0015c0022t0001g0005
a0015c0022t0001g0007
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0022c0072t0001g0209
a0023c0074t0001g0206
a0026c0049t0001g0002
a0027c0063t0002g0229
a0035c0055t0002g0179
a0036c0048t0001g0008
a0038c0054t0002g0178
a0045c0070t0001g0144
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
a0051c0045t0012g0022
 88 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(85): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00733.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01261.hp1
HG01361.hp2
HG01433.hp2
HG01884.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02273.hp2
HG02572.hp2
HG02615.hp1
HG02683.hp1
HG02738.hp1
HG02965.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp2
NA18522.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18973.hp2
NA18974.hp2
NA18975.hp2
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp2
NA19002.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19080.hp1
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp2
 intron_variant MODIFIER c.22282-1782delC
c.22282-1782delC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39482815
chr1:39482816 C
C
 A
A
 115 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(112): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0037
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0031t0001g0106
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0001c0062t0001g0006
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0230
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0015t0002g0172
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0149
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0001g0159
a0003c0002t0001g0160
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0009c0014t0001g0190
a0010c0016t0004g0136
a0010c0016t0004g0145
a0010c0064t0004g0133
a0014c0021t0001g0227
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0031c0059t0002g0177
a0032c0043t0001g0064
a0033c0053t0001g0200
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0042c0052t0001g0201
a0044c0032t0001g0102
a0046c0044t0001g0100
a0047c0068t0001g0129
a0053c0077t0001g0020
 115 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(112): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00544.hp2
HG00609.hp1
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03209.hp1
HG03239.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03540.hp1
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18906.hp2
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp2
NA19080.hp2
NA19083.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.22282-1785C>A
c.22282-1785C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39482816
chr1:39483028 A
A
 G
G
 2 a0001c0001t0001g0017
a0006c0005t0001g0236
a0001c0001t0001g0017
a0006c0005t0001g0236
 2 HG02074.hp1
HG04204.hp1
HG02074.hp1
HG04204.hp1
 intron_variant MODIFIER c.22282-1573A>G
c.22282-1573A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483028
chr1:39483069 G
G
 A
A
 92 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(89): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0003c0002t0001g0155
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0032c0043t0001g0064
a0034c0056t0001g0176
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0051c0045t0012g0022
a0053c0077t0001g0020
 92 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(89): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00609.hp1
HG00733.hp1
HG00735.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.22282-1532G>A
c.22282-1532G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483069
chr1:39483086 C
C
 CA
CA
 46 a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
others(43): Show 
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0080
a0001c0001t0001g0104
a0001c0012t0001g0058
a0001c0012t0001g0060
a0001c0017t0001g0029
a0002c0003t0001g0187
a0002c0004t0001g0009
a0002c0004t0001g0011
a0002c0004t0001g0012
a0002c0004t0001g0193
a0002c0004t0001g0195
a0002c0004t0001g0196
a0002c0004t0001g0197
a0002c0004t0001g0199
a0002c0004t0001g0202
a0002c0004t0001g0204
a0002c0004t0001g0223
a0002c0004t0001g0224
a0002c0004t0011g0194
a0002c0024t0001g0198
a0002c0024t0001g0203
a0002c0025t0001g0191
a0003c0002t0001g0143
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0075
a0004c0019t0001g0050
a0006c0005t0001g0242
a0007c0007t0001g0081
a0007c0007t0001g0082
a0008c0010t0001g0208
a0014c0021t0001g0226
a0025c0030t0001g0067
a0030c0060t0001g0241
a0032c0043t0001g0064
a0041c0033t0001g0055
a0042c0052t0001g0201
a0043c0057t0001g0168
 46 HG00639.hp2
HG01106.hp2
HG01109.hp1
others(43): Show 
HG00639.hp2
HG01106.hp2
HG01109.hp1
HG01243.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01884.hp1
HG01952.hp2
HG02071.hp2
HG02129.hp2
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03209.hp1
HG03239.hp2
HG03486.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
NA18906.hp2
NA18943.hp1
NA18960.hp1
NA18981.hp2
NA18988.hp1
NA18988.hp2
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19088.hp1
NA20129.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.22282-1489dupA
c.22282-1489dupA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483086
chr1:39483086 C
C
 CAA
CAA
 18 a0001c0001t0001g0061
a0001c0001t0001g0103
a0001c0034t0001g0090
others(15): Show 
a0001c0001t0001g0061
a0001c0001t0001g0103
a0001c0034t0001g0090
a0002c0004t0001g0010
a0004c0019t0001g0052
a0005c0008t0005g0162
a0005c0008t0005g0163
a0006c0005t0001g0237
a0006c0005t0001g0243
a0006c0005t0001g0244
a0009c0014t0001g0190
a0009c0014t0010g0225
a0009c0047t0001g0189
a0011c0013t0001g0078
a0011c0013t0001g0079
a0017c0020t0001g0085
a0033c0053t0001g0200
a0052c0046t0001g0068
 18 HG01069.hp1
HG01069.hp2
HG01106.hp1
others(15): Show 
HG01069.hp1
HG01069.hp2
HG01106.hp1
HG02257.hp2
HG02486.hp1
HG02602.hp2
HG02738.hp2
HG02965.hp2
HG03041.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03486.hp1
HG03540.hp1
HG04115.hp1
HG04115.hp2
NA19000.hp1
NA19043.hp1
 intron_variant MODIFIER c.22282-1490_22282-1
others(8): Show 
c.22282-1490_22282-1489dupAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483086
chr1:39483086 C
C
 CAAA
CAAA
 11 a0001c0001t0001g0091
a0001c0001t0001g0092
a0005c0008t0005g0164
others(8): Show 
a0001c0001t0001g0091
a0001c0001t0001g0092
a0005c0008t0005g0164
a0006c0005t0001g0234
a0006c0005t0001g0235
a0006c0005t0001g0236
a0006c0005t0001g0238
a0006c0005t0001g0240
a0009c0014t0009g0192
a0011c0013t0001g0076
a0036c0048t0001g0008
 11 HG02055.hp1
HG02145.hp1
HG02572.hp1
others(8): Show 
HG02055.hp1
HG02145.hp1
HG02572.hp1
HG02647.hp2
HG03098.hp1
HG03516.hp2
HG03579.hp1
HG04204.hp1
NA19030.hp1
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.22282-1491_22282-1
others(9): Show 
c.22282-1491_22282-1489dupAAA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483086
chr1:39483097 AAAAAAAA
others(9): Show 
AAAAAAAAAAAAAAAAC
 A
A
 1 a0001c0001t0001g0099
a0001c0001t0001g0099
 1 HG03491.hp1
HG03491.hp1
 intron_variant MODIFIER c.22282-1502_22282-1
others(22): Show 
c.22282-1502_22282-1487delAAAAAAAAAAAAAACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483097
chr1:39483103 AAAAAAAA
others(3): Show 
AAAAAAAAAAC
 A
A
 31 a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
others(28): Show 
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0185
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0002g0137
a0007c0007t0002g0054
a0007c0007t0002g0057
a0016c0026t0001g0174
a0027c0063t0002g0229
a0031c0059t0002g0177
a0035c0055t0002g0179
 31 HG00544.hp2
HG00558.hp1
HG00597.hp1
others(28): Show 
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG01081.hp1
HG01167.hp2
HG01346.hp2
HG02071.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG03491.hp2
NA18953.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19086.hp1
NA19088.hp2
 intron_variant MODIFIER c.22282-1496_22282-1
others(16): Show 
c.22282-1496_22282-1487delAAAAAAAACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483103
chr1:39483104 AAAAAAAA
others(2): Show 
AAAAAAAAAC
 A
A
 5 a0002c0003t0002g0184
a0002c0003t0002g0188
a0002c0003t0002g0231
others(2): Show 
a0002c0003t0002g0184
a0002c0003t0002g0188
a0002c0003t0002g0231
a0028c0050t0008g0233
a0038c0054t0002g0178
 5 HG00438.hp2
HG02965.hp1
NA18981.hp1
others(2): Show 
HG00438.hp2
HG02965.hp1
NA18981.hp1
NA19084.hp2
NA20805.hp2
 intron_variant MODIFIER c.22282-1495_22282-1
others(15): Show 
c.22282-1495_22282-1487delAAAAAAACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483104
chr1:39483105 AAAAAAAA
others(1): Show 
AAAAAAAAC
 A
A
 15 a0004c0011t0003g0167
a0004c0011t0003g0170
a0004c0011t0003g0171
others(12): Show 
a0004c0011t0003g0167
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0008c0010t0003g0213
a0008c0010t0003g0220
a0008c0010t0003g0221
a0012c0029t0001g0165
a0012c0029t0001g0212
a0023c0074t0001g0206
a0024c0076t0003g0222
a0029c0061t0003g0232
 15 HG01109.hp2
HG01884.hp2
HG02055.hp2
others(12): Show 
HG01109.hp2
HG01884.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02976.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03579.hp2
HG06807.hp2
NA18906.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.22282-1494_22282-1
others(14): Show 
c.22282-1494_22282-1487delAAAAAACA
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483105
chr1:39483111 AAC
AAC
 A
A
 28 a0001c0001t0001g0065
a0003c0002t0001g0108
a0003c0002t0001g0114
others(25): Show 
a0001c0001t0001g0065
a0003c0002t0001g0108
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0121
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0153
a0003c0002t0001g0161
a0003c0071t0001g0120
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0045c0070t0001g0144
a0047c0068t0001g0129
a0049c0067t0001g0116
a0050c0069t0001g0123
 28 HG00140.hp2
HG00639.hp1
HG00733.hp2
others(25): Show 
HG00140.hp2
HG00639.hp1
HG00733.hp2
HG01099.hp2
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02074.hp2
HG02273.hp2
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG03490.hp1
HG03540.hp2
NA18943.hp2
NA18954.hp2
NA18960.hp2
NA18966.hp2
NA18971.hp2
NA18973.hp2
NA18995.hp2
NA18999.hp2
NA19011.hp1
NA19083.hp2
NA19085.hp2
 intron_variant MODIFIER c.22282-1487_22282-1
others(8): Show 
c.22282-1487_22282-1486delAC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39483111
chr1:39483112 AC
AC
 A
A
 14 a0001c0001t0001g0053
a0002c0039t0001g0073
a0003c0002t0001g0109
others(11): Show 
a0001c0001t0001g0053
a0002c0039t0001g0073
a0003c0002t0001g0109
a0003c0002t0001g0122
a0003c0002t0001g0148
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0066t0001g0117
a0007c0007t0001g0101
a0010c0016t0004g0145
a0010c0064t0004g0133
a0048c0065t0001g0141
a0051c0045t0012g0022
 14 HG00609.hp1
HG00741.hp1
HG00741.hp2
others(11): Show 
HG00609.hp1
HG00741.hp1
HG00741.hp2
HG02129.hp1
HG02135.hp2
HG02523.hp1
HG02523.hp2
HG03927.hp2
NA18939.hp2
NA18974.hp2
NA18975.hp2
NA18980.hp2
NA19000.hp2
NA20805.hp1
 intron_variant MODIFIER c.22282-1488delC
c.22282-1488delC
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483112
chr1:39483113 C
C
 A
A
 99 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(96): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0135
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0152
a0003c0002t0001g0154
a0003c0002t0001g0155
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0008c0010t0001g0208
a0010c0016t0004g0136
a0010c0016t0004g0140
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0016c0026t0001g0173
a0017c0020t0001g0085
a0017c0020t0001g0086
a0020c0075t0001g0211
a0022c0072t0001g0209
a0025c0030t0001g0067
a0032c0043t0001g0064
a0034c0056t0001g0176
a0037c0058t0001g0245
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0043c0057t0001g0168
a0044c0032t0001g0102
a0046c0044t0001g0100
a0053c0077t0001g0020
 99 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(96): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00544.hp1
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02145.hp1
HG02165.hp1
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp1
HG02615.hp2
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA19000.hp1
NA19002.hp1
NA19010.hp1
NA19010.hp2
NA19043.hp2
NA19080.hp2
NA19084.hp1
NA19085.hp1
NA19086.hp2
NA19088.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.22282-1488C>A
c.22282-1488C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483113
chr1:39483114 A
A
 G
G
 2 a0003c0002t0001g0125
a0003c0002t0001g0131
a0003c0002t0001g0125
a0003c0002t0001g0131
 2 NA18960.hp2
NA19011.hp1
NA18960.hp2
NA19011.hp1
 intron_variant MODIFIER c.22282-1487A>G
c.22282-1487A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483114
chr1:39483145 A
A
 G
G
 5 a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
others(2): Show 
a0005c0008t0001g0207
a0005c0008t0001g0210
a0005c0008t0007g0166
a0020c0075t0001g0211
a0022c0072t0001g0209
 5 HG00642.hp1
HG02615.hp1
HG02717.hp2
others(2): Show 
HG00642.hp1
HG02615.hp1
HG02717.hp2
HG02818.hp2
HG02895.hp1
 intron_variant MODIFIER c.22282-1456A>G
c.22282-1456A>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483145
chr1:39483174 A
A
 C
C
 4 a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
others(1): Show 
a0009c0014t0001g0190
a0009c0014t0009g0192
a0009c0014t0010g0225
a0009c0047t0001g0189
 4 HG01069.hp2
HG03041.hp1
HG03130.hp2
others(1): Show 
HG01069.hp2
HG03041.hp1
HG03130.hp2
HG03579.hp1
 intron_variant MODIFIER c.22282-1427A>C
c.22282-1427A>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483174
chr1:39483235 T
T
 C
C
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.22282-1366T>C
c.22282-1366T>C
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483235
chr1:39483335 T
T
 G
G
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.22282-1266T>G
c.22282-1266T>G
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483335
chr1:39483382 C
C
 T
T
 1 a0019c0028t0001g0132
a0019c0028t0001g0132
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.22282-1219C>T
c.22282-1219C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483382
chr1:39483442 C
C
 A
A
 1 a0001c0001t0001g0027
a0001c0001t0001g0027
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.22282-1159C>A
c.22282-1159C>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39483442
chr1:39484094 G
G
 A
A
 3 a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
a0013c0023t0001g0003
a0013c0023t0001g0004
a0026c0049t0001g0002
 3 HG02109.hp1
HG03453.hp2
NA20129.hp2
HG02109.hp1
HG03453.hp2
NA20129.hp2
 intron_variant MODIFIER c.22282-507G>A
c.22282-507G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39484094
chr1:39484331 AT
AT
 A
A
 130 a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
others(127): Show 
a0001c0001t0001g0015
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0019
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0027
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0043
a0001c0001t0001g0045
a0001c0001t0001g0046
a0001c0001t0001g0048
a0001c0001t0001g0051
a0001c0001t0001g0061
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0080
a0001c0001t0001g0087
a0001c0001t0001g0089
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0105
a0001c0001t0001g0107
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0001t0006g0066
a0001c0012t0001g0058
a0001c0012t0001g0059
a0001c0012t0001g0060
a0001c0017t0001g0028
a0001c0017t0001g0029
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0031t0001g0106
a0001c0034t0001g0090
a0001c0036t0002g0035
a0001c0037t0001g0095
a0001c0040t0001g0014
a0001c0041t0001g0072
a0002c0003t0001g0186
a0002c0003t0001g0187
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0003c0002t0001g0139
a0003c0002t0001g0143
a0003c0002t0001g0154
a0003c0002t0001g0155
a0003c0002t0002g0137
a0004c0006t0001g0049
a0004c0006t0001g0062
a0004c0006t0001g0069
a0004c0006t0001g0074
a0004c0006t0001g0075
a0004c0006t0001g0077
a0004c0006t0001g0083
a0004c0035t0001g0063
a0004c0038t0001g0084
a0006c0005t0001g0238
a0006c0005t0001g0239
a0006c0005t0001g0240
a0007c0007t0001g0056
a0007c0007t0001g0081
a0007c0007t0001g0082
a0007c0007t0001g0101
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0001g0208
a0009c0014t0010g0225
a0010c0016t0004g0136
a0010c0016t0004g0140
a0010c0016t0004g0145
a0010c0064t0004g0133
a0011c0013t0001g0076
a0011c0013t0001g0078
a0011c0013t0001g0079
a0014c0021t0001g0226
a0016c0026t0001g0173
a0016c0026t0001g0174
a0017c0020t0001g0085
a0017c0020t0001g0086
a0025c0030t0001g0067
a0027c0063t0002g0229
a0031c0059t0002g0177
a0032c0043t0001g0064
a0034c0056t0001g0176
a0035c0055t0002g0179
a0038c0054t0002g0178
a0039c0042t0001g0021
a0040c0051t0001g0205
a0041c0033t0001g0055
a0044c0032t0001g0102
a0046c0044t0001g0100
a0048c0065t0001g0141
a0051c0045t0012g0022
a0053c0077t0001g0020
 130 HG00140.hp1
HG00280.hp1
HG00280.hp2
others(127): Show 
HG00140.hp1
HG00280.hp1
HG00280.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01167.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02273.hp1
HG02280.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG04204.hp2
NA18522.hp1
NA18939.hp1
NA18942.hp2
NA18943.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18973.hp1
NA18974.hp2
NA18975.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18995.hp1
NA18999.hp1
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp2
NA19043.hp2
NA19080.hp1
NA19080.hp2
NA19083.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19088.hp1
NA19088.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.22282-258delT
c.22282-258delT
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 INFO_REALIGN_3_PRIME chr1 39484331
chr1:39484408 C
C
 T
T
 95 a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0002g0016
others(92): Show 
a0001c0001t0001g0053
a0001c0001t0001g0065
a0001c0001t0002g0016
a0001c0001t0002g0032
a0001c0001t0002g0033
a0001c0001t0002g0034
a0001c0001t0002g0037
a0001c0001t0002g0088
a0001c0018t0002g0036
a0001c0018t0002g0047
a0001c0036t0002g0035
a0002c0003t0002g0044
a0002c0003t0002g0093
a0002c0003t0002g0113
a0002c0003t0002g0127
a0002c0003t0002g0180
a0002c0003t0002g0181
a0002c0003t0002g0182
a0002c0003t0002g0183
a0002c0003t0002g0184
a0002c0003t0002g0185
a0002c0003t0002g0188
a0002c0003t0002g0228
a0002c0003t0002g0230
a0002c0003t0002g0231
a0002c0003t0002g0246
a0002c0015t0002g0112
a0002c0015t0002g0172
a0002c0015t0002g0175
a0002c0039t0001g0073
a0003c0002t0001g0108
a0003c0002t0001g0109
a0003c0002t0001g0110
a0003c0002t0001g0111
a0003c0002t0001g0114
a0003c0002t0001g0115
a0003c0002t0001g0118
a0003c0002t0001g0119
a0003c0002t0001g0121
a0003c0002t0001g0122
a0003c0002t0001g0124
a0003c0002t0001g0125
a0003c0002t0001g0126
a0003c0002t0001g0128
a0003c0002t0001g0131
a0003c0002t0001g0134
a0003c0002t0001g0135
a0003c0002t0001g0138
a0003c0002t0001g0142
a0003c0002t0001g0146
a0003c0002t0001g0147
a0003c0002t0001g0148
a0003c0002t0001g0149
a0003c0002t0001g0150
a0003c0002t0001g0151
a0003c0002t0001g0152
a0003c0002t0001g0153
a0003c0002t0001g0156
a0003c0002t0001g0159
a0003c0002t0001g0160
a0003c0002t0001g0161
a0003c0002t0002g0137
a0003c0066t0001g0117
a0003c0071t0001g0120
a0004c0011t0003g0167
a0004c0011t0003g0169
a0004c0011t0003g0170
a0004c0011t0003g0171
a0005c0009t0003g0214
a0005c0009t0003g0215
a0005c0009t0003g0216
a0005c0009t0003g0217
a0005c0009t0003g0218
a0007c0007t0002g0054
a0007c0007t0002g0057
a0008c0010t0003g0213
a0008c0010t0003g0219
a0008c0010t0003g0220
a0008c0010t0003g0221
a0018c0027t0001g0157
a0018c0027t0001g0158
a0019c0028t0001g0130
a0019c0028t0001g0132
a0024c0076t0003g0222
a0027c0063t0002g0229
a0028c0050t0008g0233
a0029c0061t0003g0232
a0031c0059t0002g0177
a0035c0055t0002g0179
a0038c0054t0002g0178
a0045c0070t0001g0144
a0047c0068t0001g0129
a0048c0065t0001g0141
a0049c0067t0001g0116
a0050c0069t0001g0123
 95 HG00140.hp2
HG00438.hp2
HG00544.hp2
others(92): Show 
HG00140.hp2
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp2
HG01167.hp2
HG01261.hp1
HG01346.hp2
HG01361.hp2
HG01433.hp2
HG01952.hp1
HG01981.hp2
HG02004.hp1
HG02015.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp2
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp2
HG02280.hp1
HG02602.hp1
HG02683.hp1
HG02738.hp1
HG02965.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03491.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG03927.hp2
HG06807.hp1
NA18906.hp1
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18953.hp1
NA18954.hp2
NA18960.hp2
NA18962.hp2
NA18966.hp2
NA18969.hp1
NA18971.hp2
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18980.hp2
NA18981.hp1
NA18986.hp1
NA18987.hp1
NA18990.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp2
NA19011.hp1
NA19011.hp2
NA19080.hp1
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19086.hp1
NA19088.hp2
NA19091.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.22282-193C>T
c.22282-193C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 99/100 chr1 39484408
chr1:39484746 G
G
 A
A
 1 a0002c0003t0002g0093
a0002c0003t0002g0093
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.22411+16G>A
c.22411+16G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 100/100 chr1 39484746
chr1:39484748 G
G
 T
T
 1 a0002c0003t0001g0187
a0002c0003t0001g0187
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.22411+18G>T
c.22411+18G>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 100/100 chr1 39484748
chr1:39484817 G
G
 A
A
 1 a0001c0062t0001g0006
a0001c0062t0001g0006
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.22411+87G>A
c.22411+87G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 100/100 chr1 39484817
chr1:39484869 G
G
 A
A
 15 a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
others(12): Show 
a0001c0001t0001g0031
a0001c0001t0001g0038
a0001c0001t0001g0039
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0089
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0017t0001g0028
a0001c0017t0001g0029
a0003c0002t0001g0139
a0039c0042t0001g0021
a0040c0051t0001g0205
a0053c0077t0001g0020
 15 HG00544.hp1
HG01346.hp1
HG01361.hp1
others(12): Show 
HG00544.hp1
HG01346.hp1
HG01361.hp1
HG01952.hp2
HG02004.hp2
HG02071.hp2
HG02273.hp1
NA18962.hp1
NA18971.hp1
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19002.hp1
NA19010.hp1
 intron_variant MODIFIER c.22411+139G>A
c.22411+139G>A
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 100/100 chr1 39484869
chr1:39485494 C
C
 T
T
 1 a0003c0002t0001g0110
a0003c0002t0001g0110
 1 HG00642.hp2
HG00642.hp2
 intron_variant MODIFIER c.22412-44C>T
c.22412-44C>T
MACF1 ENSG00000127603.32 transcript ENST00000564288.6 protein_coding 100/100 chr1 39485494

  • 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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