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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   COL12A1_chr6_75079326_75211053  COL12A1_chr6_75079326_75211053 (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 1303
ensemblid ENSG00000111799.22
hgncid 2188
symbol COL12A1
name collagen type XII alpha 1 chain
refseq_nuc NM_004370.6
refseq_prot NP_004361.3
ensembl_nuc ENST00000322507.13
ensembl_prot ENSP00000325146.8
mane_status MANE Select
chr chr6
start 75084326
end 75206053
strand -
ver v1.2
region chr6:75084326-75206053
region5000 chr6:75079326-75211053
regionname0 COL12A1_chr6_75084326_75206053
regionname5000 COL12A1_chr6_75079326_75211053

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 3063 83 16 10 44 2 11 33 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002 1/0 3063 41 5 6 25 0 4 14 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003 0/0 3063 34 15 6 7 1 5 4 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004 0/0 3063 9 3 1 3 0 2 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0005 0/0 3063 6 6 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0006 0/0 3063 4 4 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0007 0/0 3063 2 2 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0008 0/0 3063 2 2 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0009 0/0 3063 2 0 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0010 0/0 3063 2 2 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0011 0/0 3063 2 2 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0012 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0013 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0014 0/1 3063 1 0 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0015 0/0 3063 1 0 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0016 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0017 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0018 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0019 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0020 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0021 0/0 3063 1 0 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0022 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0023 0/0 3063 1 0 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0024 0/0 3063 1 0 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0025 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0026 0/0 3063 1 0 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0027 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0028 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0029 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0030 0/0 3063 1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 9192 66 9 7 37 2 11 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0002 0/0 9192 32 1 6 23 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0003 0/0 9192 30 13 4 7 1 5 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0004 0/0 9192 7 2 1 2 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0005 0/0 9192 7 1 1 5 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0006 1/0 9192 6 1 0 2 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0007 0/0 9192 3 3 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0008 0/0 9192 3 3 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0009 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0010 0/0 9192 2 0 2 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0011 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0012 0/0 9192 2 1 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0013 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0014 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0015 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0016 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0017 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0018 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0019 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0020 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0021 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0022 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0023 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0024 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0025 0/1 9192 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0026 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0027 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0028 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0029 0/0 9192 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0030 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0031 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0032 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0033 0/0 9192 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0034 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0035 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0036 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0037 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0038 0/0 9192 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0039 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0040 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0041 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0042 0/0 9192 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0043 0/0 9192 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0044 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0045 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0046 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0047 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0048 0/0 9192 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0049 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0050 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0051 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0052 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0053 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
c0054 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 2538 102 5 18 56 3 19 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0002 1/0 2534 21 5 0 11 1 3 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0003 0/0 2540 20 20 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0004 0/0 2536 15 0 2 11 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0005 0/0 2542 12 9 3 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0006 0/0 2539 10 10 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0007 0/0 2539 8 7 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0008 0/0 2537 2 1 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0009 0/0 2537 2 1 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0010 0/0 2540 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0011 0/0 2534 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0012 0/0 2541 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0013 0/0 2534 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0014 0/0 2534 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0015 0/0 2534 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0016 0/0 2541 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0017 0/0 2538 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0018 0/0 2538 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0019 0/0 2538 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0020 0/0 2542 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0021 0/0 2542 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
t0022 0/0 2538 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 0 2 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0002 0/0 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0003 0/0 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0004 0/0 2 0 0 2 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0005 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0006 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0007 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0008 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0009 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0010 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0011 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0012 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0013 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0014 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0015 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0016 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0017 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0018 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0019 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0020 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0021 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0022 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0023 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0024 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0025 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0026 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0027 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0028 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0029 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0030 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0031 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0032 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0033 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0034 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0035 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0036 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0037 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0038 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0039 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0040 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0041 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0042 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0043 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0044 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0045 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0046 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0047 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0048 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0049 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0050 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0051 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0052 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0053 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0054 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0055 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0056 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0057 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0058 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0059 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0060 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0061 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0062 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0063 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0064 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0065 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0066 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0067 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0068 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0069 0/1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0070 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0071 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0072 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0073 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0074 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0075 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0076 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0077 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0078 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0079 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0080 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0081 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0082 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0083 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0084 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0085 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0086 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0087 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0088 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0089 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0090 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0091 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0092 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0093 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0094 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0095 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0096 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0097 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0098 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0099 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0100 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0101 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0102 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0103 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0104 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0105 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0106 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0107 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0108 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0109 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0110 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0111 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0112 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0113 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0114 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0115 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0116 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0117 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0118 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0119 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0120 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0121 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0122 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0123 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0124 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0125 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0126 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0127 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0128 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0129 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0130 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0131 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0132 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0133 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0134 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0135 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0136 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0137 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0138 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0139 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0140 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0141 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0142 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0143 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0144 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0145 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0146 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0147 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0148 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0149 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0150 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0151 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0152 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0153 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0154 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0155 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0156 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0157 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0158 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0159 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0160 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0161 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0162 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0163 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0164 1/0 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0165 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0166 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0167 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0168 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0169 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0170 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0171 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0172 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0173 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0174 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0175 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0176 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0177 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0178 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0179 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0180 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0181 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0182 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0183 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0184 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0185 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0186 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0187 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0188 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0189 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0190 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0191 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0192 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0193 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0194 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0195 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0196 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0197 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0198 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0199 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0200 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0201 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
g0202 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 9192 66 9 7 37 2 11 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0005 0/0 9192 7 1 1 5 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0019 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0022 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0035 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0037 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0038 0/0 9192 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0039 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0041 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0043 0/0 9192 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0045 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0046 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0002 0/0 9192 32 1 6 23 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0006 1/0 9192 6 1 0 2 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0017 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0023 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0054 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0003 0/0 9192 30 13 4 7 1 5 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0021 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0027 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0031 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0032 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0004 0/0 9192 7 2 1 2 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0012 0/0 9192 2 1 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0005c0008 0/0 9192 3 3 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0005c0013 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0005c0016 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0006c0007 0/0 9192 3 3 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0006c0026 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0007c0009 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0008c0011 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0009c0010 0/0 9192 2 0 2 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0010c0014 0/0 9192 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0011c0049 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0011c0051 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0012c0015 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0013c0024 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0014c0025 0/1 9192 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0015c0042 0/0 9192 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0016c0044 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0017c0034 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0018c0036 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0019c0040 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0020c0030 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0021c0033 0/0 9192 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0022c0028 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0023c0029 0/0 9192 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0024c0020 0/0 9192 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0025c0047 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0026c0048 0/0 9192 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0027c0018 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0028c0053 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0029c0052 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0030c0050 0/0 9192 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 11729 44 1 7 24 2 10 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0001t0002 0/0 11725 2 0 0 2 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0001t0003 0/0 11731 5 5 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0001t0004 0/0 11727 11 0 0 10 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0001t0010 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0001t0019 0/0 11729 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0001t0021 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0001t0022 0/0 11729 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0005t0001 0/0 11729 2 0 0 2 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0005t0002 0/0 11725 3 0 0 3 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0005t0005 0/0 11733 2 1 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0019t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0022t0001 0/0 11729 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0035t0003 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0037t0001 0/0 11729 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0038t0004 0/0 11727 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0039t0001 0/0 11729 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0041t0007 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0043t0001 0/0 11729 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0045t0003 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0001c0046t0007 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0002t0001 0/0 11729 27 0 5 20 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0002t0002 0/0 11725 4 1 0 3 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0002t0008 0/0 11728 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0006t0002 1/0 11725 5 0 0 2 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0006t0014 0/0 11725 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0017t0002 0/0 11725 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0023t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0002c0054t0003 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0003t0001 0/0 11729 16 3 2 6 1 4 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0003t0002 0/0 11725 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0003t0003 0/0 11731 8 8 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0003t0004 0/0 11727 3 0 2 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0003t0007 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0003t0016 0/0 11732 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0021t0013 0/0 11725 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0027t0009 0/0 11728 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0031t0001 0/0 11729 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0003c0032t0003 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0004t0001 0/0 11729 4 0 1 1 0 2 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0004t0003 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0004t0017 0/0 11729 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0004t0018 0/0 11729 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0012t0001 0/0 11729 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0004c0012t0011 0/0 11725 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0005c0008t0006 0/0 11730 3 3 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0005c0013t0006 0/0 11730 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0005c0016t0006 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0006c0007t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0006c0007t0006 0/0 11730 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0006c0026t0006 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0007c0009t0002 0/0 11725 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0008c0011t0007 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0008c0011t0012 0/0 11732 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0009c0010t0005 0/0 11733 2 0 2 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0010c0014t0002 0/0 11725 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0010c0014t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0011c0049t0003 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0011c0051t0007 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0012c0015t0009 0/0 11728 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0013c0024t0003 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0014c0025t0001 0/1 11729 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0015c0042t0002 0/0 11725 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0016c0044t0015 0/0 11725 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0017c0034t0006 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0018c0036t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0019c0040t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0020c0030t0020 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0021c0033t0002 0/0 11725 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0022c0028t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0023c0029t0001 0/0 11729 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0024c0020t0007 0/0 11730 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0025c0047t0005 0/0 11733 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0026c0048t0001 0/0 11729 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0027c0018t0007 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0028c0053t0007 0/0 11730 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0029c0052t0008 0/0 11728 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053
a0030c0050t0010 0/0 11731 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 copy fasta chr6 75079326 75211053

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0004 0/0 2 0 0 2 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0009 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0011 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0018 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0025 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0046 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0054 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0055 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0056 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0058 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0059 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0062 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0068 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0070 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0072 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0076 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0087 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0093 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0095 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0104 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0116 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0121 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0130 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0141 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0144 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0152 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0153 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0159 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0160 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0161 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0165 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0174 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0181 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0001g0185 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0002g0017 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0002g0091 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0003g0138 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0003g0139 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0003g0150 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0003g0155 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0003g0162 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0013 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0014 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0019 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0073 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0082 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0090 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0105 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0115 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0124 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0137 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0004g0183 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0010g0171 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0019g0077 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0021g0201 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0001t0022g0063 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0005t0001g0038 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0005t0001g0075 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0005t0002g0098 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0005t0002g0142 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0005t0002g0143 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0005t0005g0129 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0005t0005g0170 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0019t0005g0048 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0022t0001g0136 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0035t0003g0101 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0037t0001g0064 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0038t0004g0023 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0039t0001g0140 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0041t0007g0146 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0043t0001g0078 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0045t0003g0134 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0001c0046t0007g0133 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0006 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0007 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0008 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0010 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0012 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0015 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0016 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0020 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0021 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0022 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0024 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0060 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0071 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0079 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0080 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0086 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0088 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0089 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0097 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0102 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0112 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0113 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0122 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0131 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0151 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0178 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0001g0191 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0002g0053 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0002g0085 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0002g0163 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0002g0176 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0002t0008g0169 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0006t0002g0066 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0006t0002g0106 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0006t0002g0119 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0006t0002g0164 1/0 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0006t0002g0175 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0006t0014g0050 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0017t0002g0037 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0023t0005g0123 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0002c0054t0003g0193 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0031 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0057 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0067 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0096 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0109 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0110 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0111 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0114 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0126 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0167 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0179 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0180 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0182 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0187 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0188 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0001g0190 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0002g0100 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0003g0002 0/0 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0003g0030 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0003g0033 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0003g0034 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0003g0035 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0003g0156 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0003g0177 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0004g0001 0/0 2 0 2 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0004g0049 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0007g0120 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0003t0016g0172 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0021t0013g0043 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0027t0009g0125 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0031t0001g0107 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0003c0032t0003g0029 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0004t0001g0083 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0004t0001g0108 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0004t0001g0173 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0004t0001g0189 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0004t0003g0157 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0004t0017g0099 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0004t0018g0132 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0012t0001g0052 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0004c0012t0011g0005 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0005c0008t0006g0036 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0005c0008t0006g0128 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0005c0008t0006g0158 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0005c0013t0006g0147 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0005c0013t0006g0148 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0005c0016t0006g0028 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0006c0007t0005g0044 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0006c0007t0006g0039 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0006c0007t0006g0040 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0006c0026t0006g0168 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0007c0009t0002g0003 0/0 2 2 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0008c0011t0007g0042 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0008c0011t0012g0041 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0009c0010t0005g0045 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0009c0010t0005g0127 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0010c0014t0002g0196 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0010c0014t0005g0197 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0011c0049t0003g0166 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0011c0051t0007g0194 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0012c0015t0009g0027 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0013c0024t0003g0118 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0014c0025t0001g0069 0/1 1 0 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0015c0042t0002g0094 0/0 1 0 0 0 1 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0016c0044t0015g0135 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0017c0034t0006g0200 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0018c0036t0005g0149 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0019c0040t0005g0154 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0020c0030t0020g0202 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0021c0033t0002g0186 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0022c0028t0005g0032 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0023c0029t0001g0026 0/0 1 0 0 0 0 1 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0024c0020t0007g0047 0/0 1 0 1 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0025c0047t0005g0192 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0026c0048t0001g0117 0/0 1 0 0 1 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0027c0018t0007g0145 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0028c0053t0007g0199 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0029c0052t0008g0198 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
a0030c0050t0010g0195 0/0 1 1 0 0 0 0 COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00408 hp1 a0001 c0001 t0004 g0019 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00408 hp2 a0001 c0001 t0001 g0095 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00438 hp1 a0003 c0003 t0002 g0100 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00438 hp2 a0002 c0002 t0001 g0080 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00621 hp1 a0002 c0002 t0001 g0191 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00621 hp2 a0002 c0002 t0001 g0079 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00673 hp1 a0003 c0003 t0001 g0109 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00673 hp2 a0002 c0002 t0001 g0015 EAS CHS COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00741 hp1 a0001 c0005 t0005 g0129 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG00741 hp2 a0001 c0001 t0001 g0054 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01069 hp1 a0009 c0010 t0005 g0127 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01069 hp2 a0001 c0001 t0001 g0046 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01071 hp1 a0009 c0010 t0005 g0045 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01071 hp2 a0004 c0004 t0001 g0083 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01109 hp1 a0024 c0020 t0007 g0047 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01109 hp2 a0002 c0002 t0008 g0169 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01243 hp1 a0001 c0001 t0001 g0070 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01243 hp2 a0003 c0003 t0001 g0096 AMR PUR COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01261 hp1 a0001 c0039 t0001 g0140 AMR CLM COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01261 hp2 a0003 c0003 t0004 g0001 AMR CLM COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01496 hp1 a0002 c0002 t0001 g0088 AMR CLM COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01496 hp2 a0003 c0003 t0004 g0001 AMR CLM COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01891 hp1 a0011 c0049 t0003 g0166 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01891 hp2 a0003 c0003 t0003 g0035 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01928 hp1 a0001 c0037 t0001 g0064 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01928 hp2 a0002 c0002 t0001 g0024 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01975 hp1 a0002 c0002 t0001 g0071 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01975 hp2 a0003 c0027 t0009 g0125 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01978 hp1 a0003 c0003 t0001 g0126 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG01978 hp2 a0001 c0001 t0001 g0072 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02004 hp1 a0003 c0031 t0001 g0107 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02004 hp2 a0001 c0001 t0001 g0025 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02015 hp1 a0001 c0001 t0001 g0184 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02015 hp2 a0026 c0048 t0001 g0117 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02040 hp1 a0003 c0003 t0001 g0188 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02040 hp2 a0002 c0006 t0002 g0175 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02056 hp1 a0002 c0002 t0001 g0022 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02056 hp2 a0001 c0001 t0001 g0065 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02071 hp1 a0002 c0006 t0002 g0106 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02071 hp2 a0002 c0002 t0001 g0008 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02074 hp1 a0001 c0001 t0001 g0103 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02074 hp2 a0002 c0002 t0001 g0020 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02080 hp1 a0001 c0001 t0004 g0090 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02080 hp2 a0004 c0004 t0001 g0108 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02083 hp1 a0001 c0001 t0019 g0077 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02083 hp2 a0002 c0002 t0001 g0097 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02129 hp1 a0001 c0001 t0001 g0084 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02129 hp2 a0004 c0004 t0017 g0099 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02145 hp1 a0027 c0018 t0007 g0145 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02145 hp2 a0004 c0004 t0018 g0132 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02148 hp1 a0002 c0002 t0001 g0086 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02148 hp2 a0001 c0001 t0001 g0185 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02293 hp1 a0002 c0002 t0001 g0151 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02293 hp2 a0001 c0001 t0001 g0062 AMR PEL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02451 hp1 a0001 c0001 t0001 g0152 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02451 hp2 a0002 c0002 t0002 g0163 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02523 hp1 a0001 c0043 t0001 g0078 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02523 hp2 a0001 c0001 t0001 g0174 EAS KHV COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02572 hp1 a0003 c0003 t0003 g0034 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02572 hp2 a0006 c0007 t0005 g0044 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02602 hp1 a0004 c0004 t0001 g0189 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02602 hp2 a0001 c0001 t0001 g0058 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02615 hp1 a0003 c0003 t0003 g0030 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02615 hp2 a0018 c0036 t0005 g0149 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02630 hp1 a0005 c0013 t0006 g0148 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02630 hp2 a0003 c0003 t0001 g0167 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02647 hp1 a0029 c0052 t0008 g0198 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02647 hp2 a0003 c0003 t0001 g0031 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02698 hp1 a0002 c0002 t0001 g0112 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02698 hp2 a0001 c0001 t0001 g0144 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02717 hp1 a0002 c0006 t0014 g0050 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02717 hp2 a0030 c0050 t0010 g0195 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02723 hp1 a0019 c0040 t0005 g0154 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02723 hp2 a0011 c0051 t0007 g0194 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02735 hp1 a0001 c0001 t0004 g0073 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02735 hp2 a0023 c0029 t0001 g0026 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02818 hp1 a0001 c0046 t0007 g0133 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02818 hp2 a0005 c0008 t0006 g0158 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02886 hp1 a0001 c0045 t0003 g0134 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02886 hp2 a0005 c0008 t0006 g0128 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02895 hp1 a0007 c0009 t0002 g0003 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02895 hp2 a0001 c0041 t0007 g0146 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02896 hp1 a0003 c0003 t0003 g0002 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02896 hp2 a0008 c0011 t0007 g0042 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02897 hp1 a0007 c0009 t0002 g0003 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02897 hp2 a0003 c0003 t0003 g0002 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02965 hp1 a0022 c0028 t0005 g0032 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02965 hp2 a0001 c0001 t0003 g0155 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02976 hp1 a0002 c0017 t0002 g0037 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02976 hp2 a0001 c0001 t0003 g0138 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03098 hp1 a0001 c0005 t0005 g0170 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03098 hp2 a0010 c0014 t0002 g0196 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03195 hp1 a0005 c0016 t0006 g0028 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03195 hp2 a0001 c0019 t0005 g0048 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03209 hp1 a0006 c0007 t0006 g0039 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03209 hp2 a0003 c0003 t0007 g0120 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03225 hp1 a0003 c0003 t0016 g0172 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03225 hp2 a0028 c0053 t0007 g0199 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03486 hp1 a0001 c0001 t0021 g0201 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03486 hp2 a0002 c0054 t0003 g0193 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03491 hp1 a0001 c0001 t0001 g0059 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03491 hp2 a0001 c0001 t0001 g0159 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03492 hp1 a0001 c0001 t0001 g0160 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03492 hp2 a0001 c0001 t0001 g0104 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03516 hp1 a0006 c0007 t0006 g0040 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03516 hp2 a0002 c0023 t0005 g0123 AFR ESN COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03540 hp1 a0016 c0044 t0015 g0135 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03540 hp2 a0003 c0003 t0003 g0033 AFR GWD COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03579 hp1 a0008 c0011 t0012 g0041 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03579 hp2 a0013 c0024 t0003 g0118 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03704 hp1 a0021 c0033 t0002 g0186 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03704 hp2 a0001 c0001 t0001 g0068 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03710 hp1 a0003 c0003 t0001 g0110 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03710 hp2 a0002 c0002 t0001 g0131 SAS PJL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03942 hp1 a0001 c0001 t0001 g0161 SAS BEB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03942 hp2 a0002 c0006 t0002 g0119 SAS BEB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG04115 hp1 a0003 c0003 t0001 g0114 SAS STU COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG04115 hp2 a0003 c0003 t0001 g0187 SAS STU COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG04199 hp1 a0001 c0001 t0001 g0165 SAS STU COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG04199 hp2 a0002 c0006 t0002 g0066 SAS STU COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG04204 hp1 a0001 c0001 t0001 g0153 SAS STU COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG04204 hp2 a0003 c0003 t0004 g0049 SAS STU COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18522 hp1 a0005 c0008 t0006 g0036 AFR YRI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18522 hp2 a0003 c0021 t0013 g0043 AFR YRI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18747 hp1 a0002 c0002 t0001 g0178 EAS CHB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18747 hp2 a0001 c0001 t0001 g0051 EAS CHB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18906 hp1 a0001 c0001 t0003 g0139 AFR YRI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18906 hp2 a0003 c0003 t0003 g0156 AFR YRI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18944 hp1 a0001 c0005 t0002 g0098 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18944 hp2 a0001 c0001 t0001 g0141 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18945 hp1 a0001 c0001 t0004 g0014 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18945 hp2 a0001 c0001 t0001 g0181 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18946 hp1 a0001 c0001 t0001 g0055 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18946 hp2 a0002 c0002 t0001 g0021 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18948 hp1 a0001 c0005 t0002 g0142 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18948 hp2 a0001 c0001 t0001 g0018 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18952 hp1 a0002 c0002 t0002 g0085 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18952 hp2 a0001 c0001 t0001 g0004 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18962 hp1 a0001 c0001 t0004 g0013 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18962 hp2 a0002 c0002 t0001 g0012 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18966 hp1 a0001 c0038 t0004 g0023 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18966 hp2 a0001 c0001 t0001 g0004 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18968 hp1 a0001 c0001 t0004 g0082 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18968 hp2 a0001 c0001 t0001 g0011 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18979 hp1 a0001 c0001 t0004 g0183 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18979 hp2 a0001 c0001 t0004 g0105 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18982 hp1 a0002 c0002 t0002 g0176 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18982 hp2 a0001 c0001 t0001 g0081 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18984 hp1 a0002 c0002 t0001 g0060 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18984 hp2 a0001 c0001 t0004 g0115 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18985 hp1 a0001 c0001 t0004 g0137 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18985 hp2 a0003 c0003 t0001 g0067 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18988 hp1 a0002 c0002 t0001 g0006 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18988 hp2 a0001 c0001 t0001 g0092 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18993 hp1 a0001 c0001 t0002 g0091 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18993 hp2 a0001 c0005 t0001 g0038 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18994 hp1 a0002 c0002 t0001 g0007 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18994 hp2 a0002 c0002 t0001 g0113 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18995 hp1 a0001 c0001 t0004 g0124 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18995 hp2 a0001 c0005 t0001 g0075 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18999 hp1 a0003 c0003 t0001 g0057 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA18999 hp2 a0001 c0001 t0001 g0076 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19030 hp1 a0025 c0047 t0005 g0192 AFR LWK COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19030 hp2 a0001 c0001 t0010 g0171 AFR LWK COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19063 hp1 a0001 c0005 t0002 g0143 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19063 hp2 a0002 c0002 t0001 g0122 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19064 hp1 a0001 c0001 t0001 g0061 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19064 hp2 a0001 c0001 t0001 g0116 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19066 hp1 a0001 c0001 t0001 g0087 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19066 hp2 a0002 c0002 t0001 g0010 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19068 hp1 a0002 c0002 t0002 g0053 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19068 hp2 a0001 c0001 t0001 g0009 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19070 hp1 a0002 c0002 t0001 g0016 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19070 hp2 a0003 c0003 t0001 g0190 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19084 hp1 a0001 c0001 t0001 g0093 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19084 hp2 a0002 c0002 t0001 g0102 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19087 hp1 a0004 c0012 t0001 g0052 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19087 hp2 a0003 c0003 t0001 g0182 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19090 hp1 a0001 c0001 t0001 g0074 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19090 hp2 a0001 c0001 t0001 g0121 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19091 hp1 a0002 c0002 t0001 g0089 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19091 hp2 a0001 c0001 t0002 g0017 EAS JPT COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19240 hp1 a0020 c0030 t0020 g0202 AFR YRI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA19240 hp2 a0001 c0001 t0003 g0162 AFR YRI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20752 hp1 a0015 c0042 t0002 g0094 EUR TSI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20752 hp2 a0001 c0001 t0001 g0056 EUR TSI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20805 hp1 a0001 c0001 t0001 g0130 EUR TSI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20805 hp2 a0003 c0003 t0001 g0180 EUR TSI COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20905 hp1 a0004 c0004 t0001 g0173 SAS GIH COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20905 hp2 a0003 c0003 t0001 g0111 SAS GIH COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02109 hp1 a0003 c0032 t0003 g0029 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02109 hp2 a0010 c0014 t0005 g0197 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02486 hp1 a0003 c0003 t0001 g0179 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02486 hp2 a0004 c0004 t0003 g0157 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02559 hp1 a0006 c0026 t0006 g0168 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG02559 hp2 a0017 c0034 t0006 g0200 AFR ACB COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03471 hp1 a0001 c0001 t0003 g0150 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG03471 hp2 a0004 c0012 t0011 g0005 AFR MSL COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG06807 hp1 a0012 c0015 t0009 g0027 AFR USA COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
HG06807 hp2 a0001 c0022 t0001 g0136 AFR USA COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20300 hp1 a0001 c0001 t0022 g0063 AFR USA COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA20300 hp2 a0005 c0013 t0006 g0147 AFR USA COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA21309 hp1 a0003 c0003 t0003 g0177 AFR LWK COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
NA21309 hp2 a0001 c0035 t0003 g0101 AFR LWK COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
homoSapiens_chm13v2 hp1 a0014 c0025 t0001 g0069 REF REF COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053
homoSapiens_grch38 hp1 a0002 c0006 t0002 g0164 REF REF COL12A1_chr6_75079326_75211053 COL12A1 chr6 75079326 75211053

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
chr6:75087586 C
C
 T
T
 14 a0001
a0003
a0005
others(11): Show 
a0001
a0003
a0005
a0006
a0008
a0011
a0017
a0018
a0023
a0024
a0025
a0027
a0028
a0030
 139 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(136): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02056.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02148.hp2
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
 missense_variant MODERATE c.9172G>A
c.9172G>A
 p.Gly3058Ser
p.Gly3058Ser
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/66 9484/11725 9172/9192 3058/3063 chr6 75087586
chr6:75087614 C
C
 G
G
 1 a0020
a0020
 1 NA19240.hp1
NA19240.hp1
 missense_variant MODERATE c.9144G>C
c.9144G>C
 p.Gln3048His
p.Gln3048His
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/66 9456/11725 9144/9192 3048/3063 chr6 75087614
chr6:75089136 A
A
 G
G
 3 a0009
a0019
a0022
a0009
a0019
a0022
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 missense_variant MODERATE c.8980T>C
c.8980T>C
 p.Ser2994Pro
p.Ser2994Pro
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/66 9292/11725 8980/9192 2994/3063 chr6 75089136
chr6:75106428 A
A
 C
C
 1 a0018
a0018
 1 HG02615.hp2
HG02615.hp2
 missense_variant MODERATE c.8169T>G
c.8169T>G
 p.Ile2723Met
p.Ile2723Met
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/66 8481/11725 8169/9192 2723/3063 chr6 75106428
chr6:75109128 T
T
 C
C
 2 a0029
a0030
a0029
a0030
 2 HG02647.hp1
HG02717.hp2
HG02647.hp1
HG02717.hp2
 missense_variant MODERATE c.7990A>G
c.7990A>G
 p.Ile2664Val
p.Ile2664Val
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/66 8302/11725 7990/9192 2664/3063 chr6 75109128
chr6:75113656 T
T
 C
C
 5 a0005
a0006
a0009
others(2): Show 
a0005
a0006
a0009
a0019
a0022
 14 HG01069.hp1
HG01071.hp1
HG02559.hp1
others(11): Show 
HG01069.hp1
HG01071.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 missense_variant MODERATE c.7786A>G
c.7786A>G
 p.Ile2596Val
p.Ile2596Val
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 50/66 8098/11725 7786/9192 2596/3063 chr6 75113656
chr6:75115791 G
G
 A
A
 1 a0029
a0029
 1 HG02647.hp1
HG02647.hp1
 missense_variant MODERATE c.7690C>T
c.7690C>T
 p.Pro2564Ser
p.Pro2564Ser
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/66 8002/11725 7690/9192 2564/3063 chr6 75115791
chr6:75123971 C
C
 T
T
 2 a0016
a0017
a0016
a0017
 2 HG02559.hp2
HG03540.hp1
HG02559.hp2
HG03540.hp1
 missense_variant MODERATE c.6848G>A
c.6848G>A
 p.Gly2283Glu
p.Gly2283Glu
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 42/66 7160/11725 6848/9192 2283/3063 chr6 75123971
chr6:75124338 T
T
 C
C
 1 a0030
a0030
 1 HG02717.hp2
HG02717.hp2
 missense_variant MODERATE c.6641A>G
c.6641A>G
 p.Gln2214Arg
p.Gln2214Arg
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 41/66 6953/11725 6641/9192 2214/3063 chr6 75124338
chr6:75125144 G
G
 A
A
 2 a0015
a0021
a0015
a0021
 2 HG03704.hp1
NA20752.hp1
HG03704.hp1
NA20752.hp1
 missense_variant MODERATE c.6590C>T
c.6590C>T
 p.Thr2197Ile
p.Thr2197Ile
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 40/66 6902/11725 6590/9192 2197/3063 chr6 75125144
chr6:75125255 T
T
 A
A
 1 a0023
a0023
 1 HG02735.hp2
HG02735.hp2
 missense_variant MODERATE c.6479A>T
c.6479A>T
 p.Glu2160Val
p.Glu2160Val
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 40/66 6791/11725 6479/9192 2160/3063 chr6 75125255
chr6:75130857 C
C
 T
T
 1 a0020
a0020
 1 NA19240.hp1
NA19240.hp1
 missense_variant MODERATE c.6062G>A
c.6062G>A
 p.Arg2021Gln
p.Arg2021Gln
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 36/66 6374/11725 6062/9192 2021/3063 chr6 75130857
chr6:75138453 C
C
 T
T
 6 a0006
a0007
a0008
others(3): Show 
a0006
a0007
a0008
a0009
a0024
a0027
 12 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(9): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02145.hp1
HG02559.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
 missense_variant MODERATE c.5225G>A
c.5225G>A
 p.Arg1742His
p.Arg1742His
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 29/66 5537/11725 5225/9192 1742/3063 chr6 75138453
chr6:75138465 A
A
 G
G
 12 a0003
a0004
a0006
others(9): Show 
a0003
a0004
a0006
a0007
a0008
a0009
a0020
a0021
a0022
a0023
a0024
a0027
 59 HG00438.hp1
HG00673.hp1
HG01069.hp1
others(56): Show 
HG00438.hp1
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02040.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02735.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18985.hp2
NA18999.hp1
NA19070.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 missense_variant MODERATE c.5213T>C
c.5213T>C
 p.Ile1738Thr
p.Ile1738Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 29/66 5525/11725 5213/9192 1738/3063 chr6 75138465
chr6:75138838 C
C
 T
T
 1 a0014
a0014
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.5081G>A
c.5081G>A
 p.Ser1694Asn
p.Ser1694Asn
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 28/66 5393/11725 5081/9192 1694/3063 chr6 75138838
chr6:75142113 A
A
 C
C
 1 a0013
a0013
 1 HG03579.hp2
HG03579.hp2
 missense_variant MODERATE c.4876T>G
c.4876T>G
 p.Ser1626Ala
p.Ser1626Ala
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/66 5188/11725 4876/9192 1626/3063 chr6 75142113
chr6:75151924 C
C
 T
T
 1 a0024
a0024
 1 HG01109.hp1
HG01109.hp1
 missense_variant MODERATE c.3943G>A
c.3943G>A
 p.Asp1315Asn
p.Asp1315Asn
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/66 4255/11725 3943/9192 1315/3063 chr6 75151924
chr6:75175160 C
C
 T
T
 1 a0012
a0012
 1 HG06807.hp1
HG06807.hp1
 missense_variant MODERATE c.2588G>A
c.2588G>A
 p.Gly863Glu
p.Gly863Glu
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/66 2900/11725 2588/9192 863/3063 chr6 75175160
chr6:75177743 G
G
 A
A
 1 a0027
a0027
 1 HG02145.hp1
HG02145.hp1
 missense_variant MODERATE c.2357C>T
c.2357C>T
 p.Thr786Met
p.Thr786Met
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/66 2669/11725 2357/9192 786/3063 chr6 75177743
chr6:75177825 G
G
 A
A
 1 a0025
a0025
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.2275C>T
c.2275C>T
 p.Pro759Ser
p.Pro759Ser
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/66 2587/11725 2275/9192 759/3063 chr6 75177825
chr6:75181158 T
T
 G
G
 1 a0026
a0026
 1 HG02015.hp2
HG02015.hp2
 missense_variant MODERATE c.1945A>C
c.1945A>C
 p.Lys649Gln
p.Lys649Gln
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/66 2257/11725 1945/9192 649/3063 chr6 75181158
chr6:75181206 C
C
 A
A
 1 a0028
a0028
 1 HG03225.hp2
HG03225.hp2
 missense_variant MODERATE c.1897G>T
c.1897G>T
 p.Val633Phe
p.Val633Phe
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/66 2209/11725 1897/9192 633/3063 chr6 75181206
chr6:75183424 G
G
 C
C
 1 a0027
a0027
 1 HG02145.hp1
HG02145.hp1
 missense_variant MODERATE c.1517C>G
c.1517C>G
 p.Ala506Gly
p.Ala506Gly
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/66 1829/11725 1517/9192 506/3063 chr6 75183424
chr6:75189584 T
T
 G
G
 5 a0010
a0011
a0028
others(2): Show 
a0010
a0011
a0028
a0029
a0030
 7 HG01891.hp1
HG02109.hp2
HG02647.hp1
others(4): Show 
HG01891.hp1
HG02109.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03225.hp2
 missense_variant MODERATE c.626A>C
c.626A>C
 p.Lys209Thr
p.Lys209Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 6/66 938/11725 626/9192 209/3063 chr6 75189584

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
chr6:75087596 G
G
 A
A
 2 a0001c0037
a0003c0027
a0001c0037
a0003c0027
 2 HG01928.hp1
HG01975.hp2
HG01928.hp1
HG01975.hp2
 synonymous_variant LOW c.9162C>T
c.9162C>T
 p.Tyr3054Tyr
p.Tyr3054Tyr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/66 9474/11725 9162/9192 3054/3063 chr6 75087596
chr6:75089146 A
A
 G
G
 1 a0029c0052
a0029c0052
 1 HG02647.hp1
HG02647.hp1
 synonymous_variant LOW c.8970T>C
c.8970T>C
 p.Gly2990Gly
p.Gly2990Gly
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/66 9282/11725 8970/9192 2990/3063 chr6 75089146
chr6:75090126 T
T
 C
C
 1 a0001c0038
a0001c0038
 1 NA18966.hp1
NA18966.hp1
 synonymous_variant LOW c.8925A>G
c.8925A>G
 p.Gly2975Gly
p.Gly2975Gly
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 63/66 9237/11725 8925/9192 2975/3063 chr6 75090126
chr6:75113300 C
C
 G
G
 1 a0001c0035
a0001c0035
 1 NA21309.hp2
NA21309.hp2
 synonymous_variant LOW c.7854G>C
c.7854G>C
 p.Thr2618Thr
p.Thr2618Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/66 8166/11725 7854/9192 2618/3063 chr6 75113300
chr6:75119098 C
C
 A
A
 9 a0001c0041
a0001c0046
a0003c0021
others(6): Show 
a0001c0041
a0001c0046
a0003c0021
a0003c0032
a0008c0011
a0011c0051
a0024c0020
a0027c0018
a0028c0053
 10 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 synonymous_variant LOW c.7299G>T
c.7299G>T
 p.Thr2433Thr
p.Thr2433Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/66 7611/11725 7299/9192 2433/3063 chr6 75119098
chr6:75119420 C
C
 T
T
 1 a0001c0039
a0001c0039
 1 HG01261.hp1
HG01261.hp1
 synonymous_variant LOW c.7140G>A
c.7140G>A
 p.Thr2380Thr
p.Thr2380Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 45/66 7452/11725 7140/9192 2380/3063 chr6 75119420
chr6:75126367 T
T
 A
A
 2 a0005c0008
a0005c0016
a0005c0008
a0005c0016
 4 HG02818.hp2
HG02886.hp2
HG03195.hp1
others(1): Show 
HG02818.hp2
HG02886.hp2
HG03195.hp1
NA18522.hp1
 synonymous_variant LOW c.6444A>T
c.6444A>T
 p.Ile2148Ile
p.Ile2148Ile
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 39/66 6756/11725 6444/9192 2148/3063 chr6 75126367
chr6:75130103 T
T
 G
G
 6 a0003c0021
a0008c0011
a0011c0051
others(3): Show 
a0003c0021
a0008c0011
a0011c0051
a0024c0020
a0027c0018
a0028c0053
 7 HG01109.hp1
HG02145.hp1
HG02723.hp2
others(4): Show 
HG01109.hp1
HG02145.hp1
HG02723.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 synonymous_variant LOW c.6198A>C
c.6198A>C
 p.Pro2066Pro
p.Pro2066Pro
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/66 6510/11725 6198/9192 2066/3063 chr6 75130103
chr6:75132006 A
A
 T
T
 40 a0001c0001
a0001c0019
a0001c0022
others(37): Show 
a0001c0001
a0001c0019
a0001c0022
a0001c0035
a0001c0037
a0001c0038
a0001c0043
a0001c0045
a0002c0002
a0002c0023
a0002c0054
a0003c0003
a0003c0021
a0003c0027
a0004c0004
a0005c0008
a0005c0013
a0005c0016
a0006c0007
a0006c0026
a0007c0009
a0008c0011
a0009c0010
a0010c0014
a0011c0049
a0011c0051
a0012c0015
a0013c0024
a0014c0025
a0016c0044
a0017c0034
a0018c0036
a0022c0028
a0023c0029
a0024c0020
a0025c0047
a0026c0048
a0027c0018
a0028c0053
a0030c0050
 180 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(177): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.5871T>A
c.5871T>A
 p.Ala1957Ala
p.Ala1957Ala
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 35/66 6183/11725 5871/9192 1957/3063 chr6 75132006
chr6:75148370 C
C
 A
A
 1 a0028c0053
a0028c0053
 1 HG03225.hp2
HG03225.hp2
 synonymous_variant LOW c.4275G>T
c.4275G>T
 p.Gly1425Gly
p.Gly1425Gly
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 22/66 4587/11725 4275/9192 1425/3063 chr6 75148370
chr6:75148459 G
G
 T
T
 2 a0001c0022
a0002c0023
a0001c0022
a0002c0023
 2 HG03516.hp2
HG06807.hp2
HG03516.hp2
HG06807.hp2
 synonymous_variant LOW c.4186C>A
c.4186C>A
 p.Arg1396Arg
p.Arg1396Arg
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 22/66 4498/11725 4186/9192 1396/3063 chr6 75148459
chr6:75151247 T
T
 A
A
 1 a0001c0043
a0001c0043
 1 HG02523.hp1
HG02523.hp1
 synonymous_variant LOW c.4041A>T
c.4041A>T
 p.Ala1347Ala
p.Ala1347Ala
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/66 4353/11725 4041/9192 1347/3063 chr6 75151247
chr6:75152397 G
G
 A
A
 3 a0001c0045
a0001c0046
a0016c0044
a0001c0045
a0001c0046
a0016c0044
 3 HG02818.hp1
HG02886.hp1
HG03540.hp1
HG02818.hp1
HG02886.hp1
HG03540.hp1
 synonymous_variant LOW c.3651C>T
c.3651C>T
 p.Thr1217Thr
p.Thr1217Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 18/66 3963/11725 3651/9192 1217/3063 chr6 75152397
chr6:75165718 A
A
 G
G
 6 a0003c0021
a0006c0007
a0007c0009
others(3): Show 
a0003c0021
a0006c0007
a0007c0009
a0008c0011
a0009c0010
a0024c0020
 11 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(8): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp2
 synonymous_variant LOW c.2772T>C
c.2772T>C
 p.Tyr924Tyr
p.Tyr924Tyr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/66 3084/11725 2772/9192 924/3063 chr6 75165718
chr6:75175267 C
C
 T
T
 2 a0001c0019
a0025c0047
a0001c0019
a0025c0047
 2 HG03195.hp2
NA19030.hp1
HG03195.hp2
NA19030.hp1
 synonymous_variant LOW c.2481G>A
c.2481G>A
 p.Thr827Thr
p.Thr827Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/66 2793/11725 2481/9192 827/3063 chr6 75175267
chr6:75181017 A
A
 G
G
 2 a0002c0017
a0005c0016
a0002c0017
a0005c0016
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 synonymous_variant LOW c.2086T>C
c.2086T>C
 p.Leu696Leu
p.Leu696Leu
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/66 2398/11725 2086/9192 696/3063 chr6 75181017
chr6:75181096 C
C
 T
T
 2 a0002c0017
a0005c0016
a0002c0017
a0005c0016
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 synonymous_variant LOW c.2007G>A
c.2007G>A
 p.Ala669Ala
p.Ala669Ala
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/66 2319/11725 2007/9192 669/3063 chr6 75181096
chr6:75183390 T
T
 C
C
 2 a0002c0017
a0005c0016
a0002c0017
a0005c0016
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 synonymous_variant LOW c.1551A>G
c.1551A>G
 p.Thr517Thr
p.Thr517Thr
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/66 1863/11725 1551/9192 517/3063 chr6 75183390
chr6:75188525 A
A
 C
C
 4 a0002c0017
a0005c0016
a0012c0015
others(1): Show 
a0002c0017
a0005c0016
a0012c0015
a0027c0018
 4 HG02145.hp1
HG02976.hp1
HG03195.hp1
others(1): Show 
HG02145.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 synonymous_variant LOW c.834T>G
c.834T>G
 p.Ala278Ala
p.Ala278Ala
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/66 1146/11725 834/9192 278/3063 chr6 75188525
chr6:75189613 T
T
 C
C
 1 a0002c0054
a0002c0054
 1 HG03486.hp2
HG03486.hp2
 synonymous_variant LOW c.597A>G
c.597A>G
 p.Gln199Gln
p.Gln199Gln
 COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 6/66 909/11725 597/9192 199/3063 chr6 75189613

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
chr6:75084399 A
A
 C
C
 1 a0004c0004t0018
a0004c0004t0018
 1 HG02145.hp2
HG02145.hp2
 3_prime_UTR_variant MODIFIER c.*2148T>G
c.*2148T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 2148 chr6 75084399
chr6:75084521 C
C
 T
T
 1 a0020c0030t0020
a0020c0030t0020
 1 NA19240.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*2026G>A
c.*2026G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 2026 chr6 75084521
chr6:75084627 T
T
 G
G
 1 a0001c0001t0019
a0001c0001t0019
 1 HG02083.hp1
HG02083.hp1
 3_prime_UTR_variant MODIFIER c.*1920A>C
c.*1920A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1920 chr6 75084627
chr6:75084674 A
A
 T
T
 1 a0002c0006t0014
a0002c0006t0014
 1 HG02717.hp1
HG02717.hp1
 3_prime_UTR_variant MODIFIER c.*1873T>A
c.*1873T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1873 chr6 75084674
chr6:75084993 G
G
 A
A
 12 a0001c0001t0021
a0001c0005t0005
a0001c0019t0005
others(9): Show 
a0001c0001t0021
a0001c0005t0005
a0001c0019t0005
a0002c0023t0005
a0006c0007t0005
a0009c0010t0005
a0010c0014t0005
a0018c0036t0005
a0019c0040t0005
a0020c0030t0020
a0022c0028t0005
a0025c0047t0005
 14 HG00741.hp1
HG01069.hp1
HG01071.hp1
others(11): Show 
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG02109.hp2
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02965.hp1
HG03098.hp1
HG03195.hp2
HG03486.hp1
HG03516.hp2
NA19030.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*1554C>T
c.*1554C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1554 chr6 75084993
chr6:75085406 G
G
 GCA
GCA
 3 a0001c0001t0004
a0001c0038t0004
a0003c0003t0004
a0001c0001t0004
a0001c0038t0004
a0003c0003t0004
 15 HG00408.hp1
HG01261.hp2
HG01496.hp2
others(12): Show 
HG00408.hp1
HG01261.hp2
HG01496.hp2
HG02080.hp1
HG02735.hp1
HG04204.hp2
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
 3_prime_UTR_variant MODIFIER c.*1139_*1140dupTG
c.*1139_*1140dupTG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1140 chr6 75085406
chr6:75085406 G
G
 GCACA
GCACA
 22 a0001c0001t0001
a0001c0001t0019
a0001c0001t0022
others(19): Show 
a0001c0001t0001
a0001c0001t0019
a0001c0001t0022
a0001c0005t0001
a0001c0022t0001
a0001c0037t0001
a0001c0039t0001
a0001c0043t0001
a0002c0002t0001
a0002c0002t0008
a0003c0003t0001
a0003c0027t0009
a0003c0031t0001
a0004c0004t0001
a0004c0004t0017
a0004c0004t0018
a0004c0012t0001
a0012c0015t0009
a0014c0025t0001
a0023c0029t0001
a0026c0048t0001
a0029c0052t0008
 110 HG00408.hp2
HG00438.hp2
HG00621.hp1
others(107): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1137_*1140dupTGTG
c.*1137_*1140dupTGTG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1140 chr6 75085406
chr6:75085406 G
G
 GCACACA
GCACACA
 25 a0001c0001t0003
a0001c0001t0010
a0001c0035t0003
others(22): Show 
a0001c0001t0003
a0001c0001t0010
a0001c0035t0003
a0001c0041t0007
a0001c0045t0003
a0001c0046t0007
a0002c0054t0003
a0003c0003t0003
a0003c0003t0007
a0003c0032t0003
a0004c0004t0003
a0005c0008t0006
a0005c0013t0006
a0005c0016t0006
a0006c0007t0006
a0006c0026t0006
a0008c0011t0007
a0011c0049t0003
a0011c0051t0007
a0013c0024t0003
a0017c0034t0006
a0024c0020t0007
a0027c0018t0007
a0028c0053t0007
a0030c0050t0010
 40 HG01109.hp1
HG01891.hp1
HG01891.hp2
others(37): Show 
HG01109.hp1
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02145.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp2
NA19240.hp2
NA20300.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1135_*1140dupTGTG
others(2): Show 
c.*1135_*1140dupTGTGTG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1140 chr6 75085406
chr6:75085406 G
G
 GCACACAC
others(1): Show 
GCACACACA
 14 a0001c0001t0021
a0001c0005t0005
a0001c0019t0005
others(11): Show 
a0001c0001t0021
a0001c0005t0005
a0001c0019t0005
a0002c0023t0005
a0003c0003t0016
a0006c0007t0005
a0008c0011t0012
a0009c0010t0005
a0010c0014t0005
a0018c0036t0005
a0019c0040t0005
a0020c0030t0020
a0022c0028t0005
a0025c0047t0005
 16 HG00741.hp1
HG01069.hp1
HG01071.hp1
others(13): Show 
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG02109.hp2
HG02572.hp2
HG02615.hp2
HG02723.hp1
HG02965.hp1
HG03098.hp1
HG03195.hp2
HG03225.hp1
HG03486.hp1
HG03516.hp2
HG03579.hp1
NA19030.hp1
NA19240.hp1
 3_prime_UTR_variant MODIFIER c.*1133_*1140dupTGTG
others(4): Show 
c.*1133_*1140dupTGTGTGTG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1140 chr6 75085406
chr6:75085538 A
A
 T
T
 1 a0004c0004t0017
a0004c0004t0017
 1 HG02129.hp2
HG02129.hp2
 3_prime_UTR_variant MODIFIER c.*1009T>A
c.*1009T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 1009 chr6 75085538
chr6:75085556 TA
TA
 T
T
 20 a0001c0041t0007
a0001c0046t0007
a0002c0002t0008
others(17): Show 
a0001c0041t0007
a0001c0046t0007
a0002c0002t0008
a0003c0003t0007
a0003c0003t0016
a0003c0027t0009
a0005c0008t0006
a0005c0013t0006
a0005c0016t0006
a0006c0007t0006
a0006c0026t0006
a0008c0011t0007
a0008c0011t0012
a0011c0051t0007
a0012c0015t0009
a0017c0034t0006
a0024c0020t0007
a0027c0018t0007
a0028c0053t0007
a0029c0052t0008
 24 HG01109.hp1
HG01109.hp2
HG01975.hp2
others(21): Show 
HG01109.hp1
HG01109.hp2
HG01975.hp2
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*990delT
c.*990delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 990 chr6 75085556
chr6:75085565 A
A
 T
T
 2 a0002c0006t0014
a0016c0044t0015
a0002c0006t0014
a0016c0044t0015
 2 HG02717.hp1
HG03540.hp1
HG02717.hp1
HG03540.hp1
 3_prime_UTR_variant MODIFIER c.*982T>A
c.*982T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 982 chr6 75085565
chr6:75085756 T
T
 C
C
 10 a0001c0001t0003
a0001c0001t0021
a0001c0035t0003
others(7): Show 
a0001c0001t0003
a0001c0001t0021
a0001c0035t0003
a0001c0045t0003
a0002c0054t0003
a0003c0003t0003
a0003c0032t0003
a0004c0004t0003
a0011c0049t0003
a0013c0024t0003
 21 HG01891.hp1
HG01891.hp2
HG02109.hp1
others(18): Show 
HG01891.hp1
HG01891.hp2
HG02109.hp1
HG02486.hp2
HG02572.hp1
HG02615.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
NA18906.hp1
NA18906.hp2
NA19240.hp2
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*791A>G
c.*791A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 791 chr6 75085756
chr6:75085796 A
A
 T
T
 1 a0004c0012t0011
a0004c0012t0011
 1 HG03471.hp2
HG03471.hp2
 3_prime_UTR_variant MODIFIER c.*751T>A
c.*751T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 751 chr6 75085796
chr6:75086246 G
G
 A
A
 1 a0001c0001t0022
a0001c0001t0022
 1 NA20300.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*301C>T
c.*301C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 301 chr6 75086246
chr6:75086303 A
A
 C
C
 2 a0002c0006t0014
a0016c0044t0015
a0002c0006t0014
a0016c0044t0015
 2 HG02717.hp1
HG03540.hp1
HG02717.hp1
HG03540.hp1
 3_prime_UTR_variant MODIFIER c.*244T>G
c.*244T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 244 chr6 75086303
chr6:75086337 A
A
 C
C
 12 a0001c0041t0007
a0001c0046t0007
a0002c0002t0008
others(9): Show 
a0001c0041t0007
a0001c0046t0007
a0002c0002t0008
a0003c0003t0007
a0003c0021t0013
a0008c0011t0007
a0008c0011t0012
a0011c0051t0007
a0024c0020t0007
a0027c0018t0007
a0028c0053t0007
a0029c0052t0008
 12 HG01109.hp1
HG01109.hp2
HG02145.hp1
others(9): Show 
HG01109.hp1
HG01109.hp2
HG02145.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03209.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 3_prime_UTR_variant MODIFIER c.*210T>G
c.*210T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 66/66 210 chr6 75086337
chr6:75205972 G
G
 T
T
 1 a0004c0012t0011
a0004c0012t0011
 1 HG03471.hp2
HG03471.hp2
 5_prime_UTR_variant MODIFIER c.-231C>A
c.-231C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/66 3180 chr6 75205972

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
chr6:75086648 G
G
 GTA
GTA
 28 a0001c0001t0001g0103
a0001c0001t0001g0159
a0001c0001t0001g0160
others(25): Show 
a0001c0001t0001g0103
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0165
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0082
a0001c0041t0007g0146
a0002c0006t0002g0175
a0002c0054t0003g0193
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0004g0049
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0011c0049t0003g0166
a0013c0024t0003g0118
a0017c0034t0006g0200
a0029c0052t0008g0198
 29 HG01891.hp1
HG02040.hp2
HG02074.hp1
others(26): Show 
HG01891.hp1
HG02040.hp2
HG02074.hp1
HG02559.hp1
HG02559.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03195.hp1
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp1
NA18906.hp1
NA18968.hp1
NA20300.hp2
 intron_variant MODIFIER c.9182-93_9182-92dup
others(2): Show 
c.9182-93_9182-92dupTA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086648
chr6:75086648 G
G
 GTATA
GTATA
 3 a0001c0035t0003g0101
a0003c0003t0003g0034
a0003c0003t0003g0177
a0001c0035t0003g0101
a0003c0003t0003g0034
a0003c0003t0003g0177
 3 HG02572.hp1
NA21309.hp1
NA21309.hp2
HG02572.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.9182-95_9182-92dup
others(4): Show 
c.9182-95_9182-92dupTATA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086648
chr6:75086648 G
G
 GTATATA
GTATATA
 2 a0001c0001t0021g0201
a0002c0002t0008g0169
a0001c0001t0021g0201
a0002c0002t0008g0169
 2 HG01109.hp2
HG03486.hp1
HG01109.hp2
HG03486.hp1
 intron_variant MODIFIER c.9182-97_9182-92dup
others(6): Show 
c.9182-97_9182-92dupTATATA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086648
chr6:75086648 GTA
GTA
 G
G
 103 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(100): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0162
a0001c0001t0004g0014
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0009c0010t0005g0045
a0009c0010t0005g0127
a0014c0025t0001g0069
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0026c0048t0001g0117
 104 HG00408.hp2
HG00438.hp2
HG00621.hp1
others(101): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02965.hp1
HG02976.hp2
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18982.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.9182-93_9182-92del
others(2): Show 
c.9182-93_9182-92delTA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086648
chr6:75086648 GTATA
GTATA
 G
G
 2 a0001c0001t0001g0046
a0012c0015t0009g0027
a0001c0001t0001g0046
a0012c0015t0009g0027
 2 HG01069.hp2
HG06807.hp1
HG01069.hp2
HG06807.hp1
 intron_variant MODIFIER c.9182-95_9182-92del
others(4): Show 
c.9182-95_9182-92delTATA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086648
chr6:75086741 T
T
 C
C
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.9182-184A>G
c.9182-184A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086741
chr6:75086758 G
G
 T
T
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0017c0034t0006g0200
 10 HG02559.hp1
HG02559.hp2
HG02630.hp1
others(7): Show 
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.9182-201C>A
c.9182-201C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086758
chr6:75086948 C
C
 T
T
 1 a0001c0005t0005g0129
a0001c0005t0005g0129
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.9182-391G>A
c.9182-391G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75086948
chr6:75087040 C
C
 G
G
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0017c0034t0006g0200
 10 HG02559.hp1
HG02559.hp2
HG02630.hp1
others(7): Show 
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.9182-483G>C
c.9182-483G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75087040
chr6:75087072 A
A
 T
T
 14 a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
others(11): Show 
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0021g0201
a0001c0035t0003g0101
a0002c0054t0003g0193
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0177
a0003c0003t0016g0172
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
 15 HG01891.hp1
HG02615.hp1
HG02896.hp1
others(12): Show 
HG01891.hp1
HG02615.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18906.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.9181+505T>A
c.9181+505T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75087072
chr6:75087191 A
A
 T
T
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0017c0034t0006g0200
 10 HG02559.hp1
HG02559.hp2
HG02630.hp1
others(7): Show 
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.9181+386T>A
c.9181+386T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75087191
chr6:75087281 GA
GA
 G
G
 199 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(196): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0002g0175
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 203 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(200): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.9181+295delT
c.9181+295delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75087281
chr6:75087416 T
T
 C
C
 2 a0001c0001t0004g0013
a0001c0001t0004g0183
a0001c0001t0004g0013
a0001c0001t0004g0183
 2 NA18962.hp1
NA18979.hp1
NA18962.hp1
NA18979.hp1
 intron_variant MODIFIER c.9181+161A>G
c.9181+161A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 65/65 chr6 75087416
chr6:75087833 A
A
 G
G
 27 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0103
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0004c0004t0001g0173
 28 HG00673.hp2
HG01261.hp2
HG01496.hp2
others(25): Show 
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03942.hp1
HG04115.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.9011-86T>C
c.9011-86T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75087833
chr6:75087876 T
T
 A
A
 1 a0019c0040t0005g0154
a0019c0040t0005g0154
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.9011-129A>T
c.9011-129A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75087876
chr6:75088084 T
T
 C
C
 57 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0103
others(54): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0017c0034t0006g0200
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 58 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(55): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.9011-337A>G
c.9011-337A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088084
chr6:75088233 CT
CT
 C
C
 4 a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
others(1): Show 
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.9011-487delA
c.9011-487delA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088233
chr6:75088458 CA
CA
 C
C
 27 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 28 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(25): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03491.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.9010+647delT
c.9010+647delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088458
chr6:75088503 A
A
 AAGGG
AAGGG
 4 a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
others(1): Show 
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.9010+599_9010+602d
others(6): Show 
c.9010+599_9010+602dupCCCT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088503
chr6:75088713 A
A
 G
G
 27 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 28 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(25): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03491.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.9010+393T>C
c.9010+393T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088713
chr6:75088739 A
A
 G
G
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.9010+367T>C
c.9010+367T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088739
chr6:75088816 C
C
 T
T
 1 a0001c0043t0001g0078
a0001c0043t0001g0078
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.9010+290G>A
c.9010+290G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088816
chr6:75088827 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.9010+279G>A
c.9010+279G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088827
chr6:75088860 G
G
 C
C
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.9010+246C>G
c.9010+246C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088860
chr6:75088873 C
C
 T
T
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0017c0034t0006g0200
 10 HG02559.hp1
HG02559.hp2
HG02630.hp1
others(7): Show 
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.9010+233G>A
c.9010+233G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75088873
chr6:75089006 C
C
 A
A
 185 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(182): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 189 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(186): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.9010+100G>T
c.9010+100G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 64/65 chr6 75089006
chr6:75089611 G
G
 A
A
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0017c0034t0006g0200
 10 HG02559.hp1
HG02559.hp2
HG02630.hp1
others(7): Show 
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8942-437C>T
c.8942-437C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 63/65 chr6 75089611
chr6:75089686 A
A
 G
G
 1 a0019c0040t0005g0154
a0019c0040t0005g0154
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.8941+424T>C
c.8941+424T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 63/65 chr6 75089686
chr6:75089709 G
G
 A
A
 4 a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
others(1): Show 
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.8941+401C>T
c.8941+401C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 63/65 chr6 75089709
chr6:75089867 A
A
 G
G
 1 a0019c0040t0005g0154
a0019c0040t0005g0154
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.8941+243T>C
c.8941+243T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 63/65 chr6 75089867
chr6:75089926 A
A
 G
G
 5 a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
others(2): Show 
a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 5 HG01069.hp1
HG01071.hp1
HG02572.hp2
others(2): Show 
HG01069.hp1
HG01071.hp1
HG02572.hp2
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.8941+184T>C
c.8941+184T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 63/65 chr6 75089926
chr6:75089964 T
T
 G
G
 1 a0002c0002t0001g0008
a0002c0002t0001g0008
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.8941+146A>C
c.8941+146A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 63/65 chr6 75089964
chr6:75090358 A
A
 C
C
 2 a0001c0001t0021g0201
a0003c0003t0003g0177
a0001c0001t0021g0201
a0003c0003t0003g0177
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.8753-60T>G
c.8753-60T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75090358
chr6:75090409 T
T
 G
G
 2 a0002c0002t0001g0010
a0002c0002t0001g0080
a0002c0002t0001g0010
a0002c0002t0001g0080
 2 HG00438.hp2
NA19066.hp2
HG00438.hp2
NA19066.hp2
 intron_variant MODIFIER c.8753-111A>C
c.8753-111A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75090409
chr6:75090466 G
G
 A
A
 1 a0003c0032t0003g0029
a0003c0032t0003g0029
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.8753-168C>T
c.8753-168C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75090466
chr6:75090467 A
A
 C
C
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.8753-169T>G
c.8753-169T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75090467
chr6:75090618 A
A
 C
C
 9 a0002c0002t0001g0012
a0002c0002t0001g0020
a0002c0002t0001g0021
others(6): Show 
a0002c0002t0001g0012
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0089
a0002c0002t0001g0113
a0002c0002t0001g0191
a0004c0004t0001g0108
 9 HG00621.hp1
HG01975.hp1
HG02074.hp2
others(6): Show 
HG00621.hp1
HG01975.hp1
HG02074.hp2
HG02080.hp2
HG02148.hp1
NA18946.hp2
NA18962.hp2
NA18994.hp2
NA19091.hp1
 intron_variant MODIFIER c.8753-320T>G
c.8753-320T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75090618
chr6:75090627 A
A
 G
G
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8753-329T>C
c.8753-329T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75090627
chr6:75090837 C
C
 T
T
 1 a0002c0006t0002g0119
a0002c0006t0002g0119
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.8752+486G>A
c.8752+486G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75090837
chr6:75091077 G
G
 A
A
 182 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(179): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 186 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(183): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8752+246C>T
c.8752+246C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75091077
chr6:75091164 C
C
 T
T
 1 a0001c0039t0001g0140
a0001c0039t0001g0140
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.8752+159G>A
c.8752+159G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75091164
chr6:75091215 T
T
 C
C
 50 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(47): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0017c0034t0006g0200
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 51 HG00408.hp1
HG00673.hp2
HG01109.hp1
others(48): Show 
HG00408.hp1
HG00673.hp2
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8752+108A>G
c.8752+108A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 62/65 chr6 75091215
chr6:75091544 A
A
 T
T
 10 a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
others(7): Show 
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 10 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.8650-19T>A
c.8650-19T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75091544
chr6:75091583 T
T
 C
C
 5 a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
others(2): Show 
a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 5 HG01069.hp1
HG01071.hp1
HG02572.hp2
others(2): Show 
HG01069.hp1
HG01071.hp1
HG02572.hp2
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.8650-58A>G
c.8650-58A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75091583
chr6:75091719 T
T
 TTC
TTC
 2 a0001c0001t0003g0155
a0013c0024t0003g0118
a0001c0001t0003g0155
a0013c0024t0003g0118
 2 HG02965.hp2
HG03579.hp2
HG02965.hp2
HG03579.hp2
 intron_variant MODIFIER c.8650-196_8650-195d
others(4): Show 
c.8650-196_8650-195dupGA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75091719
chr6:75091817 A
A
 G
G
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.8650-292T>C
c.8650-292T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75091817
chr6:75091823 C
C
 CA
CA
 27 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 28 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(25): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03491.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8650-299dupT
c.8650-299dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75091823
chr6:75092109 T
T
 A
A
 165 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(162): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 168 HG00408.hp1
HG00408.hp2
HG00438.hp2
others(165): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8650-584A>T
c.8650-584A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75092109
chr6:75092583 T
T
 TCAGGTAA
others(15): Show 
TCAGGTAATGTCCCATACCAAAC
 51 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(48): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0017c0034t0006g0200
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 52 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(49): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8650-1059_8650-105
others(26): Show 
c.8650-1059_8650-1058insGTTTGGTATGGGACATTACCTG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75092583
chr6:75092755 C
C
 T
T
 51 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(48): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0017c0034t0006g0200
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 52 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(49): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8650-1230G>A
c.8650-1230G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75092755
chr6:75092791 T
T
 C
C
 52 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(49): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0017c0034t0006g0200
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 53 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(50): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8650-1266A>G
c.8650-1266A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75092791
chr6:75093339 T
T
 C
C
 4 a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
others(1): Show 
a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02572.hp2
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.8649+1769A>G
c.8649+1769A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75093339
chr6:75093603 G
G
 A
A
 4 a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
others(1): Show 
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.8649+1505C>T
c.8649+1505C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75093603
chr6:75093676 A
A
 T
T
 1 a0014c0025t0001g0069
a0014c0025t0001g0069
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8649+1432T>A
c.8649+1432T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75093676
chr6:75094081 T
T
 G
G
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8649+1027A>C
c.8649+1027A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094081
chr6:75094108 C
C
 G
G
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.8649+1000G>C
c.8649+1000G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094108
chr6:75094108 C
C
 T
T
 1 a0001c0001t0001g0055
a0001c0001t0001g0055
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.8649+1000G>A
c.8649+1000G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094108
chr6:75094115 CCTT
CCTT
 C
C
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8649+990_8649+992d
others(5): Show 
c.8649+990_8649+992delAAG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094115
chr6:75094207 C
C
 CT
CT
 4 a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
others(1): Show 
a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
a0016c0044t0015g0135
 5 HG02451.hp2
HG02895.hp1
HG02897.hp1
others(2): Show 
HG02451.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.8649+900dupA
c.8649+900dupA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094207
chr6:75094360 CA
CA
 C
C
 51 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(48): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0017c0034t0006g0200
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 52 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(49): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8649+747delT
c.8649+747delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094360
chr6:75094554 C
C
 T
T
 1 a0001c0005t0001g0075
a0001c0005t0001g0075
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.8649+554G>A
c.8649+554G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094554
chr6:75094843 G
G
 A
A
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8649+265C>T
c.8649+265C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094843
chr6:75094862 C
C
 T
T
 11 a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
others(8): Show 
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0035t0003g0101
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0011c0049t0003g0166
a0013c0024t0003g0118
a0020c0030t0020g0202
 12 HG01891.hp1
HG02572.hp1
HG02615.hp1
others(9): Show 
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.8649+246G>A
c.8649+246G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094862
chr6:75094870 C
C
 G
G
 1 a0001c0039t0001g0140
a0001c0039t0001g0140
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.8649+238G>C
c.8649+238G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094870
chr6:75094915 A
A
 G
G
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.8649+193T>C
c.8649+193T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094915
chr6:75094947 T
T
 A
A
 4 a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
others(1): Show 
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.8649+161A>T
c.8649+161A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75094947
chr6:75095067 G
G
 A
A
 55 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(52): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0017c0034t0006g0200
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 56 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(53): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8649+41C>T
c.8649+41C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 60/65 chr6 75095067
chr6:75095378 G
G
 A
A
 2 a0001c0001t0004g0013
a0001c0001t0004g0183
a0001c0001t0004g0013
a0001c0001t0004g0183
 2 NA18962.hp1
NA18979.hp1
NA18962.hp1
NA18979.hp1
 intron_variant MODIFIER c.8578-199C>T
c.8578-199C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095378
chr6:75095401 A
A
 G
G
 5 a0001c0001t0002g0017
a0001c0001t0002g0091
a0002c0002t0001g0071
others(2): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0002c0002t0001g0071
a0002c0002t0001g0086
a0003c0003t0002g0100
 5 HG00438.hp1
HG01975.hp1
HG02148.hp1
others(2): Show 
HG00438.hp1
HG01975.hp1
HG02148.hp1
NA18993.hp1
NA19091.hp2
 intron_variant MODIFIER c.8578-222T>C
c.8578-222T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095401
chr6:75095474 A
A
 G
G
 3 a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 3 HG01069.hp1
HG01071.hp1
HG02965.hp1
HG01069.hp1
HG01071.hp1
HG02965.hp1
 intron_variant MODIFIER c.8578-295T>C
c.8578-295T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095474
chr6:75095586 C
C
 T
T
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0017c0034t0006g0200
 10 HG02559.hp1
HG02559.hp2
HG02630.hp1
others(7): Show 
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8578-407G>A
c.8578-407G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095586
chr6:75095623 C
C
 CA
CA
 8 a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
others(5): Show 
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0028c0053t0007g0199
 8 HG01109.hp1
HG02109.hp1
HG02723.hp2
others(5): Show 
HG01109.hp1
HG02109.hp1
HG02723.hp2
HG02818.hp1
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.8578-445dupT
c.8578-445dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095623
chr6:75095623 CA
CA
 C
C
 11 a0001c0001t0001g0074
a0001c0001t0004g0013
a0001c0001t0004g0090
others(8): Show 
a0001c0001t0001g0074
a0001c0001t0004g0013
a0001c0001t0004g0090
a0001c0001t0004g0183
a0001c0001t0021g0201
a0001c0005t0005g0129
a0001c0038t0004g0023
a0003c0003t0003g0177
a0003c0003t0016g0172
a0015c0042t0002g0094
a0021c0033t0002g0186
 11 HG00741.hp1
HG02080.hp1
HG03225.hp1
others(8): Show 
HG00741.hp1
HG02080.hp1
HG03225.hp1
HG03486.hp1
HG03704.hp1
NA18962.hp1
NA18966.hp1
NA18979.hp1
NA19090.hp1
NA20752.hp1
NA21309.hp1
 intron_variant MODIFIER c.8578-445delT
c.8578-445delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095623
chr6:75095623 CAA
CAA
 C
C
 49 a0001c0001t0001g0046
a0001c0001t0001g0081
a0001c0001t0001g0103
others(46): Show 
a0001c0001t0001g0046
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0155
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0082
a0001c0001t0004g0105
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0178
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0176
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0002g0175
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0004g0001
a0003c0031t0001g0107
a0004c0004t0001g0173
a0004c0004t0003g0157
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0158
a0005c0013t0006g0147
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0030c0050t0010g0195
 51 HG00408.hp1
HG00438.hp1
HG00673.hp2
others(48): Show 
HG00408.hp1
HG00438.hp1
HG00673.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01261.hp2
HG01496.hp2
HG01975.hp1
HG02004.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02148.hp1
HG02486.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG03471.hp2
HG03516.hp2
HG03579.hp2
HG03942.hp2
HG04115.hp2
HG04199.hp2
HG06807.hp1
NA18747.hp1
NA18944.hp1
NA18945.hp1
NA18948.hp1
NA18952.hp1
NA18968.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18993.hp1
NA18995.hp1
NA18999.hp1
NA19063.hp1
NA19064.hp2
NA19068.hp1
NA19087.hp1
NA19091.hp2
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8578-446_8578-445d
others(4): Show 
c.8578-446_8578-445delTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095623
chr6:75095623 CAAA
CAAA
 C
C
 26 a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0004g0073
others(23): Show 
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0004g0073
a0001c0001t0004g0115
a0001c0001t0010g0171
a0001c0035t0003g0101
a0002c0054t0003g0193
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0004g0049
a0003c0003t0007g0120
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0010c0014t0002g0196
a0011c0049t0003g0166
a0016c0044t0015g0135
a0017c0034t0006g0200
a0020c0030t0020g0202
a0029c0052t0008g0198
 27 HG01891.hp1
HG02559.hp1
HG02559.hp2
others(24): Show 
HG01891.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02735.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04204.hp2
NA18522.hp1
NA18906.hp1
NA18984.hp2
NA19030.hp2
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.8578-447_8578-445d
others(5): Show 
c.8578-447_8578-445delTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095623
chr6:75095623 CAAAAAAA
others(3): Show 
CAAAAAAAAAA
 C
C
 2 a0001c0001t0001g0121
a0001c0001t0001g0141
a0001c0001t0001g0121
a0001c0001t0001g0141
 2 NA18944.hp2
NA19090.hp2
NA18944.hp2
NA19090.hp2
 intron_variant MODIFIER c.8578-454_8578-445d
others(12): Show 
c.8578-454_8578-445delTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095623
chr6:75095623 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 99 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(96): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0130
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0162
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0008g0169
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0006c0007t0005g0044
a0010c0014t0005g0197
a0014c0025t0001g0069
a0018c0036t0005g0149
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
 100 HG00408.hp2
HG00438.hp2
HG00621.hp1
others(97): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02976.hp2
HG03195.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp2
NA19030.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8578-455_8578-445d
others(13): Show 
c.8578-455_8578-445delTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095623
chr6:75095650 A
A
 T
T
 3 a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 3 HG01069.hp1
HG01071.hp1
HG02965.hp1
HG01069.hp1
HG01071.hp1
HG02965.hp1
 intron_variant MODIFIER c.8578-471T>A
c.8578-471T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095650
chr6:75095707 T
T
 C
C
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.8578-528A>G
c.8578-528A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095707
chr6:75095916 G
G
 T
T
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8578-737C>A
c.8578-737C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75095916
chr6:75096033 A
A
 G
G
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.8578-854T>C
c.8578-854T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096033
chr6:75096668 C
C
 G
G
 57 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(54): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0017c0034t0006g0200
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 58 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(55): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02559.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8577+585G>C
c.8577+585G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096668
chr6:75096759 A
A
 G
G
 5 a0003c0003t0007g0120
a0009c0010t0005g0045
a0009c0010t0005g0127
others(2): Show 
a0003c0003t0007g0120
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 5 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(2): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
HG03209.hp2
 intron_variant MODIFIER c.8577+494T>C
c.8577+494T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096759
chr6:75096844 C
C
 G
G
 1 a0002c0002t0001g0020
a0002c0002t0001g0020
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.8577+409G>C
c.8577+409G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096844
chr6:75096845 G
G
 A
A
 1 a0023c0029t0001g0026
a0023c0029t0001g0026
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.8577+408C>T
c.8577+408C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096845
chr6:75096895 C
C
 CA
CA
 10 a0001c0001t0001g0009
a0001c0005t0002g0142
a0001c0005t0005g0170
others(7): Show 
a0001c0001t0001g0009
a0001c0005t0002g0142
a0001c0005t0005g0170
a0002c0002t0002g0085
a0002c0002t0002g0176
a0002c0023t0005g0123
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0031t0001g0107
a0004c0012t0001g0052
 10 HG02004.hp1
HG03098.hp1
HG03225.hp1
others(7): Show 
HG02004.hp1
HG03098.hp1
HG03225.hp1
HG03516.hp2
HG04204.hp2
NA18948.hp1
NA18952.hp1
NA18982.hp1
NA19068.hp2
NA19087.hp1
 intron_variant MODIFIER c.8577+357dupT
c.8577+357dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096895
chr6:75096895 C
C
 CAA
CAA
 9 a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0041t0007g0146
others(6): Show 
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0011c0051t0007g0194
a0024c0020t0007g0047
a0028c0053t0007g0199
 9 HG00741.hp1
HG01109.hp1
HG02109.hp1
others(6): Show 
HG00741.hp1
HG01109.hp1
HG02109.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG03225.hp2
NA18522.hp2
NA19063.hp1
 intron_variant MODIFIER c.8577+356_8577+357d
others(4): Show 
c.8577+356_8577+357dupTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096895
chr6:75096895 C
C
 CAAA
CAAA
 18 a0001c0001t0001g0074
a0001c0001t0001g0103
a0001c0001t0001g0116
others(15): Show 
a0001c0001t0001g0074
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0014
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0002c0002t0001g0015
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0004g0001
a0004c0004t0001g0173
a0008c0011t0007g0042
a0008c0011t0012g0041
a0027c0018t0007g0145
 19 HG00673.hp2
HG01261.hp2
HG01496.hp2
others(16): Show 
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02074.hp1
HG02145.hp1
HG02735.hp1
HG02896.hp2
HG03579.hp1
NA18747.hp1
NA18945.hp1
NA18968.hp1
NA18979.hp1
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20905.hp1
 intron_variant MODIFIER c.8577+355_8577+357d
others(5): Show 
c.8577+355_8577+357dupTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096895
chr6:75096895 C
C
 CAAAA
CAAAA
 8 a0001c0001t0001g0059
a0001c0001t0004g0013
a0001c0001t0004g0019
others(5): Show 
a0001c0001t0001g0059
a0001c0001t0004g0013
a0001c0001t0004g0019
a0001c0001t0004g0090
a0001c0038t0004g0023
a0002c0002t0001g0022
a0003c0003t0001g0057
a0003c0003t0001g0180
 8 HG00408.hp1
HG02056.hp1
HG02080.hp1
others(5): Show 
HG00408.hp1
HG02056.hp1
HG02080.hp1
HG03491.hp1
NA18962.hp1
NA18966.hp1
NA18999.hp1
NA20805.hp2
 intron_variant MODIFIER c.8577+354_8577+357d
others(6): Show 
c.8577+354_8577+357dupTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096895
chr6:75096895 CA
CA
 C
C
 102 a0001c0001t0001g0004
a0001c0001t0001g0011
a0001c0001t0001g0018
others(99): Show 
a0001c0001t0001g0004
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0165
a0001c0001t0001g0184
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0162
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0191
a0003c0003t0001g0031
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0017g0099
a0004c0004t0018g0132
a0010c0014t0005g0197
a0011c0049t0003g0166
a0012c0015t0009g0027
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0020c0030t0020g0202
a0023c0029t0001g0026
a0026c0048t0001g0117
 104 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(101): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03195.hp2
HG03471.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18984.hp1
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8577+357delT
c.8577+357delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096895
chr6:75096898 A
A
 AC
AC
 8 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(5): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0026t0006g0168
 8 HG02559.hp1
HG02630.hp1
HG02818.hp2
others(5): Show 
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8577+354_8577+355i
others(3): Show 
c.8577+354_8577+355insG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096898
chr6:75096930 A
A
 T
T
 4 a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
others(1): Show 
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.8577+323T>A
c.8577+323T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 59/65 chr6 75096930
chr6:75097459 C
C
 CA
CA
 4 a0001c0019t0005g0048
a0002c0002t0008g0169
a0018c0036t0005g0149
others(1): Show 
a0001c0019t0005g0048
a0002c0002t0008g0169
a0018c0036t0005g0149
a0025c0047t0005g0192
 4 HG01109.hp2
HG02615.hp2
HG03195.hp2
others(1): Show 
HG01109.hp2
HG02615.hp2
HG03195.hp2
NA19030.hp1
 intron_variant MODIFIER c.8524-154dupT
c.8524-154dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75097459
chr6:75097526 A
A
 T
T
 3 a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
 3 HG02559.hp1
HG03209.hp1
HG03516.hp1
HG02559.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.8524-220T>A
c.8524-220T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75097526
chr6:75097816 C
C
 T
T
 3 a0001c0019t0005g0048
a0018c0036t0005g0149
a0025c0047t0005g0192
a0001c0019t0005g0048
a0018c0036t0005g0149
a0025c0047t0005g0192
 3 HG02615.hp2
HG03195.hp2
NA19030.hp1
HG02615.hp2
HG03195.hp2
NA19030.hp1
 intron_variant MODIFIER c.8524-510G>A
c.8524-510G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75097816
chr6:75097836 T
T
 G
G
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.8524-530A>C
c.8524-530A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75097836
chr6:75097948 A
A
 G
G
 1 a0001c0005t0005g0129
a0001c0005t0005g0129
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.8524-642T>C
c.8524-642T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75097948
chr6:75098250 C
C
 T
T
 1 a0015c0042t0002g0094
a0015c0042t0002g0094
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8524-944G>A
c.8524-944G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098250
chr6:75098281 C
C
 T
T
 1 a0002c0002t0001g0097
a0002c0002t0001g0097
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.8524-975G>A
c.8524-975G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098281
chr6:75098337 ATTTC
ATTTC
 A
A
 4 a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
others(1): Show 
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02723.hp1
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02723.hp1
HG02965.hp1
 intron_variant MODIFIER c.8524-1035_8524-103
others(8): Show 
c.8524-1035_8524-1032delGAAA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098337
chr6:75098385 G
G
 A
A
 9 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(6): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
 9 HG02559.hp1
HG02630.hp1
HG02818.hp2
others(6): Show 
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8524-1079C>T
c.8524-1079C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098385
chr6:75098387 C
C
 T
T
 1 a0001c0039t0001g0140
a0001c0039t0001g0140
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.8524-1081G>A
c.8524-1081G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098387
chr6:75098403 C
C
 T
T
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8524-1097G>A
c.8524-1097G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098403
chr6:75098595 G
G
 A
A
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8524-1289C>T
c.8524-1289C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098595
chr6:75098674 T
T
 C
C
 182 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(179): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 186 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(183): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8524-1368A>G
c.8524-1368A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098674
chr6:75098678 G
G
 A
A
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.8524-1372C>T
c.8524-1372C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098678
chr6:75098681 G
G
 A
A
 1 a0001c0005t0001g0075
a0001c0005t0001g0075
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.8524-1375C>T
c.8524-1375C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098681
chr6:75098756 GTC
GTC
 G
G
 6 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(3): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
 6 HG02630.hp1
HG02818.hp2
HG02886.hp2
others(3): Show 
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8524-1452_8524-145
others(6): Show 
c.8524-1452_8524-1451delGA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098756
chr6:75098952 G
G
 A
A
 1 a0004c0004t0018g0132
a0004c0004t0018g0132
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.8524-1646C>T
c.8524-1646C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098952
chr6:75098952 G
G
 T
T
 28 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(25): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 29 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(26): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03098.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8524-1646C>A
c.8524-1646C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098952
chr6:75098968 G
G
 A
A
 1 a0003c0021t0013g0043
a0003c0021t0013g0043
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.8524-1662C>T
c.8524-1662C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75098968
chr6:75099430 G
G
 T
T
 28 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(25): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 29 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(26): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03098.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8524-2124C>A
c.8524-2124C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75099430
chr6:75099526 T
T
 C
C
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.8523+2074A>G
c.8523+2074A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75099526
chr6:75099542 G
G
 A
A
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8523+2058C>T
c.8523+2058C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75099542
chr6:75099621 AATTTT
AATTTT
 A
A
 13 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(10): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 13 HG01069.hp1
HG01071.hp1
HG02559.hp1
others(10): Show 
HG01069.hp1
HG01071.hp1
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8523+1974_8523+197
others(9): Show 
c.8523+1974_8523+1978delAAAAT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75099621
chr6:75099717 T
T
 C
C
 8 a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
others(5): Show 
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0011c0049t0003g0166
a0013c0024t0003g0118
 9 HG01891.hp1
HG02615.hp1
HG02896.hp1
others(6): Show 
HG01891.hp1
HG02615.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp1
 intron_variant MODIFIER c.8523+1883A>G
c.8523+1883A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75099717
chr6:75099857 A
A
 C
C
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.8523+1743T>G
c.8523+1743T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75099857
chr6:75099881 C
C
 T
T
 9 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(6): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
 9 HG02559.hp1
HG02630.hp1
HG02818.hp2
others(6): Show 
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8523+1719G>A
c.8523+1719G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75099881
chr6:75100295 G
G
 A
A
 7 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0184
others(4): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0184
a0001c0001t0022g0063
a0001c0037t0001g0064
a0002c0002t0001g0097
a0003c0003t0001g0126
 8 HG01928.hp1
HG01978.hp1
HG02015.hp1
others(5): Show 
HG01928.hp1
HG01978.hp1
HG02015.hp1
HG02083.hp2
NA18952.hp2
NA18966.hp2
NA19064.hp1
NA20300.hp1
 intron_variant MODIFIER c.8523+1305C>T
c.8523+1305C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100295
chr6:75100382 G
G
 A
A
 3 a0003c0003t0001g0031
a0003c0003t0001g0167
a0010c0014t0005g0197
a0003c0003t0001g0031
a0003c0003t0001g0167
a0010c0014t0005g0197
 3 HG02109.hp2
HG02630.hp2
HG02647.hp2
HG02109.hp2
HG02630.hp2
HG02647.hp2
 intron_variant MODIFIER c.8523+1218C>T
c.8523+1218C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100382
chr6:75100386 C
C
 G
G
 5 a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
others(2): Show 
a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
a0016c0044t0015g0135
a0017c0034t0006g0200
 6 HG02451.hp2
HG02559.hp2
HG02895.hp1
others(3): Show 
HG02451.hp2
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.8523+1214G>C
c.8523+1214G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100386
chr6:75100406 G
G
 A
A
 13 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(10): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 13 HG01069.hp1
HG01071.hp1
HG02559.hp1
others(10): Show 
HG01069.hp1
HG01071.hp1
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8523+1194C>T
c.8523+1194C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100406
chr6:75100605 C
C
 T
T
 10 a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
others(7): Show 
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0035t0003g0101
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0011c0049t0003g0166
a0013c0024t0003g0118
 11 HG01891.hp1
HG02572.hp1
HG02615.hp1
others(8): Show 
HG01891.hp1
HG02572.hp1
HG02615.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03471.hp1
HG03540.hp2
HG03579.hp2
NA18906.hp1
NA21309.hp2
 intron_variant MODIFIER c.8523+995G>A
c.8523+995G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100605
chr6:75100643 C
C
 T
T
 1 a0002c0002t0001g0102
a0002c0002t0001g0102
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.8523+957G>A
c.8523+957G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100643
chr6:75100689 C
C
 T
T
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8523+911G>A
c.8523+911G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100689
chr6:75100693 C
C
 T
T
 5 a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
others(2): Show 
a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
a0016c0044t0015g0135
a0017c0034t0006g0200
 6 HG02451.hp2
HG02559.hp2
HG02895.hp1
others(3): Show 
HG02451.hp2
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.8523+907G>A
c.8523+907G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100693
chr6:75100878 G
G
 A
A
 142 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(139): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
a0029c0052t0008g0198
 145 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(142): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8523+722C>T
c.8523+722C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100878
chr6:75100885 A
A
 T
T
 2 a0002c0006t0002g0066
a0002c0006t0002g0119
a0002c0006t0002g0066
a0002c0006t0002g0119
 2 HG03942.hp2
HG04199.hp2
HG03942.hp2
HG04199.hp2
 intron_variant MODIFIER c.8523+715T>A
c.8523+715T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100885
chr6:75100927 C
C
 T
T
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.8523+673G>A
c.8523+673G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100927
chr6:75100951 T
T
 C
C
 40 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(37): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 41 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(38): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03098.hp1
HG03225.hp2
HG03491.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8523+649A>G
c.8523+649A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100951
chr6:75100955 A
A
 G
G
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.8523+645T>C
c.8523+645T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75100955
chr6:75101175 G
G
 A
A
 2 a0001c0001t0021g0201
a0003c0003t0003g0177
a0001c0001t0021g0201
a0003c0003t0003g0177
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.8523+425C>T
c.8523+425C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75101175
chr6:75101210 T
T
 C
C
 14 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(11): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 14 HG01069.hp1
HG01071.hp1
HG02559.hp1
others(11): Show 
HG01069.hp1
HG01071.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8523+390A>G
c.8523+390A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75101210
chr6:75101575 T
T
 C
C
 27 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 28 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(25): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03491.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8523+25A>G
c.8523+25A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 58/65 chr6 75101575
chr6:75102141 C
C
 T
T
 13 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(10): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 13 HG01069.hp1
HG01071.hp1
HG02559.hp1
others(10): Show 
HG01069.hp1
HG01071.hp1
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8416-89G>A
c.8416-89G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 56/65 chr6 75102141
chr6:75102164 G
G
 A
A
 126 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(123): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0006c0007t0005g0044
a0007c0009t0002g0003
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0020c0030t0020g0202
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
 129 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(126): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8416-112C>T
c.8416-112C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 56/65 chr6 75102164
chr6:75102338 T
T
 C
C
 2 a0002c0054t0003g0193
a0020c0030t0020g0202
a0002c0054t0003g0193
a0020c0030t0020g0202
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.8415+259A>G
c.8415+259A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 56/65 chr6 75102338
chr6:75102727 A
A
 G
G
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.8320-35T>C
c.8320-35T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75102727
chr6:75102823 C
C
 A
A
 1 a0002c0002t0001g0131
a0002c0002t0001g0131
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.8320-131G>T
c.8320-131G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75102823
chr6:75102873 G
G
 C
C
 2 a0006c0007t0005g0044
a0022c0028t0005g0032
a0006c0007t0005g0044
a0022c0028t0005g0032
 2 HG02572.hp2
HG02965.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.8320-181C>G
c.8320-181C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75102873
chr6:75102947 T
T
 C
C
 1 a0002c0002t0001g0151
a0002c0002t0001g0151
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.8320-255A>G
c.8320-255A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75102947
chr6:75103360 CA
CA
 C
C
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8319+396delT
c.8319+396delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103360
chr6:75103363 A
A
 G
G
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8319+394T>C
c.8319+394T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103363
chr6:75103364 C
C
 T
T
 14 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(11): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 14 HG01069.hp1
HG01071.hp1
HG02559.hp1
others(11): Show 
HG01069.hp1
HG01071.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8319+393G>A
c.8319+393G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103364
chr6:75103366 C
C
 T
T
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8319+391G>A
c.8319+391G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103366
chr6:75103368 G
G
 T
T
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8319+389C>A
c.8319+389C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103368
chr6:75103369 C
C
 G
G
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8319+388G>C
c.8319+388G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103369
chr6:75103370 C
C
 T
T
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8319+387G>A
c.8319+387G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103370
chr6:75103371 A
A
 G
G
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8319+386T>C
c.8319+386T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103371
chr6:75103417 G
G
 C
C
 125 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(122): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0007g0120
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0007c0009t0002g0003
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0020c0030t0020g0202
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
 128 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(125): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8319+340C>G
c.8319+340C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103417
chr6:75103445 C
C
 T
T
 1 a0002c0017t0002g0037
a0002c0017t0002g0037
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.8319+312G>A
c.8319+312G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103445
chr6:75103478 C
C
 G
G
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.8319+279G>C
c.8319+279G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 55/65 chr6 75103478
chr6:75104019 T
T
 G
G
 9 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(6): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
 9 HG02559.hp1
HG02630.hp1
HG02818.hp2
others(6): Show 
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8266-209A>C
c.8266-209A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104019
chr6:75104419 T
T
 G
G
 2 a0001c0001t0021g0201
a0003c0003t0003g0177
a0001c0001t0021g0201
a0003c0003t0003g0177
 2 HG03486.hp1
NA21309.hp1
HG03486.hp1
NA21309.hp1
 intron_variant MODIFIER c.8266-609A>C
c.8266-609A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104419
chr6:75104451 G
G
 T
T
 36 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(33): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 37 HG00408.hp1
HG00673.hp2
HG01109.hp1
others(34): Show 
HG00408.hp1
HG00673.hp2
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8266-641C>A
c.8266-641C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104451
chr6:75104664 G
G
 T
T
 1 a0003c0003t0003g0177
a0003c0003t0003g0177
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.8265+542C>A
c.8265+542C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104664
chr6:75104670 C
C
 T
T
 9 a0001c0001t0001g0055
a0002c0002t0001g0006
a0002c0002t0001g0007
others(6): Show 
a0001c0001t0001g0055
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0060
a0002c0002t0001g0079
a0002c0002t0001g0102
a0026c0048t0001g0117
 9 HG00621.hp2
HG02015.hp2
HG02071.hp2
others(6): Show 
HG00621.hp2
HG02015.hp2
HG02071.hp2
NA18946.hp1
NA18984.hp1
NA18988.hp1
NA18994.hp1
NA19066.hp2
NA19084.hp2
 intron_variant MODIFIER c.8265+536G>A
c.8265+536G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104670
chr6:75104815 T
T
 A
A
 10 a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
others(7): Show 
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 10 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.8265+391A>T
c.8265+391A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104815
chr6:75104875 A
A
 C
C
 1 a0001c0005t0001g0075
a0001c0005t0001g0075
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.8265+331T>G
c.8265+331T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104875
chr6:75104904 G
G
 A
A
 37 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(34): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 38 HG00408.hp1
HG00673.hp2
HG01109.hp1
others(35): Show 
HG00408.hp1
HG00673.hp2
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8265+302C>T
c.8265+302C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75104904
chr6:75105187 T
T
 A
A
 55 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(52): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 56 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(53): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8265+19A>T
c.8265+19A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 54/65 chr6 75105187
chr6:75105367 A
A
 G
G
 1 a0002c0002t0002g0163
a0002c0002t0002g0163
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.8179-75T>C
c.8179-75T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75105367
chr6:75105429 T
T
 C
C
 2 a0029c0052t0008g0198
a0030c0050t0010g0195
a0029c0052t0008g0198
a0030c0050t0010g0195
 2 HG02647.hp1
HG02717.hp2
HG02647.hp1
HG02717.hp2
 intron_variant MODIFIER c.8179-137A>G
c.8179-137A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75105429
chr6:75105477 C
C
 T
T
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.8179-185G>A
c.8179-185G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75105477
chr6:75105619 C
C
 A
A
 9 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(6): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
 9 HG02559.hp1
HG02630.hp1
HG02818.hp2
others(6): Show 
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8179-327G>T
c.8179-327G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75105619
chr6:75105721 C
C
 T
T
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.8179-429G>A
c.8179-429G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75105721
chr6:75106028 G
G
 T
T
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 NA18993.hp1
NA18993.hp1
 intron_variant MODIFIER c.8178+391C>A
c.8178+391C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75106028
chr6:75106124 C
C
 T
T
 51 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(48): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 52 HG00408.hp1
HG00673.hp2
HG01069.hp1
others(49): Show 
HG00408.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8178+295G>A
c.8178+295G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75106124
chr6:75106159 T
T
 G
G
 37 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(34): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 38 HG00408.hp1
HG00673.hp2
HG01109.hp1
others(35): Show 
HG00408.hp1
HG00673.hp2
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03491.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8178+260A>C
c.8178+260A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 53/65 chr6 75106159
chr6:75106565 T
T
 G
G
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.8101-69A>C
c.8101-69A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106565
chr6:75106668 C
C
 T
T
 10 a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
others(7): Show 
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 10 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.8101-172G>A
c.8101-172G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106668
chr6:75106725 C
C
 A
A
 5 a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
others(2): Show 
a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
a0016c0044t0015g0135
a0017c0034t0006g0200
 6 HG02451.hp2
HG02559.hp2
HG02895.hp1
others(3): Show 
HG02451.hp2
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.8101-229G>T
c.8101-229G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106725
chr6:75106749 C
C
 T
T
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.8101-253G>A
c.8101-253G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106749
chr6:75106879 TTTTTTTC
TTTTTTTC
 T
T
 111 a0001c0001t0001g0004
a0001c0001t0001g0011
a0001c0001t0001g0018
others(108): Show 
a0001c0001t0001g0004
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0111
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0007g0120
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0020c0030t0020g0202
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
 113 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(110): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp2
HG03710.hp2
HG03942.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18984.hp1
NA18985.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8101-390_8101-384d
others(9): Show 
c.8101-390_8101-384delGAAAAAA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106879
chr6:75106886 CT
CT
 C
C
 3 a0001c0001t0001g0009
a0001c0037t0001g0064
a0003c0003t0001g0182
a0001c0001t0001g0009
a0001c0037t0001g0064
a0003c0003t0001g0182
 3 HG01928.hp1
NA19068.hp2
NA19087.hp2
HG01928.hp1
NA19068.hp2
NA19087.hp2
 intron_variant MODIFIER c.8101-391delA
c.8101-391delA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106886
chr6:75106891 TTCTTTTT
others(1): Show 
TTCTTTTTC
 T
T
 11 a0001c0001t0001g0054
a0001c0001t0001g0062
a0001c0001t0001g0092
others(8): Show 
a0001c0001t0001g0054
a0001c0001t0001g0062
a0001c0001t0001g0092
a0001c0001t0001g0104
a0001c0001t0001g0152
a0001c0001t0001g0160
a0002c0002t0001g0006
a0002c0002t0001g0122
a0003c0003t0001g0110
a0003c0003t0001g0114
a0007c0009t0002g0003
 12 HG00741.hp2
HG02293.hp2
HG02451.hp1
others(9): Show 
HG00741.hp2
HG02293.hp2
HG02451.hp1
HG02895.hp1
HG02897.hp1
HG03492.hp1
HG03492.hp2
HG03710.hp1
HG04115.hp1
NA18988.hp1
NA18988.hp2
NA19063.hp2
 intron_variant MODIFIER c.8101-403_8101-396d
others(10): Show 
c.8101-403_8101-396delGAAAAAGA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106891
chr6:75106899 C
C
 CT
CT
 5 a0001c0005t0002g0098
a0001c0046t0007g0133
a0003c0003t0016g0172
others(2): Show 
a0001c0005t0002g0098
a0001c0046t0007g0133
a0003c0003t0016g0172
a0004c0012t0001g0052
a0029c0052t0008g0198
 5 HG02647.hp1
HG02818.hp1
HG03225.hp1
others(2): Show 
HG02647.hp1
HG02818.hp1
HG03225.hp1
NA18944.hp1
NA19087.hp1
 intron_variant MODIFIER c.8101-404dupA
c.8101-404dupA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106899
chr6:75106900 T
T
 C
C
 11 a0001c0001t0001g0054
a0001c0001t0001g0062
a0001c0001t0001g0092
others(8): Show 
a0001c0001t0001g0054
a0001c0001t0001g0062
a0001c0001t0001g0092
a0001c0001t0001g0104
a0001c0001t0001g0152
a0001c0001t0001g0160
a0002c0002t0001g0006
a0002c0002t0001g0122
a0003c0003t0001g0110
a0003c0003t0001g0114
a0007c0009t0002g0003
 12 HG00741.hp2
HG02293.hp2
HG02451.hp1
others(9): Show 
HG00741.hp2
HG02293.hp2
HG02451.hp1
HG02895.hp1
HG02897.hp1
HG03492.hp1
HG03492.hp2
HG03710.hp1
HG04115.hp1
NA18988.hp1
NA18988.hp2
NA19063.hp2
 intron_variant MODIFIER c.8101-404A>G
c.8101-404A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106900
chr6:75106903 T
T
 C
C
 1 a0002c0017t0002g0037
a0002c0017t0002g0037
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.8101-407A>G
c.8101-407A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106903
chr6:75106905 T
T
 C
C
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.8101-409A>G
c.8101-409A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106905
chr6:75106997 G
G
 A
A
 10 a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
others(7): Show 
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 10 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.8101-501C>T
c.8101-501C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75106997
chr6:75107015 C
C
 T
T
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.8101-519G>A
c.8101-519G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75107015
chr6:75107190 C
C
 G
G
 14 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(11): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0009c0010t0005g0045
a0009c0010t0005g0127
a0019c0040t0005g0154
a0022c0028t0005g0032
 14 HG01069.hp1
HG01071.hp1
HG02559.hp1
others(11): Show 
HG01069.hp1
HG01071.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.8101-694G>C
c.8101-694G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75107190
chr6:75107274 T
T
 C
C
 1 a0029c0052t0008g0198
a0029c0052t0008g0198
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.8101-778A>G
c.8101-778A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75107274
chr6:75107304 A
A
 G
G
 10 a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
others(7): Show 
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 10 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(7): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.8101-808T>C
c.8101-808T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75107304
chr6:75107405 G
G
 C
C
 27 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(24): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 28 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(25): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03491.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8101-909C>G
c.8101-909C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75107405
chr6:75107611 A
A
 G
G
 2 a0029c0052t0008g0198
a0030c0050t0010g0195
a0029c0052t0008g0198
a0030c0050t0010g0195
 2 HG02647.hp1
HG02717.hp2
HG02647.hp1
HG02717.hp2
 intron_variant MODIFIER c.8101-1115T>C
c.8101-1115T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75107611
chr6:75107924 G
G
 A
A
 1 a0015c0042t0002g0094
a0015c0042t0002g0094
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.8100+1094C>T
c.8100+1094C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75107924
chr6:75108057 G
G
 A
A
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.8100+961C>T
c.8100+961C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108057
chr6:75108070 C
C
 CATTG
CATTG
 20 a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
others(17): Show 
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0021t0013g0043
a0003c0032t0003g0029
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
 20 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(17): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA20300.hp2
 intron_variant MODIFIER c.8100+944_8100+947d
others(6): Show 
c.8100+944_8100+947dupCAAT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108070
chr6:75108070 CATTG
CATTG
 C
C
 5 a0001c0001t0001g0009
a0001c0001t0001g0076
a0001c0001t0001g0181
others(2): Show 
a0001c0001t0001g0009
a0001c0001t0001g0076
a0001c0001t0001g0181
a0002c0023t0005g0123
a0004c0004t0003g0157
 5 HG02486.hp2
HG03516.hp2
NA18945.hp2
others(2): Show 
HG02486.hp2
HG03516.hp2
NA18945.hp2
NA18999.hp2
NA19068.hp2
 intron_variant MODIFIER c.8100+944_8100+947d
others(6): Show 
c.8100+944_8100+947delCAAT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108070
chr6:75108106 G
G
 C
C
 1 a0002c0002t0001g0088
a0002c0002t0001g0088
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.8100+912C>G
c.8100+912C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108106
chr6:75108164 C
C
 A
A
 99 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(96): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0162
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0008g0169
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0010c0014t0005g0197
a0014c0025t0001g0069
a0018c0036t0005g0149
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
 100 HG00408.hp2
HG00438.hp2
HG00621.hp1
others(97): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02976.hp2
HG03195.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.8100+854G>T
c.8100+854G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108164
chr6:75108184 G
G
 T
T
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8100+834C>A
c.8100+834C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108184
chr6:75108212 T
T
 C
C
 1 a0001c0001t0019g0077
a0001c0001t0019g0077
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.8100+806A>G
c.8100+806A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108212
chr6:75108234 C
C
 G
G
 1 a0019c0040t0005g0154
a0019c0040t0005g0154
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.8100+784G>C
c.8100+784G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108234
chr6:75108250 G
G
 GT
GT
 5 a0001c0001t0002g0017
a0001c0001t0002g0091
a0002c0002t0001g0071
others(2): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0002c0002t0001g0071
a0002c0002t0001g0086
a0003c0003t0002g0100
 5 HG00438.hp1
HG01975.hp1
HG02148.hp1
others(2): Show 
HG00438.hp1
HG01975.hp1
HG02148.hp1
NA18993.hp1
NA19091.hp2
 intron_variant MODIFIER c.8100+767dupA
c.8100+767dupA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108250
chr6:75108437 T
T
 A
A
 37 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(34): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 38 HG00408.hp1
HG00673.hp2
HG01109.hp1
others(35): Show 
HG00408.hp1
HG00673.hp2
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03491.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.8100+581A>T
c.8100+581A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108437
chr6:75108715 G
G
 A
A
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.8100+303C>T
c.8100+303C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108715
chr6:75108826 A
A
 T
T
 2 a0006c0007t0005g0044
a0022c0028t0005g0032
a0006c0007t0005g0044
a0022c0028t0005g0032
 2 HG02572.hp2
HG02965.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.8100+192T>A
c.8100+192T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 52/65 chr6 75108826
chr6:75109240 C
C
 T
T
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7951-73G>A
c.7951-73G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75109240
chr6:75109401 T
T
 A
A
 36 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(33): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 37 HG00408.hp1
HG00673.hp2
HG01109.hp1
others(34): Show 
HG00408.hp1
HG00673.hp2
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7951-234A>T
c.7951-234A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75109401
chr6:75109762 T
T
 C
C
 2 a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0005t0005g0129
a0001c0005t0005g0170
 2 HG00741.hp1
HG03098.hp1
HG00741.hp1
HG03098.hp1
 intron_variant MODIFIER c.7951-595A>G
c.7951-595A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75109762
chr6:75109877 C
C
 T
T
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.7951-710G>A
c.7951-710G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75109877
chr6:75110108 A
A
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.7951-941T>C
c.7951-941T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75110108
chr6:75110267 A
A
 T
T
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.7951-1100T>A
c.7951-1100T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75110267
chr6:75110501 C
C
 T
T
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.7951-1334G>A
c.7951-1334G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75110501
chr6:75110552 A
A
 G
G
 2 a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0105
a0001c0001t0004g0115
 2 NA18979.hp2
NA18984.hp2
NA18979.hp2
NA18984.hp2
 intron_variant MODIFIER c.7951-1385T>C
c.7951-1385T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75110552
chr6:75110986 G
G
 T
T
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7951-1819C>A
c.7951-1819C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75110986
chr6:75111104 C
C
 T
T
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7951-1937G>A
c.7951-1937G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75111104
chr6:75111105 G
G
 A
A
 4 a0001c0001t0001g0011
a0001c0001t0001g0095
a0001c0043t0001g0078
others(1): Show 
a0001c0001t0001g0011
a0001c0001t0001g0095
a0001c0043t0001g0078
a0004c0004t0017g0099
 4 HG00408.hp2
HG02129.hp2
HG02523.hp1
others(1): Show 
HG00408.hp2
HG02129.hp2
HG02523.hp1
NA18968.hp2
 intron_variant MODIFIER c.7951-1938C>T
c.7951-1938C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75111105
chr6:75111328 T
T
 C
C
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.7950+1876A>G
c.7950+1876A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75111328
chr6:75111381 G
G
 C
C
 1 a0002c0006t0002g0106
a0002c0006t0002g0106
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.7950+1823C>G
c.7950+1823C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75111381
chr6:75111560 T
T
 G
G
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.7950+1644A>C
c.7950+1644A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75111560
chr6:75111673 A
A
 T
T
 55 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(52): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 56 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(53): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7950+1531T>A
c.7950+1531T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75111673
chr6:75111818 C
C
 CT
CT
 8 a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
others(5): Show 
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0002c0002t0001g0071
a0002c0002t0001g0086
a0003c0003t0002g0100
a0029c0052t0008g0198
a0030c0050t0010g0195
 8 HG00438.hp1
HG01975.hp1
HG02148.hp1
others(5): Show 
HG00438.hp1
HG01975.hp1
HG02148.hp1
HG02148.hp2
HG02647.hp1
HG02717.hp2
NA18993.hp1
NA19091.hp2
 intron_variant MODIFIER c.7950+1385dupA
c.7950+1385dupA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75111818
chr6:75112121 T
T
 A
A
 3 a0001c0001t0022g0063
a0001c0037t0001g0064
a0003c0003t0001g0126
a0001c0001t0022g0063
a0001c0037t0001g0064
a0003c0003t0001g0126
 3 HG01928.hp1
HG01978.hp1
NA20300.hp1
HG01928.hp1
HG01978.hp1
NA20300.hp1
 intron_variant MODIFIER c.7950+1083A>T
c.7950+1083A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75112121
chr6:75112216 G
G
 A
A
 1 a0010c0014t0005g0197
a0010c0014t0005g0197
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.7950+988C>T
c.7950+988C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75112216
chr6:75112265 T
T
 C
C
 1 a0001c0001t0004g0013
a0001c0001t0004g0013
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.7950+939A>G
c.7950+939A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75112265
chr6:75112552 G
G
 GA
GA
 3 a0001c0005t0005g0129
a0001c0005t0005g0170
a0003c0003t0016g0172
a0001c0005t0005g0129
a0001c0005t0005g0170
a0003c0003t0016g0172
 3 HG00741.hp1
HG03098.hp1
HG03225.hp1
HG00741.hp1
HG03098.hp1
HG03225.hp1
 intron_variant MODIFIER c.7950+651dupT
c.7950+651dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75112552
chr6:75112686 T
T
 G
G
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.7950+518A>C
c.7950+518A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75112686
chr6:75112972 T
T
 C
C
 34 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(31): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0102
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 35 HG00408.hp1
HG00438.hp2
HG00621.hp2
others(32): Show 
HG00408.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG03491.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19084.hp2
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7950+232A>G
c.7950+232A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75112972
chr6:75113110 T
T
 C
C
 9 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(6): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
 9 HG02559.hp1
HG02630.hp1
HG02818.hp2
others(6): Show 
HG02559.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.7950+94A>G
c.7950+94A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75113110
chr6:75113186 A
A
 C
C
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.7950+18T>G
c.7950+18T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 51/65 chr6 75113186
chr6:75114180 A
A
 G
G
 1 a0002c0002t0001g0097
a0002c0002t0001g0097
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.7698-436T>C
c.7698-436T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/65 chr6 75114180
chr6:75114716 C
C
 T
T
 2 a0002c0054t0003g0193
a0020c0030t0020g0202
a0002c0054t0003g0193
a0020c0030t0020g0202
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.7698-972G>A
c.7698-972G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/65 chr6 75114716
chr6:75114842 A
A
 G
G
 1 a0002c0002t0001g0024
a0002c0002t0001g0024
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.7697+942T>C
c.7697+942T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/65 chr6 75114842
chr6:75115107 C
C
 A
A
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7697+677G>T
c.7697+677G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/65 chr6 75115107
chr6:75115177 T
T
 C
C
 1 a0002c0002t0001g0178
a0002c0002t0001g0178
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.7697+607A>G
c.7697+607A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/65 chr6 75115177
chr6:75115465 A
A
 G
G
 62 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(59): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0102
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 63 HG00408.hp1
HG00438.hp2
HG00621.hp2
others(60): Show 
HG00408.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03491.hp1
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19084.hp2
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7697+319T>C
c.7697+319T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/65 chr6 75115465
chr6:75115554 T
T
 C
C
 5 a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
others(2): Show 
a0002c0002t0002g0163
a0007c0009t0002g0003
a0010c0014t0002g0196
a0016c0044t0015g0135
a0017c0034t0006g0200
 6 HG02451.hp2
HG02559.hp2
HG02895.hp1
others(3): Show 
HG02451.hp2
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03098.hp2
HG03540.hp1
 intron_variant MODIFIER c.7697+230A>G
c.7697+230A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 49/65 chr6 75115554
chr6:75116278 A
A
 T
T
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.7520-221T>A
c.7520-221T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75116278
chr6:75116319 A
A
 T
T
 54 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(51): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0032t0003g0029
a0004c0004t0001g0173
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0051t0007g0194
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 55 HG00408.hp1
HG00673.hp2
HG00741.hp1
others(52): Show 
HG00408.hp1
HG00673.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02145.hp1
HG02559.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03516.hp1
HG03579.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20300.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.7520-262T>A
c.7520-262T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75116319
chr6:75116418 T
T
 C
C
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0019c0040t0005g0154
 10 HG02559.hp1
HG02630.hp1
HG02723.hp1
others(7): Show 
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.7520-361A>G
c.7520-361A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75116418
chr6:75116662 T
T
 G
G
 1 a0002c0002t0001g0060
a0002c0002t0001g0060
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.7520-605A>C
c.7520-605A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75116662
chr6:75116767 C
C
 T
T
 1 a0001c0001t0003g0162
a0001c0001t0003g0162
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.7519+615G>A
c.7519+615G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75116767
chr6:75116768 C
C
 G
G
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.7519+614G>C
c.7519+614G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75116768
chr6:75117008 C
C
 T
T
 1 a0029c0052t0008g0198
a0029c0052t0008g0198
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.7519+374G>A
c.7519+374G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75117008
chr6:75117108 C
C
 T
T
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0019c0040t0005g0154
 10 HG02559.hp1
HG02630.hp1
HG02723.hp1
others(7): Show 
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.7519+274G>A
c.7519+274G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75117108
chr6:75117312 T
T
 C
C
 13 a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0062
others(10): Show 
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0062
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0104
a0001c0001t0001g0152
a0002c0002t0001g0016
a0002c0002t0001g0122
a0003c0003t0001g0110
a0003c0003t0001g0114
a0004c0004t0001g0083
a0004c0004t0018g0132
 13 HG00741.hp2
HG01071.hp2
HG02145.hp2
others(10): Show 
HG00741.hp2
HG01071.hp2
HG02145.hp2
HG02293.hp2
HG02451.hp1
HG03492.hp2
HG03710.hp1
HG04115.hp1
NA18988.hp2
NA19063.hp2
NA19066.hp1
NA19070.hp1
NA20752.hp2
 intron_variant MODIFIER c.7519+70A>G
c.7519+70A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 47/65 chr6 75117312
chr6:75117746 T
T
 C
C
 2 a0002c0054t0003g0193
a0020c0030t0020g0202
a0002c0054t0003g0193
a0020c0030t0020g0202
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.7355-200A>G
c.7355-200A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75117746
chr6:75117842 A
A
 T
T
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.7355-296T>A
c.7355-296T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75117842
chr6:75118022 C
C
 T
T
 1 a0001c0005t0001g0038
a0001c0005t0001g0038
 1 NA18993.hp2
NA18993.hp2
 intron_variant MODIFIER c.7355-476G>A
c.7355-476G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75118022
chr6:75118072 T
T
 C
C
 2 a0002c0006t0002g0066
a0002c0006t0002g0119
a0002c0006t0002g0066
a0002c0006t0002g0119
 2 HG03942.hp2
HG04199.hp2
HG03942.hp2
HG04199.hp2
 intron_variant MODIFIER c.7355-526A>G
c.7355-526A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75118072
chr6:75118130 G
G
 A
A
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.7355-584C>T
c.7355-584C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75118130
chr6:75118135 A
A
 T
T
 10 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(7): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0019c0040t0005g0154
 10 HG02559.hp1
HG02630.hp1
HG02723.hp1
others(7): Show 
HG02559.hp1
HG02630.hp1
HG02723.hp1
HG02818.hp2
HG02886.hp2
HG03195.hp1
HG03209.hp1
HG03516.hp1
NA18522.hp1
NA20300.hp2
 intron_variant MODIFIER c.7355-589T>A
c.7355-589T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75118135
chr6:75118312 C
C
 G
G
 9 a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0032t0003g0029
others(6): Show 
a0001c0041t0007g0146
a0001c0046t0007g0133
a0003c0032t0003g0029
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 9 HG01109.hp1
HG02109.hp1
HG02145.hp1
others(6): Show 
HG01109.hp1
HG02109.hp1
HG02145.hp1
HG02723.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
 intron_variant MODIFIER c.7354+731G>C
c.7354+731G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75118312
chr6:75118406 A
A
 T
T
 16 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0139
others(13): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0021g0201
a0001c0035t0003g0101
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0177
a0003c0021t0013g0043
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
 17 HG00438.hp1
HG01891.hp1
HG02615.hp1
others(14): Show 
HG00438.hp1
HG01891.hp1
HG02615.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18993.hp1
NA19091.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.7354+637T>A
c.7354+637T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 46/65 chr6 75118406
chr6:75119613 A
A
 C
C
 3 a0003c0003t0016g0172
a0019c0040t0005g0154
a0030c0050t0010g0195
a0003c0003t0016g0172
a0019c0040t0005g0154
a0030c0050t0010g0195
 3 HG02717.hp2
HG02723.hp1
HG03225.hp1
HG02717.hp2
HG02723.hp1
HG03225.hp1
 intron_variant MODIFIER c.7087-140T>G
c.7087-140T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75119613
chr6:75119631 T
T
 C
C
 172 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(169): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 175 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(172): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7087-158A>G
c.7087-158A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75119631
chr6:75119657 G
G
 T
T
 172 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(169): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 175 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(172): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.7087-184C>A
c.7087-184C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75119657
chr6:75119751 G
G
 T
T
 40 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(37): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0054t0003g0193
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
 42 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(39): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02735.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA21309.hp1
 intron_variant MODIFIER c.7087-278C>A
c.7087-278C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75119751
chr6:75119772 G
G
 A
A
 1 a0004c0004t0001g0189
a0004c0004t0001g0189
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.7087-299C>T
c.7087-299C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75119772
chr6:75119930 C
C
 A
A
 151 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(148): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0008g0169
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 153 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(150): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00621.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.7087-457G>T
c.7087-457G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75119930
chr6:75120144 C
C
 T
T
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.7087-671G>A
c.7087-671G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75120144
chr6:75120220 G
G
 C
C
 4 a0001c0001t0001g0046
a0002c0002t0002g0163
a0003c0003t0001g0031
others(1): Show 
a0001c0001t0001g0046
a0002c0002t0002g0163
a0003c0003t0001g0031
a0003c0003t0001g0167
 4 HG01069.hp2
HG02451.hp2
HG02630.hp2
others(1): Show 
HG01069.hp2
HG02451.hp2
HG02630.hp2
HG02647.hp2
 intron_variant MODIFIER c.7087-747C>G
c.7087-747C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75120220
chr6:75120368 T
T
 G
G
 3 a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 3 HG01069.hp1
HG01071.hp1
HG02965.hp1
HG01069.hp1
HG01071.hp1
HG02965.hp1
 intron_variant MODIFIER c.7087-895A>C
c.7087-895A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75120368
chr6:75120692 T
T
 A
A
 5 a0001c0001t0001g0058
a0001c0001t0001g0144
a0002c0002t0001g0088
others(2): Show 
a0001c0001t0001g0058
a0001c0001t0001g0144
a0002c0002t0001g0088
a0002c0002t0001g0112
a0002c0002t0001g0131
 5 HG01496.hp1
HG02602.hp2
HG02698.hp1
others(2): Show 
HG01496.hp1
HG02602.hp2
HG02698.hp1
HG02698.hp2
HG03710.hp2
 intron_variant MODIFIER c.7086+610A>T
c.7086+610A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75120692
chr6:75121001 C
C
 G
G
 144 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(141): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
 146 HG00408.hp1
HG00408.hp2
HG00438.hp2
others(143): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.7086+301G>C
c.7086+301G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75121001
chr6:75121126 C
C
 T
T
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.7086+176G>A
c.7086+176G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75121126
chr6:75121131 G
G
 T
T
 148 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(145): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0008g0169
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00621.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.7086+171C>A
c.7086+171C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75121131
chr6:75121258 G
G
 C
C
 97 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(94): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0021g0201
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0007g0120
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0023c0029t0001g0026
a0025c0047t0005g0192
 98 HG00408.hp2
HG00621.hp1
HG00673.hp1
others(95): Show 
HG00408.hp2
HG00621.hp1
HG00673.hp1
HG00741.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02074.hp2
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp2
NA18968.hp2
NA18985.hp2
NA18988.hp2
NA18993.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19063.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.7086+44C>G
c.7086+44C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75121258
chr6:75121267 C
C
 T
T
 41 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(38): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0002c0054t0003g0193
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0004c0004t0001g0173
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
 43 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(40): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02559.hp2
HG02615.hp1
HG02735.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.7086+35G>A
c.7086+35G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 44/65 chr6 75121267
chr6:75121599 G
G
 A
A
 1 a0001c0001t0001g0070
a0001c0001t0001g0070
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.6947-158C>T
c.6947-158C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121599
chr6:75121652 T
T
 C
C
 4 a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
others(1): Show 
a0006c0007t0005g0044
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 4 HG01069.hp1
HG01071.hp1
HG02572.hp2
others(1): Show 
HG01069.hp1
HG01071.hp1
HG02572.hp2
HG02965.hp1
 intron_variant MODIFIER c.6947-211A>G
c.6947-211A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121652
chr6:75121795 T
T
 A
A
 2 a0001c0001t0004g0090
a0002c0002t0001g0015
a0001c0001t0004g0090
a0002c0002t0001g0015
 2 HG00673.hp2
HG02080.hp1
HG00673.hp2
HG02080.hp1
 intron_variant MODIFIER c.6947-354A>T
c.6947-354A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121795
chr6:75121809 T
T
 C
C
 1 a0003c0003t0001g0167
a0003c0003t0001g0167
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.6947-368A>G
c.6947-368A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121809
chr6:75121858 C
C
 CT
CT
 10 a0001c0001t0004g0115
a0001c0001t0010g0171
a0003c0003t0001g0114
others(7): Show 
a0001c0001t0004g0115
a0001c0001t0010g0171
a0003c0003t0001g0114
a0003c0003t0003g0002
a0003c0003t0003g0156
a0003c0003t0016g0172
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0016t0006g0028
 11 HG02818.hp2
HG02886.hp2
HG02896.hp1
others(8): Show 
HG02818.hp2
HG02886.hp2
HG02896.hp1
HG02897.hp2
HG03195.hp1
HG03225.hp1
HG04115.hp1
NA18522.hp1
NA18906.hp2
NA18984.hp2
NA19030.hp2
 intron_variant MODIFIER c.6947-418dupA
c.6947-418dupA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121858
chr6:75121876 T
T
 TA
TA
 2 a0001c0001t0001g0093
a0003c0003t0001g0182
a0001c0001t0001g0093
a0003c0003t0001g0182
 2 NA19084.hp1
NA19087.hp2
NA19084.hp1
NA19087.hp2
 intron_variant MODIFIER c.6947-436dupT
c.6947-436dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121876
chr6:75121877 A
A
 T
T
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.6947-436T>A
c.6947-436T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121877
chr6:75121879 A
A
 G
G
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.6947-438T>C
c.6947-438T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75121879
chr6:75122040 A
A
 G
G
 1 a0016c0044t0015g0135
a0016c0044t0015g0135
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.6947-599T>C
c.6947-599T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75122040
chr6:75122092 C
C
 T
T
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.6947-651G>A
c.6947-651G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75122092
chr6:75122224 G
G
 A
A
 1 a0003c0003t0003g0002
a0003c0003t0003g0002
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.6947-783C>T
c.6947-783C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75122224
chr6:75122364 T
T
 C
C
 2 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0004
a0001c0001t0001g0061
 3 NA18952.hp2
NA18966.hp2
NA19064.hp1
NA18952.hp2
NA18966.hp2
NA19064.hp1
 intron_variant MODIFIER c.6947-923A>G
c.6947-923A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75122364
chr6:75122822 C
C
 A
A
 1 a0019c0040t0005g0154
a0019c0040t0005g0154
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.6946+508G>T
c.6946+508G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75122822
chr6:75122842 G
G
 A
A
 3 a0001c0001t0022g0063
a0001c0037t0001g0064
a0003c0003t0001g0126
a0001c0001t0022g0063
a0001c0037t0001g0064
a0003c0003t0001g0126
 3 HG01928.hp1
HG01978.hp1
NA20300.hp1
HG01928.hp1
HG01978.hp1
NA20300.hp1
 intron_variant MODIFIER c.6946+488C>T
c.6946+488C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75122842
chr6:75123303 A
A
 C
C
 4 a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
others(1): Show 
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0028c0053t0007g0199
 4 HG02723.hp2
HG02896.hp2
HG03225.hp2
others(1): Show 
HG02723.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
 intron_variant MODIFIER c.6946+27T>G
c.6946+27T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 43/65 chr6 75123303
chr6:75124160 C
C
 A
A
 155 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(152): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0008g0169
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 157 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(154): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6725-66G>T
c.6725-66G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 41/65 chr6 75124160
chr6:75124181 G
G
 C
C
 1 a0001c0001t0010g0171
a0001c0001t0010g0171
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.6724+74C>G
c.6724+74C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 41/65 chr6 75124181
chr6:75124458 C
C
 G
G
 1 a0001c0001t0004g0090
a0001c0001t0004g0090
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.6608-87G>C
c.6608-87G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 40/65 chr6 75124458
chr6:75124532 T
T
 C
C
 156 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(153): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0008g0169
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 158 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(155): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.6608-161A>G
c.6608-161A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 40/65 chr6 75124532
chr6:75124599 C
C
 T
T
 2 a0016c0044t0015g0135
a0017c0034t0006g0200
a0016c0044t0015g0135
a0017c0034t0006g0200
 2 HG02559.hp2
HG03540.hp1
HG02559.hp2
HG03540.hp1
 intron_variant MODIFIER c.6608-228G>A
c.6608-228G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 40/65 chr6 75124599
chr6:75124829 A
A
 G
G
 34 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(31): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0102
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 35 HG00408.hp1
HG00438.hp2
HG00621.hp2
others(32): Show 
HG00408.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19084.hp2
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.6607+298T>C
c.6607+298T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 40/65 chr6 75124829
chr6:75125014 C
C
 T
T
 1 a0001c0001t0001g0011
a0001c0001t0001g0011
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.6607+113G>A
c.6607+113G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 40/65 chr6 75125014
chr6:75125589 A
A
 G
G
 116 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(113): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0162
a0001c0001t0010g0171
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0016g0172
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0010c0014t0002g0196
a0010c0014t0005g0197
a0014c0025t0001g0069
a0018c0036t0005g0149
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
 118 HG00408.hp2
HG00438.hp2
HG00621.hp1
others(115): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18982.hp1
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6461-316T>C
c.6461-316T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 39/65 chr6 75125589
chr6:75125725 T
T
 C
C
 10 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(7): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 10 HG00438.hp1
HG01975.hp1
HG02148.hp1
others(7): Show 
HG00438.hp1
HG01975.hp1
HG02148.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6461-452A>G
c.6461-452A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 39/65 chr6 75125725
chr6:75126277 G
G
 A
A
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6460+74C>T
c.6460+74C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 39/65 chr6 75126277
chr6:75126280 G
G
 A
A
 1 a0001c0035t0003g0101
a0001c0035t0003g0101
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.6460+71C>T
c.6460+71C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 39/65 chr6 75126280
chr6:75126544 C
C
 T
T
 1 a0001c0001t0004g0013
a0001c0001t0004g0013
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.6341-74G>A
c.6341-74G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75126544
chr6:75126671 T
T
 C
C
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.6341-201A>G
c.6341-201A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75126671
chr6:75127061 G
G
 A
A
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6341-591C>T
c.6341-591C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127061
chr6:75127069 C
C
 T
T
 4 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(1): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0016t0006g0028
 4 HG02818.hp2
HG02886.hp2
HG03195.hp1
others(1): Show 
HG02818.hp2
HG02886.hp2
HG03195.hp1
NA18522.hp1
 intron_variant MODIFIER c.6341-599G>A
c.6341-599G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127069
chr6:75127122 G
G
 A
A
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6341-652C>T
c.6341-652C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127122
chr6:75127400 T
T
 C
C
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.6340+896A>G
c.6340+896A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127400
chr6:75127401 T
T
 C
C
 1 a0003c0003t0003g0035
a0003c0003t0003g0035
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.6340+895A>G
c.6340+895A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127401
chr6:75127487 T
T
 C
C
 116 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(113): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0162
a0001c0001t0010g0171
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0016g0172
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0010c0014t0002g0196
a0010c0014t0005g0197
a0014c0025t0001g0069
a0018c0036t0005g0149
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
 118 HG00408.hp2
HG00438.hp2
HG00621.hp1
others(115): Show 
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18982.hp1
NA18984.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6340+809A>G
c.6340+809A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127487
chr6:75127489 A
A
 C
C
 10 a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0021g0201
others(7): Show 
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0021g0201
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0177
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
 11 HG01891.hp1
HG02615.hp1
HG02896.hp1
others(8): Show 
HG01891.hp1
HG02615.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.6340+807T>G
c.6340+807T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127489
chr6:75127590 G
G
 A
A
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.6340+706C>T
c.6340+706C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127590
chr6:75127626 G
G
 A
A
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6340+670C>T
c.6340+670C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127626
chr6:75127635 G
G
 A
A
 1 a0003c0031t0001g0107
a0003c0031t0001g0107
 1 HG02004.hp1
HG02004.hp1
 intron_variant MODIFIER c.6340+661C>T
c.6340+661C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127635
chr6:75127752 A
A
 G
G
 1 a0003c0027t0009g0125
a0003c0027t0009g0125
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.6340+544T>C
c.6340+544T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127752
chr6:75127792 T
T
 C
C
 1 a0010c0014t0002g0196
a0010c0014t0002g0196
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.6340+504A>G
c.6340+504A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127792
chr6:75127882 C
C
 G
G
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6340+414G>C
c.6340+414G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75127882
chr6:75128197 T
T
 C
C
 35 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(32): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0102
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 36 HG00408.hp1
HG00438.hp2
HG00621.hp2
others(33): Show 
HG00408.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02735.hp1
HG03491.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19084.hp2
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.6340+99A>G
c.6340+99A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75128197
chr6:75128239 C
C
 A
A
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.6340+57G>T
c.6340+57G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 38/65 chr6 75128239
chr6:75128454 T
T
 G
G
 7 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
others(4): Show 
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0016t0006g0028
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 7 HG01069.hp1
HG01071.hp1
HG02818.hp2
others(4): Show 
HG01069.hp1
HG01071.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp1
HG03195.hp1
NA18522.hp1
 intron_variant MODIFIER c.6211-29A>C
c.6211-29A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128454
chr6:75128583 T
T
 C
C
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6211-158A>G
c.6211-158A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128583
chr6:75128663 G
G
 A
A
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6211-238C>T
c.6211-238C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128663
chr6:75128666 A
A
 T
T
 85 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(82): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0162
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0008g0169
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0016g0172
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0018c0036t0005g0149
a0023c0029t0001g0026
a0025c0047t0005g0192
 85 HG00408.hp2
HG00621.hp1
HG00673.hp1
others(82): Show 
HG00408.hp2
HG00621.hp1
HG00673.hp1
HG00741.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01496.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02074.hp2
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02886.hp1
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp2
NA18968.hp2
NA18985.hp2
NA18988.hp2
NA18993.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.6211-241T>A
c.6211-241T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128666
chr6:75128806 T
T
 C
C
 13 a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0021g0201
others(10): Show 
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0021g0201
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0177
a0003c0003t0007g0120
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0016c0044t0015g0135
a0017c0034t0006g0200
 14 HG01891.hp1
HG02559.hp2
HG02615.hp1
others(11): Show 
HG01891.hp1
HG02559.hp2
HG02615.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
NA21309.hp1
 intron_variant MODIFIER c.6211-381A>G
c.6211-381A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128806
chr6:75128819 C
C
 T
T
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.6211-394G>A
c.6211-394G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128819
chr6:75128880 A
A
 C
C
 49 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0055
others(46): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0065
a0001c0001t0001g0184
a0001c0001t0003g0139
a0001c0001t0022g0063
a0001c0037t0001g0064
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0003c0003t0001g0031
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0021t0013g0043
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0016t0006g0028
a0006c0007t0005g0044
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
a0014c0025t0001g0069
a0019c0040t0005g0154
a0022c0028t0005g0032
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 51 HG00438.hp2
HG00621.hp2
HG01069.hp1
others(48): Show 
HG00438.hp2
HG00621.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01109.hp1
HG01928.hp1
HG01975.hp1
HG01978.hp1
HG02015.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp1
HG02148.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp1
HG03225.hp2
HG03579.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18946.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18982.hp1
NA18984.hp1
NA18988.hp1
NA18994.hp1
NA19064.hp1
NA19066.hp2
NA19084.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6211-455T>G
c.6211-455T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128880
chr6:75128966 G
G
 C
C
 174 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(171): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 178 HG00408.hp1
HG00408.hp2
HG00438.hp2
others(175): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6211-541C>G
c.6211-541C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128966
chr6:75128992 A
A
 G
G
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.6211-567T>C
c.6211-567T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75128992
chr6:75129048 G
G
 A
A
 8 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
others(5): Show 
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0035t0003g0101
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0002g0100
a0004c0004t0003g0157
 8 HG00438.hp1
HG02486.hp2
HG02717.hp1
others(5): Show 
HG00438.hp1
HG02486.hp2
HG02717.hp1
HG02976.hp1
HG03516.hp2
NA18993.hp1
NA19091.hp2
NA21309.hp2
 intron_variant MODIFIER c.6211-623C>T
c.6211-623C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75129048
chr6:75129181 G
G
 A
A
 26 a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
others(23): Show 
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0038t0004g0023
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0004g0049
a0004c0004t0001g0173
 27 HG00408.hp1
HG00673.hp2
HG01261.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02735.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19068.hp1
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.6211-756C>T
c.6211-756C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75129181
chr6:75129297 T
T
 G
G
 2 a0002c0002t0001g0022
a0002c0002t0001g0178
a0002c0002t0001g0022
a0002c0002t0001g0178
 2 HG02056.hp1
NA18747.hp1
HG02056.hp1
NA18747.hp1
 intron_variant MODIFIER c.6210+794A>C
c.6210+794A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75129297
chr6:75129371 A
A
 G
G
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.6210+720T>C
c.6210+720T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75129371
chr6:75129730 A
A
 G
G
 1 a0001c0035t0003g0101
a0001c0035t0003g0101
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.6210+361T>C
c.6210+361T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75129730
chr6:75129881 G
G
 T
T
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.6210+210C>A
c.6210+210C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75129881
chr6:75129988 C
C
 G
G
 3 a0001c0001t0001g0144
a0002c0002t0001g0088
a0002c0002t0001g0131
a0001c0001t0001g0144
a0002c0002t0001g0088
a0002c0002t0001g0131
 3 HG01496.hp1
HG02698.hp2
HG03710.hp2
HG01496.hp1
HG02698.hp2
HG03710.hp2
 intron_variant MODIFIER c.6210+103G>C
c.6210+103G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75129988
chr6:75130078 G
G
 A
A
 3 a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 3 HG01069.hp1
HG01071.hp1
HG02965.hp1
HG01069.hp1
HG01071.hp1
HG02965.hp1
 intron_variant MODIFIER c.6210+13C>T
c.6210+13C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 37/65 chr6 75130078
chr6:75130247 A
A
 T
T
 3 a0001c0001t0001g0072
a0001c0001t0001g0185
a0002c0002t0001g0024
a0001c0001t0001g0072
a0001c0001t0001g0185
a0002c0002t0001g0024
 3 HG01928.hp2
HG01978.hp2
HG02148.hp2
HG01928.hp2
HG01978.hp2
HG02148.hp2
 intron_variant MODIFIER c.6068-14T>A
c.6068-14T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 36/65 chr6 75130247
chr6:75130313 T
T
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.6068-80A>G
c.6068-80A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 36/65 chr6 75130313
chr6:75130404 G
G
 A
A
 146 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0018
others(143): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 149 HG00408.hp1
HG00408.hp2
HG00621.hp1
others(146): Show 
HG00408.hp1
HG00408.hp2
HG00621.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.6068-171C>T
c.6068-171C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 36/65 chr6 75130404
chr6:75130539 A
A
 G
G
 3 a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0016t0006g0028
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0016t0006g0028
 3 HG02886.hp2
HG03195.hp1
NA18522.hp1
HG02886.hp2
HG03195.hp1
NA18522.hp1
 intron_variant MODIFIER c.6068-306T>C
c.6068-306T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 36/65 chr6 75130539
chr6:75130770 C
C
 A
A
 1 a0004c0004t0018g0132
a0004c0004t0018g0132
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.6067+82G>T
c.6067+82G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 36/65 chr6 75130770
chr6:75131008 G
G
 T
T
 1 a0001c0001t0010g0171
a0001c0001t0010g0171
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.5938-27C>A
c.5938-27C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 35/65 chr6 75131008
chr6:75131058 A
A
 G
G
 1 a0003c0021t0013g0043
a0003c0021t0013g0043
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.5938-77T>C
c.5938-77T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 35/65 chr6 75131058
chr6:75131124 C
C
 A
A
 1 a0003c0003t0003g0156
a0003c0003t0003g0156
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.5938-143G>T
c.5938-143G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 35/65 chr6 75131124
chr6:75131253 T
T
 G
G
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.5938-272A>C
c.5938-272A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 35/65 chr6 75131253
chr6:75131264 T
T
 C
C
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.5938-283A>G
c.5938-283A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 35/65 chr6 75131264
chr6:75132231 A
A
 G
G
 1 a0001c0001t0003g0139
a0001c0001t0003g0139
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.5795-149T>C
c.5795-149T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75132231
chr6:75132405 T
T
 C
C
 1 a0003c0003t0003g0030
a0003c0003t0003g0030
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.5795-323A>G
c.5795-323A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75132405
chr6:75132419 A
A
 C
C
 1 a0005c0008t0006g0036
a0005c0008t0006g0036
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.5795-337T>G
c.5795-337T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75132419
chr6:75132540 C
C
 G
G
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5795-458G>C
c.5795-458G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75132540
chr6:75132649 A
A
 T
T
 3 a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
a0009c0010t0005g0045
a0009c0010t0005g0127
a0022c0028t0005g0032
 3 HG01069.hp1
HG01071.hp1
HG02965.hp1
HG01069.hp1
HG01071.hp1
HG02965.hp1
 intron_variant MODIFIER c.5795-567T>A
c.5795-567T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75132649
chr6:75132744 A
A
 C
C
 106 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(103): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0022g0063
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0002g0085
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0007g0120
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0010c0014t0002g0196
a0010c0014t0005g0197
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0023c0029t0001g0026
a0025c0047t0005g0192
 108 HG00408.hp2
HG00621.hp1
HG00673.hp1
others(105): Show 
HG00408.hp2
HG00621.hp1
HG00673.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp2
NA18968.hp2
NA18982.hp1
NA18985.hp2
NA18988.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19063.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5794+549T>G
c.5794+549T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75132744
chr6:75133256 T
T
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.5794+37A>G
c.5794+37A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75133256
chr6:75133258 T
T
 C
C
 35 a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
others(32): Show 
a0001c0001t0001g0059
a0001c0001t0001g0074
a0001c0001t0001g0081
a0001c0001t0001g0103
a0001c0001t0001g0116
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0102
a0002c0002t0001g0178
a0002c0002t0002g0053
a0003c0003t0001g0057
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0004g0001
a0003c0003t0007g0120
a0004c0004t0001g0173
a0010c0014t0005g0197
 36 HG00408.hp1
HG00438.hp2
HG00621.hp2
others(33): Show 
HG00408.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp2
HG01261.hp2
HG01496.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp2
HG02735.hp1
HG03209.hp2
HG03491.hp1
HG04115.hp2
NA18747.hp1
NA18945.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp1
NA18994.hp1
NA18995.hp1
NA18999.hp1
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19084.hp2
NA19090.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.5794+35A>G
c.5794+35A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 34/65 chr6 75133258
chr6:75133606 C
C
 T
T
 1 a0003c0003t0001g0180
a0003c0003t0001g0180
 1 NA20805.hp2
NA20805.hp2
 intron_variant MODIFIER c.5665-184G>A
c.5665-184G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 33/65 chr6 75133606
chr6:75133644 G
G
 A
A
 175 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(172): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 179 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(176): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5664+214C>T
c.5664+214C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 33/65 chr6 75133644
chr6:75134078 G
G
 C
C
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.5525-81C>G
c.5525-81C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134078
chr6:75134103 G
G
 A
A
 1 a0029c0052t0008g0198
a0029c0052t0008g0198
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.5525-106C>T
c.5525-106C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134103
chr6:75134129 T
T
 C
C
 98 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(95): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0150
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0010g0171
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0071
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0191
a0002c0002t0008g0169
a0003c0003t0001g0031
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0179
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0011c0049t0003g0166
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0025c0047t0005g0192
 99 HG00408.hp2
HG00621.hp1
HG00673.hp1
others(96): Show 
HG00408.hp2
HG00621.hp1
HG00673.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01496.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18968.hp2
NA18985.hp2
NA18988.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.5525-132A>G
c.5525-132A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134129
chr6:75134150 G
G
 T
T
 1 a0001c0005t0001g0075
a0001c0005t0001g0075
 1 NA18995.hp2
NA18995.hp2
 intron_variant MODIFIER c.5525-153C>A
c.5525-153C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134150
chr6:75134151 C
C
 T
T
 8 a0001c0005t0001g0075
a0003c0021t0013g0043
a0008c0011t0007g0042
others(5): Show 
a0001c0005t0001g0075
a0003c0021t0013g0043
a0008c0011t0007g0042
a0008c0011t0012g0041
a0011c0051t0007g0194
a0024c0020t0007g0047
a0027c0018t0007g0145
a0028c0053t0007g0199
 8 HG01109.hp1
HG02145.hp1
HG02723.hp2
others(5): Show 
HG01109.hp1
HG02145.hp1
HG02723.hp2
HG02896.hp2
HG03225.hp2
HG03579.hp1
NA18522.hp2
NA18995.hp2
 intron_variant MODIFIER c.5525-154G>A
c.5525-154G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134151
chr6:75134263 C
C
 G
G
 5 a0001c0001t0003g0155
a0009c0010t0005g0045
a0009c0010t0005g0127
others(2): Show 
a0001c0001t0003g0155
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0022c0028t0005g0032
 5 HG01069.hp1
HG01071.hp1
HG02965.hp1
others(2): Show 
HG01069.hp1
HG01071.hp1
HG02965.hp1
HG02965.hp2
HG03579.hp2
 intron_variant MODIFIER c.5525-266G>C
c.5525-266G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134263
chr6:75134303 A
A
 C
C
 22 a0001c0001t0001g0004
a0001c0001t0001g0055
a0001c0001t0001g0061
others(19): Show 
a0001c0001t0001g0004
a0001c0001t0001g0055
a0001c0001t0001g0061
a0001c0001t0001g0184
a0001c0001t0003g0139
a0001c0001t0003g0155
a0001c0001t0022g0063
a0001c0037t0001g0064
a0002c0002t0001g0097
a0002c0002t0002g0085
a0002c0002t0002g0176
a0003c0003t0001g0126
a0003c0003t0001g0179
a0003c0003t0007g0120
a0007c0009t0002g0003
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0013c0024t0003g0118
a0014c0025t0001g0069
a0022c0028t0005g0032
 24 HG01069.hp1
HG01071.hp1
HG01928.hp1
others(21): Show 
HG01069.hp1
HG01071.hp1
HG01928.hp1
HG01978.hp1
HG02015.hp1
HG02083.hp2
HG02109.hp2
HG02486.hp1
HG02895.hp1
HG02897.hp1
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03209.hp2
HG03579.hp2
NA18906.hp1
NA18946.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18982.hp1
NA19064.hp1
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5525-306T>G
c.5525-306T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134303
chr6:75134463 C
C
 T
T
 2 a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0013t0006g0147
a0005c0013t0006g0148
 2 HG02630.hp1
NA20300.hp2
HG02630.hp1
NA20300.hp2
 intron_variant MODIFIER c.5524+263G>A
c.5524+263G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134463
chr6:75134525 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.5524+201G>A
c.5524+201G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134525
chr6:75134537 C
C
 A
A
 174 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(171): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0043t0001g0078
a0001c0045t0003g0134
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0010c0014t0002g0196
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 178 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(175): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5524+189G>T
c.5524+189G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 32/65 chr6 75134537
chr6:75134884 C
C
 T
T
 98 a0001c0001t0001g0009
a0001c0001t0001g0018
a0001c0001t0001g0025
others(95): Show 
a0001c0001t0001g0009
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0153
a0001c0001t0001g0161
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0003g0150
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0082
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0046t0007g0133
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0022
a0002c0002t0001g0071
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0096
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0002
a0003c0003t0003g0034
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0027t0009g0125
a0003c0032t0003g0029
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0158
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0014c0025t0001g0069
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0025c0047t0005g0192
a0029c0052t0008g0198
a0030c0050t0010g0195
 101 HG00408.hp1
HG00408.hp2
HG00673.hp2
others(98): Show 
HG00408.hp1
HG00408.hp2
HG00673.hp2
HG00741.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03710.hp1
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18747.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18962.hp1
NA18966.hp1
NA18968.hp1
NA18979.hp1
NA18979.hp2
NA18984.hp2
NA18985.hp1
NA18988.hp2
NA18993.hp2
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19063.hp2
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19240.hp2
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5395-29G>A
c.5395-29G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75134884
chr6:75134901 T
T
 C
C
 1 a0013c0024t0003g0118
a0013c0024t0003g0118
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.5395-46A>G
c.5395-46A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75134901
chr6:75134984 C
C
 A
A
 53 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0051
others(50): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0051
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0072
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0130
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0035t0003g0101
a0001c0038t0004g0023
a0001c0043t0001g0078
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0071
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0002g0053
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0027t0009g0125
a0004c0004t0001g0173
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0013t0006g0147
a0005c0013t0006g0148
a0026c0048t0001g0117
 54 HG00408.hp1
HG00673.hp1
HG00673.hp2
others(51): Show 
HG00408.hp1
HG00673.hp1
HG00673.hp2
HG01109.hp2
HG01243.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp2
HG02293.hp1
HG02523.hp1
HG02523.hp2
HG02602.hp2
HG02630.hp1
HG02698.hp1
HG03209.hp2
HG03225.hp1
HG03486.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG04115.hp1
HG04199.hp1
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18952.hp2
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18982.hp1
NA18985.hp1
NA18994.hp2
NA19064.hp1
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19087.hp1
NA19087.hp2
NA20300.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.5395-129G>T
c.5395-129G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75134984
chr6:75135181 AG
AG
 A
A
 4 a0003c0003t0007g0120
a0003c0003t0016g0172
a0028c0053t0007g0199
others(1): Show 
a0003c0003t0007g0120
a0003c0003t0016g0172
a0028c0053t0007g0199
a0030c0050t0010g0195
 4 HG02717.hp2
HG03209.hp2
HG03225.hp1
others(1): Show 
HG02717.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
 intron_variant MODIFIER c.5395-327delC
c.5395-327delC
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135181
chr6:75135208 T
T
 C
C
 134 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0046
others(131): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0046
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0062
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0021
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0080
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0002g0175
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0021t0013g0043
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0014c0025t0001g0069
a0015c0042t0002g0094
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0021c0033t0002g0186
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
 136 HG00408.hp1
HG00438.hp1
HG00438.hp2
others(133): Show 
HG00408.hp1
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01978.hp2
HG02015.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03942.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18952.hp1
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp2
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5395-353A>G
c.5395-353A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135208
chr6:75135260 C
C
 T
T
 12 a0001c0001t0001g0144
a0001c0001t0004g0013
a0001c0001t0021g0201
others(9): Show 
a0001c0001t0001g0144
a0001c0001t0004g0013
a0001c0001t0021g0201
a0001c0019t0005g0048
a0001c0038t0004g0023
a0001c0041t0007g0146
a0002c0002t0001g0015
a0002c0002t0001g0022
a0002c0002t0001g0178
a0003c0003t0001g0190
a0016c0044t0015g0135
a0017c0034t0006g0200
 12 HG00673.hp2
HG02056.hp1
HG02559.hp2
others(9): Show 
HG00673.hp2
HG02056.hp1
HG02559.hp2
HG02698.hp2
HG02895.hp2
HG03195.hp2
HG03486.hp1
HG03540.hp1
NA18747.hp1
NA18962.hp1
NA18966.hp1
NA19070.hp2
 intron_variant MODIFIER c.5395-405G>A
c.5395-405G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135260
chr6:75135295 C
C
 T
T
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.5395-440G>A
c.5395-440G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135295
chr6:75135392 C
C
 A
A
 1 a0003c0003t0003g0177
a0003c0003t0003g0177
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.5395-537G>T
c.5395-537G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135392
chr6:75135397 T
T
 C
C
 125 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(122): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0068
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0124
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0097
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0002g0175
a0002c0054t0003g0193
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0188
a0003c0003t0003g0002
a0003c0003t0003g0034
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0013t0006g0148
a0005c0016t0006g0028
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0018c0036t0005g0149
a0026c0048t0001g0117
a0028c0053t0007g0199
a0030c0050t0010g0195
 128 HG00408.hp1
HG00408.hp2
HG00438.hp2
others(125): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02451.hp2
HG02486.hp1
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18988.hp1
NA18993.hp1
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp2
NA20300.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.5395-542A>G
c.5395-542A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135397
chr6:75135398 G
G
 A
A
 2 a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0002g0017
a0001c0001t0002g0091
 2 NA18993.hp1
NA19091.hp2
NA18993.hp1
NA19091.hp2
 intron_variant MODIFIER c.5395-543C>T
c.5395-543C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135398
chr6:75135468 A
A
 G
G
 164 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0002g0175
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0010c0014t0002g0196
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0018c0036t0005g0149
a0019c0040t0005g0154
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0025c0047t0005g0192
a0026c0048t0001g0117
a0029c0052t0008g0198
 168 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(165): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03209.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.5395-613T>C
c.5395-613T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135468
chr6:75135601 G
G
 A
A
 10 a0001c0001t0004g0013
a0001c0005t0001g0075
a0001c0038t0004g0023
others(7): Show 
a0001c0001t0004g0013
a0001c0005t0001g0075
a0001c0038t0004g0023
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0006t0002g0106
 10 HG00673.hp2
HG01928.hp2
HG02056.hp1
others(7): Show 
HG00673.hp2
HG01928.hp2
HG02056.hp1
HG02071.hp1
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18995.hp2
NA19070.hp1
 intron_variant MODIFIER c.5395-746C>T
c.5395-746C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135601
chr6:75135687 T
T
 C
C
 19 a0001c0001t0003g0150
a0001c0001t0010g0171
a0001c0001t0021g0201
others(16): Show 
a0001c0001t0003g0150
a0001c0001t0010g0171
a0001c0001t0021g0201
a0001c0039t0001g0140
a0001c0041t0007g0146
a0002c0002t0008g0169
a0002c0054t0003g0193
a0003c0003t0003g0177
a0003c0003t0007g0120
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0017c0034t0006g0200
a0020c0030t0020g0202
a0025c0047t0005g0192
a0028c0053t0007g0199
a0030c0050t0010g0195
 19 HG01109.hp2
HG01261.hp1
HG01891.hp1
others(16): Show 
HG01109.hp2
HG01261.hp1
HG01891.hp1
HG02109.hp2
HG02559.hp2
HG02717.hp2
HG02723.hp2
HG02895.hp2
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03540.hp1
HG06807.hp1
NA19030.hp1
NA19030.hp2
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.5395-832A>G
c.5395-832A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135687
chr6:75135724 C
C
 T
T
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.5395-869G>A
c.5395-869G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135724
chr6:75135769 C
C
 T
T
 15 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0174
others(12): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0006t0002g0066
a0002c0023t0005g0123
a0005c0008t0006g0036
a0026c0048t0001g0117
 16 HG02015.hp2
HG02523.hp2
HG02895.hp2
others(13): Show 
HG02015.hp2
HG02523.hp2
HG02895.hp2
HG02965.hp2
HG03098.hp1
HG03195.hp2
HG03516.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA19064.hp1
 intron_variant MODIFIER c.5395-914G>A
c.5395-914G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135769
chr6:75135879 T
T
 G
G
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.5395-1024A>C
c.5395-1024A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75135879
chr6:75136003 C
C
 T
T
 5 a0001c0001t0003g0150
a0001c0001t0021g0201
a0002c0054t0003g0193
others(2): Show 
a0001c0001t0003g0150
a0001c0001t0021g0201
a0002c0054t0003g0193
a0012c0015t0009g0027
a0017c0034t0006g0200
 5 HG02559.hp2
HG03471.hp1
HG03486.hp1
others(2): Show 
HG02559.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG06807.hp1
 intron_variant MODIFIER c.5395-1148G>A
c.5395-1148G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136003
chr6:75136034 G
G
 C
C
 1 a0004c0004t0001g0173
a0004c0004t0001g0173
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.5395-1179C>G
c.5395-1179C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136034
chr6:75136047 C
C
 T
T
 7 a0001c0001t0010g0171
a0001c0045t0003g0134
a0001c0046t0007g0133
others(4): Show 
a0001c0001t0010g0171
a0001c0045t0003g0134
a0001c0046t0007g0133
a0010c0014t0005g0197
a0011c0051t0007g0194
a0028c0053t0007g0199
a0029c0052t0008g0198
 7 HG02109.hp2
HG02647.hp1
HG02723.hp2
others(4): Show 
HG02109.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG03225.hp2
NA19030.hp2
 intron_variant MODIFIER c.5395-1192G>A
c.5395-1192G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136047
chr6:75136311 T
T
 G
G
 24 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(21): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0039t0001g0140
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0023t0005g0123
a0003c0003t0007g0120
a0005c0008t0006g0036
a0011c0049t0003g0166
a0016c0044t0015g0135
a0025c0047t0005g0192
a0026c0048t0001g0117
 25 HG01109.hp2
HG01261.hp1
HG01891.hp1
others(22): Show 
HG01109.hp2
HG01261.hp1
HG01891.hp1
HG02015.hp2
HG02451.hp2
HG02523.hp2
HG02895.hp2
HG02965.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19064.hp1
 intron_variant MODIFIER c.5394+1126A>C
c.5394+1126A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136311
chr6:75136558 C
C
 T
T
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.5394+879G>A
c.5394+879G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136558
chr6:75136559 G
G
 A
A
 1 a0006c0026t0006g0168
a0006c0026t0006g0168
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.5394+878C>T
c.5394+878C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136559
chr6:75136604 C
C
 G
G
 2 a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0138
a0001c0001t0003g0139
 2 HG02976.hp2
NA18906.hp1
HG02976.hp2
NA18906.hp1
 intron_variant MODIFIER c.5394+833G>C
c.5394+833G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136604
chr6:75136671 A
A
 G
G
 58 a0002c0002t0001g0112
a0002c0017t0002g0037
a0003c0003t0001g0031
others(55): Show 
a0002c0002t0001g0112
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0027c0018t0007g0145
 61 HG00438.hp1
HG00673.hp1
HG01069.hp1
others(58): Show 
HG00438.hp1
HG00673.hp1
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02040.hp1
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02735.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18985.hp2
NA18999.hp1
NA19070.hp2
NA19087.hp1
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.5394+766T>C
c.5394+766T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136671
chr6:75136752 T
T
 C
C
 2 a0001c0039t0001g0140
a0016c0044t0015g0135
a0001c0039t0001g0140
a0016c0044t0015g0135
 2 HG01261.hp1
HG03540.hp1
HG01261.hp1
HG03540.hp1
 intron_variant MODIFIER c.5394+685A>G
c.5394+685A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136752
chr6:75136791 C
C
 G
G
 4 a0001c0001t0003g0150
a0001c0001t0021g0201
a0002c0054t0003g0193
others(1): Show 
a0001c0001t0003g0150
a0001c0001t0021g0201
a0002c0054t0003g0193
a0017c0034t0006g0200
 4 HG02559.hp2
HG03471.hp1
HG03486.hp1
others(1): Show 
HG02559.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
 intron_variant MODIFIER c.5394+646G>C
c.5394+646G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136791
chr6:75136923 T
T
 A
A
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.5394+514A>T
c.5394+514A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136923
chr6:75136926 T
T
 C
C
 1 a0003c0003t0001g0110
a0003c0003t0001g0110
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.5394+511A>G
c.5394+511A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75136926
chr6:75137138 G
G
 A
A
 1 a0002c0002t0002g0053
a0002c0002t0002g0053
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.5394+299C>T
c.5394+299C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75137138
chr6:75137284 G
G
 A
A
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.5394+153C>T
c.5394+153C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75137284
chr6:75137320 G
G
 A
A
 91 a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
others(88): Show 
a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0021g0201
a0001c0005t0001g0075
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0016c0044t0015g0135
a0017c0034t0006g0200
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
 95 HG00438.hp1
HG00673.hp1
HG00673.hp2
others(92): Show 
HG00438.hp1
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18945.hp2
NA18946.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19064.hp1
NA19070.hp1
NA19070.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.5394+117C>T
c.5394+117C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 31/65 chr6 75137320
chr6:75137938 C
C
 T
T
 102 a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
others(99): Show 
a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0010g0171
a0001c0001t0021g0201
a0001c0005t0001g0075
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0017c0034t0006g0200
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 106 HG00438.hp1
HG00673.hp1
HG00673.hp2
others(103): Show 
HG00438.hp1
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18945.hp2
NA18946.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19064.hp1
NA19070.hp1
NA19070.hp2
NA19087.hp1
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.5252-359G>A
c.5252-359G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 30/65 chr6 75137938
chr6:75137946 A
A
 T
T
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.5252-367T>A
c.5252-367T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 30/65 chr6 75137946
chr6:75137959 G
G
 A
A
 2 a0001c0001t0001g0104
a0002c0006t0002g0066
a0001c0001t0001g0104
a0002c0006t0002g0066
 2 HG03492.hp2
HG04199.hp2
HG03492.hp2
HG04199.hp2
 intron_variant MODIFIER c.5251+361C>T
c.5251+361C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 30/65 chr6 75137959
chr6:75138018 C
C
 T
T
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.5251+302G>A
c.5251+302G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 30/65 chr6 75138018
chr6:75138033 C
C
 A
A
 1 a0001c0001t0004g0073
a0001c0001t0004g0073
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.5251+287G>T
c.5251+287G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 30/65 chr6 75138033
chr6:75138230 A
A
 T
T
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.5251+90T>A
c.5251+90T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 30/65 chr6 75138230
chr6:75138644 T
T
 C
C
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.5098-64A>G
c.5098-64A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 28/65 chr6 75138644
chr6:75138660 C
C
 T
T
 93 a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
others(90): Show 
a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0021g0201
a0001c0005t0001g0075
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0016c0044t0015g0135
a0017c0034t0006g0200
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
 97 HG00438.hp1
HG00673.hp1
HG00673.hp2
others(94): Show 
HG00438.hp1
HG00673.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01928.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02040.hp1
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02735.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18945.hp2
NA18946.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18985.hp2
NA18994.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19064.hp1
NA19070.hp1
NA19070.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.5098-80G>A
c.5098-80G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 28/65 chr6 75138660
chr6:75138706 G
G
 C
C
 3 a0001c0001t0003g0150
a0001c0001t0021g0201
a0017c0034t0006g0200
a0001c0001t0003g0150
a0001c0001t0021g0201
a0017c0034t0006g0200
 3 HG02559.hp2
HG03471.hp1
HG03486.hp1
HG02559.hp2
HG03471.hp1
HG03486.hp1
 intron_variant MODIFIER c.5097+116C>G
c.5097+116C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 28/65 chr6 75138706
chr6:75139091 A
A
 T
T
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.4958-130T>A
c.4958-130T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75139091
chr6:75139238 T
T
 G
G
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.4958-277A>C
c.4958-277A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75139238
chr6:75139253 A
A
 T
T
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.4958-292T>A
c.4958-292T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75139253
chr6:75139361 A
A
 T
T
 1 a0004c0004t0001g0083
a0004c0004t0001g0083
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.4958-400T>A
c.4958-400T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75139361
chr6:75139510 C
C
 T
T
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4958-549G>A
c.4958-549G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75139510
chr6:75139937 C
C
 T
T
 1 a0003c0003t0001g0188
a0003c0003t0001g0188
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.4958-976G>A
c.4958-976G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75139937
chr6:75140157 A
A
 T
T
 1 a0002c0002t0008g0169
a0002c0002t0008g0169
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.4958-1196T>A
c.4958-1196T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140157
chr6:75140513 G
G
 A
A
 1 a0005c0008t0006g0036
a0005c0008t0006g0036
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.4957+1519C>T
c.4957+1519C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140513
chr6:75140655 C
C
 CA
CA
 22 a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0074
others(19): Show 
a0001c0001t0001g0025
a0001c0001t0001g0054
a0001c0001t0001g0074
a0001c0001t0001g0093
a0001c0001t0001g0121
a0001c0001t0001g0160
a0001c0001t0003g0139
a0001c0001t0004g0090
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0022t0001g0136
a0002c0002t0001g0007
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0102
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0187
a0003c0003t0003g0035
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
 22 HG00741.hp2
HG01243.hp2
HG01891.hp2
others(19): Show 
HG00741.hp2
HG01243.hp2
HG01891.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02080.hp1
HG02083.hp1
HG02723.hp2
HG03492.hp1
HG03579.hp2
HG04115.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp1
NA18985.hp2
NA18994.hp1
NA19030.hp2
NA19084.hp1
NA19084.hp2
NA19090.hp1
NA19090.hp2
 intron_variant MODIFIER c.4957+1376dupT
c.4957+1376dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAA
CAAA
 5 a0001c0001t0001g0004
a0001c0001t0001g0061
a0002c0002t0001g0113
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0002c0002t0001g0113
a0010c0014t0005g0197
a0026c0048t0001g0117
 6 HG02015.hp2
HG02109.hp2
NA18952.hp2
others(3): Show 
HG02015.hp2
HG02109.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA19064.hp1
 intron_variant MODIFIER c.4957+1374_4957+137
others(7): Show 
c.4957+1374_4957+1376dupTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAAAA
CAAAAA
 7 a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
others(4): Show 
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 8 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(5): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.4957+1372_4957+137
others(9): Show 
c.4957+1372_4957+1376dupTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 3 a0001c0039t0001g0140
a0011c0049t0003g0166
a0016c0044t0015g0135
a0001c0039t0001g0140
a0011c0049t0003g0166
a0016c0044t0015g0135
 3 HG01261.hp1
HG01891.hp1
HG03540.hp1
HG01261.hp1
HG01891.hp1
HG03540.hp1
 intron_variant MODIFIER c.4957+1363_4957+137
others(18): Show 
c.4957+1363_4957+1376dupTTTTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 6 a0001c0001t0003g0155
a0001c0005t0005g0170
a0002c0002t0002g0163
others(3): Show 
a0001c0001t0003g0155
a0001c0005t0005g0170
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0017t0002g0037
a0005c0016t0006g0028
 6 HG01109.hp2
HG02451.hp2
HG02965.hp2
others(3): Show 
HG01109.hp2
HG02451.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
 intron_variant MODIFIER c.4957+1362_4957+137
others(19): Show 
c.4957+1362_4957+1376dupTTTTTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAAAAAA
others(11): Show 
CAAAAAAAAAAAAAAAAAA
 2 a0002c0002t0001g0178
a0005c0008t0006g0036
a0002c0002t0001g0178
a0005c0008t0006g0036
 2 NA18522.hp1
NA18747.hp1
NA18522.hp1
NA18747.hp1
 intron_variant MODIFIER c.4957+1359_4957+137
others(22): Show 
c.4957+1359_4957+1376dupTTTTTTTTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAAAAAA
others(12): Show 
CAAAAAAAAAAAAAAAAAAA
 5 a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
others(2): Show 
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0006t0002g0066
 5 HG02523.hp2
HG03492.hp2
HG04199.hp2
others(2): Show 
HG02523.hp2
HG03492.hp2
HG04199.hp2
NA18945.hp2
NA18999.hp2
 intron_variant MODIFIER c.4957+1358_4957+137
others(23): Show 
c.4957+1358_4957+1376dupTTTTTTTTTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAAAAAA
others(17): Show 
CAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0041t0007g0146
a0001c0041t0007g0146
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.4957+1376_4957+137
others(28): Show 
c.4957+1376_4957+1377insTTTTTTTTTTTTTTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 C
C
 CAAAAAAA
others(21): Show 
CAAAAAAAAAAAAAAAAAAAAAAAAAAAA
 1 a0001c0019t0005g0048
a0001c0019t0005g0048
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.4957+1376_4957+137
others(32): Show 
c.4957+1376_4957+1377insTTTTTTTTTTTTTTTTTTTTTTTTTT
TT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140655 CA
CA
 C
C
 7 a0001c0001t0001g0081
a0001c0001t0001g0153
a0001c0001t0002g0017
others(4): Show 
a0001c0001t0001g0081
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0002c0002t0001g0122
a0002c0002t0002g0176
a0003c0003t0001g0188
 7 HG02040.hp1
HG04204.hp1
NA18982.hp1
others(4): Show 
HG02040.hp1
HG04204.hp1
NA18982.hp1
NA18982.hp2
NA18993.hp1
NA19063.hp2
NA19091.hp2
 intron_variant MODIFIER c.4957+1376delT
c.4957+1376delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140655
chr6:75140771 G
G
 T
T
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.4957+1261C>A
c.4957+1261C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140771
chr6:75140773 A
A
 T
T
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.4957+1259T>A
c.4957+1259T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140773
chr6:75140978 C
C
 G
G
 1 a0003c0003t0003g0177
a0003c0003t0003g0177
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4957+1054G>C
c.4957+1054G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75140978
chr6:75141005 C
C
 T
T
 1 a0003c0003t0003g0177
a0003c0003t0003g0177
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4957+1027G>A
c.4957+1027G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141005
chr6:75141010 A
A
 G
G
 1 a0003c0003t0003g0177
a0003c0003t0003g0177
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.4957+1022T>C
c.4957+1022T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141010
chr6:75141465 G
G
 A
A
 51 a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0005t0002g0098
others(48): Show 
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0005t0002g0098
a0002c0002t0001g0060
a0002c0002t0001g0097
a0002c0006t0002g0106
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
 53 HG00408.hp2
HG00438.hp1
HG00673.hp1
others(50): Show 
HG00408.hp2
HG00438.hp1
HG00673.hp1
HG01071.hp2
HG01243.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18984.hp1
NA18985.hp2
NA18999.hp1
NA19070.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.4957+567C>T
c.4957+567C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141465
chr6:75141479 C
C
 T
T
 2 a0001c0039t0001g0140
a0016c0044t0015g0135
a0001c0039t0001g0140
a0016c0044t0015g0135
 2 HG01261.hp1
HG03540.hp1
HG01261.hp1
HG03540.hp1
 intron_variant MODIFIER c.4957+553G>A
c.4957+553G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141479
chr6:75141676 C
C
 A
A
 1 a0003c0003t0001g0111
a0003c0003t0001g0111
 1 NA20905.hp2
NA20905.hp2
 intron_variant MODIFIER c.4957+356G>T
c.4957+356G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141676
chr6:75141738 G
G
 T
T
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.4957+294C>A
c.4957+294C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141738
chr6:75141739 C
C
 T
T
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.4957+293G>A
c.4957+293G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141739
chr6:75141982 G
G
 T
T
 11 a0001c0001t0001g0025
a0001c0001t0004g0013
a0001c0005t0001g0075
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0004g0013
a0001c0005t0001g0075
a0001c0038t0004g0023
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 11 HG00673.hp2
HG01928.hp2
HG02004.hp2
others(8): Show 
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02074.hp2
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18995.hp2
NA19070.hp1
 intron_variant MODIFIER c.4957+50C>A
c.4957+50C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 27/65 chr6 75141982
chr6:75142229 T
T
 C
C
 4 a0001c0001t0001g0062
a0001c0001t0003g0138
a0001c0001t0003g0139
others(1): Show 
a0001c0001t0001g0062
a0001c0001t0003g0138
a0001c0001t0003g0139
a0019c0040t0005g0154
 4 HG02293.hp2
HG02723.hp1
HG02976.hp2
others(1): Show 
HG02293.hp2
HG02723.hp1
HG02976.hp2
NA18906.hp1
 intron_variant MODIFIER c.4828-68A>G
c.4828-68A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 26/65 chr6 75142229
chr6:75142601 A
A
 G
G
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4828-440T>C
c.4828-440T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 26/65 chr6 75142601
chr6:75142770 G
G
 A
A
 1 a0001c0039t0001g0140
a0001c0039t0001g0140
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.4827+482C>T
c.4827+482C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 26/65 chr6 75142770
chr6:75142772 A
A
 G
G
 52 a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0005t0002g0098
others(49): Show 
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0005t0002g0098
a0002c0002t0001g0060
a0002c0002t0001g0097
a0002c0002t0001g0112
a0002c0006t0002g0106
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
 54 HG00408.hp2
HG00438.hp1
HG00673.hp1
others(51): Show 
HG00408.hp2
HG00438.hp1
HG00673.hp1
HG01071.hp2
HG01243.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18984.hp1
NA18985.hp2
NA18999.hp1
NA19070.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.4827+480T>C
c.4827+480T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 26/65 chr6 75142772
chr6:75143061 C
C
 T
T
 3 a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
 3 HG00741.hp1
HG03710.hp2
NA20805.hp1
HG00741.hp1
HG03710.hp2
NA20805.hp1
 intron_variant MODIFIER c.4827+191G>A
c.4827+191G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 26/65 chr6 75143061
chr6:75143090 T
T
 C
C
 16 a0001c0001t0001g0025
a0001c0001t0003g0150
a0001c0001t0004g0013
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0003g0150
a0001c0001t0004g0013
a0001c0001t0021g0201
a0001c0005t0001g0075
a0001c0038t0004g0023
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0012c0015t0009g0027
a0017c0034t0006g0200
 16 HG00673.hp2
HG01928.hp2
HG02004.hp2
others(13): Show 
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02074.hp2
HG02559.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG06807.hp1
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18995.hp2
NA19070.hp1
 intron_variant MODIFIER c.4827+162A>G
c.4827+162A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 26/65 chr6 75143090
chr6:75143400 C
C
 T
T
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.4691-12G>A
c.4691-12G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75143400
chr6:75143568 T
T
 TAAGAAGG
others(304): Show 
TAAGAAGGTTTTTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA
CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT
CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG
CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG
CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC
CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA
AAAAAAAAAAAA
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4691-181_4691-180i
others(313): Show 
c.4691-181_4691-180insTTTTTTTTTTTTTTTTTGAGACGGAGTC
TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC
AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT
AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT
TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT
GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC
GTGAGCCACCGCGCCCGGCCGAAAAACCTTCTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75143568
chr6:75143958 C
C
 A
A
 51 a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
others(48): Show 
a0001c0001t0001g0004
a0001c0001t0001g0025
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0021g0201
a0001c0005t0001g0075
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0002c0054t0003g0193
a0005c0008t0006g0036
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0005g0197
a0011c0049t0003g0166
a0012c0015t0009g0027
a0016c0044t0015g0135
a0017c0034t0006g0200
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0030c0050t0010g0195
 53 HG00673.hp2
HG01069.hp1
HG01071.hp1
others(50): Show 
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01261.hp1
HG01891.hp1
HG01928.hp2
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02074.hp2
HG02109.hp2
HG02145.hp1
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp2
HG02717.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG04199.hp2
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18946.hp2
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18994.hp2
NA18995.hp2
NA18999.hp2
NA19030.hp1
NA19064.hp1
NA19070.hp1
 intron_variant MODIFIER c.4691-570G>T
c.4691-570G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75143958
chr6:75144098 G
G
 A
A
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.4691-710C>T
c.4691-710C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144098
chr6:75144146 C
C
 T
T
 1 a0022c0028t0005g0032
a0022c0028t0005g0032
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.4691-758G>A
c.4691-758G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144146
chr6:75144249 A
A
 G
G
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4691-861T>C
c.4691-861T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144249
chr6:75144422 C
C
 T
T
 1 a0001c0005t0005g0129
a0001c0005t0005g0129
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.4690+904G>A
c.4690+904G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144422
chr6:75144713 G
G
 A
A
 3 a0001c0039t0001g0140
a0016c0044t0015g0135
a0025c0047t0005g0192
a0001c0039t0001g0140
a0016c0044t0015g0135
a0025c0047t0005g0192
 3 HG01261.hp1
HG03540.hp1
NA19030.hp1
HG01261.hp1
HG03540.hp1
NA19030.hp1
 intron_variant MODIFIER c.4690+613C>T
c.4690+613C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144713
chr6:75144852 A
A
 G
G
 2 a0001c0039t0001g0140
a0016c0044t0015g0135
a0001c0039t0001g0140
a0016c0044t0015g0135
 2 HG01261.hp1
HG03540.hp1
HG01261.hp1
HG03540.hp1
 intron_variant MODIFIER c.4690+474T>C
c.4690+474T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144852
chr6:75144919 A
A
 T
T
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4690+407T>A
c.4690+407T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144919
chr6:75144920 T
T
 C
C
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4690+406A>G
c.4690+406A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75144920
chr6:75145127 A
A
 G
G
 11 a0001c0001t0001g0025
a0001c0001t0004g0013
a0001c0005t0001g0075
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0004g0013
a0001c0005t0001g0075
a0001c0038t0004g0023
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 11 HG00673.hp2
HG01928.hp2
HG02004.hp2
others(8): Show 
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02074.hp2
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18995.hp2
NA19070.hp1
 intron_variant MODIFIER c.4690+199T>C
c.4690+199T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75145127
chr6:75145138 C
C
 A
A
 3 a0001c0039t0001g0140
a0016c0044t0015g0135
a0025c0047t0005g0192
a0001c0039t0001g0140
a0016c0044t0015g0135
a0025c0047t0005g0192
 3 HG01261.hp1
HG03540.hp1
NA19030.hp1
HG01261.hp1
HG03540.hp1
NA19030.hp1
 intron_variant MODIFIER c.4690+188G>T
c.4690+188G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75145138
chr6:75145141 A
A
 G
G
 3 a0001c0039t0001g0140
a0016c0044t0015g0135
a0025c0047t0005g0192
a0001c0039t0001g0140
a0016c0044t0015g0135
a0025c0047t0005g0192
 3 HG01261.hp1
HG03540.hp1
NA19030.hp1
HG01261.hp1
HG03540.hp1
NA19030.hp1
 intron_variant MODIFIER c.4690+185T>C
c.4690+185T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 25/65 chr6 75145141
chr6:75145535 T
T
 C
C
 24 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(21): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0039t0001g0140
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0005c0008t0006g0036
a0005c0016t0006g0028
a0010c0014t0005g0197
a0011c0049t0003g0166
a0016c0044t0015g0135
a0025c0047t0005g0192
a0026c0048t0001g0117
 25 HG01109.hp2
HG01261.hp1
HG01891.hp1
others(22): Show 
HG01109.hp2
HG01261.hp1
HG01891.hp1
HG02015.hp2
HG02109.hp2
HG02451.hp2
HG02523.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03492.hp2
HG03540.hp1
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19064.hp1
 intron_variant MODIFIER c.4561-80A>G
c.4561-80A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145535
chr6:75145611 C
C
 CT
CT
 16 a0001c0001t0001g0025
a0001c0001t0002g0091
a0001c0001t0004g0013
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0002g0091
a0001c0001t0004g0013
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0038t0004g0023
a0001c0046t0007g0133
a0002c0002t0001g0007
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0021c0033t0002g0186
 16 HG00673.hp2
HG01928.hp2
HG02004.hp2
others(13): Show 
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02074.hp2
HG02818.hp1
HG03704.hp1
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18995.hp2
NA19070.hp1
 intron_variant MODIFIER c.4561-157dupA
c.4561-157dupA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145611
chr6:75145611 C
C
 CTTT
CTTT
 18 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(15): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0017t0002g0037
a0005c0016t0006g0028
a0010c0014t0005g0197
a0011c0049t0003g0166
a0026c0048t0001g0117
 19 HG01109.hp2
HG01891.hp1
HG02015.hp2
others(16): Show 
HG01109.hp2
HG01891.hp1
HG02015.hp2
HG02109.hp2
HG02451.hp2
HG02523.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19064.hp1
 intron_variant MODIFIER c.4561-159_4561-157d
others(5): Show 
c.4561-159_4561-157dupAAA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145611
chr6:75145611 CT
CT
 C
C
 5 a0001c0001t0003g0162
a0001c0039t0001g0140
a0012c0015t0009g0027
others(2): Show 
a0001c0001t0003g0162
a0001c0039t0001g0140
a0012c0015t0009g0027
a0016c0044t0015g0135
a0025c0047t0005g0192
 5 HG01261.hp1
HG03540.hp1
HG06807.hp1
others(2): Show 
HG01261.hp1
HG03540.hp1
HG06807.hp1
NA19030.hp1
NA19240.hp2
 intron_variant MODIFIER c.4561-157delA
c.4561-157delA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145611
chr6:75145718 A
A
 G
G
 11 a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
others(8): Show 
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
a0027c0018t0007g0145
a0030c0050t0010g0195
 12 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(9): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02145.hp1
HG02572.hp2
HG02717.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
 intron_variant MODIFIER c.4561-263T>C
c.4561-263T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145718
chr6:75145820 C
C
 T
T
 21 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(18): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0005c0008t0006g0036
a0005c0016t0006g0028
a0010c0014t0005g0197
a0011c0049t0003g0166
a0026c0048t0001g0117
 22 HG01109.hp2
HG01891.hp1
HG02015.hp2
others(19): Show 
HG01109.hp2
HG01891.hp1
HG02015.hp2
HG02109.hp2
HG02451.hp2
HG02523.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03492.hp2
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19064.hp1
 intron_variant MODIFIER c.4560+282G>A
c.4560+282G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145820
chr6:75145852 G
G
 A
A
 1 a0002c0006t0002g0119
a0002c0006t0002g0119
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.4560+250C>T
c.4560+250C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145852
chr6:75145999 C
C
 T
T
 24 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(21): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0039t0001g0140
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0005c0008t0006g0036
a0005c0016t0006g0028
a0010c0014t0005g0197
a0011c0049t0003g0166
a0016c0044t0015g0135
a0025c0047t0005g0192
a0026c0048t0001g0117
 25 HG01109.hp2
HG01261.hp1
HG01891.hp1
others(22): Show 
HG01109.hp2
HG01261.hp1
HG01891.hp1
HG02015.hp2
HG02109.hp2
HG02451.hp2
HG02523.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03492.hp2
HG03540.hp1
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp1
NA19064.hp1
 intron_variant MODIFIER c.4560+103G>A
c.4560+103G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 24/65 chr6 75145999
chr6:75146372 G
G
 C
C
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.4418-128C>G
c.4418-128C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75146372
chr6:75146601 T
T
 C
C
 1 a0010c0014t0002g0196
a0010c0014t0002g0196
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.4418-357A>G
c.4418-357A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75146601
chr6:75146838 A
A
 G
G
 52 a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0005t0002g0098
others(49): Show 
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0005t0002g0098
a0002c0002t0001g0060
a0002c0002t0001g0097
a0002c0002t0001g0112
a0002c0006t0002g0106
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
 54 HG00408.hp2
HG00438.hp1
HG00673.hp1
others(51): Show 
HG00408.hp2
HG00438.hp1
HG00673.hp1
HG01071.hp2
HG01243.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02040.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02145.hp2
HG02486.hp1
HG02486.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp2
HG03540.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18906.hp2
NA18944.hp1
NA18984.hp1
NA18985.hp2
NA18999.hp1
NA19070.hp2
NA19087.hp1
NA19087.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.4418-594T>C
c.4418-594T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75146838
chr6:75146999 C
C
 T
T
 21 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(18): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0005c0008t0006g0036
a0005c0016t0006g0028
a0010c0014t0005g0197
a0011c0049t0003g0166
a0026c0048t0001g0117
 22 HG01109.hp2
HG01891.hp1
HG02015.hp2
others(19): Show 
HG01109.hp2
HG01891.hp1
HG02015.hp2
HG02109.hp2
HG02451.hp2
HG02523.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03492.hp2
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19064.hp1
 intron_variant MODIFIER c.4417+676G>A
c.4417+676G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75146999
chr6:75147025 G
G
 T
T
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.4417+650C>A
c.4417+650C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75147025
chr6:75147072 G
G
 A
A
 1 a0005c0016t0006g0028
a0005c0016t0006g0028
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.4417+603C>T
c.4417+603C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75147072
chr6:75147449 G
G
 T
T
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.4417+226C>A
c.4417+226C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75147449
chr6:75147487 C
C
 A
A
 5 a0001c0001t0003g0150
a0001c0001t0021g0201
a0002c0054t0003g0193
others(2): Show 
a0001c0001t0003g0150
a0001c0001t0021g0201
a0002c0054t0003g0193
a0012c0015t0009g0027
a0017c0034t0006g0200
 5 HG02559.hp2
HG03471.hp1
HG03486.hp1
others(2): Show 
HG02559.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG06807.hp1
 intron_variant MODIFIER c.4417+188G>T
c.4417+188G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75147487
chr6:75147577 T
T
 C
C
 16 a0001c0001t0001g0025
a0001c0001t0003g0150
a0001c0001t0004g0013
others(13): Show 
a0001c0001t0001g0025
a0001c0001t0003g0150
a0001c0001t0004g0013
a0001c0001t0021g0201
a0001c0005t0001g0075
a0001c0038t0004g0023
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0012c0015t0009g0027
a0017c0034t0006g0200
 16 HG00673.hp2
HG01928.hp2
HG02004.hp2
others(13): Show 
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02074.hp2
HG02559.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG06807.hp1
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18995.hp2
NA19070.hp1
 intron_variant MODIFIER c.4417+98A>G
c.4417+98A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75147577
chr6:75147582 T
T
 G
G
 1 a0001c0038t0004g0023
a0001c0038t0004g0023
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.4417+93A>C
c.4417+93A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 23/65 chr6 75147582
chr6:75148004 G
G
 A
A
 2 a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0007t0006g0039
a0006c0007t0006g0040
 2 HG03209.hp1
HG03516.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.4288-200C>T
c.4288-200C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 22/65 chr6 75148004
chr6:75148038 T
T
 C
C
 11 a0001c0001t0001g0025
a0001c0001t0004g0013
a0001c0005t0001g0075
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0004g0013
a0001c0005t0001g0075
a0001c0038t0004g0023
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 11 HG00673.hp2
HG01928.hp2
HG02004.hp2
others(8): Show 
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02074.hp2
NA18946.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18995.hp2
NA19070.hp1
 intron_variant MODIFIER c.4288-234A>G
c.4288-234A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 22/65 chr6 75148038
chr6:75148110 G
G
 GA
GA
 27 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(24): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0001t0010g0171
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0041t0007g0146
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0005c0008t0006g0036
a0005c0016t0006g0028
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0026c0048t0001g0117
a0028c0053t0007g0199
a0029c0052t0008g0198
 28 HG01109.hp2
HG01891.hp1
HG02015.hp2
others(25): Show 
HG01109.hp2
HG01891.hp1
HG02015.hp2
HG02109.hp2
HG02451.hp2
HG02523.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03492.hp2
HG04199.hp2
NA18522.hp1
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19030.hp2
NA19064.hp1
 intron_variant MODIFIER c.4287+247dupT
c.4287+247dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 22/65 chr6 75148110
chr6:75148191 C
C
 T
T
 76 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(73): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0010g0171
a0001c0001t0021g0201
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0041t0007g0146
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0002t0002g0163
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0016t0006g0028
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0017c0034t0006g0200
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0026c0048t0001g0117
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 79 HG00438.hp1
HG00673.hp1
HG01071.hp2
others(76): Show 
HG00438.hp1
HG00673.hp1
HG01071.hp2
HG01109.hp2
HG01243.hp2
HG01261.hp2
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01975.hp2
HG01978.hp1
HG02004.hp1
HG02015.hp2
HG02040.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp2
HG03704.hp1
HG03710.hp1
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18985.hp2
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp2
NA19064.hp1
NA19070.hp2
NA19087.hp1
NA19087.hp2
NA20805.hp2
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.4287+167G>A
c.4287+167G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 22/65 chr6 75148191
chr6:75148670 G
G
 A
A
 23 a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
others(20): Show 
a0001c0001t0001g0004
a0001c0001t0001g0061
a0001c0001t0001g0076
a0001c0001t0001g0104
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0003g0155
a0001c0019t0005g0048
a0001c0041t0007g0146
a0002c0002t0001g0113
a0002c0002t0001g0178
a0002c0006t0002g0066
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 25 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(22): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02015.hp2
HG02145.hp1
HG02523.hp2
HG02572.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG03195.hp2
HG03209.hp1
HG03492.hp2
HG03516.hp1
HG03579.hp1
HG04199.hp2
NA18747.hp1
NA18945.hp2
NA18952.hp2
NA18966.hp2
NA18994.hp2
NA18999.hp2
NA19064.hp1
 intron_variant MODIFIER c.4148-173C>T
c.4148-173C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75148670
chr6:75149095 C
C
 T
T
 2 a0001c0001t0001g0104
a0002c0006t0002g0066
a0001c0001t0001g0104
a0002c0006t0002g0066
 2 HG03492.hp2
HG04199.hp2
HG03492.hp2
HG04199.hp2
 intron_variant MODIFIER c.4148-598G>A
c.4148-598G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149095
chr6:75149121 G
G
 A
A
 1 a0003c0003t0001g0114
a0003c0003t0001g0114
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.4148-624C>T
c.4148-624C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149121
chr6:75149348 G
G
 T
T
 1 a0002c0006t0002g0106
a0002c0006t0002g0106
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.4148-851C>A
c.4148-851C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149348
chr6:75149485 G
G
 A
A
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.4148-988C>T
c.4148-988C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149485
chr6:75149622 G
G
 T
T
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.4148-1125C>A
c.4148-1125C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149622
chr6:75149892 A
A
 G
G
 11 a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
others(8): Show 
a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 12 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(9): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.4147+1249T>C
c.4147+1249T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149892
chr6:75149905 A
A
 T
T
 25 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(22): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 25 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(22): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02976.hp1
HG03195.hp1
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.4147+1236T>A
c.4147+1236T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149905
chr6:75149919 T
T
 C
C
 23 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(20): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0011c0049t0003g0166
 23 HG00408.hp1
HG00673.hp2
HG01891.hp1
others(20): Show 
HG00408.hp1
HG00673.hp2
HG01891.hp1
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.4147+1222A>G
c.4147+1222A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149919
chr6:75149995 T
T
 C
C
 11 a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
others(8): Show 
a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 12 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(9): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.4147+1146A>G
c.4147+1146A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75149995
chr6:75150174 C
C
 A
A
 2 a0001c0001t0001g0121
a0002c0002t0001g0122
a0001c0001t0001g0121
a0002c0002t0001g0122
 2 NA19063.hp2
NA19090.hp2
NA19063.hp2
NA19090.hp2
 intron_variant MODIFIER c.4147+967G>T
c.4147+967G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75150174
chr6:75150253 T
T
 G
G
 1 a0005c0008t0006g0036
a0005c0008t0006g0036
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.4147+888A>C
c.4147+888A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75150253
chr6:75150631 G
G
 T
T
 2 a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0015
a0002c0002t0001g0016
 2 HG00673.hp2
NA19070.hp1
HG00673.hp2
NA19070.hp1
 intron_variant MODIFIER c.4147+510C>A
c.4147+510C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75150631
chr6:75150690 T
T
 A
A
 27 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(24): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0025c0047t0005g0192
a0027c0018t0007g0145
 27 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(24): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02145.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.4147+451A>T
c.4147+451A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75150690
chr6:75150717 A
A
 G
G
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.4147+424T>C
c.4147+424T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75150717
chr6:75150905 C
C
 T
T
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.4147+236G>A
c.4147+236G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75150905
chr6:75151069 C
C
 G
G
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.4147+72G>C
c.4147+72G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75151069
chr6:75151070 A
A
 AC
AC
 3 a0001c0001t0021g0201
a0003c0003t0007g0120
a0017c0034t0006g0200
a0001c0001t0021g0201
a0003c0003t0007g0120
a0017c0034t0006g0200
 3 HG02559.hp2
HG03209.hp2
HG03486.hp1
HG02559.hp2
HG03209.hp2
HG03486.hp1
 intron_variant MODIFIER c.4147+70dupG
c.4147+70dupG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 21/65 chr6 75151070
chr6:75151297 C
C
 T
T
 11 a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
others(8): Show 
a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 12 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(9): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.4001-10G>A
c.4001-10G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/65 chr6 75151297
chr6:75151325 C
C
 T
T
 2 a0025c0047t0005g0192
a0027c0018t0007g0145
a0025c0047t0005g0192
a0027c0018t0007g0145
 2 HG02145.hp1
NA19030.hp1
HG02145.hp1
NA19030.hp1
 intron_variant MODIFIER c.4001-38G>A
c.4001-38G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/65 chr6 75151325
chr6:75151668 C
C
 T
T
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.4000+199G>A
c.4000+199G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/65 chr6 75151668
chr6:75151714 G
G
 A
A
 38 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(35): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0021t0013g0043
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
 39 HG00408.hp1
HG00673.hp2
HG01069.hp1
others(36): Show 
HG00408.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02145.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.4000+153C>T
c.4000+153C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/65 chr6 75151714
chr6:75151769 G
G
 GT
GT
 10 a0002c0002t0001g0015
a0002c0002t0001g0016
a0003c0003t0001g0031
others(7): Show 
a0002c0002t0001g0015
a0002c0002t0001g0016
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 11 HG00673.hp2
HG02109.hp1
HG02572.hp1
others(8): Show 
HG00673.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
NA19070.hp1
 intron_variant MODIFIER c.4000+97dupA
c.4000+97dupA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/65 chr6 75151769
chr6:75151770 T
T
 G
G
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.4000+97A>C
c.4000+97A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/65 chr6 75151770
chr6:75151771 A
A
 T
T
 49 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(46): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0049t0003g0166
a0012c0015t0009g0027
a0022c0028t0005g0032
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 51 HG00408.hp1
HG00673.hp2
HG01069.hp1
others(48): Show 
HG00408.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01891.hp1
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.4000+96T>A
c.4000+96T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 20/65 chr6 75151771
chr6:75152300 T
T
 A
A
 10 a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
others(7): Show 
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 11 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(8): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.3715+33A>T
c.3715+33A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 18/65 chr6 75152300
chr6:75152757 C
C
 T
T
 8 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(5): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 9 HG02109.hp1
HG02572.hp1
HG02615.hp1
others(6): Show 
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.3566-275G>A
c.3566-275G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75152757
chr6:75152874 A
A
 C
C
 2 a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0159
a0001c0001t0001g0160
 2 HG03491.hp2
HG03492.hp1
HG03491.hp2
HG03492.hp1
 intron_variant MODIFIER c.3566-392T>G
c.3566-392T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75152874
chr6:75153004 T
T
 C
C
 2 a0025c0047t0005g0192
a0027c0018t0007g0145
a0025c0047t0005g0192
a0027c0018t0007g0145
 2 HG02145.hp1
NA19030.hp1
HG02145.hp1
NA19030.hp1
 intron_variant MODIFIER c.3566-522A>G
c.3566-522A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75153004
chr6:75153078 C
C
 T
T
 1 a0001c0001t0001g0104
a0001c0001t0001g0104
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.3566-596G>A
c.3566-596G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75153078
chr6:75153115 ATAT
ATAT
 A
A
 2 a0003c0003t0016g0172
a0005c0008t0006g0036
a0003c0003t0016g0172
a0005c0008t0006g0036
 2 HG03225.hp1
NA18522.hp1
HG03225.hp1
NA18522.hp1
 intron_variant MODIFIER c.3566-636_3566-634d
others(5): Show 
c.3566-636_3566-634delATA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75153115
chr6:75153186 G
G
 A
A
 11 a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
others(8): Show 
a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 12 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(9): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.3566-704C>T
c.3566-704C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75153186
chr6:75153264 A
A
 C
C
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.3566-782T>G
c.3566-782T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75153264
chr6:75153419 A
A
 G
G
 1 a0004c0004t0001g0189
a0004c0004t0001g0189
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.3566-937T>C
c.3566-937T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75153419
chr6:75154087 G
G
 A
A
 38 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(35): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0021t0013g0043
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
 39 HG00408.hp1
HG00673.hp2
HG01069.hp1
others(36): Show 
HG00408.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02145.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03195.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
HG06807.hp1
NA18522.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.3565+329C>T
c.3565+329C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75154087
chr6:75154381 T
T
 C
C
 10 a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
others(7): Show 
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 11 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(8): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.3565+35A>G
c.3565+35A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75154381
chr6:75154395 G
G
 A
A
 3 a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
 3 HG01109.hp2
HG02559.hp1
HG03098.hp1
HG01109.hp2
HG02559.hp1
HG03098.hp1
 intron_variant MODIFIER c.3565+21C>T
c.3565+21C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 17/65 chr6 75154395
chr6:75154560 T
T
 G
G
 26 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(23): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0087
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 26 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(23): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02976.hp1
HG03195.hp1
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.3444-23A>C
c.3444-23A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75154560
chr6:75154594 CT
CT
 C
C
 11 a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
others(8): Show 
a0002c0054t0003g0193
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 12 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(9): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03486.hp2
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.3444-58delA
c.3444-58delA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75154594
chr6:75154649 A
A
 C
C
 8 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(5): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 9 HG02109.hp1
HG02572.hp1
HG02615.hp1
others(6): Show 
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.3444-112T>G
c.3444-112T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75154649
chr6:75154693 C
C
 T
T
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.3444-156G>A
c.3444-156G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75154693
chr6:75154956 A
A
 T
T
 1 a0001c0001t0004g0105
a0001c0001t0004g0105
 1 NA18979.hp2
NA18979.hp2
 intron_variant MODIFIER c.3444-419T>A
c.3444-419T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75154956
chr6:75155314 T
T
 C
C
 72 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(69): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0032t0003g0029
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0012t0011g0005
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0011c0049t0003g0166
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0022c0028t0005g0032
a0024c0020t0007g0047
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 74 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(71): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG01109.hp2
HG01891.hp1
HG01928.hp2
HG02004.hp2
HG02040.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.3443+348A>G
c.3443+348A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75155314
chr6:75155315 G
G
 A
A
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.3443+347C>T
c.3443+347C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75155315
chr6:75155502 A
A
 G
G
 1 a0004c0004t0001g0083
a0004c0004t0001g0083
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.3443+160T>C
c.3443+160T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75155502
chr6:75155613 TG
TG
 T
T
 3 a0011c0049t0003g0166
a0028c0053t0007g0199
a0030c0050t0010g0195
a0011c0049t0003g0166
a0028c0053t0007g0199
a0030c0050t0010g0195
 3 HG01891.hp1
HG02717.hp2
HG03225.hp2
HG01891.hp1
HG02717.hp2
HG03225.hp2
 intron_variant MODIFIER c.3443+48delC
c.3443+48delC
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75155613
chr6:75155614 G
G
 T
T
 32 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(29): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0016t0006g0028
a0012c0015t0009g0027
a0022c0028t0005g0032
 33 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(30): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.3443+48C>A
c.3443+48C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 16/65 chr6 75155614
chr6:75156156 C
C
 T
T
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.3250+101G>A
c.3250+101G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 15/65 chr6 75156156
chr6:75156582 C
C
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.2984-59G>A
c.2984-59G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75156582
chr6:75156713 G
G
 T
T
 1 a0013c0024t0003g0118
a0013c0024t0003g0118
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2984-190C>A
c.2984-190C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75156713
chr6:75156750 T
T
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2984-227A>G
c.2984-227A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75156750
chr6:75156808 T
T
 A
A
 31 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(28): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
a0027c0018t0007g0145
 32 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(29): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2984-285A>T
c.2984-285A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75156808
chr6:75156907 G
G
 A
A
 1 a0001c0001t0003g0162
a0001c0001t0003g0162
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2984-384C>T
c.2984-384C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75156907
chr6:75157163 C
C
 T
T
 1 a0030c0050t0010g0195
a0030c0050t0010g0195
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.2984-640G>A
c.2984-640G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157163
chr6:75157164 G
G
 A
A
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.2984-641C>T
c.2984-641C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157164
chr6:75157218 G
G
 A
A
 1 a0003c0003t0001g0188
a0003c0003t0001g0188
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.2984-695C>T
c.2984-695C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157218
chr6:75157251 T
T
 C
C
 31 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(28): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
a0027c0018t0007g0145
 32 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(29): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2984-728A>G
c.2984-728A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157251
chr6:75157396 C
C
 T
T
 2 a0028c0053t0007g0199
a0030c0050t0010g0195
a0028c0053t0007g0199
a0030c0050t0010g0195
 2 HG02717.hp2
HG03225.hp2
HG02717.hp2
HG03225.hp2
 intron_variant MODIFIER c.2984-873G>A
c.2984-873G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157396
chr6:75157397 G
G
 A
A
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.2984-874C>T
c.2984-874C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157397
chr6:75157441 GA
GA
 G
G
 17 a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
others(14): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0004c0004t0001g0173
a0004c0004t0001g0189
a0021c0033t0002g0186
 17 HG00621.hp1
HG02040.hp1
HG02486.hp1
others(14): Show 
HG00621.hp1
HG02040.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp2
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp2
NA18982.hp1
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2984-919delT
c.2984-919delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157441
chr6:75157589 T
T
 C
C
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2984-1066A>G
c.2984-1066A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157589
chr6:75157973 A
A
 G
G
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.2984-1450T>C
c.2984-1450T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75157973
chr6:75158142 T
T
 G
G
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2984-1619A>C
c.2984-1619A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75158142
chr6:75158318 C
C
 T
T
 8 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(5): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 9 HG02109.hp1
HG02572.hp1
HG02615.hp1
others(6): Show 
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.2984-1795G>A
c.2984-1795G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75158318
chr6:75158631 T
T
 C
C
 17 a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
others(14): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0004c0004t0001g0173
a0004c0004t0001g0189
a0021c0033t0002g0186
 17 HG00621.hp1
HG02040.hp1
HG02486.hp1
others(14): Show 
HG00621.hp1
HG02040.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp2
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp2
NA18982.hp1
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2984-2108A>G
c.2984-2108A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75158631
chr6:75158679 A
A
 T
T
 7 a0001c0001t0001g0055
a0001c0001t0001g0065
a0001c0001t0019g0077
others(4): Show 
a0001c0001t0001g0055
a0001c0001t0001g0065
a0001c0001t0019g0077
a0001c0043t0001g0078
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0002g0085
 7 HG00438.hp2
HG00621.hp2
HG02056.hp2
others(4): Show 
HG00438.hp2
HG00621.hp2
HG02056.hp2
HG02083.hp1
HG02523.hp1
NA18946.hp1
NA18952.hp1
 intron_variant MODIFIER c.2984-2156T>A
c.2984-2156T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75158679
chr6:75158823 A
A
 C
C
 1 a0001c0041t0007g0146
a0001c0041t0007g0146
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.2984-2300T>G
c.2984-2300T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75158823
chr6:75158842 A
A
 T
T
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2984-2319T>A
c.2984-2319T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75158842
chr6:75158932 G
G
 A
A
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.2984-2409C>T
c.2984-2409C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75158932
chr6:75159032 C
C
 T
T
 3 a0001c0001t0001g0046
a0001c0035t0003g0101
a0005c0008t0006g0128
a0001c0001t0001g0046
a0001c0035t0003g0101
a0005c0008t0006g0128
 3 HG01069.hp2
HG02886.hp2
NA21309.hp2
HG01069.hp2
HG02886.hp2
NA21309.hp2
 intron_variant MODIFIER c.2984-2509G>A
c.2984-2509G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159032
chr6:75159180 A
A
 G
G
 31 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(28): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
a0027c0018t0007g0145
 32 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(29): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2984-2657T>C
c.2984-2657T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159180
chr6:75159219 C
C
 T
T
 1 a0001c0001t0004g0115
a0001c0001t0004g0115
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.2984-2696G>A
c.2984-2696G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159219
chr6:75159278 T
T
 G
G
 15 a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
others(12): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0004g0049
a0004c0004t0001g0173
a0004c0004t0001g0189
a0021c0033t0002g0186
 15 HG00621.hp1
HG02040.hp1
HG02486.hp1
others(12): Show 
HG00621.hp1
HG02040.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp2
NA18982.hp1
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2984-2755A>C
c.2984-2755A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159278
chr6:75159338 A
A
 C
C
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.2984-2815T>G
c.2984-2815T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159338
chr6:75159547 A
A
 G
G
 1 a0001c0005t0005g0170
a0001c0005t0005g0170
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2984-3024T>C
c.2984-3024T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159547
chr6:75159721 G
G
 A
A
 1 a0013c0024t0003g0118
a0013c0024t0003g0118
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2984-3198C>T
c.2984-3198C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159721
chr6:75159850 C
C
 CA
CA
 31 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(28): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
a0027c0018t0007g0145
 32 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(29): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2984-3328dupT
c.2984-3328dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75159850
chr6:75160178 T
T
 C
C
 6 a0001c0001t0001g0009
a0001c0001t0001g0011
a0002c0002t0001g0006
others(3): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
 6 HG02071.hp2
NA18968.hp2
NA18988.hp1
others(3): Show 
HG02071.hp2
NA18968.hp2
NA18988.hp1
NA18994.hp1
NA19066.hp2
NA19068.hp2
 intron_variant MODIFIER c.2984-3655A>G
c.2984-3655A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160178
chr6:75160189 C
C
 T
T
 1 a0002c0002t0001g0178
a0002c0002t0001g0178
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.2984-3666G>A
c.2984-3666G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160189
chr6:75160315 A
A
 G
G
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2984-3792T>C
c.2984-3792T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160315
chr6:75160321 T
T
 C
C
 3 a0011c0049t0003g0166
a0028c0053t0007g0199
a0030c0050t0010g0195
a0011c0049t0003g0166
a0028c0053t0007g0199
a0030c0050t0010g0195
 3 HG01891.hp1
HG02717.hp2
HG03225.hp2
HG01891.hp1
HG02717.hp2
HG03225.hp2
 intron_variant MODIFIER c.2984-3798A>G
c.2984-3798A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160321
chr6:75160388 A
A
 G
G
 4 a0001c0001t0010g0171
a0010c0014t0005g0197
a0011c0051t0007g0194
others(1): Show 
a0001c0001t0010g0171
a0010c0014t0005g0197
a0011c0051t0007g0194
a0029c0052t0008g0198
 4 HG02109.hp2
HG02647.hp1
HG02723.hp2
others(1): Show 
HG02109.hp2
HG02647.hp1
HG02723.hp2
NA19030.hp2
 intron_variant MODIFIER c.2984-3865T>C
c.2984-3865T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160388
chr6:75160459 C
C
 A
A
 2 a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0079
a0002c0002t0001g0080
 2 HG00438.hp2
HG00621.hp2
HG00438.hp2
HG00621.hp2
 intron_variant MODIFIER c.2984-3936G>T
c.2984-3936G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160459
chr6:75160583 T
T
 G
G
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2984-4060A>C
c.2984-4060A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160583
chr6:75160723 C
C
 T
T
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2984-4200G>A
c.2984-4200G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160723
chr6:75160774 A
A
 G
G
 31 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(28): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
a0027c0018t0007g0145
 32 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(29): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2984-4251T>C
c.2984-4251T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75160774
chr6:75161339 T
T
 C
C
 1 a0005c0016t0006g0028
a0005c0016t0006g0028
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2983+4168A>G
c.2983+4168A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75161339
chr6:75161984 T
T
 TG
TG
 31 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(28): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
a0027c0018t0007g0145
 32 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(29): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2983+3522_2983+352
others(5): Show 
c.2983+3522_2983+3523insC
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75161984
chr6:75162248 C
C
 T
T
 24 a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0005t0005g0170
others(21): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0005t0005g0170
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0006c0026t0006g0168
a0016c0044t0015g0135
a0021c0033t0002g0186
 24 HG00621.hp1
HG01109.hp2
HG02040.hp1
others(21): Show 
HG00621.hp1
HG01109.hp2
HG02040.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp2
NA18982.hp1
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2983+3259G>A
c.2983+3259G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75162248
chr6:75162249 T
T
 C
C
 3 a0003c0003t0003g0035
a0003c0003t0003g0156
a0004c0004t0003g0157
a0003c0003t0003g0035
a0003c0003t0003g0156
a0004c0004t0003g0157
 3 HG01891.hp2
HG02486.hp2
NA18906.hp2
HG01891.hp2
HG02486.hp2
NA18906.hp2
 intron_variant MODIFIER c.2983+3258A>G
c.2983+3258A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75162249
chr6:75162299 C
C
 T
T
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2983+3208G>A
c.2983+3208G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75162299
chr6:75162607 G
G
 C
C
 2 a0001c0001t0022g0063
a0001c0037t0001g0064
a0001c0001t0022g0063
a0001c0037t0001g0064
 2 HG01928.hp1
NA20300.hp1
HG01928.hp1
NA20300.hp1
 intron_variant MODIFIER c.2983+2900C>G
c.2983+2900C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75162607
chr6:75162835 T
T
 C
C
 1 a0006c0007t0005g0044
a0006c0007t0005g0044
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.2983+2672A>G
c.2983+2672A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75162835
chr6:75162862 G
G
 A
A
 2 a0003c0003t0001g0182
a0003c0003t0001g0190
a0003c0003t0001g0182
a0003c0003t0001g0190
 2 NA19070.hp2
NA19087.hp2
NA19070.hp2
NA19087.hp2
 intron_variant MODIFIER c.2983+2645C>T
c.2983+2645C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75162862
chr6:75162867 T
T
 G
G
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2983+2640A>C
c.2983+2640A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75162867
chr6:75163017 T
T
 C
C
 2 a0001c0022t0001g0136
a0002c0023t0005g0123
a0001c0022t0001g0136
a0002c0023t0005g0123
 2 HG03516.hp2
HG06807.hp2
HG03516.hp2
HG06807.hp2
 intron_variant MODIFIER c.2983+2490A>G
c.2983+2490A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163017
chr6:75163059 T
T
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2983+2448A>G
c.2983+2448A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163059
chr6:75163064 G
G
 C
C
 17 a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
others(14): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0004c0004t0001g0173
a0004c0004t0001g0189
a0021c0033t0002g0186
 17 HG00621.hp1
HG02040.hp1
HG02486.hp1
others(14): Show 
HG00621.hp1
HG02040.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02630.hp2
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp2
NA18982.hp1
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2983+2443C>G
c.2983+2443C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163064
chr6:75163413 C
C
 T
T
 2 a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0007t0006g0039
a0006c0007t0006g0040
 2 HG03209.hp1
HG03516.hp1
HG03209.hp1
HG03516.hp1
 intron_variant MODIFIER c.2983+2094G>A
c.2983+2094G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163413
chr6:75163443 A
A
 G
G
 2 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0001g0031
a0003c0003t0003g0002
 3 HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02647.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.2983+2064T>C
c.2983+2064T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163443
chr6:75163516 G
G
 A
A
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2983+1991C>T
c.2983+1991C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163516
chr6:75163600 G
G
 A
A
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2983+1907C>T
c.2983+1907C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163600
chr6:75163634 G
G
 A
A
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2983+1873C>T
c.2983+1873C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163634
chr6:75163717 A
A
 G
G
 1 a0001c0001t0001g0104
a0001c0001t0001g0104
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.2983+1790T>C
c.2983+1790T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163717
chr6:75163823 A
A
 G
G
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.2983+1684T>C
c.2983+1684T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163823
chr6:75163974 T
T
 G
G
 7 a0002c0017t0002g0037
a0005c0016t0006g0028
a0011c0049t0003g0166
others(4): Show 
a0002c0017t0002g0037
a0005c0016t0006g0028
a0011c0049t0003g0166
a0012c0015t0009g0027
a0025c0047t0005g0192
a0028c0053t0007g0199
a0030c0050t0010g0195
 7 HG01891.hp1
HG02717.hp2
HG02976.hp1
others(4): Show 
HG01891.hp1
HG02717.hp2
HG02976.hp1
HG03195.hp1
HG03225.hp2
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.2983+1533A>C
c.2983+1533A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75163974
chr6:75164408 T
T
 C
C
 37 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(34): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0016t0006g0028
a0011c0049t0003g0166
a0012c0015t0009g0027
a0022c0028t0005g0032
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 38 HG00408.hp1
HG00673.hp2
HG01891.hp1
others(35): Show 
HG00408.hp1
HG00673.hp2
HG01891.hp1
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2983+1099A>G
c.2983+1099A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164408
chr6:75164573 A
A
 G
G
 3 a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0165
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0165
 3 HG03491.hp2
HG03492.hp1
HG04199.hp1
HG03491.hp2
HG03492.hp1
HG04199.hp1
 intron_variant MODIFIER c.2983+934T>C
c.2983+934T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164573
chr6:75164628 A
A
 G
G
 8 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(5): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 9 HG02109.hp1
HG02572.hp1
HG02615.hp1
others(6): Show 
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.2983+879T>C
c.2983+879T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164628
chr6:75164822 G
G
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2983+685C>A
c.2983+685C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164822
chr6:75164840 C
C
 CA
CA
 6 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
others(3): Show 
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0025c0047t0005g0192
a0028c0053t0007g0199
a0030c0050t0010g0195
 6 HG02717.hp2
HG02976.hp1
HG03195.hp1
others(3): Show 
HG02717.hp2
HG02976.hp1
HG03195.hp1
HG03225.hp2
HG06807.hp1
NA19030.hp1
 intron_variant MODIFIER c.2983+666dupT
c.2983+666dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164840
chr6:75164840 C
C
 CAA
CAA
 31 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(28): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0011c0049t0003g0166
a0022c0028t0005g0032
a0027c0018t0007g0145
 32 HG00408.hp1
HG00673.hp2
HG01891.hp1
others(29): Show 
HG00408.hp1
HG00673.hp2
HG01891.hp1
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2983+665_2983+666d
others(4): Show 
c.2983+665_2983+666dupTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164840
chr6:75164903 G
G
 T
T
 6 a0002c0017t0002g0037
a0005c0016t0006g0028
a0011c0049t0003g0166
others(3): Show 
a0002c0017t0002g0037
a0005c0016t0006g0028
a0011c0049t0003g0166
a0012c0015t0009g0027
a0028c0053t0007g0199
a0030c0050t0010g0195
 6 HG01891.hp1
HG02717.hp2
HG02976.hp1
others(3): Show 
HG01891.hp1
HG02717.hp2
HG02976.hp1
HG03195.hp1
HG03225.hp2
HG06807.hp1
 intron_variant MODIFIER c.2983+604C>A
c.2983+604C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164903
chr6:75164946 A
A
 C
C
 1 a0007c0009t0002g0003
a0007c0009t0002g0003
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.2983+561T>G
c.2983+561T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75164946
chr6:75165018 A
A
 G
G
 9 a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
others(6): Show 
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 10 HG02109.hp1
HG02572.hp1
HG02615.hp1
others(7): Show 
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
 intron_variant MODIFIER c.2983+489T>C
c.2983+489T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75165018
chr6:75165086 C
C
 G
G
 1 a0002c0002t0001g0102
a0002c0002t0001g0102
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.2983+421G>C
c.2983+421G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75165086
chr6:75165104 C
C
 T
T
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2983+403G>A
c.2983+403G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75165104
chr6:75165241 G
G
 A
A
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2983+266C>T
c.2983+266C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75165241
chr6:75165395 T
T
 C
C
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG02004.hp2
HG02004.hp2
 intron_variant MODIFIER c.2983+112A>G
c.2983+112A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 14/65 chr6 75165395
chr6:75165803 T
T
 A
A
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2711-24A>T
c.2711-24A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75165803
chr6:75166012 C
C
 T
T
 1 a0002c0002t0001g0024
a0002c0002t0001g0024
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.2711-233G>A
c.2711-233G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75166012
chr6:75166376 T
T
 C
C
 37 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(34): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0016t0006g0028
a0011c0049t0003g0166
a0012c0015t0009g0027
a0022c0028t0005g0032
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 38 HG00408.hp1
HG00673.hp2
HG01891.hp1
others(35): Show 
HG00408.hp1
HG00673.hp2
HG01891.hp1
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2711-597A>G
c.2711-597A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75166376
chr6:75166397 G
G
 A
A
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.2711-618C>T
c.2711-618C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75166397
chr6:75167032 A
A
 G
G
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2711-1253T>C
c.2711-1253T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167032
chr6:75167051 T
T
 C
C
 49 a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
others(46): Show 
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0116
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0004g0183
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0037t0001g0064
a0001c0043t0001g0078
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0119
a0002c0006t0002g0175
a0003c0003t0001g0057
a0003c0003t0001g0067
a0004c0004t0001g0083
a0014c0025t0001g0069
 49 HG00438.hp2
HG00621.hp2
HG00741.hp2
others(46): Show 
HG00438.hp2
HG00621.hp2
HG00741.hp2
HG01071.hp2
HG01243.hp1
HG01496.hp1
HG01928.hp1
HG01975.hp1
HG01978.hp2
HG02015.hp1
HG02040.hp2
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02523.hp1
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG03491.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18968.hp1
NA18979.hp1
NA18982.hp2
NA18984.hp2
NA18985.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2711-1272A>G
c.2711-1272A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167051
chr6:75167145 G
G
 T
T
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.2711-1366C>A
c.2711-1366C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167145
chr6:75167215 T
T
 C
C
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 2 NA18952.hp2
NA18966.hp2
NA18952.hp2
NA18966.hp2
 intron_variant MODIFIER c.2711-1436A>G
c.2711-1436A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167215
chr6:75167227 C
C
 T
T
 33 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(30): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0016t0006g0028
a0012c0015t0009g0027
a0022c0028t0005g0032
a0027c0018t0007g0145
 34 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(31): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2711-1448G>A
c.2711-1448G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167227
chr6:75167264 T
T
 C
C
 1 a0003c0003t0001g0057
a0003c0003t0001g0057
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.2711-1485A>G
c.2711-1485A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167264
chr6:75167328 A
A
 C
C
 34 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(31): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0016t0006g0028
a0012c0015t0009g0027
a0022c0028t0005g0032
a0027c0018t0007g0145
 35 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(32): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG06807.hp1
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2711-1549T>G
c.2711-1549T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167328
chr6:75167797 G
G
 T
T
 1 a0003c0003t0001g0057
a0003c0003t0001g0057
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.2711-2018C>A
c.2711-2018C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167797
chr6:75167957 A
A
 G
G
 2 a0028c0053t0007g0199
a0030c0050t0010g0195
a0028c0053t0007g0199
a0030c0050t0010g0195
 2 HG02717.hp2
HG03225.hp2
HG02717.hp2
HG03225.hp2
 intron_variant MODIFIER c.2711-2178T>C
c.2711-2178T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167957
chr6:75167965 T
T
 C
C
 10 a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
others(7): Show 
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
a0027c0018t0007g0145
 11 HG02109.hp1
HG02145.hp1
HG02572.hp1
others(8): Show 
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp2
 intron_variant MODIFIER c.2711-2186A>G
c.2711-2186A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75167965
chr6:75168108 A
A
 G
G
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2711-2329T>C
c.2711-2329T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168108
chr6:75168163 C
C
 T
T
 2 a0001c0001t0001g0095
a0002c0002t0001g0097
a0001c0001t0001g0095
a0002c0002t0001g0097
 2 HG00408.hp2
HG02083.hp2
HG00408.hp2
HG02083.hp2
 intron_variant MODIFIER c.2711-2384G>A
c.2711-2384G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168163
chr6:75168187 G
G
 C
C
 13 a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
others(10): Show 
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0011c0049t0003g0166
a0022c0028t0005g0032
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 14 HG01891.hp1
HG02109.hp1
HG02145.hp1
others(11): Show 
HG01891.hp1
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
 intron_variant MODIFIER c.2711-2408C>G
c.2711-2408C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168187
chr6:75168329 T
T
 G
G
 12 a0002c0002t0002g0163
a0003c0021t0013g0043
a0005c0008t0006g0158
others(9): Show 
a0002c0002t0002g0163
a0003c0021t0013g0043
a0005c0008t0006g0158
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 13 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(10): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02451.hp2
HG02572.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.2711-2550A>C
c.2711-2550A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168329
chr6:75168469 C
C
 T
T
 5 a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
others(2): Show 
a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
a0004c0004t0018g0132
a0013c0024t0003g0118
 5 HG00741.hp1
HG02145.hp2
HG03579.hp2
others(2): Show 
HG00741.hp1
HG02145.hp2
HG03579.hp2
HG03710.hp2
NA20805.hp1
 intron_variant MODIFIER c.2711-2690G>A
c.2711-2690G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168469
chr6:75168559 A
A
 T
T
 1 a0004c0004t0018g0132
a0004c0004t0018g0132
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2711-2780T>A
c.2711-2780T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168559
chr6:75168690 C
C
 A
A
 1 a0004c0004t0018g0132
a0004c0004t0018g0132
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.2711-2911G>T
c.2711-2911G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168690
chr6:75168709 C
C
 A
A
 6 a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
others(3): Show 
a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
a0004c0004t0018g0132
a0010c0014t0002g0196
a0013c0024t0003g0118
 6 HG00741.hp1
HG02145.hp2
HG03098.hp2
others(3): Show 
HG00741.hp1
HG02145.hp2
HG03098.hp2
HG03579.hp2
HG03710.hp2
NA20805.hp1
 intron_variant MODIFIER c.2711-2930G>T
c.2711-2930G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168709
chr6:75168887 C
C
 T
T
 1 a0002c0002t0001g0088
a0002c0002t0001g0088
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.2711-3108G>A
c.2711-3108G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75168887
chr6:75169000 G
G
 C
C
 12 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(9): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0011c0049t0003g0166
a0022c0028t0005g0032
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 13 HG01891.hp1
HG02109.hp1
HG02145.hp1
others(10): Show 
HG01891.hp1
HG02109.hp1
HG02145.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03225.hp2
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.2711-3221C>G
c.2711-3221C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75169000
chr6:75169051 T
T
 A
A
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2711-3272A>T
c.2711-3272A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75169051
chr6:75169157 G
G
 A
A
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.2711-3378C>T
c.2711-3378C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75169157
chr6:75169418 C
C
 T
T
 33 a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
others(30): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0005g0170
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 33 HG00621.hp1
HG01109.hp2
HG02015.hp1
others(30): Show 
HG00621.hp1
HG01109.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp2
NA18979.hp1
NA18982.hp1
NA19030.hp1
NA19030.hp2
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2711-3639G>A
c.2711-3639G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75169418
chr6:75169419 A
A
 G
G
 66 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(63): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0003c0032t0003g0029
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0012t0011g0005
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0022c0028t0005g0032
a0025c0047t0005g0192
a0029c0052t0008g0198
 67 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(64): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2711-3640T>C
c.2711-3640T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75169419
chr6:75169896 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.2711-4117C>T
c.2711-4117C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75169896
chr6:75170282 A
A
 C
C
 1 a0001c0001t0001g0004
a0001c0001t0001g0004
 2 NA18952.hp2
NA18966.hp2
NA18952.hp2
NA18966.hp2
 intron_variant MODIFIER c.2711-4503T>G
c.2711-4503T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170282
chr6:75170463 G
G
 A
A
 1 a0003c0021t0013g0043
a0003c0021t0013g0043
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.2710+4575C>T
c.2710+4575C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170463
chr6:75170477 T
T
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2710+4561A>G
c.2710+4561A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170477
chr6:75170478 T
T
 C
C
 8 a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0065
others(5): Show 
a0001c0001t0001g0051
a0001c0001t0001g0055
a0001c0001t0001g0065
a0001c0001t0019g0077
a0001c0043t0001g0078
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0002g0085
 8 HG00438.hp2
HG00621.hp2
HG02056.hp2
others(5): Show 
HG00438.hp2
HG00621.hp2
HG02056.hp2
HG02083.hp1
HG02523.hp1
NA18747.hp2
NA18946.hp1
NA18952.hp1
 intron_variant MODIFIER c.2710+4560A>G
c.2710+4560A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170478
chr6:75170587 G
G
 A
A
 57 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(54): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 57 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(54): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2710+4451C>T
c.2710+4451C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170587
chr6:75170596 A
A
 T
T
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.2710+4442T>A
c.2710+4442T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170596
chr6:75170907 C
C
 A
A
 57 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(54): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 57 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(54): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2710+4131G>T
c.2710+4131G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170907
chr6:75170960 C
C
 G
G
 1 a0001c0005t0005g0170
a0001c0005t0005g0170
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.2710+4078G>C
c.2710+4078G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170960
chr6:75170989 C
C
 T
T
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.2710+4049G>A
c.2710+4049G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75170989
chr6:75171133 G
G
 T
T
 1 a0013c0024t0003g0118
a0013c0024t0003g0118
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.2710+3905C>A
c.2710+3905C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75171133
chr6:75171740 C
C
 G
G
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.2710+3298G>C
c.2710+3298G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75171740
chr6:75171838 A
A
 G
G
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.2710+3200T>C
c.2710+3200T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75171838
chr6:75172008 T
T
 G
G
 2 a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0001g0191
a0002c0002t0002g0176
 2 HG00621.hp1
NA18982.hp1
HG00621.hp1
NA18982.hp1
 intron_variant MODIFIER c.2710+3030A>C
c.2710+3030A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75172008
chr6:75172078 A
A
 C
C
 4 a0011c0049t0003g0166
a0027c0018t0007g0145
a0028c0053t0007g0199
others(1): Show 
a0011c0049t0003g0166
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 4 HG01891.hp1
HG02145.hp1
HG02717.hp2
others(1): Show 
HG01891.hp1
HG02145.hp1
HG02717.hp2
HG03225.hp2
 intron_variant MODIFIER c.2710+2960T>G
c.2710+2960T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75172078
chr6:75172142 T
T
 C
C
 2 a0001c0001t0001g0025
a0002c0002t0001g0024
a0001c0001t0001g0025
a0002c0002t0001g0024
 2 HG01928.hp2
HG02004.hp2
HG01928.hp2
HG02004.hp2
 intron_variant MODIFIER c.2710+2896A>G
c.2710+2896A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75172142
chr6:75172347 G
G
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2710+2691C>G
c.2710+2691C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75172347
chr6:75172467 T
T
 C
C
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.2710+2571A>G
c.2710+2571A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75172467
chr6:75172988 C
C
 G
G
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.2710+2050G>C
c.2710+2050G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75172988
chr6:75172989 G
G
 A
A
 1 a0001c0039t0001g0140
a0001c0039t0001g0140
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.2710+2049C>T
c.2710+2049C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75172989
chr6:75173053 A
A
 G
G
 135 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(132): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 138 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(135): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2710+1985T>C
c.2710+1985T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75173053
chr6:75173249 C
C
 T
T
 2 a0002c0006t0014g0050
a0018c0036t0005g0149
a0002c0006t0014g0050
a0018c0036t0005g0149
 2 HG02615.hp2
HG02717.hp1
HG02615.hp2
HG02717.hp1
 intron_variant MODIFIER c.2710+1789G>A
c.2710+1789G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75173249
chr6:75173349 T
T
 C
C
 55 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(52): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0054t0003g0193
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 55 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(52): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2710+1689A>G
c.2710+1689A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75173349
chr6:75173384 T
T
 A
A
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.2710+1654A>T
c.2710+1654A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75173384
chr6:75174161 T
T
 C
C
 59 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(56): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0081
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0082
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 59 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(56): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2710+877A>G
c.2710+877A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174161
chr6:75174286 G
G
 A
A
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.2710+752C>T
c.2710+752C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174286
chr6:75174339 G
G
 A
A
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.2710+699C>T
c.2710+699C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174339
chr6:75174357 T
T
 C
C
 2 a0001c0001t0001g0056
a0001c0001t0001g0093
a0001c0001t0001g0056
a0001c0001t0001g0093
 2 NA19084.hp1
NA20752.hp2
NA19084.hp1
NA20752.hp2
 intron_variant MODIFIER c.2710+681A>G
c.2710+681A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174357
chr6:75174362 C
C
 T
T
 9 a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
others(6): Show 
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0003g0162
a0002c0002t0002g0163
a0005c0008t0006g0158
a0010c0014t0002g0196
a0028c0053t0007g0199
 9 HG02451.hp2
HG02818.hp2
HG03098.hp2
others(6): Show 
HG02451.hp2
HG02818.hp2
HG03098.hp2
HG03225.hp2
HG03491.hp2
HG03492.hp1
HG03942.hp1
HG04199.hp1
NA19240.hp2
 intron_variant MODIFIER c.2710+676G>A
c.2710+676G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174362
chr6:75174363 T
T
 C
C
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.2710+675A>G
c.2710+675A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174363
chr6:75174370 C
C
 A
A
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.2710+668G>T
c.2710+668G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174370
chr6:75174372 T
T
 G
G
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.2710+666A>C
c.2710+666A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174372
chr6:75174393 A
A
 G
G
 1 a0001c0035t0003g0101
a0001c0035t0003g0101
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.2710+645T>C
c.2710+645T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174393
chr6:75174420 G
G
 A
A
 32 a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
others(29): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0005g0170
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 32 HG00621.hp1
HG01109.hp2
HG02015.hp1
others(29): Show 
HG00621.hp1
HG01109.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp2
NA18747.hp1
NA18945.hp2
NA18979.hp1
NA18982.hp1
NA19030.hp1
NA19030.hp2
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2710+618C>T
c.2710+618C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174420
chr6:75174429 G
G
 A
A
 1 a0004c0004t0001g0083
a0004c0004t0001g0083
 1 HG01071.hp2
HG01071.hp2
 intron_variant MODIFIER c.2710+609C>T
c.2710+609C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174429
chr6:75174481 T
T
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2710+557A>G
c.2710+557A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174481
chr6:75174557 C
C
 CA
CA
 5 a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0023t0005g0123
others(2): Show 
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0023t0005g0123
a0016c0044t0015g0135
a0025c0047t0005g0192
 5 HG02818.hp1
HG02886.hp1
HG03516.hp2
others(2): Show 
HG02818.hp1
HG02886.hp1
HG03516.hp2
HG03540.hp1
NA19030.hp1
 intron_variant MODIFIER c.2710+480dupT
c.2710+480dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174557
chr6:75174559 A
A
 G
G
 3 a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0165
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0165
 3 HG03491.hp2
HG03492.hp1
HG04199.hp1
HG03491.hp2
HG03492.hp1
HG04199.hp1
 intron_variant MODIFIER c.2710+479T>C
c.2710+479T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174559
chr6:75174628 T
T
 A
A
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2710+410A>T
c.2710+410A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174628
chr6:75174660 G
G
 C
C
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.2710+378C>G
c.2710+378C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174660
chr6:75174700 C
C
 G
G
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2710+338G>C
c.2710+338G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174700
chr6:75174711 G
G
 A
A
 54 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(51): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 54 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(51): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03540.hp1
HG03704.hp1
HG04115.hp2
HG04204.hp2
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2710+327C>T
c.2710+327C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174711
chr6:75174787 C
C
 A
A
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.2710+251G>T
c.2710+251G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 13/65 chr6 75174787
chr6:75175402 C
C
 T
T
 4 a0001c0045t0003g0134
a0001c0046t0007g0133
a0012c0015t0009g0027
others(1): Show 
a0001c0045t0003g0134
a0001c0046t0007g0133
a0012c0015t0009g0027
a0016c0044t0015g0135
 4 HG02818.hp1
HG02886.hp1
HG03540.hp1
others(1): Show 
HG02818.hp1
HG02886.hp1
HG03540.hp1
HG06807.hp1
 intron_variant MODIFIER c.2438-92G>A
c.2438-92G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75175402
chr6:75175587 A
A
 G
G
 2 a0001c0001t0022g0063
a0001c0037t0001g0064
a0001c0001t0022g0063
a0001c0037t0001g0064
 2 HG01928.hp1
NA20300.hp1
HG01928.hp1
NA20300.hp1
 intron_variant MODIFIER c.2438-277T>C
c.2438-277T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75175587
chr6:75175589 A
A
 G
G
 124 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(121): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 127 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(124): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2438-279T>C
c.2438-279T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75175589
chr6:75175639 A
A
 G
G
 63 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(60): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0054t0003g0193
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 63 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(60): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2438-329T>C
c.2438-329T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75175639
chr6:75175739 A
A
 ACACT
ACACT
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2438-430_2438-429i
others(6): Show 
c.2438-430_2438-429insAGTG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75175739
chr6:75176158 G
G
 A
A
 45 a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
others(42): Show 
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0116
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0115
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0037t0001g0064
a0001c0043t0001g0078
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0119
a0003c0003t0001g0057
a0003c0003t0001g0067
a0004c0004t0001g0083
a0014c0025t0001g0069
 45 HG00438.hp2
HG00621.hp2
HG00741.hp2
others(42): Show 
HG00438.hp2
HG00621.hp2
HG00741.hp2
HG01071.hp2
HG01243.hp1
HG01496.hp1
HG01928.hp1
HG01975.hp1
HG01978.hp2
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp1
HG02293.hp1
HG02523.hp1
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG03491.hp1
HG03704.hp2
HG03942.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18968.hp1
NA18982.hp2
NA18984.hp2
NA18985.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2438-848C>T
c.2438-848C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176158
chr6:75176166 G
G
 A
A
 1 a0001c0001t0001g0084
a0001c0001t0001g0084
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.2438-856C>T
c.2438-856C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176166
chr6:75176318 A
A
 G
G
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2438-1008T>C
c.2438-1008T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176318
chr6:75176361 T
T
 C
C
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2438-1051A>G
c.2438-1051A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176361
chr6:75176570 A
A
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2437+1093T>G
c.2437+1093T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176570
chr6:75176606 A
A
 G
G
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.2437+1057T>C
c.2437+1057T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176606
chr6:75176626 C
C
 T
T
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2437+1037G>A
c.2437+1037G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176626
chr6:75176907 C
C
 T
T
 3 a0001c0001t0001g0141
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0001t0001g0141
a0001c0005t0002g0142
a0001c0005t0002g0143
 3 NA18944.hp2
NA18948.hp1
NA19063.hp1
NA18944.hp2
NA18948.hp1
NA19063.hp1
 intron_variant MODIFIER c.2437+756G>A
c.2437+756G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176907
chr6:75176920 A
A
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.2437+743T>G
c.2437+743T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75176920
chr6:75177074 A
A
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2437+589T>C
c.2437+589T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75177074
chr6:75177134 A
A
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2437+529T>C
c.2437+529T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75177134
chr6:75177308 G
G
 A
A
 4 a0011c0049t0003g0166
a0027c0018t0007g0145
a0028c0053t0007g0199
others(1): Show 
a0011c0049t0003g0166
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 4 HG01891.hp1
HG02145.hp1
HG02717.hp2
others(1): Show 
HG01891.hp1
HG02145.hp1
HG02717.hp2
HG03225.hp2
 intron_variant MODIFIER c.2437+355C>T
c.2437+355C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75177308
chr6:75177555 C
C
 T
T
 64 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(61): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 64 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(61): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2437+108G>A
c.2437+108G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75177555
chr6:75177650 A
A
 G
G
 1 a0002c0006t0002g0119
a0002c0006t0002g0119
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.2437+13T>C
c.2437+13T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 12/65 chr6 75177650
chr6:75177959 A
A
 T
T
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.2165-24T>A
c.2165-24T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75177959
chr6:75177967 C
C
 A
A
 64 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(61): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 64 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(61): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2165-32G>T
c.2165-32G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75177967
chr6:75178030 A
A
 G
G
 8 a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
others(5): Show 
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0024c0020t0007g0047
 9 HG01069.hp1
HG01071.hp1
HG01109.hp1
others(6): Show 
HG01069.hp1
HG01071.hp1
HG01109.hp1
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
 intron_variant MODIFIER c.2165-95T>C
c.2165-95T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75178030
chr6:75178086 C
C
 A
A
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.2165-151G>T
c.2165-151G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75178086
chr6:75178651 A
A
 T
T
 2 a0003c0003t0003g0030
a0003c0032t0003g0029
a0003c0003t0003g0030
a0003c0032t0003g0029
 2 HG02109.hp1
HG02615.hp1
HG02109.hp1
HG02615.hp1
 intron_variant MODIFIER c.2165-716T>A
c.2165-716T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75178651
chr6:75178657 C
C
 T
T
 1 a0005c0008t0006g0036
a0005c0008t0006g0036
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.2165-722G>A
c.2165-722G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75178657
chr6:75178833 C
C
 A
A
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.2165-898G>T
c.2165-898G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75178833
chr6:75178995 C
C
 T
T
 2 a0003c0003t0002g0100
a0004c0004t0017g0099
a0003c0003t0002g0100
a0004c0004t0017g0099
 2 HG00438.hp1
HG02129.hp2
HG00438.hp1
HG02129.hp2
 intron_variant MODIFIER c.2165-1060G>A
c.2165-1060G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75178995
chr6:75179185 C
C
 A
A
 64 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(61): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 64 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(61): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2165-1250G>T
c.2165-1250G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179185
chr6:75179492 A
A
 G
G
 65 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(62): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0002c0054t0003g0193
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 65 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(62): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2164+1447T>C
c.2164+1447T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179492
chr6:75179511 G
G
 C
C
 4 a0001c0045t0003g0134
a0001c0046t0007g0133
a0012c0015t0009g0027
others(1): Show 
a0001c0045t0003g0134
a0001c0046t0007g0133
a0012c0015t0009g0027
a0016c0044t0015g0135
 4 HG02818.hp1
HG02886.hp1
HG03540.hp1
others(1): Show 
HG02818.hp1
HG02886.hp1
HG03540.hp1
HG06807.hp1
 intron_variant MODIFIER c.2164+1428C>G
c.2164+1428C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179511
chr6:75179531 C
C
 A
A
 1 a0017c0034t0006g0200
a0017c0034t0006g0200
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.2164+1408G>T
c.2164+1408G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179531
chr6:75179542 C
C
 CA
CA
 61 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(58): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0054t0003g0193
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0027c0018t0007g0145
a0029c0052t0008g0198
 61 HG00408.hp1
HG00621.hp1
HG01109.hp2
others(58): Show 
HG00408.hp1
HG00621.hp1
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02145.hp1
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.2164+1396dupT
c.2164+1396dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179542
chr6:75179624 T
T
 C
C
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.2164+1315A>G
c.2164+1315A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179624
chr6:75179772 T
T
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+1167A>G
c.2164+1167A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179772
chr6:75179803 C
C
 A
A
 3 a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
 3 HG01109.hp2
HG02559.hp1
HG03098.hp1
HG01109.hp2
HG02559.hp1
HG03098.hp1
 intron_variant MODIFIER c.2164+1136G>T
c.2164+1136G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179803
chr6:75179851 G
G
 T
T
 2 a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0001g0191
a0002c0002t0002g0176
 2 HG00621.hp1
NA18982.hp1
HG00621.hp1
NA18982.hp1
 intron_variant MODIFIER c.2164+1088C>A
c.2164+1088C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179851
chr6:75179854 T
T
 C
C
 1 a0002c0002t0002g0085
a0002c0002t0002g0085
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.2164+1085A>G
c.2164+1085A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179854
chr6:75179982 T
T
 C
C
 1 a0002c0002t0008g0169
a0002c0002t0008g0169
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.2164+957A>G
c.2164+957A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75179982
chr6:75180040 A
A
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+899T>C
c.2164+899T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180040
chr6:75180088 G
G
 T
T
 1 a0001c0022t0001g0136
a0001c0022t0001g0136
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.2164+851C>A
c.2164+851C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180088
chr6:75180562 C
C
 CAATATAT
others(27): Show 
CAATATATATACATATATATATATATATATATATA
 1 a0002c0017t0002g0037
a0002c0017t0002g0037
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.2164+376_2164+377i
others(36): Show 
c.2164+376_2164+377insTATATATATATATATATATATATGTATA
TATATT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180562
chr6:75180562 C
C
 CAATATAT
others(35): Show 
CAATATATATACATATATATATATATATATATATATATATATA
 1 a0005c0016t0006g0028
a0005c0016t0006g0028
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+376_2164+377i
others(44): Show 
c.2164+376_2164+377insTATATATATATATATATATATATATATA
TATGTATATATATT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180562
chr6:75180571 C
C
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+368G>A
c.2164+368G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180571
chr6:75180660 A
A
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+279T>C
c.2164+279T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180660
chr6:75180720 C
C
 T
T
 64 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(61): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0001g0038
a0001c0005t0005g0170
a0001c0038t0004g0023
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0017t0002g0037
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0005c0016t0006g0028
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 64 HG00408.hp1
HG00621.hp1
HG00673.hp2
others(61): Show 
HG00408.hp1
HG00621.hp1
HG00673.hp2
HG01109.hp2
HG01928.hp2
HG02004.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03098.hp1
HG03195.hp1
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18979.hp1
NA18982.hp1
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19087.hp2
NA19091.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.2164+219G>A
c.2164+219G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180720
chr6:75180727 C
C
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+212G>A
c.2164+212G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180727
chr6:75180901 TC
TC
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+37delG
c.2164+37delG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180901
chr6:75180903 A
A
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+36T>A
c.2164+36T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180903
chr6:75180904 T
T
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.2164+35A>C
c.2164+35A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 11/65 chr6 75180904
chr6:75181216 TTAA
TTAA
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 splice_region_variant&intron_variant LOW c.1892-8_1892-6delTT
others(1): Show 
c.1892-8_1892-6delTTA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181216
chr6:75181217 T
T
 TA
TA
 139 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(136): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 142 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(139): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.1892-7dupT
c.1892-7dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181217
chr6:75181217 T
T
 TAA
TAA
 6 a0001c0001t0001g0059
a0001c0001t0001g0144
a0001c0001t0004g0013
others(3): Show 
a0001c0001t0001g0059
a0001c0001t0001g0144
a0001c0001t0004g0013
a0001c0001t0004g0014
a0002c0002t0001g0012
a0004c0004t0003g0157
 6 HG02486.hp2
HG02698.hp2
HG03491.hp1
others(3): Show 
HG02486.hp2
HG02698.hp2
HG03491.hp1
NA18945.hp1
NA18962.hp1
NA18962.hp2
 splice_region_variant&intron_variant LOW c.1892-8_1892-7dupTT
c.1892-8_1892-7dupTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181217
chr6:75181217 TA
TA
 T
T
 41 a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
others(38): Show 
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0003g0162
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0005t0005g0170
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0004g0049
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0005c0008t0006g0158
a0006c0026t0006g0168
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0016c0044t0015g0135
a0021c0033t0002g0186
a0025c0047t0005g0192
a0029c0052t0008g0198
 41 HG00621.hp1
HG01109.hp2
HG02015.hp1
others(38): Show 
HG00621.hp1
HG01109.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG03098.hp1
HG03225.hp1
HG03491.hp2
HG03492.hp1
HG03540.hp1
HG03704.hp1
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG06807.hp1
NA18747.hp1
NA18945.hp2
NA18979.hp1
NA18982.hp1
NA19030.hp1
NA19030.hp2
NA19070.hp2
NA19087.hp2
NA19240.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 splice_region_variant&intron_variant LOW c.1892-7delT
c.1892-7delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181217
chr6:75181343 G
G
 A
A
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-132C>T
c.1892-132C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181343
chr6:75181393 A
A
 G
G
 1 a0002c0006t0002g0175
a0002c0006t0002g0175
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.1892-182T>C
c.1892-182T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181393
chr6:75181436 A
A
 G
G
 1 a0001c0001t0001g0174
a0001c0001t0001g0174
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.1892-225T>C
c.1892-225T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181436
chr6:75181501 C
C
 A
A
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-290G>T
c.1892-290G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181501
chr6:75181514 C
C
 T
T
 5 a0001c0045t0003g0134
a0001c0046t0007g0133
a0011c0049t0003g0166
others(2): Show 
a0001c0045t0003g0134
a0001c0046t0007g0133
a0011c0049t0003g0166
a0012c0015t0009g0027
a0016c0044t0015g0135
 5 HG01891.hp1
HG02818.hp1
HG02886.hp1
others(2): Show 
HG01891.hp1
HG02818.hp1
HG02886.hp1
HG03540.hp1
HG06807.hp1
 intron_variant MODIFIER c.1892-303G>A
c.1892-303G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181514
chr6:75181670 G
G
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-459C>A
c.1892-459C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181670
chr6:75181719 T
T
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-508A>G
c.1892-508A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181719
chr6:75181767 C
C
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-556G>A
c.1892-556G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181767
chr6:75181850 G
G
 A
A
 1 a0013c0024t0003g0118
a0013c0024t0003g0118
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1892-639C>T
c.1892-639C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181850
chr6:75181918 C
C
 T
T
 2 a0001c0022t0001g0136
a0002c0023t0005g0123
a0001c0022t0001g0136
a0002c0023t0005g0123
 2 HG03516.hp2
HG06807.hp2
HG03516.hp2
HG06807.hp2
 intron_variant MODIFIER c.1892-707G>A
c.1892-707G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181918
chr6:75181927 C
C
 CA
CA
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.1892-717dupT
c.1892-717dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181927
chr6:75181927 C
C
 CAAAAAAA
others(8): Show 
CAAAAAAAAAAAAAAA
 1 a0002c0017t0002g0037
a0002c0017t0002g0037
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1892-717_1892-716i
others(17): Show 
c.1892-717_1892-716insTTTTTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181927
chr6:75181927 C
C
 CAAAAAAA
others(9): Show 
CAAAAAAAAAAAAAAAA
 1 a0005c0016t0006g0028
a0005c0016t0006g0028
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-717_1892-716i
others(18): Show 
c.1892-717_1892-716insTTTTTTTTTTTTTTTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181927
chr6:75181927 CA
CA
 C
C
 8 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(5): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 9 HG02109.hp1
HG02572.hp1
HG02615.hp1
others(6): Show 
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.1892-717delT
c.1892-717delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181927
chr6:75181956 C
C
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-745G>A
c.1892-745G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75181956
chr6:75182021 G
G
 A
A
 1 a0001c0039t0001g0140
a0001c0039t0001g0140
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.1892-810C>T
c.1892-810C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182021
chr6:75182038 G
G
 A
A
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-827C>T
c.1892-827C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182038
chr6:75182082 T
T
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-871A>G
c.1892-871A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182082
chr6:75182089 C
C
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1892-878G>A
c.1892-878G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182089
chr6:75182095 CA
CA
 C
C
 139 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(136): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 143 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(140): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1892-885delT
c.1892-885delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182095
chr6:75182112 G
G
 GA
GA
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.1892-902dupT
c.1892-902dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182112
chr6:75182163 T
T
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1891+887A>G
c.1891+887A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182163
chr6:75182256 AACG
AACG
 A
A
 136 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(133): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 140 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(137): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1891+791_1891+793d
others(5): Show 
c.1891+791_1891+793delCGT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182256
chr6:75182264 G
G
 A
A
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1891+786C>T
c.1891+786C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182264
chr6:75182265 T
T
 G
G
 165 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(162): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 169 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(166): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1891+785A>C
c.1891+785A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182265
chr6:75182291 A
A
 G
G
 137 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(134): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 141 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(138): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1891+759T>C
c.1891+759T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182291
chr6:75182356 C
C
 T
T
 1 a0004c0012t0011g0005
a0004c0012t0011g0005
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.1891+694G>A
c.1891+694G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182356
chr6:75182530 A
A
 C
C
 1 a0005c0008t0006g0158
a0005c0008t0006g0158
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.1891+520T>G
c.1891+520T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182530
chr6:75182536 C
C
 T
T
 4 a0001c0041t0007g0146
a0005c0013t0006g0147
a0005c0013t0006g0148
others(1): Show 
a0001c0041t0007g0146
a0005c0013t0006g0147
a0005c0013t0006g0148
a0023c0029t0001g0026
 4 HG02630.hp1
HG02735.hp2
HG02895.hp2
others(1): Show 
HG02630.hp1
HG02735.hp2
HG02895.hp2
NA20300.hp2
 intron_variant MODIFIER c.1891+514G>A
c.1891+514G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182536
chr6:75182590 G
G
 A
A
 2 a0003c0003t0001g0187
a0021c0033t0002g0186
a0003c0003t0001g0187
a0021c0033t0002g0186
 2 HG03704.hp1
HG04115.hp2
HG03704.hp1
HG04115.hp2
 intron_variant MODIFIER c.1891+460C>T
c.1891+460C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182590
chr6:75182670 A
A
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1891+380T>C
c.1891+380T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182670
chr6:75182800 C
C
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1891+250G>C
c.1891+250G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182800
chr6:75182817 C
C
 T
T
 2 a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0035
a0003c0003t0003g0156
 2 HG01891.hp2
NA18906.hp2
HG01891.hp2
NA18906.hp2
 intron_variant MODIFIER c.1891+233G>A
c.1891+233G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182817
chr6:75182960 G
G
 A
A
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1891+90C>T
c.1891+90C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182960
chr6:75182986 C
C
 A
A
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.1891+64G>T
c.1891+64G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 10/65 chr6 75182986
chr6:75183709 C
C
 T
T
 4 a0001c0001t0010g0171
a0010c0014t0005g0197
a0011c0051t0007g0194
others(1): Show 
a0001c0001t0010g0171
a0010c0014t0005g0197
a0011c0051t0007g0194
a0029c0052t0008g0198
 4 HG02109.hp2
HG02647.hp1
HG02723.hp2
others(1): Show 
HG02109.hp2
HG02647.hp1
HG02723.hp2
NA19030.hp2
 intron_variant MODIFIER c.1289-57G>A
c.1289-57G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 9/65 chr6 75183709
chr6:75183740 T
T
 TAA
TAA
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1289-89_1289-88ins
others(2): Show 
c.1289-89_1289-88insTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 9/65 chr6 75183740
chr6:75183741 T
T
 A
A
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1289-89A>T
c.1289-89A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 9/65 chr6 75183741
chr6:75183741 TA
TA
 T
T
 164 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(161): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 168 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(165): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1289-90delT
c.1289-90delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 9/65 chr6 75183741
chr6:75183774 A
A
 G
G
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1288+80T>C
c.1288+80T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 9/65 chr6 75183774
chr6:75183821 A
A
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.1288+33T>G
c.1288+33T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 9/65 chr6 75183821
chr6:75184278 G
G
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.998-134C>A
c.998-134C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75184278
chr6:75184365 A
A
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.998-221T>C
c.998-221T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75184365
chr6:75184477 C
C
 A
A
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.998-333G>T
c.998-333G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75184477
chr6:75184557 A
A
 G
G
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.998-413T>C
c.998-413T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75184557
chr6:75184767 G
G
 A
A
 139 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(136): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 143 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(140): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998-623C>T
c.998-623C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75184767
chr6:75184895 G
G
 A
A
 1 a0002c0002t0001g0086
a0002c0002t0001g0086
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.998-751C>T
c.998-751C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75184895
chr6:75185125 C
C
 A
A
 1 a0003c0003t0001g0188
a0003c0003t0001g0188
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.998-981G>T
c.998-981G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185125
chr6:75185205 A
A
 G
G
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.998-1061T>C
c.998-1061T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185205
chr6:75185342 T
T
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.998-1198A>G
c.998-1198A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185342
chr6:75185407 A
A
 G
G
 3 a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0019t0005g0048
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0019t0005g0048
 3 HG02976.hp2
HG03195.hp2
NA18906.hp1
HG02976.hp2
HG03195.hp2
NA18906.hp1
 intron_variant MODIFIER c.998-1263T>C
c.998-1263T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185407
chr6:75185411 C
C
 A
A
 1 a0003c0003t0007g0120
a0003c0003t0007g0120
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.998-1267G>T
c.998-1267G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185411
chr6:75185490 C
C
 A
A
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.998-1346G>T
c.998-1346G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185490
chr6:75185614 C
C
 A
A
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.998-1470G>T
c.998-1470G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185614
chr6:75185694 G
G
 C
C
 1 a0003c0003t0003g0002
a0003c0003t0003g0002
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.998-1550C>G
c.998-1550C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185694
chr6:75185749 G
G
 T
T
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.998-1605C>A
c.998-1605C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75185749
chr6:75186196 G
G
 A
A
 137 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(134): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 141 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(138): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.998-2052C>T
c.998-2052C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186196
chr6:75186308 G
G
 A
A
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 NA19066.hp1
NA19066.hp1
 intron_variant MODIFIER c.997+2054C>T
c.997+2054C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186308
chr6:75186361 A
A
 C
C
 201 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(198): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0160
a0001c0001t0001g0161
a0001c0001t0001g0165
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0003g0162
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0163
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0002g0175
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0008t0006g0158
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 205 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(202): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.997+2001T>G
c.997+2001T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186361
chr6:75186375 C
C
 T
T
 1 a0017c0034t0006g0200
a0017c0034t0006g0200
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.997+1987G>A
c.997+1987G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186375
chr6:75186434 G
G
 A
A
 1 a0002c0002t0001g0088
a0002c0002t0001g0088
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.997+1928C>T
c.997+1928C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186434
chr6:75186478 G
G
 C
C
 1 a0001c0001t0001g0121
a0001c0001t0001g0121
 1 NA19090.hp2
NA19090.hp2
 intron_variant MODIFIER c.997+1884C>G
c.997+1884C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186478
chr6:75186668 G
G
 A
A
 138 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(135): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 142 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(139): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.997+1694C>T
c.997+1694C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186668
chr6:75186851 G
G
 A
A
 1 a0002c0017t0002g0037
a0002c0017t0002g0037
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.997+1511C>T
c.997+1511C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75186851
chr6:75187109 C
C
 T
T
 8 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(5): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 9 HG02109.hp1
HG02572.hp1
HG02615.hp1
others(6): Show 
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.997+1253G>A
c.997+1253G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187109
chr6:75187157 A
A
 AAT
AAT
 10 a0002c0002t0008g0169
a0003c0003t0001g0031
a0003c0003t0003g0002
others(7): Show 
a0002c0002t0008g0169
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0158
a0022c0028t0005g0032
 11 HG01109.hp2
HG02109.hp1
HG02572.hp1
others(8): Show 
HG01109.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02818.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.997+1203_997+1204d
others(4): Show 
c.997+1203_997+1204dupAT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187157
chr6:75187157 AAT
AAT
 A
A
 140 a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0025
others(137): Show 
a0001c0001t0001g0004
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 143 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(140): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03486.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.997+1203_997+1204d
others(4): Show 
c.997+1203_997+1204delAT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187157
chr6:75187163 T
T
 A
A
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.997+1199A>T
c.997+1199A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187163
chr6:75187356 T
T
 C
C
 170 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(167): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 174 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(171): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.997+1006A>G
c.997+1006A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187356
chr6:75187379 A
A
 G
G
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.997+983T>C
c.997+983T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187379
chr6:75187435 C
C
 A
A
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.997+927G>T
c.997+927G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187435
chr6:75187472 G
G
 A
A
 140 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(137): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 144 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(141): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.997+890C>T
c.997+890C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187472
chr6:75187497 G
G
 A
A
 1 a0004c0004t0018g0132
a0004c0004t0018g0132
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.997+865C>T
c.997+865C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187497
chr6:75187600 T
T
 C
C
 1 a0027c0018t0007g0145
a0027c0018t0007g0145
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.997+762A>G
c.997+762A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187600
chr6:75187648 T
T
 C
C
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.997+714A>G
c.997+714A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187648
chr6:75187679 G
G
 A
A
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.997+683C>T
c.997+683C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187679
chr6:75187700 T
T
 G
G
 1 a0002c0002t0001g0122
a0002c0002t0001g0122
 1 NA19063.hp2
NA19063.hp2
 intron_variant MODIFIER c.997+662A>C
c.997+662A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187700
chr6:75187701 T
T
 C
C
 1 a0004c0004t0001g0189
a0004c0004t0001g0189
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.997+661A>G
c.997+661A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187701
chr6:75187960 G
G
 A
A
 141 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(138): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0011c0049t0003g0166
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0030c0050t0010g0195
 145 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(142): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.997+402C>T
c.997+402C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75187960
chr6:75188239 A
A
 C
C
 2 a0001c0005t0002g0098
a0002c0002t0001g0097
a0001c0005t0002g0098
a0002c0002t0001g0097
 2 HG02083.hp2
NA18944.hp1
HG02083.hp2
NA18944.hp1
 intron_variant MODIFIER c.997+123T>G
c.997+123T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 8/65 chr6 75188239
chr6:75189103 G
G
 T
T
 1 a0003c0003t0001g0096
a0003c0003t0001g0096
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.823+114C>A
c.823+114C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 7/65 chr6 75189103
chr6:75190032 G
G
 C
C
 1 a0002c0023t0005g0123
a0002c0023t0005g0123
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.395-217C>G
c.395-217C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190032
chr6:75190098 C
C
 T
T
 1 a0003c0003t0001g0057
a0003c0003t0001g0057
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.395-283G>A
c.395-283G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190098
chr6:75190176 A
A
 G
G
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.395-361T>C
c.395-361T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190176
chr6:75190295 G
G
 A
A
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG02698.hp2
HG02698.hp2
 intron_variant MODIFIER c.395-480C>T
c.395-480C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190295
chr6:75190321 T
T
 C
C
 1 a0001c0005t0005g0170
a0001c0005t0005g0170
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.395-506A>G
c.395-506A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190321
chr6:75190418 T
T
 A
A
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.395-603A>T
c.395-603A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190418
chr6:75190523 C
C
 G
G
 1 a0010c0014t0005g0197
a0010c0014t0005g0197
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.395-708G>C
c.395-708G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190523
chr6:75190564 T
T
 C
C
 120 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(117): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 123 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(120): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.395-749A>G
c.395-749A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190564
chr6:75190916 T
T
 G
G
 2 a0002c0054t0003g0193
a0020c0030t0020g0202
a0002c0054t0003g0193
a0020c0030t0020g0202
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.394+785A>C
c.394+785A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75190916
chr6:75191009 C
C
 T
T
 123 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(120): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 126 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(123): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.394+692G>A
c.394+692G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191009
chr6:75191041 C
C
 G
G
 147 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.394+660G>C
c.394+660G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191041
chr6:75191048 A
A
 T
T
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.394+653T>A
c.394+653T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191048
chr6:75191058 A
A
 T
T
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.394+643T>A
c.394+643T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191058
chr6:75191105 G
G
 A
A
 1 a0001c0001t0004g0124
a0001c0001t0004g0124
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.394+596C>T
c.394+596C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191105
chr6:75191179 T
T
 C
C
 1 a0004c0004t0001g0189
a0004c0004t0001g0189
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.394+522A>G
c.394+522A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191179
chr6:75191205 T
T
 C
C
 1 a0003c0003t0001g0190
a0003c0003t0001g0190
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.394+496A>G
c.394+496A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191205
chr6:75191230 A
A
 C
C
 2 a0002c0054t0003g0193
a0020c0030t0020g0202
a0002c0054t0003g0193
a0020c0030t0020g0202
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.394+471T>G
c.394+471T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191230
chr6:75191246 A
A
 G
G
 3 a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
 3 HG01109.hp2
HG02559.hp1
HG03098.hp1
HG01109.hp2
HG02559.hp1
HG03098.hp1
 intron_variant MODIFIER c.394+455T>C
c.394+455T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191246
chr6:75191270 G
G
 A
A
 1 a0002c0002t0001g0089
a0002c0002t0001g0089
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.394+431C>T
c.394+431C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191270
chr6:75191283 C
C
 G
G
 144 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(141): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 147 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(144): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.394+418G>C
c.394+418G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191283
chr6:75191284 T
T
 A
A
 1 a0003c0027t0009g0125
a0003c0027t0009g0125
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.394+417A>T
c.394+417A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191284
chr6:75191440 G
G
 A
A
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.394+261C>T
c.394+261C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191440
chr6:75191576 C
C
 T
T
 147 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.394+125G>A
c.394+125G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 5/65 chr6 75191576
chr6:75191917 C
C
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.335-157G>C
c.335-157G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 4/65 chr6 75191917
chr6:75192666 T
T
 C
C
 147 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.191-311A>G
c.191-311A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75192666
chr6:75192673 T
T
 C
C
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.191-318A>G
c.191-318A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75192673
chr6:75192761 A
A
 G
G
 26 a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
others(23): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0004g0183
a0001c0001t0021g0201
a0001c0005t0005g0170
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0006c0026t0006g0168
a0017c0034t0006g0200
a0021c0033t0002g0186
 26 HG00621.hp1
HG01109.hp2
HG02015.hp1
others(23): Show 
HG00621.hp1
HG01109.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG03098.hp1
HG03225.hp1
HG03486.hp1
HG03704.hp1
HG04115.hp2
NA18747.hp1
NA18945.hp2
NA18979.hp1
NA18982.hp1
NA19070.hp2
NA19087.hp2
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.191-406T>C
c.191-406T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75192761
chr6:75192862 C
C
 G
G
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.191-507G>C
c.191-507G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75192862
chr6:75192878 G
G
 A
A
 1 a0024c0020t0007g0047
a0024c0020t0007g0047
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.191-523C>T
c.191-523C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75192878
chr6:75192908 G
G
 T
T
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.191-553C>A
c.191-553C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75192908
chr6:75192922 C
C
 T
T
 1 a0004c0004t0001g0173
a0004c0004t0001g0173
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.191-567G>A
c.191-567G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75192922
chr6:75193088 T
T
 C
C
 123 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(120): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 126 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(123): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.191-733A>G
c.191-733A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193088
chr6:75193099 A
A
 G
G
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG00408.hp2
HG00408.hp2
 intron_variant MODIFIER c.191-744T>C
c.191-744T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193099
chr6:75193234 G
G
 A
A
 9 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(6): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 10 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(7): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.191-879C>T
c.191-879C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193234
chr6:75193420 T
T
 C
C
 1 a0006c0007t0005g0044
a0006c0007t0005g0044
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.191-1065A>G
c.191-1065A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193420
chr6:75193576 T
T
 A
A
 123 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(120): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 126 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(123): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.191-1221A>T
c.191-1221A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193576
chr6:75193621 T
T
 A
A
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.190+1210A>T
c.190+1210A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193621
chr6:75193628 C
C
 T
T
 1 a0015c0042t0002g0094
a0015c0042t0002g0094
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.190+1203G>A
c.190+1203G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193628
chr6:75193653 C
C
 T
T
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.190+1178G>A
c.190+1178G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193653
chr6:75193657 T
T
 C
C
 1 a0003c0003t0001g0126
a0003c0003t0001g0126
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.190+1174A>G
c.190+1174A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193657
chr6:75193668 T
T
 G
G
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.190+1163A>C
c.190+1163A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193668
chr6:75193685 C
C
 T
T
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.190+1146G>A
c.190+1146G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193685
chr6:75193944 T
T
 C
C
 3 a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
a0002c0017t0002g0037
a0005c0016t0006g0028
a0012c0015t0009g0027
 3 HG02976.hp1
HG03195.hp1
HG06807.hp1
HG02976.hp1
HG03195.hp1
HG06807.hp1
 intron_variant MODIFIER c.190+887A>G
c.190+887A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193944
chr6:75193994 G
G
 A
A
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.190+837C>T
c.190+837C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75193994
chr6:75194205 T
T
 A
A
 1 a0002c0002t0001g0191
a0002c0002t0001g0191
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.190+626A>T
c.190+626A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194205
chr6:75194388 G
G
 T
T
 1 a0006c0026t0006g0168
a0006c0026t0006g0168
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.190+443C>A
c.190+443C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194388
chr6:75194408 G
G
 C
C
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.190+423C>G
c.190+423C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194408
chr6:75194519 G
G
 A
A
 2 a0005c0008t0006g0128
a0009c0010t0005g0127
a0005c0008t0006g0128
a0009c0010t0005g0127
 2 HG01069.hp1
HG02886.hp2
HG01069.hp1
HG02886.hp2
 intron_variant MODIFIER c.190+312C>T
c.190+312C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194519
chr6:75194520 C
C
 A
A
 2 a0005c0008t0006g0128
a0009c0010t0005g0127
a0005c0008t0006g0128
a0009c0010t0005g0127
 2 HG01069.hp1
HG02886.hp2
HG01069.hp1
HG02886.hp2
 intron_variant MODIFIER c.190+311G>T
c.190+311G>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194520
chr6:75194541 CTATAAGA
others(8): Show 
CTATAAGATCAAAGGT
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.190+275_190+289del
others(15): Show 
c.190+275_190+289delACCTTTGATCTTATA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194541
chr6:75194662 CA
CA
 C
C
 3 a0001c0045t0003g0134
a0001c0046t0007g0133
a0016c0044t0015g0135
a0001c0045t0003g0134
a0001c0046t0007g0133
a0016c0044t0015g0135
 3 HG02818.hp1
HG02886.hp1
HG03540.hp1
HG02818.hp1
HG02886.hp1
HG03540.hp1
 intron_variant MODIFIER c.190+168delT
c.190+168delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194662
chr6:75194739 A
A
 T
T
 156 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(153): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 160 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(157): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.190+92T>A
c.190+92T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194739
chr6:75194781 G
G
 A
A
 1 a0001c0001t0021g0201
a0001c0001t0021g0201
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.190+50C>T
c.190+50C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 3/65 chr6 75194781
chr6:75195105 C
C
 T
T
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.74-158G>A
c.74-158G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75195105
chr6:75195128 G
G
 C
C
 4 a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
others(1): Show 
a0001c0001t0001g0130
a0001c0005t0005g0129
a0002c0002t0001g0131
a0004c0004t0018g0132
 4 HG00741.hp1
HG02145.hp2
HG03710.hp2
others(1): Show 
HG00741.hp1
HG02145.hp2
HG03710.hp2
NA20805.hp1
 intron_variant MODIFIER c.74-181C>G
c.74-181C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75195128
chr6:75195133 T
T
 C
C
 1 a0001c0001t0004g0090
a0001c0001t0004g0090
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.74-186A>G
c.74-186A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75195133
chr6:75195214 T
T
 C
C
 1 a0025c0047t0005g0192
a0025c0047t0005g0192
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.74-267A>G
c.74-267A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75195214
chr6:75195478 T
T
 C
C
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.74-531A>G
c.74-531A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75195478
chr6:75195650 G
G
 T
T
 9 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(6): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 10 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(7): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.74-703C>A
c.74-703C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75195650
chr6:75196107 C
C
 G
G
 1 a0001c0001t0010g0171
a0001c0001t0010g0171
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.74-1160G>C
c.74-1160G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75196107
chr6:75196458 C
C
 T
T
 110 a0001c0001t0001g0004
a0001c0001t0001g0051
a0001c0001t0001g0054
others(107): Show 
a0001c0001t0001g0004
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0026c0048t0001g0117
 112 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(109): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp2
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.74-1511G>A
c.74-1511G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75196458
chr6:75196494 G
G
 C
C
 3 a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
 3 HG01109.hp2
HG02559.hp1
HG03098.hp1
HG01109.hp2
HG02559.hp1
HG03098.hp1
 intron_variant MODIFIER c.74-1547C>G
c.74-1547C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75196494
chr6:75196777 A
A
 C
C
 1 a0003c0003t0016g0172
a0003c0003t0016g0172
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.74-1830T>G
c.74-1830T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75196777
chr6:75196972 T
T
 C
C
 9 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(6): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 10 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(7): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.74-2025A>G
c.74-2025A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75196972
chr6:75197170 A
A
 G
G
 1 a0001c0001t0004g0014
a0001c0001t0004g0014
 1 NA18945.hp1
NA18945.hp1
 intron_variant MODIFIER c.74-2223T>C
c.74-2223T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197170
chr6:75197175 T
T
 C
C
 2 a0010c0014t0005g0197
a0029c0052t0008g0198
a0010c0014t0005g0197
a0029c0052t0008g0198
 2 HG02109.hp2
HG02647.hp1
HG02109.hp2
HG02647.hp1
 intron_variant MODIFIER c.74-2228A>G
c.74-2228A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197175
chr6:75197183 G
G
 A
A
 2 a0010c0014t0005g0197
a0029c0052t0008g0198
a0010c0014t0005g0197
a0029c0052t0008g0198
 2 HG02109.hp2
HG02647.hp1
HG02109.hp2
HG02647.hp1
 intron_variant MODIFIER c.74-2236C>T
c.74-2236C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197183
chr6:75197295 G
G
 A
A
 2 a0010c0014t0005g0197
a0029c0052t0008g0198
a0010c0014t0005g0197
a0029c0052t0008g0198
 2 HG02109.hp2
HG02647.hp1
HG02109.hp2
HG02647.hp1
 intron_variant MODIFIER c.74-2348C>T
c.74-2348C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197295
chr6:75197313 CT
CT
 C
C
 37 a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
others(34): Show 
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0004g0183
a0001c0001t0021g0201
a0001c0005t0005g0170
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0175
a0002c0054t0003g0193
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0003g0177
a0003c0003t0016g0172
a0004c0004t0001g0173
a0004c0004t0001g0189
a0006c0026t0006g0168
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0017c0034t0006g0200
a0020c0030t0020g0202
a0021c0033t0002g0186
a0025c0047t0005g0192
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 37 HG00621.hp1
HG01109.hp2
HG01891.hp1
others(34): Show 
HG00621.hp1
HG01109.hp2
HG01891.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02109.hp2
HG02145.hp1
HG02148.hp2
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03486.hp2
HG03704.hp1
HG04115.hp2
NA18747.hp1
NA18945.hp2
NA18979.hp1
NA18982.hp1
NA19030.hp1
NA19070.hp2
NA19087.hp2
NA19240.hp1
NA20805.hp2
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.74-2367delA
c.74-2367delA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197313
chr6:75197315 T
T
 TTTC
TTTC
 145 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(142): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
 148 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(145): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.74-2369_74-2368ins
others(3): Show 
c.74-2369_74-2368insGAA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197315
chr6:75197566 C
C
 G
G
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.74-2619G>C
c.74-2619G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197566
chr6:75197613 G
G
 A
A
 1 a0006c0007t0005g0044
a0006c0007t0005g0044
 1 HG02572.hp2
HG02572.hp2
 intron_variant MODIFIER c.74-2666C>T
c.74-2666C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197613
chr6:75197818 C
C
 T
T
 1 a0002c0002t0002g0053
a0002c0002t0002g0053
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.74-2871G>A
c.74-2871G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75197818
chr6:75198099 T
T
 A
A
 1 a0001c0022t0001g0136
a0001c0022t0001g0136
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.74-3152A>T
c.74-3152A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75198099
chr6:75198165 T
T
 C
C
 1 a0001c0001t0004g0137
a0001c0001t0004g0137
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.74-3218A>G
c.74-3218A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75198165
chr6:75198370 C
C
 T
T
 9 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(6): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0022c0028t0005g0032
 10 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(7): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
 intron_variant MODIFIER c.74-3423G>A
c.74-3423G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75198370
chr6:75198637 G
G
 T
T
 3 a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0002g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0002g0091
 3 NA18988.hp2
NA18993.hp1
NA19084.hp1
NA18988.hp2
NA18993.hp1
NA19084.hp1
 intron_variant MODIFIER c.74-3690C>A
c.74-3690C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75198637
chr6:75198694 T
T
 C
C
 1 a0004c0012t0001g0052
a0004c0012t0001g0052
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.74-3747A>G
c.74-3747A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75198694
chr6:75198918 G
G
 A
A
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.73+3802C>T
c.73+3802C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75198918
chr6:75198954 G
G
 A
A
 3 a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0039t0001g0140
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0039t0001g0140
 3 HG01261.hp1
HG02976.hp2
NA18906.hp1
HG01261.hp1
HG02976.hp2
NA18906.hp1
 intron_variant MODIFIER c.73+3766C>T
c.73+3766C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75198954
chr6:75199017 A
A
 G
G
 1 a0001c0001t0004g0013
a0001c0001t0004g0013
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.73+3703T>C
c.73+3703T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199017
chr6:75199034 T
T
 C
C
 3 a0001c0001t0001g0046
a0009c0010t0005g0045
a0024c0020t0007g0047
a0001c0001t0001g0046
a0009c0010t0005g0045
a0024c0020t0007g0047
 3 HG01069.hp2
HG01071.hp1
HG01109.hp1
HG01069.hp2
HG01071.hp1
HG01109.hp1
 intron_variant MODIFIER c.73+3686A>G
c.73+3686A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199034
chr6:75199440 G
G
 A
A
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.73+3280C>T
c.73+3280C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199440
chr6:75199470 T
T
 C
C
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.73+3250A>G
c.73+3250A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199470
chr6:75199594 T
T
 C
C
 166 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(163): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 170 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(167): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.73+3126A>G
c.73+3126A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199594
chr6:75199717 C
C
 T
T
 10 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(7): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0036
a0022c0028t0005g0032
 11 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(8): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
 intron_variant MODIFIER c.73+3003G>A
c.73+3003G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199717
chr6:75199751 T
T
 C
C
 1 a0002c0054t0003g0193
a0002c0054t0003g0193
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.73+2969A>G
c.73+2969A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199751
chr6:75199888 G
G
 C
C
 147 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.73+2832C>G
c.73+2832C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75199888
chr6:75200086 C
C
 T
T
 3 a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
a0001c0005t0005g0170
a0002c0002t0008g0169
a0006c0026t0006g0168
 3 HG01109.hp2
HG02559.hp1
HG03098.hp1
HG01109.hp2
HG02559.hp1
HG03098.hp1
 intron_variant MODIFIER c.73+2634G>A
c.73+2634G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200086
chr6:75200221 C
C
 T
T
 10 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(7): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0036
a0022c0028t0005g0032
 11 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(8): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
 intron_variant MODIFIER c.73+2499G>A
c.73+2499G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200221
chr6:75200245 G
G
 A
A
 7 a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
others(4): Show 
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 7 HG01891.hp1
HG02109.hp2
HG02647.hp1
others(4): Show 
HG01891.hp1
HG02109.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.73+2475C>T
c.73+2475C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200245
chr6:75200247 A
A
 G
G
 157 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(154): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 161 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(158): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.73+2473T>C
c.73+2473T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200247
chr6:75200255 A
A
 G
G
 44 a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
others(41): Show 
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0153
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0037t0001g0064
a0001c0043t0001g0078
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0003c0003t0001g0057
a0003c0003t0001g0067
a0004c0004t0001g0083
a0014c0025t0001g0069
 44 HG00438.hp2
HG00621.hp2
HG00741.hp2
others(41): Show 
HG00438.hp2
HG00621.hp2
HG00741.hp2
HG01071.hp2
HG01243.hp1
HG01496.hp1
HG01928.hp1
HG01975.hp1
HG01978.hp2
HG02056.hp2
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02148.hp1
HG02293.hp2
HG02523.hp1
HG02602.hp2
HG02698.hp2
HG02735.hp1
HG03491.hp1
HG03704.hp2
HG04199.hp2
HG04204.hp1
NA18747.hp2
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18968.hp1
NA18982.hp2
NA18984.hp1
NA18985.hp2
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19064.hp1
NA19066.hp1
NA19068.hp1
NA19090.hp1
NA19091.hp1
NA20300.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.73+2465T>C
c.73+2465T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200255
chr6:75200282 A
A
 T
T
 147 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.73+2438T>A
c.73+2438T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200282
chr6:75200295 C
C
 T
T
 2 a0002c0054t0003g0193
a0020c0030t0020g0202
a0002c0054t0003g0193
a0020c0030t0020g0202
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.73+2425G>A
c.73+2425G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200295
chr6:75200524 G
G
 A
A
 4 a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0005t0002g0142
others(1): Show 
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0005t0002g0142
a0001c0005t0002g0143
 4 HG02698.hp2
NA18944.hp2
NA18948.hp1
others(1): Show 
HG02698.hp2
NA18944.hp2
NA18948.hp1
NA19063.hp1
 intron_variant MODIFIER c.73+2196C>T
c.73+2196C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200524
chr6:75200649 A
A
 G
G
 2 a0002c0054t0003g0193
a0020c0030t0020g0202
a0002c0054t0003g0193
a0020c0030t0020g0202
 2 HG03486.hp2
NA19240.hp1
HG03486.hp2
NA19240.hp1
 intron_variant MODIFIER c.73+2071T>C
c.73+2071T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200649
chr6:75200658 G
G
 A
A
 10 a0001c0001t0003g0150
a0001c0041t0007g0146
a0002c0002t0001g0151
others(7): Show 
a0001c0001t0003g0150
a0001c0041t0007g0146
a0002c0002t0001g0151
a0002c0006t0014g0050
a0005c0013t0006g0147
a0005c0013t0006g0148
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0027c0018t0007g0145
 10 HG02145.hp1
HG02293.hp1
HG02615.hp2
others(7): Show 
HG02145.hp1
HG02293.hp1
HG02615.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02895.hp2
HG03471.hp1
NA20300.hp2
 intron_variant MODIFIER c.73+2062C>T
c.73+2062C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200658
chr6:75200883 A
A
 G
G
 1 a0004c0012t0001g0052
a0004c0012t0001g0052
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.73+1837T>C
c.73+1837T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200883
chr6:75200936 A
A
 T
T
 147 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.73+1784T>A
c.73+1784T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200936
chr6:75200945 CA
CA
 C
C
 11 a0001c0001t0001g0051
a0003c0003t0001g0031
a0003c0003t0003g0002
others(8): Show 
a0001c0001t0001g0051
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0036
a0022c0028t0005g0032
 12 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(9): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA18747.hp2
 intron_variant MODIFIER c.73+1774delT
c.73+1774delT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200945
chr6:75200946 A
A
 C
C
 2 a0002c0017t0002g0037
a0005c0016t0006g0028
a0002c0017t0002g0037
a0005c0016t0006g0028
 2 HG02976.hp1
HG03195.hp1
HG02976.hp1
HG03195.hp1
 intron_variant MODIFIER c.73+1774T>G
c.73+1774T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200946
chr6:75200958 A
A
 C
C
 1 a0003c0003t0001g0167
a0003c0003t0001g0167
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.73+1762T>G
c.73+1762T>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200958
chr6:75200980 T
T
 C
C
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.73+1740A>G
c.73+1740A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75200980
chr6:75201101 A
A
 G
G
 1 a0002c0006t0014g0050
a0002c0006t0014g0050
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.73+1619T>C
c.73+1619T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201101
chr6:75201119 C
C
 T
T
 147 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(144): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 150 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(147): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.73+1601G>A
c.73+1601G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201119
chr6:75201137 T
T
 G
G
 1 a0001c0001t0001g0152
a0001c0001t0001g0152
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.73+1583A>C
c.73+1583A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201137
chr6:75201594 T
T
 C
C
 1 a0001c0001t0001g0153
a0001c0001t0001g0153
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.73+1126A>G
c.73+1126A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201594
chr6:75201629 G
G
 GA
GA
 15 a0001c0001t0001g0165
a0002c0002t0001g0012
a0002c0017t0002g0037
others(12): Show 
a0001c0001t0001g0165
a0002c0002t0001g0012
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0016t0006g0028
a0012c0015t0009g0027
a0022c0028t0005g0032
 16 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(13): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp2
HG03540.hp2
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18962.hp2
 intron_variant MODIFIER c.73+1090dupT
c.73+1090dupT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201629
chr6:75201629 G
G
 GAA
GAA
 20 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(17): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 20 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(17): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.73+1089_73+1090dup
others(2): Show 
c.73+1089_73+1090dupTT
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201629
chr6:75201857 G
G
 T
T
 1 a0003c0003t0004g0049
a0003c0003t0004g0049
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.73+863C>A
c.73+863C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201857
chr6:75201863 AC
AC
 A
A
 6 a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
others(3): Show 
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 6 HG02109.hp2
HG02647.hp1
HG02717.hp2
others(3): Show 
HG02109.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.73+856delG
c.73+856delG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201863
chr6:75201993 C
C
 T
T
 1 a0001c0019t0005g0048
a0001c0019t0005g0048
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.73+727G>A
c.73+727G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75201993
chr6:75202032 G
G
 C
C
 2 a0010c0014t0005g0197
a0029c0052t0008g0198
a0010c0014t0005g0197
a0029c0052t0008g0198
 2 HG02109.hp2
HG02647.hp1
HG02109.hp2
HG02647.hp1
 intron_variant MODIFIER c.73+688C>G
c.73+688C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75202032
chr6:75202077 A
A
 T
T
 13 a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
others(10): Show 
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0016t0006g0028
a0012c0015t0009g0027
a0022c0028t0005g0032
 14 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(11): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.73+643T>A
c.73+643T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75202077
chr6:75202083 G
G
 C
C
 6 a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
others(3): Show 
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 6 HG02109.hp2
HG02647.hp1
HG02717.hp2
others(3): Show 
HG02109.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG03098.hp2
HG03225.hp2
 intron_variant MODIFIER c.73+637C>G
c.73+637C>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75202083
chr6:75202326 G
G
 A
A
 1 a0019c0040t0005g0154
a0019c0040t0005g0154
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.73+394C>T
c.73+394C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75202326
chr6:75202399 C
C
 G
G
 1 a0011c0049t0003g0166
a0011c0049t0003g0166
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.73+321G>C
c.73+321G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75202399
chr6:75202580 G
G
 A
A
 2 a0001c0001t0001g0025
a0002c0002t0001g0024
a0001c0001t0001g0025
a0002c0002t0001g0024
 2 HG01928.hp2
HG02004.hp2
HG01928.hp2
HG02004.hp2
 intron_variant MODIFIER c.73+140C>T
c.73+140C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75202580
chr6:75202695 G
G
 A
A
 13 a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
others(10): Show 
a0002c0017t0002g0037
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0016t0006g0028
a0012c0015t0009g0027
a0022c0028t0005g0032
 14 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(11): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp1
HG03195.hp1
HG03471.hp2
HG03540.hp2
HG06807.hp1
NA18522.hp1
 intron_variant MODIFIER c.73+25C>T
c.73+25C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 2/65 chr6 75202695
chr6:75202981 G
G
 A
A
 1 a0028c0053t0007g0199
a0028c0053t0007g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-35-154C>T
c.-35-154C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75202981
chr6:75203206 CT
CT
 C
C
 193 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(190): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0174
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0004g0183
a0001c0001t0010g0171
a0001c0001t0019g0077
a0001c0001t0021g0201
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0005t0005g0170
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0001g0178
a0002c0002t0001g0191
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0002t0002g0176
a0002c0002t0008g0169
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0002g0175
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0001g0167
a0003c0003t0001g0179
a0003c0003t0001g0180
a0003c0003t0001g0182
a0003c0003t0001g0187
a0003c0003t0001g0188
a0003c0003t0001g0190
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0003g0177
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0003t0016g0172
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0001g0173
a0004c0004t0001g0189
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0006c0026t0006g0168
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0049t0003g0166
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0017c0034t0006g0200
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0021c0033t0002g0186
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0025c0047t0005g0192
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 197 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(194): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01109.hp2
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19030.hp1
NA19030.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-35-380delA
c.-35-380delA
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75203206
chr6:75203419 T
T
 C
C
 144 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(141): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 147 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(144): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-35-592A>G
c.-35-592A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75203419
chr6:75203583 G
G
 A
A
 1 a0001c0001t0003g0155
a0001c0001t0003g0155
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-35-756C>T
c.-35-756C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75203583
chr6:75203752 A
A
 G
G
 6 a0001c0001t0001g0009
a0001c0001t0001g0011
a0002c0002t0001g0006
others(3): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
 6 HG02071.hp2
NA18968.hp2
NA18988.hp1
others(3): Show 
HG02071.hp2
NA18968.hp2
NA18988.hp1
NA18994.hp1
NA19066.hp2
NA19068.hp2
 intron_variant MODIFIER c.-35-925T>C
c.-35-925T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75203752
chr6:75203855 T
T
 A
A
 165 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(162): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0002c0054t0003g0193
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0010c0014t0002g0196
a0010c0014t0005g0197
a0011c0051t0007g0194
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0020c0030t0020g0202
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
a0028c0053t0007g0199
a0029c0052t0008g0198
a0030c0050t0010g0195
 169 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(166): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-35-1028A>T
c.-35-1028A>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75203855
chr6:75203894 A
A
 T
T
 1 a0002c0002t0001g0006
a0002c0002t0001g0006
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.-35-1067T>A
c.-35-1067T>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75203894
chr6:75203898 G
G
 T
T
 10 a0001c0001t0001g0046
a0003c0021t0013g0043
a0006c0007t0005g0044
others(7): Show 
a0001c0001t0001g0046
a0003c0021t0013g0043
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0024c0020t0007g0047
 11 HG01069.hp2
HG01071.hp1
HG01109.hp1
others(8): Show 
HG01069.hp2
HG01071.hp1
HG01109.hp1
HG02572.hp2
HG02895.hp1
HG02896.hp2
HG02897.hp1
HG03209.hp1
HG03516.hp1
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.-35-1071C>A
c.-35-1071C>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75203898
chr6:75204004 A
A
 G
G
 10 a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
others(7): Show 
a0003c0003t0001g0031
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0032t0003g0029
a0004c0012t0011g0005
a0005c0008t0006g0036
a0022c0028t0005g0032
 11 HG01891.hp2
HG02109.hp1
HG02572.hp1
others(8): Show 
HG01891.hp2
HG02109.hp1
HG02572.hp1
HG02615.hp1
HG02647.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03471.hp2
HG03540.hp2
NA18522.hp1
 intron_variant MODIFIER c.-35-1177T>C
c.-35-1177T>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204004
chr6:75204037 T
T
 G
G
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-35-1210A>C
c.-35-1210A>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204037
chr6:75204234 A
A
 ATTGTTCC
others(322): Show 
ATTGTTCCAATCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA
GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC
GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG
CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT
TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC
TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG
GATTACAGGCGTGAGCCACCGCGCCCGGCC
 1 a0005c0016t0006g0028
a0005c0016t0006g0028
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.-35-1408_-35-1407i
others(331): Show 
c.-35-1408_-35-1407insGGCCGGGCGCGGTGGCTCACGCCTGTAA
TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATC
GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA
AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA
GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG
CCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAG
ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGATTGGAACA
A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204234
chr6:75204293 G
G
 A
A
 21 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(18): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0005t0001g0038
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 21 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(18): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18993.hp2
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.-35-1466C>T
c.-35-1466C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204293
chr6:75204480 C
C
 G
G
 1 a0012c0015t0009g0027
a0012c0015t0009g0027
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.-36+1297G>C
c.-36+1297G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204480
chr6:75204501 T
T
 C
C
 2 a0003c0003t0003g0156
a0004c0004t0003g0157
a0003c0003t0003g0156
a0004c0004t0003g0157
 2 HG02486.hp2
NA18906.hp2
HG02486.hp2
NA18906.hp2
 intron_variant MODIFIER c.-36+1276A>G
c.-36+1276A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204501
chr6:75204520 T
T
 C
C
 157 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(154): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 161 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(158): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-36+1257A>G
c.-36+1257A>G
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204520
chr6:75204610 G
G
 A
A
 123 a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
others(120): Show 
a0001c0001t0001g0004
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0023t0005g0123
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 126 HG00408.hp2
HG00438.hp1
HG00438.hp2
others(123): Show 
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02015.hp2
HG02056.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02965.hp2
HG02976.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18946.hp1
NA18948.hp1
NA18952.hp1
NA18952.hp2
NA18966.hp2
NA18968.hp1
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19068.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-36+1167C>T
c.-36+1167C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204610
chr6:75204782 T
T
 TCA
TCA
 2 a0001c0001t0021g0201
a0017c0034t0006g0200
a0001c0001t0021g0201
a0017c0034t0006g0200
 2 HG02559.hp2
HG03486.hp1
HG02559.hp2
HG03486.hp1
 intron_variant MODIFIER c.-36+993_-36+994dup
others(2): Show 
c.-36+993_-36+994dupTG
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204782
chr6:75204924 G
G
 A
A
 2 a0003c0003t0003g0156
a0004c0004t0003g0157
a0003c0003t0003g0156
a0004c0004t0003g0157
 2 HG02486.hp2
NA18906.hp2
HG02486.hp2
NA18906.hp2
 intron_variant MODIFIER c.-36+853C>T
c.-36+853C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75204924
chr6:75205171 G
G
 A
A
 1 a0020c0030t0020g0202
a0020c0030t0020g0202
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.-36+606C>T
c.-36+606C>T
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75205171
chr6:75205208 C
C
 T
T
 1 a0003c0003t0004g0001
a0003c0003t0004g0001
 2 HG01261.hp2
HG01496.hp2
HG01261.hp2
HG01496.hp2
 intron_variant MODIFIER c.-36+569G>A
c.-36+569G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75205208
chr6:75205382 C
C
 G
G
 1 a0023c0029t0001g0026
a0023c0029t0001g0026
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.-36+395G>C
c.-36+395G>C
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75205382
chr6:75205640 C
C
 T
T
 157 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
others(154): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0001g0046
a0001c0001t0001g0051
a0001c0001t0001g0054
a0001c0001t0001g0055
a0001c0001t0001g0056
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0068
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0074
a0001c0001t0001g0076
a0001c0001t0001g0081
a0001c0001t0001g0084
a0001c0001t0001g0087
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0116
a0001c0001t0001g0121
a0001c0001t0001g0130
a0001c0001t0001g0141
a0001c0001t0001g0144
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0002g0017
a0001c0001t0002g0091
a0001c0001t0003g0138
a0001c0001t0003g0139
a0001c0001t0003g0150
a0001c0001t0003g0155
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0001t0004g0073
a0001c0001t0004g0082
a0001c0001t0004g0090
a0001c0001t0004g0105
a0001c0001t0004g0115
a0001c0001t0004g0124
a0001c0001t0004g0137
a0001c0001t0019g0077
a0001c0001t0022g0063
a0001c0005t0001g0038
a0001c0005t0001g0075
a0001c0005t0002g0098
a0001c0005t0002g0142
a0001c0005t0002g0143
a0001c0005t0005g0129
a0001c0019t0005g0048
a0001c0022t0001g0136
a0001c0035t0003g0101
a0001c0037t0001g0064
a0001c0038t0004g0023
a0001c0039t0001g0140
a0001c0041t0007g0146
a0001c0043t0001g0078
a0001c0045t0003g0134
a0001c0046t0007g0133
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
a0002c0002t0001g0060
a0002c0002t0001g0071
a0002c0002t0001g0079
a0002c0002t0001g0080
a0002c0002t0001g0086
a0002c0002t0001g0088
a0002c0002t0001g0089
a0002c0002t0001g0097
a0002c0002t0001g0102
a0002c0002t0001g0112
a0002c0002t0001g0113
a0002c0002t0001g0122
a0002c0002t0001g0131
a0002c0002t0001g0151
a0002c0002t0002g0053
a0002c0002t0002g0085
a0002c0006t0002g0066
a0002c0006t0002g0106
a0002c0006t0002g0119
a0002c0006t0014g0050
a0002c0017t0002g0037
a0002c0023t0005g0123
a0003c0003t0001g0031
a0003c0003t0001g0057
a0003c0003t0001g0067
a0003c0003t0001g0096
a0003c0003t0001g0109
a0003c0003t0001g0110
a0003c0003t0001g0111
a0003c0003t0001g0114
a0003c0003t0001g0126
a0003c0003t0002g0100
a0003c0003t0003g0002
a0003c0003t0003g0030
a0003c0003t0003g0033
a0003c0003t0003g0034
a0003c0003t0003g0035
a0003c0003t0003g0156
a0003c0003t0004g0001
a0003c0003t0004g0049
a0003c0003t0007g0120
a0003c0021t0013g0043
a0003c0027t0009g0125
a0003c0031t0001g0107
a0003c0032t0003g0029
a0004c0004t0001g0083
a0004c0004t0001g0108
a0004c0004t0003g0157
a0004c0004t0017g0099
a0004c0004t0018g0132
a0004c0012t0001g0052
a0004c0012t0011g0005
a0005c0008t0006g0036
a0005c0008t0006g0128
a0005c0013t0006g0147
a0005c0013t0006g0148
a0005c0016t0006g0028
a0006c0007t0005g0044
a0006c0007t0006g0039
a0006c0007t0006g0040
a0007c0009t0002g0003
a0008c0011t0007g0042
a0008c0011t0012g0041
a0009c0010t0005g0045
a0009c0010t0005g0127
a0012c0015t0009g0027
a0013c0024t0003g0118
a0014c0025t0001g0069
a0015c0042t0002g0094
a0016c0044t0015g0135
a0018c0036t0005g0149
a0019c0040t0005g0154
a0022c0028t0005g0032
a0023c0029t0001g0026
a0024c0020t0007g0047
a0026c0048t0001g0117
a0027c0018t0007g0145
 161 HG00408.hp1
HG00408.hp2
HG00438.hp1
others(158): Show 
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00438.hp2
HG00621.hp2
HG00673.hp1
HG00673.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01109.hp1
HG01243.hp1
HG01243.hp2
HG01261.hp1
HG01261.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03942.hp2
HG04115.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp2
NA18982.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18999.hp1
NA18999.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19084.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-36+137G>A
c.-36+137G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75205640
chr6:75205641 C
C
 T
T
 20 a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
others(17): Show 
a0001c0001t0001g0009
a0001c0001t0001g0011
a0001c0001t0001g0018
a0001c0001t0001g0025
a0001c0001t0002g0017
a0001c0001t0004g0013
a0001c0001t0004g0014
a0001c0001t0004g0019
a0001c0038t0004g0023
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0008
a0002c0002t0001g0010
a0002c0002t0001g0012
a0002c0002t0001g0015
a0002c0002t0001g0016
a0002c0002t0001g0020
a0002c0002t0001g0021
a0002c0002t0001g0022
a0002c0002t0001g0024
 20 HG00408.hp1
HG00673.hp2
HG01928.hp2
others(17): Show 
HG00408.hp1
HG00673.hp2
HG01928.hp2
HG02004.hp2
HG02056.hp1
HG02071.hp2
HG02074.hp2
NA18945.hp1
NA18946.hp2
NA18948.hp2
NA18962.hp1
NA18962.hp2
NA18966.hp1
NA18968.hp2
NA18988.hp1
NA18994.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp1
NA19091.hp2
 intron_variant MODIFIER c.-36+136G>A
c.-36+136G>A
COL12A1 ENSG00000111799.22 transcript ENST00000322507.13 protein_coding 1/65 chr6 75205641

  • 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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