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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   COL2A1_chr12_47967967_48009476  COL2A1_chr12_47967967_48009476 (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 1280
ensemblid ENSG00000139219.19
hgncid 2200
symbol COL2A1
name collagen type II alpha 1 chain
refseq_nuc NM_001844.5
refseq_prot NP_001835.3
ensembl_nuc ENST00000380518.8
ensembl_prot ENSP00000369889.3
mane_status MANE Select
chr chr12
start 47972967
end 48004476
strand -
ver v1.2
region chr12:47972967-48004476
region5000 chr12:47967967-48009476
regionname0 COL2A1_chr12_47972967_48004476
regionname5000 COL2A1_chr12_47967967_48009476

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 1487 223 59 42 82 10 30 64 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002 0/1 1487 74 0 13 54 2 4 42 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003 1/0 1487 65 33 12 14 1 4 12 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004 0/0 1487 30 0 1 24 0 5 15 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0005 0/0 1487 7 1 6 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0006 0/0 1487 2 0 0 0 1 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0007 0/0 1487 2 0 0 2 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0008 0/0 1487 2 0 0 2 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0009 0/0 1487 2 0 0 2 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0010 0/0 1487 1 1 0 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0011 0/0 1487 1 1 0 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0012 0/0 1487 1 0 0 1 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0013 0/0 1487 1 1 0 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0014 0/0 1487 1 0 0 1 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0015 0/0 1483 1 0 0 1 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0016 0/0 1487 1 0 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 4464 72 0 13 52 2 4 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0002 0/0 4464 70 4 16 34 4 12 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0003 0/0 4464 50 22 12 6 2 8 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0004 0/0 4464 47 6 9 19 3 10 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0005 1/0 4464 26 12 10 1 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0006 0/0 4464 21 0 0 21 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0007 0/0 4464 13 0 1 8 0 4 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0008 0/0 4464 11 10 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0009 0/0 4464 10 6 1 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0010 0/0 4464 7 0 0 7 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0011 0/0 4464 7 1 6 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0012 0/0 4464 6 3 1 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0013 0/0 4464 6 0 0 6 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0014 0/0 4464 5 4 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0015 0/0 4464 5 0 0 4 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0016 0/0 4464 4 2 0 1 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0017 0/0 4464 4 0 0 4 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0018 0/0 4464 4 4 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0019 0/0 4464 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0020 0/0 4464 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0021 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0022 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0023 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0024 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0025 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0026 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0027 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0028 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0029 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0030 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0031 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0032 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0033 0/0 4452 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0034 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0035 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0036 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0037 0/0 4464 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0038 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0039 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0040 0/0 4464 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0041 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0042 0/0 4464 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0043 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0044 0/0 4464 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0045 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0046 0/0 4464 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0047 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0048 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0049 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0050 0/0 4464 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0051 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
c0052 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 596 273 55 49 120 11 37 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0002 1/0 596 113 26 25 54 1 6 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0003 0/0 596 8 8 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0004 0/0 596 4 2 0 0 1 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0005 0/0 596 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0006 0/0 596 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0007 0/0 596 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0008 0/0 596 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0009 0/0 596 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0010 0/0 596 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0011 0/0 596 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
t0012 0/0 596 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 26 0 4 22 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0002 0/0 15 1 4 8 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0003 0/0 12 0 0 12 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0004 0/0 11 0 3 8 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0005 0/0 7 0 2 3 2 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0006 0/0 5 1 0 1 0 3 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0007 1/0 4 0 2 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0008 0/0 4 0 4 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0009 0/0 4 4 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0010 0/0 4 4 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0011 0/0 4 0 2 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0012 0/0 4 0 1 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0013 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0014 0/0 3 0 3 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0015 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0016 0/1 3 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0017 0/0 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0018 0/0 3 0 0 0 0 3 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0019 0/0 3 0 3 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0020 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0021 0/0 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0022 0/0 3 0 2 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0023 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0024 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0025 0/0 3 0 2 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0026 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0027 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0028 0/0 2 1 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0029 0/0 2 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0030 0/0 2 1 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0031 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0032 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0033 0/0 2 0 2 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0034 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0035 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0036 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0037 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0038 0/0 2 0 2 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0039 0/0 2 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0040 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0041 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0042 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0043 0/0 2 1 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0044 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0045 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0046 0/0 2 0 1 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0047 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0048 0/0 2 0 1 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0049 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0050 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0051 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0052 0/0 2 0 0 0 2 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0053 0/0 2 0 2 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0054 0/0 2 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0055 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0056 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0057 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0058 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0059 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0060 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0061 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0062 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0063 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0064 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0065 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0066 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0067 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0068 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0069 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0070 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0071 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0072 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0073 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0074 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0075 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0076 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0077 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0078 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0079 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0080 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0081 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0082 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0083 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0084 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0085 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0086 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0087 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0088 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0089 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0090 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0091 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0092 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0093 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0094 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0095 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0096 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0097 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0098 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0099 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0100 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0101 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0102 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0103 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0104 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0105 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0106 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0107 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0108 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0109 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0110 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0111 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0112 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0113 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0114 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0115 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0116 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0117 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0118 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0119 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0120 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0121 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0122 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0123 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0124 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0125 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0126 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0127 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0128 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0129 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0130 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0131 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0132 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0133 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0134 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0135 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0136 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0137 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0138 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0139 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0140 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0141 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0142 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0143 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0144 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0145 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0146 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0147 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0148 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0149 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0150 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0151 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0152 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0153 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0154 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0155 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0156 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0157 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0158 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0159 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0160 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0161 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0162 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0163 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0164 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0165 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0166 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0167 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0168 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0169 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0170 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0171 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0172 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0173 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0174 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0175 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0176 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0177 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0178 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0179 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0180 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0181 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0182 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0183 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0184 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0185 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0186 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0187 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0188 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0189 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0190 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0191 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0192 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0193 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0194 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0195 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0196 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0197 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0198 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0199 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0200 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0201 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0202 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0203 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0204 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0205 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0206 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0207 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0208 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0209 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0210 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0211 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0212 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0213 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0214 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0215 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0216 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0217 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0218 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0219 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0220 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0221 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0222 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0223 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0224 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0225 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0226 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0227 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0228 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0229 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0230 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0231 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0232 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0233 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0234 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0235 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0236 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0237 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0238 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0239 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0240 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0241 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0242 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0243 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0244 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0245 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0246 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0247 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0248 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0249 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0250 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0251 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0252 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0253 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0254 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0255 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0256 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0257 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0258 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0259 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0260 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0261 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0262 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0263 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0264 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0265 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0266 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0267 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
g0268 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0002 0/0 4464 70 4 16 34 4 12 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0003 0/0 4464 50 22 12 6 2 8 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0004 0/0 4464 47 6 9 19 3 10 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0006 0/0 4464 21 0 0 21 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0008 0/0 4464 11 10 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0014 0/0 4464 5 4 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0018 0/0 4464 4 4 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0026 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0027 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0038 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0039 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0040 0/0 4464 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0041 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0042 0/0 4464 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0043 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0046 0/0 4464 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0047 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0048 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0050 0/0 4464 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0051 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002c0001 0/1 4464 72 0 13 52 2 4 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002c0025 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0005 1/0 4464 26 12 10 1 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0009 0/0 4464 10 6 1 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0012 0/0 4464 6 3 1 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0013 0/0 4464 6 0 0 6 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0016 0/0 4464 4 2 0 1 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0019 0/0 4464 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0020 0/0 4464 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0021 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0023 0/0 4464 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0030 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0031 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0032 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0007 0/0 4464 13 0 1 8 0 4 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0010 0/0 4464 7 0 0 7 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0015 0/0 4464 5 0 0 4 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0017 0/0 4464 4 0 0 4 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0049 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0005c0011 0/0 4464 7 1 6 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0006c0037 0/0 4464 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0006c0044 0/0 4464 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0007c0028 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0008c0024 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0009c0022 0/0 4464 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0010c0052 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0011c0045 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0012c0036 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0013c0035 0/0 4464 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0014c0034 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0015c0033 0/0 4452 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0016c0029 0/0 4464 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0002t0001 0/0 5059 69 3 16 34 4 12 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0002t0003 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0003t0001 0/0 5059 43 16 12 6 1 8 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0003t0003 0/0 5059 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0003t0007 0/0 5059 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0003t0011 0/0 5059 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0004t0001 0/0 5059 47 6 9 19 3 10 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0006t0001 0/0 5059 20 0 0 20 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0006t0006 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0008t0001 0/0 5059 11 10 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0014t0001 0/0 5059 5 4 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0018t0003 0/0 5059 4 4 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0026t0004 0/0 5059 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0027t0001 0/0 5059 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0038t0001 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0039t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0040t0001 0/0 5059 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0041t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0042t0001 0/0 5059 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0043t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0046t0001 0/0 5059 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0047t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0048t0001 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0050t0001 0/0 5059 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0001c0051t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002c0001t0001 0/1 5059 9 0 0 4 2 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002c0001t0002 0/0 5059 59 0 13 44 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002c0001t0005 0/0 5059 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002c0001t0010 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0002c0025t0002 0/0 5059 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0005t0001 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0005t0002 1/0 5059 23 10 10 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0005t0009 0/0 5059 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0009t0001 0/0 5059 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0009t0002 0/0 5059 7 6 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0012t0002 0/0 5059 6 3 1 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0013t0001 0/0 5059 5 0 0 5 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0013t0002 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0016t0001 0/0 5059 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0016t0002 0/0 5059 2 0 0 1 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0019t0001 0/0 5059 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0020t0001 0/0 5059 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0020t0002 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0021t0002 0/0 5059 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0023t0002 0/0 5059 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0030t0002 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0031t0002 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0003c0032t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0007t0001 0/0 5059 13 0 1 8 0 4 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0010t0001 0/0 5059 7 0 0 7 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0015t0001 0/0 5059 3 0 0 2 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0015t0006 0/0 5059 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0017t0001 0/0 5059 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0017t0012 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0004c0049t0001 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0005c0011t0001 0/0 5059 7 1 6 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0006c0037t0004 0/0 5059 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0006c0044t0004 0/0 5059 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0007c0028t0001 0/0 5059 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0008c0024t0002 0/0 5059 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0009c0022t0008 0/0 5059 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0010c0052t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0011c0045t0001 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0012c0036t0001 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0013c0035t0002 0/0 5059 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0014c0034t0002 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0015c0033t0002 0/0 5047 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476
a0016c0029t0002 0/0 5059 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 copy fasta chr12 47967967 48009476

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0002t0001g0002 0/0 15 1 4 8 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0005 0/0 7 0 2 3 2 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0018 0/0 3 0 0 0 0 3 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0019 0/0 3 0 3 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0020 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0038 0/0 2 0 2 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0039 0/0 2 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0040 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0055 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0141 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0142 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0146 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0148 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0149 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0150 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0151 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0154 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0155 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0156 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0157 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0159 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0161 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0162 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0164 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0165 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0166 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0167 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0168 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0169 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0170 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0171 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0172 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0174 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0175 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0176 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0180 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0181 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0225 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0001g0250 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0002t0003g0152 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0006 0/0 5 1 0 1 0 3 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0010 0/0 4 4 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0025 0/0 3 0 2 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0041 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0053 0/0 2 0 2 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0130 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0131 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0133 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0134 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0135 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0136 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0184 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0188 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0190 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0203 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0209 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0228 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0231 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0235 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0236 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0237 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0239 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0240 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0243 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0244 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0245 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0246 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0249 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0253 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0262 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0263 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0001g0267 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0003g0194 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0003g0195 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0003g0196 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0007g0021 0/0 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0003t0011g0242 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0011 0/0 4 0 2 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0012 0/0 4 0 1 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0022 0/0 3 0 2 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0023 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0046 0/0 2 0 1 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0048 0/0 2 0 1 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0049 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0051 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0052 0/0 2 0 0 0 2 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0056 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0057 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0137 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0200 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0210 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0213 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0216 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0218 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0219 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0223 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0226 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0227 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0230 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0234 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0241 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0251 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0252 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0255 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0256 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0257 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0004t0001g0266 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0001g0003 0/0 12 0 0 12 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0001g0042 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0001g0045 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0001g0139 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0001g0199 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0001g0206 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0001g0208 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0006t0006g0207 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0009 0/0 4 4 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0187 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0189 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0198 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0201 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0202 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0204 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0008t0001g0222 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0014t0001g0043 0/0 2 1 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0014t0001g0191 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0014t0001g0220 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0014t0001g0221 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0018t0003g0017 0/0 3 3 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0018t0003g0145 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0026t0004g0232 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0026t0004g0233 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0027t0001g0185 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0027t0001g0229 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0038t0001g0143 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0039t0001g0197 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0040t0001g0247 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0041t0001g0212 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0042t0001g0186 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0043t0001g0183 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0046t0001g0132 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0047t0001g0192 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0048t0001g0260 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0050t0001g0214 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0001c0051t0001g0205 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0001g0016 0/1 3 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0001g0117 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0001g0118 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0001g0121 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0001g0122 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0001g0123 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0001g0124 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0001 0/0 26 0 4 22 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0004 0/0 11 0 3 8 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0015 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0063 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0069 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0072 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0075 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0078 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0080 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0083 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0086 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0089 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0091 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0092 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0095 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0097 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0103 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0105 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0107 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0108 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0109 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0002g0111 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0005g0013 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0001t0010g0090 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0002c0025t0002g0031 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0001g0127 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0007 1/0 4 0 2 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0014 0/0 3 0 3 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0026 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0030 0/0 2 1 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0033 0/0 2 0 2 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0060 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0065 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0068 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0074 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0087 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0093 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0098 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0099 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0110 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0002g0112 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0009g0061 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0005t0009g0106 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0009t0001g0036 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0009t0001g0120 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0009t0002g0028 0/0 2 1 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0009t0002g0032 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0009t0002g0073 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0009t0002g0101 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0009t0002g0104 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0012t0002g0029 0/0 2 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0012t0002g0064 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0012t0002g0070 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0012t0002g0071 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0012t0002g0096 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0013t0001g0035 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0013t0001g0119 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0013t0001g0125 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0013t0001g0126 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0013t0002g0088 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0016t0001g0115 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0016t0001g0116 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0016t0002g0081 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0016t0002g0094 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0019t0001g0034 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0019t0001g0113 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0020t0001g0128 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0020t0001g0129 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0020t0002g0079 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0021t0002g0062 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0021t0002g0066 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0023t0002g0027 0/0 2 2 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0030t0002g0100 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0031t0002g0067 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0003c0032t0001g0114 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0024 0/0 3 0 0 3 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0054 0/0 2 0 0 0 0 2 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0140 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0144 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0211 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0217 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0238 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0248 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0254 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0007t0001g0264 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0010t0001g0037 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0010t0001g0050 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0010t0001g0160 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0010t0001g0163 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0010t0001g0224 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0015t0001g0047 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0015t0001g0258 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0015t0006g0259 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0015t0006g0265 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0017t0001g0138 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0017t0001g0147 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0017t0001g0173 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0017t0012g0177 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0004c0049t0001g0261 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0005c0011t0001g0008 0/0 4 0 4 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0005c0011t0001g0178 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0005c0011t0001g0179 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0005c0011t0001g0182 0/0 1 0 1 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0006c0037t0004g0158 0/0 1 0 0 0 0 1 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0006c0044t0004g0215 0/0 1 0 0 0 1 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0007c0028t0001g0044 0/0 2 0 0 2 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0008c0024t0002g0077 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0008c0024t0002g0085 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0009c0022t0008g0076 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0009c0022t0008g0102 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0010c0052t0001g0193 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0011c0045t0001g0268 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0012c0036t0001g0153 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0013c0035t0002g0059 0/0 1 1 0 0 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0014c0034t0002g0084 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0015c0033t0002g0082 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
a0016c0029t0002g0058 0/0 1 0 0 1 0 0 COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0003 t0011 g0242 EUR GBR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00099 hp2 a0001 c0003 t0001 g0236 EUR GBR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00140 hp1 a0001 c0002 t0001 g0005 EUR GBR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00140 hp2 a0001 c0050 t0001 g0214 EUR GBR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00280 hp1 a0002 c0001 t0001 g0121 EUR FIN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00280 hp2 a0006 c0044 t0004 g0215 EUR FIN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00323 hp1 a0001 c0002 t0001 g0174 EUR FIN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00323 hp2 a0003 c0016 t0002 g0081 EUR FIN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00408 hp1 a0003 c0005 t0001 g0127 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00408 hp2 a0004 c0017 t0001 g0173 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00423 hp1 a0002 c0001 t0002 g0001 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00423 hp2 a0001 c0004 t0001 g0012 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00438 hp1 a0001 c0002 t0001 g0002 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00438 hp2 a0002 c0001 t0002 g0004 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00544 hp1 a0004 c0049 t0001 g0261 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00544 hp2 a0002 c0001 t0002 g0001 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00597 hp1 a0001 c0002 t0001 g0171 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00597 hp2 a0002 c0001 t0002 g0001 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00609 hp1 a0002 c0001 t0002 g0083 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00609 hp2 a0001 c0003 t0001 g0006 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00621 hp1 a0001 c0006 t0001 g0003 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00621 hp2 a0004 c0017 t0012 g0177 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00639 hp1 a0005 c0011 t0001 g0008 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00639 hp2 a0001 c0004 t0001 g0046 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00642 hp1 a0001 c0046 t0001 g0132 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00642 hp2 a0001 c0002 t0001 g0002 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00673 hp1 a0001 c0002 t0001 g0055 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00673 hp2 a0002 c0001 t0001 g0122 EAS CHS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00733 hp1 a0002 c0001 t0002 g0001 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00733 hp2 a0005 c0011 t0001 g0008 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00735 hp1 a0005 c0011 t0001 g0008 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00735 hp2 a0002 c0001 t0002 g0069 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00738 hp1 a0001 c0003 t0001 g0239 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00738 hp2 a0001 c0004 t0001 g0012 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00741 hp1 a0001 c0042 t0001 g0186 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG00741 hp2 a0001 c0002 t0001 g0146 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01069 hp1 a0001 c0004 t0001 g0022 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01069 hp2 a0003 c0005 t0002 g0033 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01070 hp1 a0001 c0004 t0001 g0048 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01070 hp2 a0001 c0002 t0001 g0038 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01071 hp1 a0003 c0005 t0002 g0033 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01071 hp2 a0001 c0002 t0001 g0038 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01074 hp1 a0001 c0004 t0001 g0011 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01074 hp2 a0001 c0003 t0001 g0053 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01081 hp1 a0005 c0011 t0001 g0179 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01081 hp2 a0001 c0003 t0001 g0053 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01099 hp1 a0003 c0005 t0002 g0099 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01099 hp2 a0003 c0005 t0002 g0007 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01106 hp1 a0001 c0040 t0001 g0247 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01106 hp2 a0001 c0002 t0001 g0002 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01109 hp1 a0003 c0012 t0002 g0064 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01109 hp2 a0001 c0003 t0001 g0130 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01167 hp1 a0003 c0005 t0002 g0030 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01167 hp2 a0001 c0014 t0001 g0043 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01168 hp1 a0005 c0011 t0001 g0182 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01168 hp2 a0004 c0007 t0001 g0238 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01175 hp1 a0001 c0002 t0001 g0161 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01175 hp2 a0001 c0003 t0001 g0243 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01192 hp1 a0001 c0008 t0001 g0187 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01192 hp2 a0005 c0011 t0001 g0008 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01243 hp1 a0001 c0004 t0001 g0213 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01243 hp2 a0003 c0005 t0002 g0007 AMR PUR COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01255 hp1 a0001 c0002 t0001 g0172 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01255 hp2 a0001 c0002 t0001 g0148 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01257 hp1 a0001 c0004 t0001 g0022 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01257 hp2 a0003 c0005 t0002 g0014 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01258 hp1 a0003 c0005 t0002 g0014 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01258 hp2 a0001 c0004 t0001 g0011 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01261 hp1 a0003 c0005 t0002 g0014 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01261 hp2 a0001 c0003 t0001 g0133 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01346 hp1 a0001 c0003 t0001 g0235 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01346 hp2 a0003 c0009 t0002 g0028 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01361 hp1 a0001 c0004 t0001 g0241 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01361 hp2 a0002 c0001 t0002 g0063 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01433 hp1 a0001 c0002 t0001 g0166 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01433 hp2 a0001 c0002 t0001 g0002 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01496 hp1 a0001 c0003 t0001 g0025 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01496 hp2 a0001 c0002 t0001 g0005 AMR CLM COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01515 hp1 a0001 c0002 t0001 g0005 EUR IBS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01515 hp2 a0001 c0004 t0001 g0052 EUR IBS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01517 hp1 a0001 c0004 t0001 g0048 EUR IBS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01517 hp2 a0001 c0004 t0001 g0052 EUR IBS COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01884 hp1 a0001 c0043 t0001 g0183 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01884 hp2 a0003 c0032 t0001 g0114 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01891 hp1 a0003 c0009 t0002 g0032 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01891 hp2 a0005 c0011 t0001 g0178 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01928 hp1 a0002 c0001 t0002 g0004 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01928 hp2 a0001 c0003 t0001 g0253 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01934 hp1 a0002 c0001 t0002 g0001 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01934 hp2 a0001 c0002 t0001 g0019 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01943 hp1 a0002 c0001 t0002 g0103 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01943 hp2 a0003 c0005 t0002 g0074 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01952 hp1 a0001 c0003 t0001 g0131 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01952 hp2 a0002 c0001 t0002 g0004 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01975 hp1 a0002 c0001 t0002 g0109 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01975 hp2 a0001 c0002 t0001 g0019 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01978 hp1 a0001 c0002 t0001 g0005 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01978 hp2 a0001 c0003 t0001 g0134 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01993 hp1 a0002 c0001 t0002 g0091 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG01993 hp2 a0001 c0002 t0001 g0019 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02004 hp1 a0001 c0003 t0001 g0025 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02004 hp2 a0002 c0001 t0002 g0004 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02015 hp1 a0004 c0017 t0001 g0147 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02015 hp2 a0008 c0024 t0002 g0085 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02040 hp1 a0001 c0006 t0001 g0139 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02040 hp2 a0001 c0002 t0001 g0002 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02055 hp1 a0003 c0009 t0002 g0073 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02055 hp2 a0003 c0005 t0009 g0106 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02071 hp1 a0002 c0001 t0002 g0004 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02071 hp2 a0001 c0002 t0001 g0250 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02074 hp1 a0001 c0006 t0001 g0199 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02074 hp2 a0001 c0002 t0001 g0225 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02080 hp1 a0004 c0017 t0001 g0138 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02080 hp2 a0002 c0001 t0002 g0001 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02083 hp1 a0001 c0002 t0001 g0159 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02083 hp2 a0004 c0010 t0001 g0163 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02129 hp1 a0003 c0013 t0002 g0088 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02129 hp2 a0004 c0015 t0001 g0047 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02132 hp1 a0004 c0015 t0006 g0259 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02132 hp2 a0001 c0002 t0001 g0020 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02135 hp1 a0001 c0004 t0001 g0012 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02135 hp2 a0002 c0001 t0002 g0001 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02145 hp1 a0001 c0047 t0001 g0192 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02145 hp2 a0001 c0014 t0001 g0220 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02155 hp1 a0002 c0001 t0002 g0015 EAS CDX COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02155 hp2 a0001 c0002 t0001 g0168 EAS CDX COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02165 hp1 a0016 c0029 t0002 g0058 EAS CDX COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02165 hp2 a0001 c0002 t0001 g0040 EAS CDX COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02257 hp1 a0003 c0016 t0001 g0116 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02257 hp2 a0001 c0008 t0001 g0009 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02258 hp1 a0001 c0026 t0004 g0232 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02258 hp2 a0003 c0012 t0002 g0071 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02280 hp1 a0001 c0003 t0001 g0010 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02280 hp2 a0003 c0005 t0002 g0110 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02293 hp1 a0002 c0001 t0002 g0092 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02293 hp2 a0002 c0001 t0002 g0001 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02300 hp1 a0001 c0002 t0001 g0002 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02300 hp2 a0002 c0001 t0002 g0001 AMR PEL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02523 hp1 a0002 c0001 t0001 g0117 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02523 hp2 a0001 c0002 t0001 g0180 EAS KHV COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02572 hp1 a0003 c0005 t0002 g0026 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02572 hp2 a0001 c0008 t0001 g0009 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02602 hp1 a0001 c0002 t0001 g0167 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02602 hp2 a0003 c0012 t0002 g0029 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02615 hp1 a0001 c0008 t0001 g0009 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02615 hp2 a0001 c0003 t0001 g0237 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02622 hp1 a0001 c0003 t0001 g0135 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02622 hp2 a0001 c0008 t0001 g0222 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02630 hp1 a0001 c0039 t0001 g0197 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02630 hp2 a0003 c0005 t0002 g0093 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02647 hp1 a0003 c0012 t0002 g0096 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02647 hp2 a0001 c0004 t0001 g0051 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02683 hp1 a0001 c0004 t0001 g0022 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02683 hp2 a0001 c0003 t0001 g0245 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02698 hp1 a0001 c0002 t0001 g0002 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02698 hp2 a0001 c0004 t0001 g0234 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02717 hp1 a0003 c0021 t0002 g0062 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02717 hp2 a0003 c0009 t0002 g0032 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02723 hp1 a0001 c0004 t0001 g0266 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02723 hp2 a0001 c0004 t0001 g0230 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02735 hp1 a0006 c0037 t0004 g0158 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02735 hp2 a0004 c0007 t0001 g0054 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02809 hp1 a0003 c0019 t0001 g0034 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02809 hp2 a0001 c0002 t0001 g0151 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02818 hp1 a0001 c0014 t0001 g0191 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02818 hp2 a0001 c0004 t0001 g0226 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02886 hp1 a0001 c0003 t0001 g0184 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02886 hp2 a0001 c0014 t0001 g0043 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02895 hp1 a0001 c0003 t0001 g0010 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02895 hp2 a0011 c0045 t0001 g0268 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02896 hp1 a0001 c0003 t0001 g0010 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02896 hp2 a0003 c0016 t0001 g0115 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02922 hp1 a0001 c0003 t0003 g0196 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02922 hp2 a0003 c0005 t0002 g0068 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02965 hp1 a0001 c0008 t0001 g0202 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02965 hp2 a0003 c0031 t0002 g0067 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02970 hp1 a0001 c0003 t0003 g0195 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02970 hp2 a0001 c0008 t0001 g0204 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02976 hp1 a0001 c0018 t0003 g0017 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02976 hp2 a0001 c0008 t0001 g0009 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03017 hp1 a0002 c0001 t0001 g0016 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03017 hp2 a0001 c0003 t0001 g0246 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03041 hp1 a0001 c0051 t0001 g0205 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03041 hp2 a0001 c0002 t0003 g0152 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03098 hp1 a0003 c0009 t0002 g0028 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03098 hp2 a0001 c0004 t0001 g0227 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03130 hp1 a0001 c0003 t0001 g0190 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03130 hp2 a0001 c0018 t0003 g0017 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03139 hp1 a0001 c0014 t0001 g0221 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03139 hp2 a0001 c0004 t0001 g0051 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03195 hp1 a0001 c0003 t0001 g0041 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03195 hp2 a0003 c0005 t0002 g0030 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03209 hp1 a0010 c0052 t0001 g0193 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03209 hp2 a0003 c0005 t0002 g0026 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03225 hp1 a0001 c0003 t0003 g0194 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03225 hp2 a0003 c0030 t0002 g0100 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03239 hp1 a0001 c0003 t0001 g0249 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03239 hp2 a0001 c0004 t0001 g0011 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03453 hp1 a0001 c0026 t0004 g0233 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03453 hp2 a0003 c0005 t0002 g0112 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03486 hp1 a0003 c0019 t0001 g0034 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03486 hp2 a0003 c0021 t0002 g0066 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03490 hp1 a0003 c0005 t0002 g0007 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03490 hp2 a0001 c0003 t0001 g0006 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03492 hp1 a0001 c0002 t0001 g0157 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03492 hp2 a0001 c0003 t0001 g0006 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03516 hp1 a0001 c0003 t0001 g0228 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03516 hp2 a0001 c0003 t0007 g0021 AFR ESN COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03540 hp1 a0001 c0003 t0007 g0021 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03540 hp2 a0001 c0003 t0001 g0041 AFR GWD COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03579 hp1 a0003 c0009 t0002 g0104 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03579 hp2 a0001 c0003 t0007 g0021 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03654 hp1 a0001 c0004 t0001 g0011 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03654 hp2 a0003 c0005 t0002 g0060 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03669 hp1 a0002 c0001 t0002 g0086 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03669 hp2 a0001 c0004 t0001 g0046 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03688 hp1 a0001 c0004 t0001 g0257 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03688 hp2 a0003 c0012 t0002 g0029 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03704 hp1 a0001 c0002 t0001 g0039 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03704 hp2 a0001 c0002 t0001 g0018 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03710 hp1 a0001 c0002 t0001 g0165 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03710 hp2 a0001 c0004 t0001 g0223 SAS PJL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03834 hp1 a0001 c0002 t0001 g0002 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03834 hp2 a0002 c0001 t0002 g0080 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03927 hp1 a0001 c0004 t0001 g0255 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03927 hp2 a0004 c0007 t0001 g0054 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03942 hp1 a0001 c0002 t0001 g0039 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03942 hp2 a0001 c0002 t0001 g0018 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04115 hp1 a0004 c0007 t0001 g0248 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04115 hp2 a0001 c0002 t0001 g0169 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04184 hp1 a0002 c0001 t0001 g0016 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04184 hp2 a0001 c0003 t0001 g0136 SAS BEB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04199 hp1 a0001 c0004 t0001 g0200 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04199 hp2 a0001 c0003 t0001 g0006 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04204 hp1 a0004 c0007 t0001 g0217 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04204 hp2 a0001 c0002 t0001 g0170 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04228 hp1 a0001 c0003 t0001 g0240 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG04228 hp2 a0004 c0015 t0001 g0258 SAS STU COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18522 hp1 a0013 c0035 t0002 g0059 AFR YRI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18522 hp2 a0003 c0009 t0002 g0101 AFR YRI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18612 hp1 a0007 c0028 t0001 g0044 EAS CHB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18612 hp2 a0001 c0002 t0001 g0175 EAS CHB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18747 hp1 a0002 c0001 t0002 g0001 EAS CHB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18747 hp2 a0004 c0015 t0001 g0047 EAS CHB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18906 hp1 a0003 c0005 t0002 g0098 AFR YRI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18906 hp2 a0001 c0008 t0001 g0189 AFR YRI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18940 hp1 a0001 c0002 t0001 g0005 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18940 hp2 a0001 c0006 t0001 g0042 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18941 hp1 a0001 c0048 t0001 g0260 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18941 hp2 a0002 c0001 t0005 g0013 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18942 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18942 hp2 a0009 c0022 t0008 g0076 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18943 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18943 hp2 a0001 c0004 t0001 g0252 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18946 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18946 hp2 a0001 c0002 t0001 g0002 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18947 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18947 hp2 a0001 c0004 t0001 g0216 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18948 hp1 a0001 c0002 t0001 g0020 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18948 hp2 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18949 hp1 a0001 c0002 t0001 g0005 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18949 hp2 a0002 c0001 t0002 g0107 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18950 hp1 a0014 c0034 t0002 g0084 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18950 hp2 a0007 c0028 t0001 g0044 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18952 hp1 a0001 c0004 t0001 g0219 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18952 hp2 a0002 c0001 t0005 g0013 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18953 hp1 a0001 c0006 t0006 g0207 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18953 hp2 a0002 c0001 t0002 g0095 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18957 hp1 a0004 c0007 t0001 g0024 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18957 hp2 a0001 c0002 t0001 g0002 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18959 hp1 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18959 hp2 a0001 c0002 t0001 g0020 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18960 hp1 a0002 c0001 t0010 g0090 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18960 hp2 a0001 c0002 t0001 g0002 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18962 hp1 a0004 c0007 t0001 g0024 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18962 hp2 a0001 c0004 t0001 g0210 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18964 hp1 a0008 c0024 t0002 g0077 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18964 hp2 a0001 c0004 t0001 g0049 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18965 hp1 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18965 hp2 a0001 c0002 t0001 g0002 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18966 hp1 a0003 c0013 t0001 g0119 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18966 hp2 a0004 c0010 t0001 g0037 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18967 hp1 a0001 c0002 t0001 g0005 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18967 hp2 a0002 c0001 t0001 g0118 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18968 hp1 a0001 c0006 t0001 g0208 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18968 hp2 a0002 c0001 t0002 g0072 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18971 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18971 hp2 a0001 c0002 t0001 g0055 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18972 hp1 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18972 hp2 a0001 c0002 t0001 g0156 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18978 hp1 a0002 c0001 t0001 g0123 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18978 hp2 a0004 c0007 t0001 g0254 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18979 hp1 a0004 c0010 t0001 g0160 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18979 hp2 a0002 c0001 t0002 g0105 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18980 hp1 a0001 c0002 t0001 g0149 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18980 hp2 a0001 c0003 t0001 g0209 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18981 hp1 a0003 c0020 t0002 g0079 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18981 hp2 a0003 c0009 t0001 g0120 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18983 hp1 a0003 c0009 t0001 g0036 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18983 hp2 a0001 c0002 t0001 g0040 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18984 hp1 a0004 c0007 t0001 g0211 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18984 hp2 a0002 c0001 t0002 g0111 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18985 hp1 a0001 c0004 t0001 g0218 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18985 hp2 a0001 c0002 t0001 g0141 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18986 hp1 a0002 c0001 t0002 g0108 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18986 hp2 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18987 hp1 a0002 c0025 t0002 g0031 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18987 hp2 a0001 c0004 t0001 g0137 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18988 hp1 a0004 c0007 t0001 g0144 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18988 hp2 a0001 c0002 t0001 g0142 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18992 hp1 a0015 c0033 t0002 g0082 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18992 hp2 a0012 c0036 t0001 g0153 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18994 hp1 a0002 c0001 t0002 g0089 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18994 hp2 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18997 hp1 a0003 c0013 t0001 g0035 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18997 hp2 a0002 c0001 t0002 g0075 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18998 hp1 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18998 hp2 a0002 c0001 t0002 g0004 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18999 hp1 a0001 c0004 t0001 g0023 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18999 hp2 a0002 c0001 t0002 g0004 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19001 hp1 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19001 hp2 a0004 c0007 t0001 g0140 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19003 hp1 a0001 c0004 t0001 g0023 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19003 hp2 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19004 hp1 a0001 c0003 t0001 g0025 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19004 hp2 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19005 hp1 a0002 c0001 t0002 g0015 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19005 hp2 a0003 c0013 t0001 g0126 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19007 hp1 a0003 c0016 t0002 g0094 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19007 hp2 a0004 c0010 t0001 g0037 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19009 hp1 a0003 c0013 t0001 g0125 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19009 hp2 a0003 c0020 t0001 g0128 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19010 hp1 a0004 c0010 t0001 g0050 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19010 hp2 a0002 c0001 t0002 g0097 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19011 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19011 hp2 a0003 c0013 t0001 g0035 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19012 hp1 a0001 c0006 t0001 g0045 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19012 hp2 a0002 c0001 t0002 g0004 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19030 hp1 a0001 c0002 t0001 g0150 AFR LWK COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19030 hp2 a0003 c0023 t0002 g0027 AFR LWK COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19043 hp1 a0001 c0027 t0001 g0185 AFR LWK COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19043 hp2 a0003 c0023 t0002 g0027 AFR LWK COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19054 hp1 a0001 c0004 t0001 g0012 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19054 hp2 a0002 c0001 t0002 g0004 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19055 hp1 a0004 c0010 t0001 g0050 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19055 hp2 a0002 c0001 t0002 g0004 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19056 hp1 a0004 c0007 t0001 g0024 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19056 hp2 a0001 c0002 t0001 g0181 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19057 hp1 a0001 c0004 t0001 g0023 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19057 hp2 a0009 c0022 t0008 g0102 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19058 hp1 a0001 c0006 t0001 g0206 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19058 hp2 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19059 hp1 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19059 hp2 a0001 c0038 t0001 g0143 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19060 hp1 a0003 c0020 t0001 g0129 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19060 hp2 a0001 c0003 t0001 g0263 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19063 hp1 a0002 c0001 t0002 g0015 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19063 hp2 a0004 c0015 t0006 g0265 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19065 hp1 a0001 c0002 t0001 g0155 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19065 hp2 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19066 hp1 a0001 c0006 t0001 g0042 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19066 hp2 a0001 c0002 t0001 g0162 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19068 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19068 hp2 a0001 c0002 t0001 g0176 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19070 hp1 a0002 c0025 t0002 g0031 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19070 hp2 a0001 c0004 t0001 g0256 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19077 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19077 hp2 a0001 c0004 t0001 g0057 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19079 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19079 hp2 a0004 c0007 t0001 g0264 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19080 hp1 a0001 c0002 t0001 g0002 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19080 hp2 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19081 hp1 a0001 c0004 t0001 g0056 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19081 hp2 a0001 c0002 t0001 g0002 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19083 hp1 a0004 c0010 t0001 g0224 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19083 hp2 a0001 c0003 t0001 g0267 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19084 hp1 a0001 c0002 t0001 g0154 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19084 hp2 a0001 c0004 t0001 g0049 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19085 hp1 a0001 c0003 t0001 g0262 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19085 hp2 a0002 c0001 t0002 g0078 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19086 hp1 a0003 c0009 t0001 g0036 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19086 hp2 a0002 c0001 t0005 g0013 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19087 hp1 a0001 c0006 t0001 g0003 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19087 hp2 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19090 hp1 a0001 c0006 t0001 g0045 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19090 hp2 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19091 hp1 a0002 c0001 t0002 g0001 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19091 hp2 a0001 c0004 t0001 g0057 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19240 hp1 a0003 c0019 t0001 g0113 AFR YRI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA19240 hp2 a0001 c0008 t0001 g0201 AFR YRI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20129 hp1 a0001 c0003 t0001 g0188 AFR ASW COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20129 hp2 a0001 c0003 t0001 g0203 AFR ASW COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20752 hp1 a0001 c0002 t0001 g0164 EUR TSI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20752 hp2 a0002 c0001 t0001 g0124 EUR TSI COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20905 hp1 a0001 c0002 t0001 g0018 SAS GIH COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20905 hp2 a0001 c0004 t0001 g0251 SAS GIH COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02109 hp1 a0001 c0003 t0001 g0006 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02109 hp2 a0003 c0012 t0002 g0070 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02486 hp1 a0001 c0018 t0003 g0017 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02486 hp2 a0001 c0003 t0001 g0244 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02559 hp1 a0001 c0027 t0001 g0229 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG02559 hp2 a0003 c0005 t0002 g0087 AFR ACB COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03471 hp1 a0001 c0018 t0003 g0145 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG03471 hp2 a0001 c0008 t0001 g0198 AFR MSL COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG06807 hp1 a0003 c0005 t0009 g0061 AFR USA COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
HG06807 hp2 a0001 c0003 t0001 g0231 AFR USA COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18955 hp1 a0001 c0004 t0001 g0056 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA18955 hp2 a0002 c0001 t0002 g0004 EAS JPT COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20300 hp1 a0001 c0041 t0001 g0212 AFR USA COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA20300 hp2 a0001 c0002 t0001 g0002 AFR USA COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA21309 hp1 a0001 c0003 t0001 g0010 AFR LWK COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
NA21309 hp2 a0003 c0005 t0002 g0065 AFR LWK COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
homoSapiens_chm13v2 hp1 a0002 c0001 t0001 g0016 REF REF COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476
homoSapiens_grch38 hp1 a0003 c0005 t0002 g0007 REF REF COL2A1_chr12_47967967_48009476 COL2A1 chr12 47967967 48009476

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
chr12:47973544 C
C
 T
T
 2 a0010
a0013
a0010
a0013
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 missense_variant MODERATE c.4327G>A
c.4327G>A
 p.Gly1443Ser
p.Gly1443Ser
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 4482/5059 4327/4464 1443/1487 chr12 47973544
chr12:47974193 C
C
 T
T
 6 a0002
a0004
a0008
others(3): Show 
a0002
a0004
a0008
a0014
a0015
a0016
 109 HG00280.hp1
HG00408.hp2
HG00423.hp1
others(106): Show 
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01168.hp2
HG01361.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02735.hp2
HG03017.hp1
HG03669.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18971.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18988.hp1
NA18992.hp1
NA18994.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.4213G>A
c.4213G>A
 p.Gly1405Ser
p.Gly1405Ser
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/54 4368/5059 4213/4464 1405/1487 chr12 47974193
chr12:47974758 C
C
 T
T
 2 a0006
a0009
a0006
a0009
 4 HG00280.hp2
HG02735.hp1
NA18942.hp2
others(1): Show 
HG00280.hp2
HG02735.hp1
NA18942.hp2
NA19057.hp2
 missense_variant MODERATE c.3991G>A
c.3991G>A
 p.Val1331Ile
p.Val1331Ile
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/54 4146/5059 3991/4464 1331/1487 chr12 47974758
chr12:47977388 C
C
 T
T
 1 a0014
a0014
 1 NA18950.hp1
NA18950.hp1
 missense_variant MODERATE c.3205G>A
c.3205G>A
 p.Ala1069Thr
p.Ala1069Thr
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 46/54 3360/5059 3205/4464 1069/1487 chr12 47977388
chr12:47977614 C
C
 T
T
 1 a0011
a0011
 1 HG02895.hp2
HG02895.hp2
 missense_variant MODERATE c.3151G>A
c.3151G>A
 p.Ala1051Thr
p.Ala1051Thr
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 45/54 3306/5059 3151/4464 1051/1487 chr12 47977614
chr12:47978636 GGGTCCAG
others(5): Show 
GGGTCCAGCAGGA
 G
G
 1 a0015
a0015
 1 NA18992.hp1
NA18992.hp1
 disruptive_inframe_deletion MODERATE c.2844_2855delTCCTGC
others(6): Show 
c.2844_2855delTCCTGCTGGACC
 p.Pro949_Pro952del
p.Pro949_Pro952del
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 42/54 3010/5059 2844/4464 948/1487 chr12 47978636
chr12:47978638 G
G
 T
T
 1 a0007
a0007
 2 NA18612.hp1
NA18950.hp2
NA18612.hp1
NA18950.hp2
 missense_variant MODERATE c.2854C>A
c.2854C>A
 p.Pro952Thr
p.Pro952Thr
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 42/54 3009/5059 2854/4464 952/1487 chr12 47978638
chr12:47984115 G
G
 A
A
 2 a0008
a0014
a0008
a0014
 3 HG02015.hp2
NA18950.hp1
NA18964.hp1
HG02015.hp2
NA18950.hp1
NA18964.hp1
 missense_variant MODERATE c.1913C>T
c.1913C>T
 p.Thr638Ile
p.Thr638Ile
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 29/54 2068/5059 1913/4464 638/1487 chr12 47984115
chr12:47986430 G
G
 A
A
 2 a0010
a0013
a0010
a0013
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 missense_variant MODERATE c.1433C>T
c.1433C>T
 p.Pro478Leu
p.Pro478Leu
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/54 1588/5059 1433/4464 478/1487 chr12 47986430
chr12:47993828 G
G
 C
C
 1 a0012
a0012
 1 NA18992.hp2
NA18992.hp2
 missense_variant MODERATE c.905C>G
c.905C>G
 p.Ala302Gly
p.Ala302Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 14/54 1060/5059 905/4464 302/1487 chr12 47993828
chr12:47993829 C
C
 G
G
 1 a0012
a0012
 1 NA18992.hp2
NA18992.hp2
 missense_variant MODERATE c.904G>C
c.904G>C
 p.Ala302Pro
p.Ala302Pro
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 14/54 1059/5059 904/4464 302/1487 chr12 47993829
chr12:47997874 T
T
 A
A
 1 a0005
a0005
 7 HG00639.hp1
HG00733.hp2
HG00735.hp1
others(4): Show 
HG00639.hp1
HG00733.hp2
HG00735.hp1
HG01081.hp1
HG01168.hp1
HG01192.hp2
HG01891.hp2
 missense_variant MODERATE c.426A>T
c.426A>T
 p.Glu142Asp
p.Glu142Asp
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 6/54 581/5059 426/4464 142/1487 chr12 47997874
chr12:48004297 T
T
 A
A
 8 a0001
a0004
a0005
others(5): Show 
a0001
a0004
a0005
a0006
a0007
a0010
a0011
a0012
 267 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(264): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 missense_variant MODERATE c.25A>T
c.25A>T
 p.Thr9Ser
p.Thr9Ser
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/54 180/5059 25/4464 9/1487 chr12 48004297
chr12:48004305 G
G
 T
T
 1 a0016
a0016
 1 HG02165.hp1
HG02165.hp1
 missense_variant MODERATE c.17C>A
c.17C>A
 p.Ala6Asp
p.Ala6Asp
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/54 172/5059 17/4464 6/1487 chr12 48004305

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
chr12:47973422 C
C
 T
T
 1 a0001c0026
a0001c0026
 2 HG02258.hp1
HG03453.hp1
HG02258.hp1
HG03453.hp1
 synonymous_variant LOW c.4449G>A
c.4449G>A
 p.Pro1483Pro
p.Pro1483Pro
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 4604/5059 4449/4464 1483/1487 chr12 47973422
chr12:47974681 G
G
 A
A
 5 a0001c0008
a0001c0047
a0001c0051
others(2): Show 
a0001c0008
a0001c0047
a0001c0051
a0003c0012
a0003c0030
 20 HG01109.hp1
HG01192.hp1
HG02109.hp2
others(17): Show 
HG01109.hp1
HG01192.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03225.hp2
HG03471.hp2
HG03688.hp2
NA18906.hp2
NA19240.hp2
 synonymous_variant LOW c.4068C>T
c.4068C>T
 p.Gly1356Gly
p.Gly1356Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/54 4223/5059 4068/4464 1356/1487 chr12 47974681
chr12:47974708 G
G
 T
T
 1 a0001c0046
a0001c0046
 1 HG00642.hp1
HG00642.hp1
 synonymous_variant LOW c.4041C>A
c.4041C>A
 p.Ile1347Ile
p.Ile1347Ile
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/54 4196/5059 4041/4464 1347/1487 chr12 47974708
chr12:47975333 G
G
 A
A
 1 a0003c0032
a0003c0032
 1 HG01884.hp2
HG01884.hp2
 synonymous_variant LOW c.3870C>T
c.3870C>T
 p.His1290His
p.His1290His
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/54 4025/5059 3870/4464 1290/1487 chr12 47975333
chr12:47975540 G
G
 A
A
 1 a0001c0048
a0001c0048
 1 NA18941.hp1
NA18941.hp1
 synonymous_variant LOW c.3663C>T
c.3663C>T
 p.Ser1221Ser
p.Ser1221Ser
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/54 3818/5059 3663/4464 1221/1487 chr12 47975540
chr12:47978019 A
A
 G
G
 2 a0010c0052
a0013c0035
a0010c0052
a0013c0035
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 synonymous_variant LOW c.3102T>C
c.3102T>C
 p.Pro1034Pro
p.Pro1034Pro
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 44/54 3257/5059 3102/4464 1034/1487 chr12 47978019
chr12:47978294 C
C
 T
T
 6 a0001c0014
a0003c0019
a0003c0021
others(3): Show 
a0001c0014
a0003c0019
a0003c0021
a0003c0032
a0010c0052
a0013c0035
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 synonymous_variant LOW c.3000G>A
c.3000G>A
 p.Pro1000Pro
p.Pro1000Pro
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 43/54 3155/5059 3000/4464 1000/1487 chr12 47978294
chr12:47980015 G
G
 C
C
 4 a0001c0006
a0001c0038
a0003c0020
others(1): Show 
a0001c0006
a0001c0038
a0003c0020
a0007c0028
 27 HG00621.hp1
HG02040.hp1
HG02074.hp1
others(24): Show 
HG00621.hp1
HG02040.hp1
HG02074.hp1
NA18612.hp1
NA18940.hp2
NA18950.hp2
NA18953.hp1
NA18959.hp1
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18981.hp1
NA18986.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19065.hp2
NA19066.hp1
NA19087.hp1
NA19090.hp1
 synonymous_variant LOW c.2673C>G
c.2673C>G
 p.Gly891Gly
p.Gly891Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/54 2828/5059 2673/4464 891/1487 chr12 47980015
chr12:47980948 C
C
 G
G
 5 a0003c0019
a0003c0032
a0010c0052
others(2): Show 
a0003c0019
a0003c0032
a0010c0052
a0011c0045
a0013c0035
 7 HG01884.hp2
HG02809.hp1
HG02895.hp2
others(4): Show 
HG01884.hp2
HG02809.hp1
HG02895.hp2
HG03209.hp1
HG03486.hp1
NA18522.hp1
NA19240.hp1
 synonymous_variant LOW c.2484G>C
c.2484G>C
 p.Gly828Gly
p.Gly828Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 38/54 2639/5059 2484/4464 828/1487 chr12 47980948
chr12:47981785 A
A
 G
G
 30 a0001c0002
a0001c0004
a0001c0006
others(27): Show 
a0001c0002
a0001c0004
a0001c0006
a0001c0008
a0001c0026
a0001c0027
a0001c0038
a0001c0040
a0001c0041
a0001c0042
a0001c0043
a0001c0048
a0001c0051
a0003c0009
a0003c0013
a0003c0016
a0003c0019
a0003c0020
a0003c0030
a0003c0031
a0004c0010
a0004c0015
a0005c0011
a0006c0037
a0006c0044
a0007c0028
a0009c0022
a0010c0052
a0012c0036
a0013c0035
 216 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(213): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 synonymous_variant LOW c.2400T>C
c.2400T>C
 p.Asn800Asn
p.Asn800Asn
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 36/54 2555/5059 2400/4464 800/1487 chr12 47981785
chr12:47982508 G
G
 A
A
 22 a0001c0002
a0001c0004
a0001c0006
others(19): Show 
a0001c0002
a0001c0004
a0001c0006
a0001c0008
a0001c0038
a0001c0040
a0001c0041
a0001c0048
a0001c0050
a0001c0051
a0003c0009
a0003c0013
a0003c0020
a0003c0030
a0004c0010
a0004c0015
a0004c0049
a0005c0011
a0006c0037
a0007c0028
a0009c0022
a0012c0036
 201 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02300.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 synonymous_variant LOW c.2295C>T
c.2295C>T
 p.Gly765Gly
p.Gly765Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 34/54 2450/5059 2295/4464 765/1487 chr12 47982508
chr12:47982881 G
G
 T
T
 3 a0001c0026
a0001c0043
a0003c0031
a0001c0026
a0001c0043
a0003c0031
 4 HG01884.hp1
HG02258.hp1
HG02965.hp2
others(1): Show 
HG01884.hp1
HG02258.hp1
HG02965.hp2
HG03453.hp1
 synonymous_variant LOW c.2160C>A
c.2160C>A
 p.Gly720Gly
p.Gly720Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/54 2315/5059 2160/4464 720/1487 chr12 47982881
chr12:47982911 G
G
 A
A
 2 a0001c0051
a0003c0023
a0001c0051
a0003c0023
 3 HG03041.hp1
NA19030.hp2
NA19043.hp2
HG03041.hp1
NA19030.hp2
NA19043.hp2
 synonymous_variant LOW c.2130C>T
c.2130C>T
 p.Pro710Pro
p.Pro710Pro
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/54 2285/5059 2130/4464 710/1487 chr12 47982911
chr12:47984597 A
A
 G
G
 1 a0001c0042
a0001c0042
 1 HG00741.hp1
HG00741.hp1
 splice_region_variant&synonymous_variant LOW c.1836T>C
c.1836T>C
 p.Gly612Gly
p.Gly612Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 28/54 1991/5059 1836/4464 612/1487 chr12 47984597
chr12:47985948 G
G
 T
T
 1 a0001c0041
a0001c0041
 1 NA20300.hp1
NA20300.hp1
 synonymous_variant LOW c.1545C>A
c.1545C>A
 p.Arg515Arg
p.Arg515Arg
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 24/54 1700/5059 1545/4464 515/1487 chr12 47985948
chr12:47987156 A
A
 G
G
 1 a0001c0040
a0001c0040
 1 HG01106.hp1
HG01106.hp1
 synonymous_variant LOW c.1287T>C
c.1287T>C
 p.Gly429Gly
p.Gly429Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 21/54 1442/5059 1287/4464 429/1487 chr12 47987156
chr12:47989761 C
C
 T
T
 1 a0001c0039
a0001c0039
 1 HG02630.hp1
HG02630.hp1
 splice_region_variant&synonymous_variant LOW c.1068G>A
c.1068G>A
 p.Pro356Pro
p.Pro356Pro
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 17/54 1223/5059 1068/4464 356/1487 chr12 47989761
chr12:47997633 G
G
 T
T
 10 a0001c0002
a0001c0018
a0001c0038
others(7): Show 
a0001c0002
a0001c0018
a0001c0038
a0003c0009
a0003c0030
a0004c0010
a0004c0017
a0005c0011
a0006c0037
a0012c0036
 106 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(103): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 synonymous_variant LOW c.504C>A
c.504C>A
 p.Gly168Gly
p.Gly168Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/54 659/5059 504/4464 168/1487 chr12 47997633
chr12:47998199 T
T
 C
C
 1 a0002c0025
a0002c0025
 2 NA18987.hp1
NA19070.hp1
NA18987.hp1
NA19070.hp1
 splice_region_variant&synonymous_variant LOW c.312A>G
c.312A>G
 p.Gly104Gly
p.Gly104Gly
 COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 4/54 467/5059 312/4464 104/1487 chr12 47998199

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
chr12:47973102 C
C
 T
T
 1 a0001c0003t0011
a0001c0003t0011
 1 HG00099.hp1
HG00099.hp1
 3_prime_UTR_variant MODIFIER c.*305G>A
c.*305G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 305 chr12 47973102
chr12:47973112 G
G
 A
A
 3 a0001c0002t0003
a0001c0003t0003
a0001c0018t0003
a0001c0002t0003
a0001c0003t0003
a0001c0018t0003
 8 HG02486.hp1
HG02922.hp1
HG02970.hp1
others(5): Show 
HG02486.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*295C>T
c.*295C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 295 chr12 47973112
chr12:47973172 G
G
 A
A
 1 a0004c0017t0012
a0004c0017t0012
 1 HG00621.hp2
HG00621.hp2
 3_prime_UTR_variant MODIFIER c.*235C>T
c.*235C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 235 chr12 47973172
chr12:47973267 G
G
 T
T
 1 a0002c0001t0010
a0002c0001t0010
 1 NA18960.hp1
NA18960.hp1
 3_prime_UTR_variant MODIFIER c.*140C>A
c.*140C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 140 chr12 47973267
chr12:47973271 G
G
 A
A
 4 a0001c0026t0004
a0006c0037t0004
a0006c0044t0004
others(1): Show 
a0001c0026t0004
a0006c0037t0004
a0006c0044t0004
a0009c0022t0008
 6 HG00280.hp2
HG02258.hp1
HG02735.hp1
others(3): Show 
HG00280.hp2
HG02258.hp1
HG02735.hp1
HG03453.hp1
NA18942.hp2
NA19057.hp2
 3_prime_UTR_variant MODIFIER c.*136C>T
c.*136C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 136 chr12 47973271
chr12:47973379 G
G
 A
A
 3 a0001c0006t0006
a0002c0001t0005
a0004c0015t0006
a0001c0006t0006
a0002c0001t0005
a0004c0015t0006
 6 HG02132.hp1
NA18941.hp2
NA18952.hp2
others(3): Show 
HG02132.hp1
NA18941.hp2
NA18952.hp2
NA18953.hp1
NA19063.hp2
NA19086.hp2
 3_prime_UTR_variant MODIFIER c.*28C>T
c.*28C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 28 chr12 47973379
chr12:47973403 G
G
 A
A
 2 a0001c0003t0007
a0003c0005t0009
a0001c0003t0007
a0003c0005t0009
 5 HG02055.hp2
HG03516.hp2
HG03540.hp1
others(2): Show 
HG02055.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*4C>T
c.*4C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 54/54 4 chr12 47973403
chr12:48004440 G
G
 A
A
 47 a0001c0002t0001
a0001c0002t0003
a0001c0003t0001
others(44): Show 
a0001c0002t0001
a0001c0002t0003
a0001c0003t0001
a0001c0003t0003
a0001c0003t0007
a0001c0003t0011
a0001c0004t0001
a0001c0006t0001
a0001c0006t0006
a0001c0008t0001
a0001c0014t0001
a0001c0018t0003
a0001c0026t0004
a0001c0027t0001
a0001c0038t0001
a0001c0039t0001
a0001c0040t0001
a0001c0041t0001
a0001c0042t0001
a0001c0043t0001
a0001c0046t0001
a0001c0047t0001
a0001c0048t0001
a0001c0050t0001
a0001c0051t0001
a0002c0001t0001
a0003c0005t0001
a0003c0009t0001
a0003c0013t0001
a0003c0016t0001
a0003c0019t0001
a0003c0020t0001
a0003c0032t0001
a0004c0007t0001
a0004c0010t0001
a0004c0015t0001
a0004c0015t0006
a0004c0017t0001
a0004c0017t0012
a0004c0049t0001
a0005c0011t0001
a0006c0037t0004
a0006c0044t0004
a0007c0028t0001
a0010c0052t0001
a0011c0045t0001
a0012c0036t0001
 293 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(290): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 5_prime_UTR_variant MODIFIER c.-119C>T
c.-119C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/54 119 chr12 48004440

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
chr12:47973570 G
G
 A
A
 1 a0001c0047t0001g0192
a0001c0047t0001g0192
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.4318-17C>T
c.4318-17C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/53 chr12 47973570
chr12:47973588 A
A
 G
G
 1 a0011c0045t0001g0268
a0011c0045t0001g0268
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.4318-35T>C
c.4318-35T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/53 chr12 47973588
chr12:47973644 G
G
 A
A
 15 a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0003g0152
others(12): Show 
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0003g0152
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
 19 HG01346.hp2
HG01891.hp1
HG02055.hp1
others(16): Show 
HG01346.hp2
HG01891.hp1
HG02055.hp1
HG02258.hp1
HG02486.hp1
HG02717.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03579.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.4318-91C>T
c.4318-91C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/53 chr12 47973644
chr12:47973682 GC
GC
 G
G
 4 a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
others(1): Show 
a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
a0009c0022t0008g0102
 4 HG00280.hp2
HG02735.hp1
NA18942.hp2
others(1): Show 
HG00280.hp2
HG02735.hp1
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.4318-130delG
c.4318-130delG
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/53 chr12 47973682
chr12:47973774 C
C
 G
G
 2 a0010c0052t0001g0193
a0013c0035t0002g0059
a0010c0052t0001g0193
a0013c0035t0002g0059
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.4318-221G>C
c.4318-221G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/53 chr12 47973774
chr12:47974046 G
G
 A
A
 63 a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0039
others(60): Show 
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0157
a0001c0002t0001g0164
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0174
a0001c0002t0001g0176
a0001c0002t0003g0152
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0263
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0052
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0016t0002g0094
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0007c0028t0001g0044
 99 HG00323.hp1
HG00621.hp1
HG00639.hp2
others(96): Show 
HG00323.hp1
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01934.hp2
HG01975.hp2
HG01993.hp2
HG02055.hp1
HG02155.hp2
HG02165.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02717.hp2
HG02809.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
NA18522.hp2
NA18612.hp1
NA18940.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18966.hp1
NA18968.hp1
NA18972.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19030.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA20300.hp1
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.4317+43C>T
c.4317+43C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/53 chr12 47974046
chr12:47974054 C
C
 G
G
 1 a0003c0032t0001g0114
a0003c0032t0001g0114
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.4317+35G>C
c.4317+35G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 53/53 chr12 47974054
chr12:47974345 G
G
 C
C
 4 a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
others(1): Show 
a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
a0009c0022t0008g0102
 4 HG00280.hp2
HG02735.hp1
NA18942.hp2
others(1): Show 
HG00280.hp2
HG02735.hp1
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.4075-14C>G
c.4075-14C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/53 chr12 47974345
chr12:47974388 G
G
 T
T
 3 a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 3 HG01884.hp2
HG03209.hp1
NA18522.hp1
HG01884.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.4075-57C>A
c.4075-57C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/53 chr12 47974388
chr12:47974479 G
G
 A
A
 2 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0019t0001g0034
a0003c0019t0001g0113
 3 HG02809.hp1
HG03486.hp1
NA19240.hp1
HG02809.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.4075-148C>T
c.4075-148C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/53 chr12 47974479
chr12:47974513 C
C
 T
T
 4 a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
others(1): Show 
a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
a0009c0022t0008g0102
 4 HG00280.hp2
HG02735.hp1
NA18942.hp2
others(1): Show 
HG00280.hp2
HG02735.hp1
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.4074+162G>A
c.4074+162G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/53 chr12 47974513
chr12:47974559 C
C
 T
T
 1 a0001c0038t0001g0143
a0001c0038t0001g0143
 1 NA19059.hp2
NA19059.hp2
 intron_variant MODIFIER c.4074+116G>A
c.4074+116G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/53 chr12 47974559
chr12:47974623 AAG
AAG
 A
A
 4 a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
others(1): Show 
a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
a0009c0022t0008g0102
 4 HG00280.hp2
HG02735.hp1
NA18942.hp2
others(1): Show 
HG00280.hp2
HG02735.hp1
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.4074+50_4074+51del
others(2): Show 
c.4074+50_4074+51delCT
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 52/53 chr12 47974623
chr12:47975097 G
G
 T
T
 2 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0026t0004g0232
a0001c0026t0004g0233
 2 HG02258.hp1
HG03453.hp1
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.3886+220C>A
c.3886+220C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/53 chr12 47975097
chr12:47975104 G
G
 A
A
 3 a0001c0003t0007g0021
a0003c0005t0009g0061
a0003c0005t0009g0106
a0001c0003t0007g0021
a0003c0005t0009g0061
a0003c0005t0009g0106
 5 HG02055.hp2
HG03516.hp2
HG03540.hp1
others(2): Show 
HG02055.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.3886+213C>T
c.3886+213C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/53 chr12 47975104
chr12:47975110 C
C
 T
T
 61 a0002c0001t0001g0016
a0002c0001t0001g0117
a0002c0001t0001g0118
others(58): Show 
a0002c0001t0001g0016
a0002c0001t0001g0117
a0002c0001t0001g0118
a0002c0001t0001g0121
a0002c0001t0001g0122
a0002c0001t0001g0123
a0002c0001t0001g0124
a0002c0001t0002g0001
a0002c0001t0002g0004
a0002c0001t0002g0015
a0002c0001t0002g0063
a0002c0001t0002g0069
a0002c0001t0002g0072
a0002c0001t0002g0075
a0002c0001t0002g0078
a0002c0001t0002g0080
a0002c0001t0002g0083
a0002c0001t0002g0086
a0002c0001t0002g0089
a0002c0001t0002g0091
a0002c0001t0002g0092
a0002c0001t0002g0095
a0002c0001t0002g0097
a0002c0001t0002g0103
a0002c0001t0002g0105
a0002c0001t0002g0107
a0002c0001t0002g0108
a0002c0001t0002g0109
a0002c0001t0002g0111
a0002c0001t0005g0013
a0002c0001t0010g0090
a0002c0025t0002g0031
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0008c0024t0002g0077
a0008c0024t0002g0085
a0014c0034t0002g0084
a0015c0033t0002g0082
a0016c0029t0002g0058
 109 HG00280.hp1
HG00408.hp2
HG00423.hp1
others(106): Show 
HG00280.hp1
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG01168.hp2
HG01361.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02523.hp1
HG02735.hp2
HG03017.hp1
HG03669.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp1
NA18964.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18971.hp1
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18988.hp1
NA18992.hp1
NA18994.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19007.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19068.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19083.hp1
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.3886+207G>A
c.3886+207G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/53 chr12 47975110
chr12:47975206 A
A
 C
C
 58 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0020
others(55): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0020
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0159
a0001c0002t0001g0162
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0171
a0001c0002t0001g0175
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0003t0001g0235
a0001c0004t0001g0012
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0218
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0048t0001g0260
a0003c0013t0002g0088
a0003c0016t0002g0081
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0010c0052t0001g0193
a0012c0036t0001g0153
a0013c0035t0002g0059
 92 HG00140.hp1
HG00323.hp2
HG00423.hp2
others(89): Show 
HG00140.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG01081.hp1
HG01106.hp2
HG01167.hp2
HG01168.hp1
HG01192.hp2
HG01255.hp2
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG01978.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02258.hp1
HG02300.hp1
HG02523.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03688.hp1
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG04199.hp1
NA18522.hp1
NA18612.hp2
NA18940.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18980.hp1
NA18985.hp1
NA18985.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA19012.hp1
NA19054.hp1
NA19056.hp2
NA19065.hp1
NA19066.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20905.hp2
 intron_variant MODIFIER c.3886+111T>G
c.3886+111T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/53 chr12 47975206
chr12:47975212 A
A
 G
G
 1 a0001c0027t0001g0229
a0001c0027t0001g0229
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3886+105T>C
c.3886+105T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/53 chr12 47975212
chr12:47975242 T
T
 G
G
 4 a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
others(1): Show 
a0006c0037t0004g0158
a0006c0044t0004g0215
a0009c0022t0008g0076
a0009c0022t0008g0102
 4 HG00280.hp2
HG02735.hp1
NA18942.hp2
others(1): Show 
HG00280.hp2
HG02735.hp1
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.3886+75A>C
c.3886+75A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 51/53 chr12 47975242
chr12:47975624 A
A
 C
C
 2 a0010c0052t0001g0193
a0013c0035t0002g0059
a0010c0052t0001g0193
a0013c0035t0002g0059
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.3598-19T>G
c.3598-19T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 50/53 chr12 47975624
chr12:47975719 C
C
 T
T
 1 a0003c0019t0001g0113
a0003c0019t0001g0113
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.3598-114G>A
c.3598-114G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 50/53 chr12 47975719
chr12:47975774 T
T
 G
G
 1 a0001c0002t0001g0159
a0001c0002t0001g0159
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.3598-169A>C
c.3598-169A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 50/53 chr12 47975774
chr12:47975801 C
C
 T
T
 3 a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 3 HG01884.hp2
HG03209.hp1
NA18522.hp1
HG01884.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.3597+162G>A
c.3597+162G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 50/53 chr12 47975801
chr12:47975831 A
A
 G
G
 1 a0003c0013t0001g0035
a0003c0013t0001g0035
 2 NA18997.hp1
NA19011.hp2
NA18997.hp1
NA19011.hp2
 intron_variant MODIFIER c.3597+132T>C
c.3597+132T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 50/53 chr12 47975831
chr12:47975865 C
C
 T
T
 1 a0001c0026t0004g0232
a0001c0026t0004g0232
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.3597+98G>A
c.3597+98G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 50/53 chr12 47975865
chr12:47975901 G
G
 A
A
 11 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(8): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3597+62C>T
c.3597+62C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 50/53 chr12 47975901
chr12:47976089 G
G
 T
T
 1 a0001c0004t0001g0213
a0001c0004t0001g0213
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.3490-19C>A
c.3490-19C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 49/53 chr12 47976089
chr12:47976136 C
C
 T
T
 1 a0001c0027t0001g0229
a0001c0027t0001g0229
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.3490-66G>A
c.3490-66G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 49/53 chr12 47976136
chr12:47976140 G
G
 A
A
 16 a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
others(13): Show 
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0047t0001g0192
a0001c0051t0001g0205
a0003c0012t0002g0029
a0003c0012t0002g0064
a0003c0012t0002g0070
a0003c0012t0002g0071
a0003c0012t0002g0096
a0003c0030t0002g0100
 20 HG01109.hp1
HG01192.hp1
HG02109.hp2
others(17): Show 
HG01109.hp1
HG01192.hp1
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03225.hp2
HG03471.hp2
HG03688.hp2
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.3490-70C>T
c.3490-70C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 49/53 chr12 47976140
chr12:47976222 T
T
 A
A
 11 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(8): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3490-152A>T
c.3490-152A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 49/53 chr12 47976222
chr12:47976272 C
C
 T
T
 1 a0002c0001t0002g0107
a0002c0001t0002g0107
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.3490-202G>A
c.3490-202G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 49/53 chr12 47976272
chr12:47976292 T
T
 TTCCCAGG
others(2): Show 
TTCCCAGGGG
 11 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(8): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3489+221_3489+222i
others(11): Show 
c.3489+221_3489+222insCCCCTGGGA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 49/53 chr12 47976292
chr12:47976597 G
G
 A
A
 1 a0001c0002t0001g0170
a0001c0002t0001g0170
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.3436-30C>T
c.3436-30C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 48/53 chr12 47976597
chr12:47976640 A
A
 G
G
 11 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(8): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3436-73T>C
c.3436-73T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 48/53 chr12 47976640
chr12:47976794 G
G
 A
A
 1 a0001c0004t0001g0219
a0001c0004t0001g0219
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.3435+18C>T
c.3435+18C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 48/53 chr12 47976794
chr12:47976939 C
C
 A
A
 11 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(8): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3328-20G>T
c.3328-20G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 47/53 chr12 47976939
chr12:47977008 A
A
 C
C
 11 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(8): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3328-89T>G
c.3328-89T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 47/53 chr12 47977008
chr12:47977021 G
G
 A
A
 1 a0002c0001t0002g0069
a0002c0001t0002g0069
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.3327+81C>T
c.3327+81C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 47/53 chr12 47977021
chr12:47977173 G
G
 A
A
 1 a0001c0014t0001g0191
a0001c0014t0001g0191
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.3274-18C>T
c.3274-18C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 46/53 chr12 47977173
chr12:47977187 A
A
 C
C
 1 a0004c0015t0001g0047
a0004c0015t0001g0047
 2 HG02129.hp2
NA18747.hp2
HG02129.hp2
NA18747.hp2
 intron_variant MODIFIER c.3274-32T>G
c.3274-32T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 46/53 chr12 47977187
chr12:47977205 G
G
 A
A
 2 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0026t0004g0232
a0001c0026t0004g0233
 2 HG02258.hp1
HG03453.hp1
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.3274-50C>T
c.3274-50C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 46/53 chr12 47977205
chr12:47977228 T
T
 C
C
 11 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(8): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0013c0035t0002g0059
 13 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(10): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3274-73A>G
c.3274-73A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 46/53 chr12 47977228
chr12:47977262 A
A
 G
G
 1 a0006c0044t0004g0215
a0006c0044t0004g0215
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.3273+58T>C
c.3273+58T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 46/53 chr12 47977262
chr12:47977557 T
T
 C
C
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3165+43A>G
c.3165+43A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 45/53 chr12 47977557
chr12:47977561 C
C
 G
G
 2 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0019t0001g0034
a0003c0019t0001g0113
 3 HG02809.hp1
HG03486.hp1
NA19240.hp1
HG02809.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.3165+39G>C
c.3165+39G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 45/53 chr12 47977561
chr12:47977799 C
C
 T
T
 1 a0001c0002t0001g0165
a0001c0002t0001g0165
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.3112-146G>A
c.3112-146G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 44/53 chr12 47977799
chr12:47977812 G
G
 A
A
 82 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(79): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0003t0001g0235
a0001c0003t0001g0244
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0052
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0016t0002g0094
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0004c0010t0001g0163
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0007c0028t0001g0044
a0012c0036t0001g0153
 142 HG00140.hp1
HG00323.hp1
HG00438.hp1
others(139): Show 
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp2
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG03239.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18940.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.3112-159C>T
c.3112-159C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 44/53 chr12 47977812
chr12:47977842 C
C
 G
G
 1 a0003c0009t0002g0101
a0003c0009t0002g0101
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.3111+168G>C
c.3111+168G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 44/53 chr12 47977842
chr12:47977896 C
C
 T
T
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3111+114G>A
c.3111+114G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 44/53 chr12 47977896
chr12:47977937 T
T
 G
G
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3111+73A>C
c.3111+73A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 44/53 chr12 47977937
chr12:47977984 C
C
 T
T
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.3111+26G>A
c.3111+26G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 44/53 chr12 47977984
chr12:47978269 G
G
 C
C
 2 a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0032
a0003c0009t0002g0073
 3 HG01891.hp1
HG02055.hp1
HG02717.hp2
HG01891.hp1
HG02055.hp1
HG02717.hp2
 intron_variant MODIFIER c.3003+22C>G
c.3003+22C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 43/53 chr12 47978269
chr12:47978476 C
C
 T
T
 1 a0003c0032t0001g0114
a0003c0032t0001g0114
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.2896-78G>A
c.2896-78G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 42/53 chr12 47978476
chr12:47978500 C
C
 T
T
 4 a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
others(1): Show 
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 4 HG01884.hp2
HG02895.hp2
HG03209.hp1
others(1): Show 
HG01884.hp2
HG02895.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.2895+97G>A
c.2895+97G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 42/53 chr12 47978500
chr12:47978550 C
C
 T
T
 2 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0019t0001g0034
a0003c0019t0001g0113
 3 HG02809.hp1
HG03486.hp1
NA19240.hp1
HG02809.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.2895+47G>A
c.2895+47G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 42/53 chr12 47978550
chr12:47978800 TTCC
TTCC
 T
T
 25 a0001c0003t0007g0021
a0001c0004t0001g0051
a0001c0004t0001g0226
others(22): Show 
a0001c0003t0007g0021
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0047t0001g0192
a0001c0051t0001g0205
a0003c0005t0001g0127
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0009t0002g0028
a0003c0012t0002g0029
a0003c0012t0002g0064
a0003c0012t0002g0070
a0003c0012t0002g0071
a0003c0012t0002g0096
a0003c0030t0002g0100
 33 HG00408.hp1
HG01109.hp1
HG01192.hp1
others(30): Show 
HG00408.hp1
HG01109.hp1
HG01192.hp1
HG01346.hp2
HG02055.hp2
HG02109.hp2
HG02145.hp1
HG02257.hp2
HG02258.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp2
HG06807.hp1
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.2734-45_2734-43del
others(3): Show 
c.2734-45_2734-43delGGA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47978800
chr12:47978857 G
G
 A
A
 6 a0001c0002t0003g0152
a0001c0003t0003g0194
a0001c0003t0003g0195
others(3): Show 
a0001c0002t0003g0152
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0018t0003g0017
a0001c0018t0003g0145
 8 HG02486.hp1
HG02922.hp1
HG02970.hp1
others(5): Show 
HG02486.hp1
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03225.hp1
HG03471.hp1
 intron_variant MODIFIER c.2734-99C>T
c.2734-99C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47978857
chr12:47978903 C
C
 G
G
 1 a0001c0040t0001g0247
a0001c0040t0001g0247
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.2734-145G>C
c.2734-145G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47978903
chr12:47978919 G
G
 A
A
 1 a0002c0001t0002g0091
a0002c0001t0002g0091
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.2734-161C>T
c.2734-161C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47978919
chr12:47978957 A
A
 T
T
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2734-199T>A
c.2734-199T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47978957
chr12:47978970 C
C
 T
T
 1 a0001c0004t0001g0257
a0001c0004t0001g0257
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.2734-212G>A
c.2734-212G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47978970
chr12:47979006 C
C
 T
T
 13 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(10): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0006c0044t0004g0215
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 15 HG00280.hp2
HG01167.hp2
HG01884.hp2
others(12): Show 
HG00280.hp2
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2734-248G>A
c.2734-248G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979006
chr12:47979027 C
C
 T
T
 1 a0006c0044t0004g0215
a0006c0044t0004g0215
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.2734-269G>A
c.2734-269G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979027
chr12:47979060 G
G
 A
A
 1 a0003c0031t0002g0067
a0003c0031t0002g0067
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.2734-302C>T
c.2734-302C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979060
chr12:47979097 C
C
 T
T
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2734-339G>A
c.2734-339G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979097
chr12:47979105 T
T
 G
G
 259 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(256): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0001g0016
a0002c0001t0001g0117
a0002c0001t0001g0118
a0002c0001t0001g0121
a0002c0001t0001g0122
a0002c0001t0001g0123
a0002c0001t0001g0124
a0002c0001t0002g0001
a0002c0001t0002g0004
a0002c0001t0002g0015
a0002c0001t0002g0063
a0002c0001t0002g0069
a0002c0001t0002g0072
a0002c0001t0002g0075
a0002c0001t0002g0078
a0002c0001t0002g0080
a0002c0001t0002g0083
a0002c0001t0002g0086
a0002c0001t0002g0089
a0002c0001t0002g0091
a0002c0001t0002g0092
a0002c0001t0002g0095
a0002c0001t0002g0097
a0002c0001t0002g0103
a0002c0001t0002g0105
a0002c0001t0002g0107
a0002c0001t0002g0108
a0002c0001t0002g0109
a0002c0001t0002g0111
a0002c0001t0005g0013
a0002c0001t0010g0090
a0002c0025t0002g0031
a0003c0005t0001g0127
a0003c0005t0002g0014
a0003c0005t0002g0033
a0003c0005t0002g0068
a0003c0005t0002g0093
a0003c0005t0002g0098
a0003c0005t0002g0099
a0003c0005t0002g0110
a0003c0005t0002g0112
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0012t0002g0029
a0003c0012t0002g0064
a0003c0012t0002g0070
a0003c0012t0002g0071
a0003c0012t0002g0096
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0016t0002g0081
a0003c0016t0002g0094
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0031t0002g0067
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0008c0024t0002g0077
a0008c0024t0002g0085
a0009c0022t0008g0076
a0009c0022t0008g0102
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
a0014c0034t0002g0084
a0015c0033t0002g0082
a0016c0029t0002g0058
 399 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(396): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2734-347A>C
c.2734-347A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979105
chr12:47979181 G
G
 A
A
 2 a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0018t0003g0017
a0001c0018t0003g0145
 4 HG02486.hp1
HG02976.hp1
HG03130.hp2
others(1): Show 
HG02486.hp1
HG02976.hp1
HG03130.hp2
HG03471.hp1
 intron_variant MODIFIER c.2733+330C>T
c.2733+330C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979181
chr12:47979272 C
C
 G
G
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2733+239G>C
c.2733+239G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979272
chr12:47979291 A
A
 G
G
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2733+220T>C
c.2733+220T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979291
chr12:47979302 G
G
 A
A
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2733+209C>T
c.2733+209C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979302
chr12:47979314 T
T
 G
G
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2733+197A>C
c.2733+197A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979314
chr12:47979318 G
G
 A
A
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2733+193C>T
c.2733+193C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979318
chr12:47979393 G
G
 A
A
 2 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0019t0001g0034
a0003c0019t0001g0113
 3 HG02809.hp1
HG03486.hp1
NA19240.hp1
HG02809.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.2733+118C>T
c.2733+118C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979393
chr12:47979398 A
A
 G
G
 62 a0001c0002t0001g0039
a0001c0002t0001g0180
a0001c0002t0001g0250
others(59): Show 
a0001c0002t0001g0039
a0001c0002t0001g0180
a0001c0002t0001g0250
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0209
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0011g0242
a0001c0004t0001g0012
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0003c0005t0002g0033
a0003c0005t0002g0110
a0003c0013t0002g0088
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0004c0007t0001g0248
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0224
a0004c0015t0001g0258
a0004c0015t0006g0259
a0006c0044t0004g0215
a0009c0022t0008g0076
a0009c0022t0008g0102
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 79 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(76): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp2
HG01167.hp2
HG01261.hp2
HG01496.hp1
HG01884.hp2
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02071.hp2
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp2
HG02280.hp2
HG02523.hp2
HG02615.hp2
HG02683.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03017.hp2
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp2
HG03688.hp1
HG03704.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18955.hp1
NA18979.hp1
NA18980.hp2
NA18987.hp2
NA19004.hp1
NA19010.hp1
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19060.hp2
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp1
NA19083.hp2
NA19085.hp1
NA19091.hp2
NA19240.hp1
NA20905.hp2
 intron_variant MODIFIER c.2733+113T>C
c.2733+113T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 41/53 chr12 47979398
chr12:47979636 C
C
 G
G
 1 a0001c0006t0001g0208
a0001c0006t0001g0208
 1 NA18968.hp1
NA18968.hp1
 intron_variant MODIFIER c.2680-72G>C
c.2680-72G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979636
chr12:47979655 T
T
 C
C
 1 a0001c0040t0001g0247
a0001c0040t0001g0247
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.2680-91A>G
c.2680-91A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979655
chr12:47979669 C
C
 T
T
 7 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0066
others(4): Show 
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 8 HG01884.hp2
HG02809.hp1
HG02895.hp2
others(5): Show 
HG01884.hp2
HG02809.hp1
HG02895.hp2
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2680-105G>A
c.2680-105G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979669
chr12:47979696 T
T
 G
G
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2680-132A>C
c.2680-132A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979696
chr12:47979719 C
C
 T
T
 1 a0001c0003t0001g0236
a0001c0003t0001g0236
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.2680-155G>A
c.2680-155G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979719
chr12:47979728 T
T
 C
C
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2680-164A>G
c.2680-164A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979728
chr12:47979753 C
C
 A
A
 1 a0001c0004t0001g0226
a0001c0004t0001g0226
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.2680-189G>T
c.2680-189G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979753
chr12:47979787 G
G
 T
T
 28 a0001c0002t0001g0019
a0001c0002t0001g0040
a0001c0002t0001g0157
others(25): Show 
a0001c0002t0001g0019
a0001c0002t0001g0040
a0001c0002t0001g0157
a0001c0002t0001g0168
a0001c0002t0001g0176
a0001c0003t0001g0244
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0052
a0001c0004t0001g0213
a0001c0004t0001g0223
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0007c0028t0001g0044
 53 HG00621.hp1
HG00639.hp2
HG01069.hp1
others(50): Show 
HG00621.hp1
HG00639.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01106.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01934.hp2
HG01975.hp2
HG01993.hp2
HG02040.hp1
HG02074.hp1
HG02155.hp2
HG02165.hp2
HG02486.hp2
HG02683.hp1
HG03239.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03710.hp2
NA18612.hp1
NA18940.hp2
NA18950.hp2
NA18953.hp1
NA18959.hp1
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18981.hp1
NA18983.hp2
NA18986.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19087.hp1
NA19090.hp1
NA20300.hp1
 intron_variant MODIFIER c.2679+222C>A
c.2679+222C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979787
chr12:47979831 C
C
 A
A
 1 a0002c0001t0002g0107
a0002c0001t0002g0107
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.2679+178G>T
c.2679+178G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979831
chr12:47979898 C
C
 T
T
 1 a0001c0027t0001g0229
a0001c0027t0001g0229
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.2679+111G>A
c.2679+111G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979898
chr12:47979918 C
C
 T
T
 1 a0001c0004t0001g0057
a0001c0004t0001g0057
 2 NA19077.hp2
NA19091.hp2
NA19077.hp2
NA19091.hp2
 intron_variant MODIFIER c.2679+91G>A
c.2679+91G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979918
chr12:47979935 A
A
 AC
AC
 259 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(256): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0001g0016
a0002c0001t0001g0117
a0002c0001t0001g0118
a0002c0001t0001g0121
a0002c0001t0001g0122
a0002c0001t0001g0123
a0002c0001t0001g0124
a0002c0001t0002g0001
a0002c0001t0002g0004
a0002c0001t0002g0015
a0002c0001t0002g0063
a0002c0001t0002g0069
a0002c0001t0002g0072
a0002c0001t0002g0075
a0002c0001t0002g0078
a0002c0001t0002g0080
a0002c0001t0002g0083
a0002c0001t0002g0086
a0002c0001t0002g0089
a0002c0001t0002g0091
a0002c0001t0002g0092
a0002c0001t0002g0095
a0002c0001t0002g0097
a0002c0001t0002g0103
a0002c0001t0002g0105
a0002c0001t0002g0107
a0002c0001t0002g0108
a0002c0001t0002g0109
a0002c0001t0002g0111
a0002c0001t0005g0013
a0002c0001t0010g0090
a0002c0025t0002g0031
a0003c0005t0001g0127
a0003c0005t0002g0014
a0003c0005t0002g0033
a0003c0005t0002g0068
a0003c0005t0002g0093
a0003c0005t0002g0098
a0003c0005t0002g0099
a0003c0005t0002g0110
a0003c0005t0002g0112
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0012t0002g0029
a0003c0012t0002g0064
a0003c0012t0002g0070
a0003c0012t0002g0071
a0003c0012t0002g0096
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0016t0002g0081
a0003c0016t0002g0094
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0031t0002g0067
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0008c0024t0002g0077
a0008c0024t0002g0085
a0009c0022t0008g0076
a0009c0022t0008g0102
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
a0014c0034t0002g0084
a0015c0033t0002g0082
a0016c0029t0002g0058
 399 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(396): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2679+73dupG
c.2679+73dupG
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979935
chr12:47979979 G
G
 A
A
 6 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(3): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0021t0002g0062
a0003c0021t0002g0066
 7 HG01167.hp2
HG02145.hp2
HG02717.hp1
others(4): Show 
HG01167.hp2
HG02145.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03486.hp2
 intron_variant MODIFIER c.2679+30C>T
c.2679+30C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 40/53 chr12 47979979
chr12:47980156 G
G
 A
A
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2626-94C>T
c.2626-94C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 39/53 chr12 47980156
chr12:47980160 A
A
 G
G
 4 a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
others(1): Show 
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 4 HG01884.hp2
HG02895.hp2
HG03209.hp1
others(1): Show 
HG01884.hp2
HG02895.hp2
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.2626-98T>C
c.2626-98T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 39/53 chr12 47980160
chr12:47980228 A
A
 G
G
 14 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(11): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0042t0001g0186
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0006c0044t0004g0215
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 16 HG00280.hp2
HG00741.hp1
HG01167.hp2
others(13): Show 
HG00280.hp2
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2626-166T>C
c.2626-166T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 39/53 chr12 47980228
chr12:47980245 T
T
 C
C
 14 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(11): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0042t0001g0186
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0006c0044t0004g0215
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 16 HG00280.hp2
HG00741.hp1
HG01167.hp2
others(13): Show 
HG00280.hp2
HG00741.hp1
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2626-183A>G
c.2626-183A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 39/53 chr12 47980245
chr12:47980296 G
G
 A
A
 2 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0019t0001g0034
a0003c0019t0001g0113
 3 HG02809.hp1
HG03486.hp1
NA19240.hp1
HG02809.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.2626-234C>T
c.2626-234C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 39/53 chr12 47980296
chr12:47980513 C
C
 T
T
 2 a0010c0052t0001g0193
a0013c0035t0002g0059
a0010c0052t0001g0193
a0013c0035t0002g0059
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.2625+41G>A
c.2625+41G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 39/53 chr12 47980513
chr12:47980545 G
G
 A
A
 12 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(9): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 14 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(11): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp1
HG03486.hp2
NA18522.hp1
NA19240.hp1
 intron_variant MODIFIER c.2625+9C>T
c.2625+9C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 39/53 chr12 47980545
chr12:47980730 A
A
 G
G
 259 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(256): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0001g0016
a0002c0001t0001g0117
a0002c0001t0001g0118
a0002c0001t0001g0121
a0002c0001t0001g0122
a0002c0001t0001g0123
a0002c0001t0001g0124
a0002c0001t0002g0001
a0002c0001t0002g0004
a0002c0001t0002g0015
a0002c0001t0002g0063
a0002c0001t0002g0069
a0002c0001t0002g0072
a0002c0001t0002g0075
a0002c0001t0002g0078
a0002c0001t0002g0080
a0002c0001t0002g0083
a0002c0001t0002g0086
a0002c0001t0002g0089
a0002c0001t0002g0091
a0002c0001t0002g0092
a0002c0001t0002g0095
a0002c0001t0002g0097
a0002c0001t0002g0103
a0002c0001t0002g0105
a0002c0001t0002g0107
a0002c0001t0002g0108
a0002c0001t0002g0109
a0002c0001t0002g0111
a0002c0001t0005g0013
a0002c0001t0010g0090
a0002c0025t0002g0031
a0003c0005t0001g0127
a0003c0005t0002g0014
a0003c0005t0002g0033
a0003c0005t0002g0068
a0003c0005t0002g0093
a0003c0005t0002g0098
a0003c0005t0002g0099
a0003c0005t0002g0110
a0003c0005t0002g0112
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0012t0002g0029
a0003c0012t0002g0064
a0003c0012t0002g0070
a0003c0012t0002g0071
a0003c0012t0002g0096
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0016t0002g0081
a0003c0016t0002g0094
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0031t0002g0067
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0008c0024t0002g0077
a0008c0024t0002g0085
a0009c0022t0008g0076
a0009c0022t0008g0102
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
a0014c0034t0002g0084
a0015c0033t0002g0082
a0016c0029t0002g0058
 399 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(396): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2518-69T>C
c.2518-69T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 38/53 chr12 47980730
chr12:47980752 G
G
 A
A
 10 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(7): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 11 HG01167.hp2
HG01884.hp2
HG02145.hp2
others(8): Show 
HG01167.hp2
HG01884.hp2
HG02145.hp2
HG02717.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03209.hp1
HG03486.hp2
NA18522.hp1
 intron_variant MODIFIER c.2518-91C>T
c.2518-91C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 38/53 chr12 47980752
chr12:47980833 T
T
 C
C
 33 a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
others(30): Show 
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0231
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0039t0001g0197
a0001c0042t0001g0186
a0003c0005t0002g0068
a0003c0005t0002g0093
a0003c0005t0002g0098
a0003c0005t0002g0099
a0003c0005t0002g0112
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0032t0001g0114
a0006c0044t0004g0215
a0010c0052t0001g0193
a0011c0045t0001g0268
a0013c0035t0002g0059
 42 HG00280.hp2
HG00741.hp1
HG01099.hp1
others(39): Show 
HG00280.hp2
HG00741.hp1
HG01099.hp1
HG01884.hp2
HG02055.hp2
HG02257.hp1
HG02280.hp1
HG02486.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp1
HG02976.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA19043.hp1
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.2517+82A>G
c.2517+82A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 38/53 chr12 47980833
chr12:47981043 T
T
 G
G
 88 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(85): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0003t0001g0235
a0001c0003t0001g0244
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0052
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0016t0002g0094
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0032t0001g0114
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0007c0028t0001g0044
a0011c0045t0001g0268
a0012c0036t0001g0153
 149 HG00140.hp1
HG00323.hp1
HG00438.hp1
others(146): Show 
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02132.hp2
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp2
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG03139.hp1
HG03239.hp2
HG03486.hp2
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18612.hp1
NA18612.hp2
NA18940.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.2464-75A>C
c.2464-75A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 37/53 chr12 47981043
chr12:47981076 C
C
 T
T
 1 a0003c0009t0002g0104
a0003c0009t0002g0104
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2464-108G>A
c.2464-108G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 37/53 chr12 47981076
chr12:47981149 A
A
 T
T
 3 a0001c0003t0007g0021
a0003c0005t0009g0061
a0003c0005t0009g0106
a0001c0003t0007g0021
a0003c0005t0009g0061
a0003c0005t0009g0106
 5 HG02055.hp2
HG03516.hp2
HG03540.hp1
others(2): Show 
HG02055.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG06807.hp1
 intron_variant MODIFIER c.2464-181T>A
c.2464-181T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 37/53 chr12 47981149
chr12:47981475 G
G
 T
T
 2 a0001c0042t0001g0186
a0006c0044t0004g0215
a0001c0042t0001g0186
a0006c0044t0004g0215
 2 HG00280.hp2
HG00741.hp1
HG00280.hp2
HG00741.hp1
 intron_variant MODIFIER c.2410-79C>A
c.2410-79C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 36/53 chr12 47981475
chr12:47981654 C
C
 CT
CT
 62 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
others(59): Show 
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0042t0001g0186
a0001c0043t0001g0183
a0002c0001t0001g0016
a0002c0001t0001g0118
a0002c0001t0001g0121
a0002c0001t0001g0123
a0002c0001t0001g0124
a0002c0001t0002g0001
a0002c0001t0002g0004
a0002c0001t0002g0015
a0002c0001t0002g0063
a0002c0001t0002g0069
a0002c0001t0002g0072
a0002c0001t0002g0075
a0002c0001t0002g0078
a0002c0001t0002g0080
a0002c0001t0002g0083
a0002c0001t0002g0086
a0002c0001t0002g0089
a0002c0001t0002g0091
a0002c0001t0002g0092
a0002c0001t0002g0095
a0002c0001t0002g0097
a0002c0001t0002g0103
a0002c0001t0002g0105
a0002c0001t0002g0107
a0002c0001t0002g0108
a0002c0001t0002g0109
a0002c0001t0002g0111
a0002c0001t0005g0013
a0002c0001t0010g0090
a0002c0025t0002g0031
a0003c0005t0002g0014
a0003c0016t0002g0081
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0031t0002g0067
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0248
a0004c0010t0001g0163
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0006c0044t0004g0215
a0008c0024t0002g0077
a0008c0024t0002g0085
a0010c0052t0001g0193
a0013c0035t0002g0059
a0014c0034t0002g0084
a0015c0033t0002g0082
a0016c0029t0002g0058
 110 HG00280.hp1
HG00280.hp2
HG00323.hp2
others(107): Show 
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01361.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02071.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02135.hp2
HG02155.hp1
HG02165.hp1
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp1
HG02735.hp2
HG02809.hp1
HG02965.hp2
HG03017.hp1
HG03209.hp1
HG03453.hp1
HG03486.hp1
HG03669.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp1
HG04204.hp1
NA18522.hp1
NA18747.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18947.hp1
NA18948.hp2
NA18949.hp2
NA18950.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp2
NA18957.hp1
NA18960.hp1
NA18962.hp1
NA18964.hp1
NA18967.hp2
NA18968.hp2
NA18971.hp1
NA18978.hp1
NA18979.hp2
NA18984.hp1
NA18984.hp2
NA18986.hp1
NA18987.hp1
NA18988.hp1
NA18992.hp1
NA18994.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19054.hp2
NA19055.hp2
NA19056.hp1
NA19058.hp2
NA19063.hp1
NA19068.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19085.hp2
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA20752.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2409+121dupA
c.2409+121dupA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 36/53 chr12 47981654
chr12:47981668 G
G
 A
A
 7 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0042t0001g0186
others(4): Show 
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0042t0001g0186
a0001c0043t0001g0183
a0003c0031t0002g0067
a0003c0032t0001g0114
a0006c0044t0004g0215
 7 HG00280.hp2
HG00741.hp1
HG01884.hp1
others(4): Show 
HG00280.hp2
HG00741.hp1
HG01884.hp1
HG01884.hp2
HG02258.hp1
HG02965.hp2
HG03453.hp1
 intron_variant MODIFIER c.2409+108C>T
c.2409+108C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 36/53 chr12 47981668
chr12:47981692 C
C
 G
G
 84 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(81): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0052
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0256
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0016t0002g0094
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0004c0015t0001g0047
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0007c0028t0001g0044
a0010c0052t0001g0193
a0012c0036t0001g0153
a0013c0035t0002g0059
 146 HG00140.hp1
HG00323.hp1
HG00438.hp1
others(143): Show 
HG00140.hp1
HG00323.hp1
HG00438.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02602.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG03209.hp1
HG03239.hp2
HG03486.hp1
HG03492.hp1
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18940.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp1
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.2409+84G>C
c.2409+84G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 36/53 chr12 47981692
chr12:47981881 C
C
 T
T
 1 a0001c0003t0001g0235
a0001c0003t0001g0235
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.2356-52G>A
c.2356-52G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 35/53 chr12 47981881
chr12:47981885 C
C
 A
A
 5 a0001c0027t0001g0185
a0001c0042t0001g0186
a0003c0016t0001g0115
others(2): Show 
a0001c0027t0001g0185
a0001c0042t0001g0186
a0003c0016t0001g0115
a0003c0016t0001g0116
a0006c0044t0004g0215
 5 HG00280.hp2
HG00741.hp1
HG02257.hp1
others(2): Show 
HG00280.hp2
HG00741.hp1
HG02257.hp1
HG02896.hp2
NA19043.hp1
 intron_variant MODIFIER c.2356-56G>T
c.2356-56G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 35/53 chr12 47981885
chr12:47981891 G
G
 T
T
 1 a0003c0005t0002g0014
a0003c0005t0002g0014
 3 HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
 intron_variant MODIFIER c.2356-62C>A
c.2356-62C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 35/53 chr12 47981891
chr12:47981919 C
C
 G
G
 1 a0001c0003t0001g0131
a0001c0003t0001g0131
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.2356-90G>C
c.2356-90G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 35/53 chr12 47981919
chr12:47981924 G
G
 A
A
 3 a0001c0003t0001g0184
a0003c0005t0002g0026
a0003c0023t0002g0027
a0001c0003t0001g0184
a0003c0005t0002g0026
a0003c0023t0002g0027
 5 HG02572.hp1
HG02886.hp1
HG03209.hp2
others(2): Show 
HG02572.hp1
HG02886.hp1
HG03209.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.2356-95C>T
c.2356-95C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 35/53 chr12 47981924
chr12:47982039 C
C
 T
T
 7 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
others(4): Show 
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0042t0001g0186
a0001c0043t0001g0183
a0003c0031t0002g0067
a0006c0044t0004g0215
 7 HG00280.hp2
HG00741.hp1
HG01884.hp1
others(4): Show 
HG00280.hp2
HG00741.hp1
HG01884.hp1
HG02258.hp1
HG02559.hp1
HG02965.hp2
HG03453.hp1
 intron_variant MODIFIER c.2355+68G>A
c.2355+68G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 35/53 chr12 47982039
chr12:47982047 C
C
 T
T
 1 a0002c0001t0002g0083
a0002c0001t0002g0083
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.2355+60G>A
c.2355+60G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 35/53 chr12 47982047
chr12:47982182 C
C
 T
T
 133 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(130): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0032t0001g0114
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0011c0045t0001g0268
a0012c0036t0001g0153
 206 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(203): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02300.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2302-22G>A
c.2302-22G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 34/53 chr12 47982182
chr12:47982192 A
A
 G
G
 140 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(137): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0032t0001g0114
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 215 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(212): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01167.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02300.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2302-32T>C
c.2302-32T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 34/53 chr12 47982192
chr12:47982293 G
G
 A
A
 7 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
others(4): Show 
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0042t0001g0186
a0001c0043t0001g0183
a0003c0031t0002g0067
a0006c0044t0004g0215
 7 HG00280.hp2
HG00741.hp1
HG01884.hp1
others(4): Show 
HG00280.hp2
HG00741.hp1
HG01884.hp1
HG02258.hp1
HG02559.hp1
HG02965.hp2
HG03453.hp1
 intron_variant MODIFIER c.2302-133C>T
c.2302-133C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 34/53 chr12 47982293
chr12:47982354 G
G
 A
A
 127 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(124): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0012c0036t0001g0153
 201 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(198): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02300.hp1
HG02523.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03471.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2301+148C>T
c.2301+148C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 34/53 chr12 47982354
chr12:47982369 G
G
 A
A
 1 a0001c0008t0001g0201
a0001c0008t0001g0201
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.2301+133C>T
c.2301+133C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 34/53 chr12 47982369
chr12:47982430 G
G
 A
A
 41 a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
others(38): Show 
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0209
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0027t0001g0185
a0001c0046t0001g0132
a0003c0005t0002g0033
a0003c0005t0002g0110
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0010c0052t0001g0193
a0013c0035t0002g0059
 52 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(49): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02055.hp2
HG02109.hp1
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02809.hp1
HG02896.hp2
HG03017.hp2
HG03209.hp1
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp1
NA18978.hp2
NA18980.hp2
NA19004.hp1
NA19043.hp1
NA19060.hp2
NA19079.hp2
NA19083.hp2
NA19085.hp1
NA19240.hp1
 intron_variant MODIFIER c.2301+72C>T
c.2301+72C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 34/53 chr12 47982430
chr12:47982639 G
G
 A
A
 5 a0001c0027t0001g0185
a0003c0016t0001g0115
a0003c0016t0001g0116
others(2): Show 
a0001c0027t0001g0185
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
 6 HG02257.hp1
HG02809.hp1
HG02896.hp2
others(3): Show 
HG02257.hp1
HG02809.hp1
HG02896.hp2
HG03486.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.2194-30C>T
c.2194-30C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982639
chr12:47982660 A
A
 AC
AC
 133 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(130): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0003c0031t0002g0067
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0012c0036t0001g0153
 207 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(204): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2194-52dupG
c.2194-52dupG
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982660
chr12:47982664 A
A
 G
G
 134 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(131): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0003c0031t0002g0067
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0012c0036t0001g0153
 208 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(205): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2194-55T>C
c.2194-55T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982664
chr12:47982691 C
C
 A
A
 15 a0001c0002t0001g0180
a0001c0002t0001g0250
a0001c0004t0001g0012
others(12): Show 
a0001c0002t0001g0180
a0001c0002t0001g0250
a0001c0004t0001g0012
a0001c0004t0001g0137
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0048t0001g0260
a0003c0013t0002g0088
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
 18 HG00423.hp2
HG00544.hp1
HG00738.hp2
others(15): Show 
HG00423.hp2
HG00544.hp1
HG00738.hp2
HG02071.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02523.hp2
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18941.hp1
NA18943.hp2
NA18987.hp2
NA19054.hp1
NA19063.hp2
NA19070.hp2
NA20905.hp2
 intron_variant MODIFIER c.2194-82G>T
c.2194-82G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982691
chr12:47982720 C
C
 T
T
 134 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(131): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0003c0031t0002g0067
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0012c0036t0001g0153
 208 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(205): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2194-111G>A
c.2194-111G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982720
chr12:47982747 C
C
 A
A
 141 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(138): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0012t0002g0029
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0003c0031t0002g0067
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0012c0036t0001g0153
 217 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(214): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.2193+101G>T
c.2193+101G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982747
chr12:47982791 G
G
 A
A
 7 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
others(4): Show 
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0042t0001g0186
a0001c0043t0001g0183
a0003c0031t0002g0067
a0006c0044t0004g0215
 7 HG00280.hp2
HG00741.hp1
HG01884.hp1
others(4): Show 
HG00280.hp2
HG00741.hp1
HG01884.hp1
HG02258.hp1
HG02559.hp1
HG02965.hp2
HG03453.hp1
 intron_variant MODIFIER c.2193+57C>T
c.2193+57C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982791
chr12:47982816 C
C
 T
T
 20 a0001c0002t0001g0180
a0001c0002t0001g0250
a0001c0004t0001g0012
others(17): Show 
a0001c0002t0001g0180
a0001c0002t0001g0250
a0001c0004t0001g0012
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0048t0001g0260
a0003c0013t0002g0088
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0009c0022t0008g0076
a0009c0022t0008g0102
 25 HG00423.hp2
HG00544.hp1
HG00738.hp2
others(22): Show 
HG00423.hp2
HG00544.hp1
HG00738.hp2
HG02071.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02523.hp2
HG02723.hp1
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18955.hp1
NA18987.hp2
NA19054.hp1
NA19057.hp2
NA19063.hp2
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19091.hp2
NA20905.hp2
 intron_variant MODIFIER c.2193+32G>A
c.2193+32G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 33/53 chr12 47982816
chr12:47982990 G
G
 T
T
 1 a0003c0005t0002g0099
a0003c0005t0002g0099
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2095-44C>A
c.2095-44C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 32/53 chr12 47982990
chr12:47983069 C
C
 T
T
 1 a0004c0017t0012g0177
a0004c0017t0012g0177
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.2094+24G>A
c.2094+24G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 32/53 chr12 47983069
chr12:47983081 C
C
 G
G
 14 a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
others(11): Show 
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0051t0001g0205
a0003c0030t0002g0100
 18 HG01192.hp1
HG02257.hp2
HG02572.hp2
others(15): Show 
HG01192.hp1
HG02257.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
NA18906.hp2
NA19240.hp2
 intron_variant MODIFIER c.2094+12G>C
c.2094+12G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 32/53 chr12 47983081
chr12:47983084 G
G
 T
T
 1 a0002c0001t0002g0109
a0002c0001t0002g0109
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.2094+9C>A
c.2094+9C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 32/53 chr12 47983084
chr12:47983086 T
T
 C
C
 2 a0001c0027t0001g0229
a0001c0042t0001g0186
a0001c0027t0001g0229
a0001c0042t0001g0186
 2 HG00741.hp1
HG02559.hp1
HG00741.hp1
HG02559.hp1
 splice_region_variant&intron_variant LOW c.2094+7A>G
c.2094+7A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 32/53 chr12 47983086
chr12:47983181 A
A
 T
T
 1 a0002c0001t0002g0080
a0002c0001t0002g0080
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.2050-44T>A
c.2050-44T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 31/53 chr12 47983181
chr12:47983186 C
C
 A
A
 31 a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
others(28): Show 
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0209
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0011g0242
a0001c0046t0001g0132
a0003c0005t0002g0033
a0003c0005t0002g0110
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
 39 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(36): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18978.hp2
NA18980.hp2
NA19004.hp1
NA19060.hp2
NA19079.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.2050-49G>T
c.2050-49G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 31/53 chr12 47983186
chr12:47983448 G
G
 A
A
 1 a0001c0002t0001g0250
a0001c0002t0001g0250
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.1996-10C>T
c.1996-10C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 30/53 chr12 47983448
chr12:47983533 C
C
 T
T
 1 a0001c0002t0001g0156
a0001c0002t0001g0156
 1 NA18972.hp2
NA18972.hp2
 intron_variant MODIFIER c.1996-95G>A
c.1996-95G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 30/53 chr12 47983533
chr12:47983572 G
G
 A
A
 1 a0001c0002t0001g0161
a0001c0002t0001g0161
 1 HG01175.hp1
HG01175.hp1
 intron_variant MODIFIER c.1995+111C>T
c.1995+111C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 30/53 chr12 47983572
chr12:47983593 G
G
 A
A
 1 a0002c0001t0002g0083
a0002c0001t0002g0083
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1995+90C>T
c.1995+90C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 30/53 chr12 47983593
chr12:47983852 A
A
 G
G
 2 a0001c0027t0001g0229
a0001c0042t0001g0186
a0001c0027t0001g0229
a0001c0042t0001g0186
 2 HG00741.hp1
HG02559.hp1
HG00741.hp1
HG02559.hp1
 intron_variant MODIFIER c.1942-116T>C
c.1942-116T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 29/53 chr12 47983852
chr12:47983870 T
T
 A
A
 20 a0001c0002t0001g0180
a0001c0002t0001g0250
a0001c0004t0001g0012
others(17): Show 
a0001c0002t0001g0180
a0001c0002t0001g0250
a0001c0004t0001g0012
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0048t0001g0260
a0003c0013t0002g0088
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0009c0022t0008g0076
a0009c0022t0008g0102
 25 HG00423.hp2
HG00544.hp1
HG00738.hp2
others(22): Show 
HG00423.hp2
HG00544.hp1
HG00738.hp2
HG02071.hp2
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02523.hp2
HG02723.hp1
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18955.hp1
NA18987.hp2
NA19054.hp1
NA19057.hp2
NA19063.hp2
NA19070.hp2
NA19077.hp2
NA19081.hp1
NA19091.hp2
NA20905.hp2
 intron_variant MODIFIER c.1942-134A>T
c.1942-134A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 29/53 chr12 47983870
chr12:47983935 T
T
 C
C
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1941+152A>G
c.1941+152A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 29/53 chr12 47983935
chr12:47983973 T
T
 C
C
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1941+114A>G
c.1941+114A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 29/53 chr12 47983973
chr12:47984164 G
G
 T
T
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1888-24C>A
c.1888-24C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 28/53 chr12 47984164
chr12:47984174 C
C
 T
T
 4 a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0043t0001g0183
others(1): Show 
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0043t0001g0183
a0003c0031t0002g0067
 4 HG01884.hp1
HG02258.hp1
HG02965.hp2
others(1): Show 
HG01884.hp1
HG02258.hp1
HG02965.hp2
HG03453.hp1
 intron_variant MODIFIER c.1888-34G>A
c.1888-34G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 28/53 chr12 47984174
chr12:47984175 G
G
 A
A
 1 a0001c0003t0001g0203
a0001c0003t0001g0203
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.1888-35C>T
c.1888-35C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 28/53 chr12 47984175
chr12:47984187 A
A
 G
G
 184 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(181): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0209
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0033
a0003c0005t0002g0110
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0031t0002g0067
a0003c0032t0001g0114
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0009c0022t0008g0076
a0009c0022t0008g0102
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 270 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(267): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1888-47T>C
c.1888-47T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 28/53 chr12 47984187
chr12:47984248 G
G
 A
A
 1 a0003c0032t0001g0114
a0003c0032t0001g0114
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.1888-108C>T
c.1888-108C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 28/53 chr12 47984248
chr12:47984453 T
T
 A
A
 1 a0002c0001t0001g0123
a0002c0001t0001g0123
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.1887+93A>T
c.1887+93A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 28/53 chr12 47984453
chr12:47984649 T
T
 C
C
 2 a0010c0052t0001g0193
a0013c0035t0002g0059
a0010c0052t0001g0193
a0013c0035t0002g0059
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.1834-50A>G
c.1834-50A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 27/53 chr12 47984649
chr12:47984878 G
G
 C
C
 1 a0001c0002t0001g0148
a0001c0002t0001g0148
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.1833+117C>G
c.1833+117C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 27/53 chr12 47984878
chr12:47985117 A
A
 G
G
 2 a0001c0003t0001g0135
a0001c0042t0001g0186
a0001c0003t0001g0135
a0001c0042t0001g0186
 2 HG00741.hp1
HG02622.hp1
HG00741.hp1
HG02622.hp1
 intron_variant MODIFIER c.1735-24T>C
c.1735-24T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985117
chr12:47985136 C
C
 T
T
 1 a0001c0003t0007g0021
a0001c0003t0007g0021
 3 HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
 intron_variant MODIFIER c.1735-43G>A
c.1735-43G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985136
chr12:47985150 C
C
 G
G
 7 a0001c0003t0001g0135
a0001c0014t0001g0043
a0001c0014t0001g0191
others(4): Show 
a0001c0003t0001g0135
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0042t0001g0186
a0003c0021t0002g0066
 8 HG00741.hp1
HG01167.hp2
HG02145.hp2
others(5): Show 
HG00741.hp1
HG01167.hp2
HG02145.hp2
HG02622.hp1
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03486.hp2
 intron_variant MODIFIER c.1735-57G>C
c.1735-57G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985150
chr12:47985247 C
C
 T
T
 1 a0004c0007t0001g0144
a0004c0007t0001g0144
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1735-154G>A
c.1735-154G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985247
chr12:47985248 T
T
 A
A
 1 a0004c0007t0001g0144
a0004c0007t0001g0144
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1735-155A>T
c.1735-155A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985248
chr12:47985249 A
A
 C
C
 1 a0004c0007t0001g0144
a0004c0007t0001g0144
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.1735-156T>G
c.1735-156T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985249
chr12:47985253 C
C
 G
G
 3 a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
 3 NA19060.hp2
NA19083.hp2
NA19085.hp1
NA19060.hp2
NA19083.hp2
NA19085.hp1
 intron_variant MODIFIER c.1735-160G>C
c.1735-160G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985253
chr12:47985299 G
G
 A
A
 4 a0001c0003t0001g0228
a0001c0027t0001g0229
a0003c0032t0001g0114
others(1): Show 
a0001c0003t0001g0228
a0001c0027t0001g0229
a0003c0032t0001g0114
a0011c0045t0001g0268
 4 HG01884.hp2
HG02559.hp1
HG02895.hp2
others(1): Show 
HG01884.hp2
HG02559.hp1
HG02895.hp2
HG03516.hp1
 intron_variant MODIFIER c.1735-206C>T
c.1735-206C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 26/53 chr12 47985299
chr12:47985610 G
G
 A
A
 1 a0013c0035t0002g0059
a0013c0035t0002g0059
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1681-23C>T
c.1681-23C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 25/53 chr12 47985610
chr12:47985625 C
C
 T
T
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1681-38G>A
c.1681-38G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 25/53 chr12 47985625
chr12:47985711 G
G
 A
A
 4 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(1): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
 5 HG01167.hp2
HG02145.hp2
HG02818.hp1
others(2): Show 
HG01167.hp2
HG02145.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp1
 intron_variant MODIFIER c.1680+17C>T
c.1680+17C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 25/53 chr12 47985711
chr12:47986027 G
G
 A
A
 121 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(118): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0004t0001g0012
a0001c0004t0001g0023
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0137
a0001c0004t0001g0210
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0068
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0007c0028t0001g0044
a0012c0036t0001g0153
 188 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(185): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1528-62C>T
c.1528-62C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986027
chr12:47986073 T
T
 C
C
 144 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(141): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0240
a0001c0003t0003g0194
a0001c0003t0003g0196
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0001g0124
a0002c0001t0002g0086
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0068
a0003c0005t0002g0087
a0003c0005t0002g0099
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
 225 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(222): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18986.hp2
NA18987.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1528-108A>G
c.1528-108A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986073
chr12:47986121 CG
CG
 C
C
 3 a0001c0026t0004g0232
a0001c0026t0004g0233
a0003c0005t0002g0099
a0001c0026t0004g0232
a0001c0026t0004g0233
a0003c0005t0002g0099
 3 HG01099.hp1
HG02258.hp1
HG03453.hp1
HG01099.hp1
HG02258.hp1
HG03453.hp1
 intron_variant MODIFIER c.1528-157delC
c.1528-157delC
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986121
chr12:47986178 A
A
 C
C
 138 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(135): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0240
a0001c0003t0003g0194
a0001c0003t0003g0196
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0068
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
 218 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(215): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1527+158T>G
c.1527+158T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986178
chr12:47986181 A
A
 G
G
 138 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(135): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0240
a0001c0003t0003g0194
a0001c0003t0003g0196
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0068
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
 218 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(215): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19068.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1527+155T>C
c.1527+155T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986181
chr12:47986203 C
C
 T
T
 2 a0009c0022t0008g0076
a0009c0022t0008g0102
a0009c0022t0008g0076
a0009c0022t0008g0102
 2 NA18942.hp2
NA19057.hp2
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.1527+133G>A
c.1527+133G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986203
chr12:47986216 G
G
 A
A
 1 a0001c0003t0001g0245
a0001c0003t0001g0245
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.1527+120C>T
c.1527+120C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986216
chr12:47986248 A
A
 G
G
 139 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(136): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0240
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
 220 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(217): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03492.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1527+88T>C
c.1527+88T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986248
chr12:47986264 C
C
 T
T
 2 a0001c0006t0001g0206
a0001c0006t0006g0207
a0001c0006t0001g0206
a0001c0006t0006g0207
 2 NA18953.hp1
NA19058.hp1
NA18953.hp1
NA19058.hp1
 intron_variant MODIFIER c.1527+72G>A
c.1527+72G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986264
chr12:47986291 C
C
 T
T
 1 a0002c0001t0001g0122
a0002c0001t0001g0122
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.1527+45G>A
c.1527+45G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986291
chr12:47986292 G
G
 A
A
 2 a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0016t0001g0115
a0003c0016t0001g0116
 2 HG02257.hp1
HG02896.hp2
HG02257.hp1
HG02896.hp2
 intron_variant MODIFIER c.1527+44C>T
c.1527+44C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 23/53 chr12 47986292
chr12:47986496 C
C
 T
T
 1 a0001c0014t0001g0220
a0001c0014t0001g0220
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1420-53G>A
c.1420-53G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 22/53 chr12 47986496
chr12:47986548 T
T
 TG
TG
 35 a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
others(32): Show 
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0184
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0011g0242
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0241
a0001c0004t0001g0266
a0001c0046t0001g0132
a0002c0001t0002g0089
a0003c0005t0002g0110
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0009c0022t0008g0076
a0009c0022t0008g0102
 44 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(41): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG01074.hp2
HG01081.hp2
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp1
HG02886.hp1
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
NA18942.hp2
NA18955.hp1
NA18978.hp2
NA18994.hp1
NA19004.hp1
NA19057.hp2
NA19060.hp2
NA19077.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19085.hp1
NA19091.hp2
 intron_variant MODIFIER c.1420-106dupC
c.1420-106dupC
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 22/53 chr12 47986548
chr12:47986550 G
G
 C
C
 1 a0004c0010t0001g0037
a0004c0010t0001g0037
 2 NA18966.hp2
NA19007.hp2
NA18966.hp2
NA19007.hp2
 intron_variant MODIFIER c.1420-107C>G
c.1420-107C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 22/53 chr12 47986550
chr12:47986553 G
G
 C
C
 3 a0001c0003t0001g0228
a0001c0027t0001g0229
a0004c0010t0001g0163
a0001c0003t0001g0228
a0001c0027t0001g0229
a0004c0010t0001g0163
 3 HG02083.hp2
HG02559.hp1
HG03516.hp1
HG02083.hp2
HG02559.hp1
HG03516.hp1
 intron_variant MODIFIER c.1420-110C>G
c.1420-110C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 22/53 chr12 47986553
chr12:47986556 G
G
 A
A
 1 a0002c0001t0010g0090
a0002c0001t0010g0090
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.1420-113C>T
c.1420-113C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 22/53 chr12 47986556
chr12:47986556 G
G
 T
T
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.1420-113C>A
c.1420-113C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 22/53 chr12 47986556
chr12:47986899 G
G
 A
A
 61 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(58): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0135
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0030t0002g0100
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0173
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 98 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(95): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA18997.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1366-11C>T
c.1366-11C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 21/53 chr12 47986899
chr12:47986901 G
G
 T
T
 1 a0001c0003t0001g0235
a0001c0003t0001g0235
 1 HG01346.hp1
HG01346.hp1
 intron_variant MODIFIER c.1366-13C>A
c.1366-13C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 21/53 chr12 47986901
chr12:47986967 C
C
 T
T
 1 a0002c0001t0002g0092
a0002c0001t0002g0092
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1366-79G>A
c.1366-79G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 21/53 chr12 47986967
chr12:47986982 G
G
 A
A
 1 a0001c0004t0001g0252
a0001c0004t0001g0252
 1 NA18943.hp2
NA18943.hp2
 intron_variant MODIFIER c.1366-94C>T
c.1366-94C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 21/53 chr12 47986982
chr12:47987031 GACTCCAG
others(7): Show 
GACTCCAGAGATGTC
 G
G
 1 a0001c0003t0001g0184
a0001c0003t0001g0184
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1365+33_1365+46del
others(14): Show 
c.1365+33_1365+46delGACATCTCTGGAGT
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 21/53 chr12 47987031
chr12:47987249 AG
AG
 A
A
 3 a0001c0004t0001g0023
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0023
a0001c0004t0001g0218
a0001c0004t0001g0219
 5 NA18952.hp1
NA18985.hp1
NA18999.hp1
others(2): Show 
NA18952.hp1
NA18985.hp1
NA18999.hp1
NA19003.hp1
NA19057.hp1
 intron_variant MODIFIER c.1266+19delC
c.1266+19delC
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 20/53 chr12 47987249
chr12:47987262 C
C
 T
T
 3 a0001c0002t0001g0039
a0001c0002t0001g0164
a0001c0002t0001g0174
a0001c0002t0001g0039
a0001c0002t0001g0164
a0001c0002t0001g0174
 4 HG00323.hp1
HG03704.hp1
HG03942.hp1
others(1): Show 
HG00323.hp1
HG03704.hp1
HG03942.hp1
NA20752.hp1
 splice_region_variant&intron_variant LOW c.1266+7G>A
c.1266+7G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 20/53 chr12 47987262
chr12:47987591 C
C
 G
G
 2 a0010c0052t0001g0193
a0013c0035t0002g0059
a0010c0052t0001g0193
a0013c0035t0002g0059
 2 HG03209.hp1
NA18522.hp1
HG03209.hp1
NA18522.hp1
 intron_variant MODIFIER c.1221+20G>C
c.1221+20G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 19/53 chr12 47987591
chr12:47987865 C
C
 T
T
 1 a0001c0027t0001g0185
a0001c0027t0001g0185
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1123-156G>A
c.1123-156G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47987865
chr12:47987870 C
C
 T
T
 3 a0001c0003t0001g0228
a0001c0027t0001g0229
a0003c0032t0001g0114
a0001c0003t0001g0228
a0001c0027t0001g0229
a0003c0032t0001g0114
 3 HG01884.hp2
HG02559.hp1
HG03516.hp1
HG01884.hp2
HG02559.hp1
HG03516.hp1
 intron_variant MODIFIER c.1123-161G>A
c.1123-161G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47987870
chr12:47987928 T
T
 C
C
 1 a0002c0001t0002g0091
a0002c0001t0002g0091
 1 HG01993.hp1
HG01993.hp1
 intron_variant MODIFIER c.1123-219A>G
c.1123-219A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47987928
chr12:47987965 C
C
 T
T
 1 a0016c0029t0002g0058
a0016c0029t0002g0058
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.1123-256G>A
c.1123-256G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47987965
chr12:47987973 G
G
 C
C
 65 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(62): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0007g0021
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0038t0001g0143
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0030t0002g0100
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0173
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 104 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(101): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02258.hp1
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02622.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02886.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA18997.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1123-264C>G
c.1123-264C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47987973
chr12:47988044 G
G
 A
A
 5 a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
others(2): Show 
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0003c0021t0002g0066
 6 HG01167.hp2
HG02145.hp2
HG02818.hp1
others(3): Show 
HG01167.hp2
HG02145.hp2
HG02818.hp1
HG02886.hp2
HG03139.hp1
HG03486.hp2
 intron_variant MODIFIER c.1123-335C>T
c.1123-335C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988044
chr12:47988050 G
G
 T
T
 1 a0002c0001t0002g0078
a0002c0001t0002g0078
 1 NA19085.hp2
NA19085.hp2
 intron_variant MODIFIER c.1123-341C>A
c.1123-341C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988050
chr12:47988192 G
G
 A
A
 4 a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
others(1): Show 
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
 5 HG02257.hp1
HG02809.hp1
HG02896.hp2
others(2): Show 
HG02257.hp1
HG02809.hp1
HG02896.hp2
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.1123-483C>T
c.1123-483C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988192
chr12:47988313 G
G
 A
A
 5 a0001c0003t0001g0228
a0001c0027t0001g0185
a0001c0027t0001g0229
others(2): Show 
a0001c0003t0001g0228
a0001c0027t0001g0185
a0001c0027t0001g0229
a0003c0032t0001g0114
a0011c0045t0001g0268
 5 HG01884.hp2
HG02559.hp1
HG02895.hp2
others(2): Show 
HG01884.hp2
HG02559.hp1
HG02895.hp2
HG03516.hp1
NA19043.hp1
 intron_variant MODIFIER c.1123-604C>T
c.1123-604C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988313
chr12:47988317 G
G
 A
A
 14 a0001c0002t0001g0039
a0001c0002t0001g0164
a0001c0002t0001g0165
others(11): Show 
a0001c0002t0001g0039
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0174
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
 17 HG00323.hp1
HG00408.hp1
HG01433.hp1
others(14): Show 
HG00323.hp1
HG00408.hp1
HG01433.hp1
HG02602.hp1
HG03704.hp1
HG03710.hp1
HG03942.hp1
NA18966.hp1
NA18979.hp2
NA18981.hp2
NA18983.hp1
NA18997.hp1
NA19005.hp2
NA19009.hp1
NA19011.hp2
NA19086.hp1
NA20752.hp1
 intron_variant MODIFIER c.1123-608C>T
c.1123-608C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988317
chr12:47988429 G
G
 A
A
 1 a0001c0027t0001g0229
a0001c0027t0001g0229
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.1123-720C>T
c.1123-720C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988429
chr12:47988499 A
A
 C
C
 138 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(135): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0217
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 220 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(217): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1122+729T>G
c.1122+729T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988499
chr12:47988674 A
A
 G
G
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1122+554T>C
c.1122+554T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988674
chr12:47988694 G
G
 T
T
 60 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(57): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0030t0002g0100
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0173
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 97 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(94): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA18997.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1122+534C>A
c.1122+534C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988694
chr12:47988790 G
G
 C
C
 35 a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
others(32): Show 
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0011g0242
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0241
a0001c0004t0001g0266
a0001c0040t0001g0247
a0001c0046t0001g0132
a0003c0005t0002g0110
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
 45 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(42): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18955.hp1
NA18978.hp2
NA19004.hp1
NA19060.hp2
NA19077.hp2
NA19079.hp2
NA19081.hp1
NA19083.hp2
NA19085.hp1
NA19091.hp2
 intron_variant MODIFIER c.1122+438C>G
c.1122+438C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988790
chr12:47988815 C
C
 T
T
 4 a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
others(1): Show 
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0010c0052t0001g0193
 4 HG02922.hp1
HG02970.hp1
HG03209.hp1
others(1): Show 
HG02922.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.1122+413G>A
c.1122+413G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988815
chr12:47988860 G
G
 A
A
 1 a0001c0004t0001g0227
a0001c0004t0001g0227
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.1122+368C>T
c.1122+368C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988860
chr12:47988940 T
T
 G
G
 1 a0001c0004t0001g0046
a0001c0004t0001g0046
 2 HG00639.hp2
HG03669.hp2
HG00639.hp2
HG03669.hp2
 intron_variant MODIFIER c.1122+288A>C
c.1122+288A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47988940
chr12:47989145 T
T
 C
C
 1 a0002c0001t0002g0092
a0002c0001t0002g0092
 1 HG02293.hp1
HG02293.hp1
 intron_variant MODIFIER c.1122+83A>G
c.1122+83A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 18/53 chr12 47989145
chr12:47989338 G
G
 A
A
 1 a0011c0045t0001g0268
a0011c0045t0001g0268
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.1069-57C>T
c.1069-57C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 17/53 chr12 47989338
chr12:47989452 A
A
 G
G
 137 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(134): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0217
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 219 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(216): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1069-171T>C
c.1069-171T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 17/53 chr12 47989452
chr12:47989502 G
G
 A
A
 2 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0019t0001g0034
a0003c0019t0001g0113
 3 HG02809.hp1
HG03486.hp1
NA19240.hp1
HG02809.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.1069-221C>T
c.1069-221C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 17/53 chr12 47989502
chr12:47989519 T
T
 C
C
 1 a0001c0002t0001g0171
a0001c0002t0001g0171
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.1069-238A>G
c.1069-238A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 17/53 chr12 47989519
chr12:47989605 T
T
 C
C
 1 a0003c0005t0002g0093
a0003c0005t0002g0093
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1068+156A>G
c.1068+156A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 17/53 chr12 47989605
chr12:47989710 C
C
 T
T
 4 a0001c0003t0001g0010
a0001c0003t0001g0190
a0001c0003t0001g0203
others(1): Show 
a0001c0003t0001g0010
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0008t0001g0202
 7 HG02280.hp1
HG02895.hp1
HG02896.hp1
others(4): Show 
HG02280.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG03130.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.1068+51G>A
c.1068+51G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 17/53 chr12 47989710
chr12:47989835 G
G
 A
A
 1 a0003c0012t0002g0071
a0003c0012t0002g0071
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.1024-30C>T
c.1024-30C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47989835
chr12:47989855 G
G
 A
A
 1 a0013c0035t0002g0059
a0013c0035t0002g0059
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1024-50C>T
c.1024-50C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47989855
chr12:47989914 C
C
 A
A
 1 a0001c0003t0001g0249
a0001c0003t0001g0249
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.1024-109G>T
c.1024-109G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47989914
chr12:47990006 CT
CT
 C
C
 145 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(142): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0217
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 229 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(226): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1024-202delA
c.1024-202delA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990006
chr12:47990014 G
G
 T
T
 42 a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
others(39): Show 
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0011g0242
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0241
a0001c0004t0001g0266
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0040t0001g0247
a0001c0046t0001g0132
a0003c0005t0002g0110
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0021t0002g0066
a0003c0032t0001g0114
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
a0011c0045t0001g0268
 52 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(49): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01884.hp2
HG01952.hp1
HG01978.hp2
HG02109.hp1
HG02145.hp2
HG02257.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02615.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG03017.hp2
HG03139.hp1
HG03239.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18955.hp1
NA19043.hp1
NA19077.hp2
NA19081.hp1
NA19091.hp2
NA19240.hp1
 intron_variant MODIFIER c.1024-209C>A
c.1024-209C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990014
chr12:47990026 G
G
 T
T
 4 a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
others(1): Show 
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0010c0052t0001g0193
 4 HG02922.hp1
HG02970.hp1
HG03209.hp1
others(1): Show 
HG02922.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.1024-221C>A
c.1024-221C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990026
chr12:47990031 G
G
 A
A
 28 a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
others(25): Show 
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0011g0242
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0241
a0001c0004t0001g0266
a0001c0040t0001g0247
a0001c0046t0001g0132
a0003c0005t0002g0110
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
 36 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(33): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp1
HG01978.hp2
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02723.hp1
HG02735.hp2
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18955.hp1
NA19077.hp2
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.1024-226C>T
c.1024-226C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990031
chr12:47990069 C
C
 T
T
 1 a0013c0035t0002g0059
a0013c0035t0002g0059
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1024-264G>A
c.1024-264G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990069
chr12:47990170 T
T
 A
A
 145 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(142): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0217
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 229 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(226): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1024-365A>T
c.1024-365A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990170
chr12:47990339 T
T
 C
C
 145 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(142): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0217
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 229 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(226): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1024-534A>G
c.1024-534A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990339
chr12:47990653 C
C
 T
T
 61 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(58): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0030t0002g0100
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0173
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
a0013c0035t0002g0059
 98 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(95): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA18997.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.1024-848G>A
c.1024-848G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990653
chr12:47990665 CA
CA
 C
C
 4 a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
others(1): Show 
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0010c0052t0001g0193
 4 HG02922.hp1
HG02970.hp1
HG03209.hp1
others(1): Show 
HG02922.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.1024-861delT
c.1024-861delT
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990665
chr12:47990721 G
G
 T
T
 1 a0001c0002t0001g0155
a0001c0002t0001g0155
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.1024-916C>A
c.1024-916C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990721
chr12:47990742 G
G
 A
A
 5 a0003c0005t0001g0127
a0003c0013t0001g0035
a0003c0013t0001g0119
others(2): Show 
a0003c0005t0001g0127
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
 6 HG00408.hp1
NA18966.hp1
NA18997.hp1
others(3): Show 
HG00408.hp1
NA18966.hp1
NA18997.hp1
NA19005.hp2
NA19009.hp1
NA19011.hp2
 intron_variant MODIFIER c.1024-937C>T
c.1024-937C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990742
chr12:47990771 T
T
 C
C
 1 a0003c0016t0002g0094
a0003c0016t0002g0094
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.1024-966A>G
c.1024-966A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990771
chr12:47990797 A
A
 G
G
 3 a0001c0003t0001g0041
a0001c0003t0001g0231
a0001c0039t0001g0197
a0001c0003t0001g0041
a0001c0003t0001g0231
a0001c0039t0001g0197
 4 HG02630.hp1
HG03195.hp1
HG03540.hp2
others(1): Show 
HG02630.hp1
HG03195.hp1
HG03540.hp2
HG06807.hp2
 intron_variant MODIFIER c.1024-992T>C
c.1024-992T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990797
chr12:47990932 C
C
 G
G
 1 a0001c0027t0001g0185
a0001c0027t0001g0185
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.1024-1127G>C
c.1024-1127G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47990932
chr12:47991039 A
A
 T
T
 1 a0001c0004t0001g0255
a0001c0004t0001g0255
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.1024-1234T>A
c.1024-1234T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991039
chr12:47991062 G
G
 A
A
 3 a0003c0012t0002g0029
a0009c0022t0008g0076
a0009c0022t0008g0102
a0003c0012t0002g0029
a0009c0022t0008g0076
a0009c0022t0008g0102
 4 HG02602.hp2
HG03688.hp2
NA18942.hp2
others(1): Show 
HG02602.hp2
HG03688.hp2
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.1024-1257C>T
c.1024-1257C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991062
chr12:47991133 C
C
 T
T
 6 a0001c0003t0001g0228
a0001c0027t0001g0185
a0001c0027t0001g0229
others(3): Show 
a0001c0003t0001g0228
a0001c0027t0001g0185
a0001c0027t0001g0229
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0032t0001g0114
 6 HG01884.hp2
HG02257.hp1
HG02559.hp1
others(3): Show 
HG01884.hp2
HG02257.hp1
HG02559.hp1
HG02896.hp2
HG03516.hp1
NA19043.hp1
 intron_variant MODIFIER c.1024-1328G>A
c.1024-1328G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991133
chr12:47991161 A
A
 T
T
 187 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(184): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 281 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(278): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1024-1356T>A
c.1024-1356T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991161
chr12:47991346 C
C
 T
T
 1 a0005c0011t0001g0179
a0005c0011t0001g0179
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.1023+1532G>A
c.1023+1532G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991346
chr12:47991793 A
A
 G
G
 192 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(189): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 286 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(283): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1023+1085T>C
c.1023+1085T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991793
chr12:47991839 GCTCTCTA
others(5): Show 
GCTCTCTAATCCC
 G
G
 2 a0004c0010t0001g0050
a0004c0010t0001g0224
a0004c0010t0001g0050
a0004c0010t0001g0224
 3 NA19010.hp1
NA19055.hp1
NA19083.hp1
NA19010.hp1
NA19055.hp1
NA19083.hp1
 intron_variant MODIFIER c.1023+1027_1023+103
others(16): Show 
c.1023+1027_1023+1038delGGGATTAGAGAG
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991839
chr12:47991903 A
A
 AG
AG
 22 a0001c0002t0001g0250
a0001c0003t0001g0025
a0001c0003t0001g0253
others(19): Show 
a0001c0002t0001g0250
a0001c0003t0001g0025
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0004t0001g0012
a0001c0004t0001g0137
a0001c0004t0001g0210
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0048t0001g0260
a0004c0007t0001g0024
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
 29 HG00423.hp2
HG00544.hp1
HG00738.hp2
others(26): Show 
HG00423.hp2
HG00544.hp1
HG00738.hp2
HG01496.hp1
HG01928.hp2
HG02004.hp1
HG02071.hp2
HG02132.hp1
HG02135.hp1
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18941.hp1
NA18943.hp2
NA18957.hp1
NA18962.hp1
NA18962.hp2
NA18978.hp2
NA18987.hp2
NA19004.hp1
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19063.hp2
NA19070.hp2
NA19079.hp2
NA19083.hp2
NA19085.hp1
NA20905.hp2
 intron_variant MODIFIER c.1023+974dupC
c.1023+974dupC
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991903
chr12:47991906 G
G
 T
T
 1 a0004c0007t0001g0248
a0004c0007t0001g0248
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1023+972C>A
c.1023+972C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991906
chr12:47991912 G
G
 A
A
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1023+966C>T
c.1023+966C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47991912
chr12:47992088 A
A
 G
G
 5 a0001c0003t0001g0228
a0001c0027t0001g0229
a0003c0016t0001g0115
others(2): Show 
a0001c0003t0001g0228
a0001c0027t0001g0229
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0032t0001g0114
 5 HG01884.hp2
HG02257.hp1
HG02559.hp1
others(2): Show 
HG01884.hp2
HG02257.hp1
HG02559.hp1
HG02896.hp2
HG03516.hp1
 intron_variant MODIFIER c.1023+790T>C
c.1023+790T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992088
chr12:47992112 T
T
 A
A
 2 a0002c0001t0002g0072
a0002c0001t0002g0095
a0002c0001t0002g0072
a0002c0001t0002g0095
 2 NA18953.hp2
NA18968.hp2
NA18953.hp2
NA18968.hp2
 intron_variant MODIFIER c.1023+766A>T
c.1023+766A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992112
chr12:47992123 G
G
 A
A
 1 a0003c0023t0002g0027
a0003c0023t0002g0027
 2 NA19030.hp2
NA19043.hp2
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.1023+755C>T
c.1023+755C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992123
chr12:47992162 A
A
 G
G
 188 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(185): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 282 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(279): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1023+716T>C
c.1023+716T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992162
chr12:47992277 T
T
 C
C
 148 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(145): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 233 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(230): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1023+601A>G
c.1023+601A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992277
chr12:47992378 T
T
 C
C
 1 a0004c0007t0001g0248
a0004c0007t0001g0248
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1023+500A>G
c.1023+500A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992378
chr12:47992458 A
A
 G
G
 173 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(170): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 264 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(261): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1023+420T>C
c.1023+420T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992458
chr12:47992549 C
C
 A
A
 1 a0001c0003t0003g0196
a0001c0003t0003g0196
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.1023+329G>T
c.1023+329G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992549
chr12:47992673 C
C
 G
G
 1 a0003c0009t0002g0104
a0003c0009t0002g0104
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1023+205G>C
c.1023+205G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992673
chr12:47992677 C
C
 T
T
 1 a0003c0013t0001g0125
a0003c0013t0001g0125
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.1023+201G>A
c.1023+201G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992677
chr12:47992770 A
A
 G
G
 173 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(170): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 264 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(261): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1023+108T>C
c.1023+108T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992770
chr12:47992785 C
C
 T
T
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.1023+93G>A
c.1023+93G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992785
chr12:47992794 G
G
 T
T
 173 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(170): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 264 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(261): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.1023+84C>A
c.1023+84C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 16/53 chr12 47992794
chr12:47992938 C
C
 T
T
 1 a0002c0001t0002g0108
a0002c0001t0002g0108
 1 NA18986.hp1
NA18986.hp1
 splice_region_variant&intron_variant LOW c.970-7G>A
c.970-7G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 15/53 chr12 47992938
chr12:47992991 A
A
 C
C
 1 a0008c0024t0002g0077
a0008c0024t0002g0077
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.970-60T>G
c.970-60T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 15/53 chr12 47992991
chr12:47993136 A
A
 G
G
 60 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(57): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0030t0002g0100
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0173
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
a0013c0035t0002g0059
 97 HG00140.hp1
HG00323.hp1
HG00408.hp1
others(94): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00438.hp1
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01978.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02300.hp1
HG02486.hp1
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA18997.hp1
NA19005.hp2
NA19009.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.970-205T>C
c.970-205T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 15/53 chr12 47993136
chr12:47993242 T
T
 A
A
 173 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(170): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 264 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(261): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+216A>T
c.969+216A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 15/53 chr12 47993242
chr12:47993269 A
A
 C
C
 173 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(170): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 264 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(261): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+189T>G
c.969+189T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 15/53 chr12 47993269
chr12:47993274 G
G
 C
C
 146 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(143): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0001g0127
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0030t0002g0100
a0004c0007t0001g0024
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0173
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0012c0036t0001g0153
a0013c0035t0002g0059
 230 HG00140.hp1
HG00140.hp2
HG00280.hp2
others(227): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02004.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp2
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03492.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.969+184C>G
c.969+184C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 15/53 chr12 47993274
chr12:47993322 T
T
 C
C
 1 a0001c0003t0001g0246
a0001c0003t0001g0246
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.969+136A>G
c.969+136A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 15/53 chr12 47993322
chr12:47993551 G
G
 T
T
 1 a0013c0035t0002g0059
a0013c0035t0002g0059
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.925-49C>A
c.925-49C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 14/53 chr12 47993551
chr12:47993668 C
C
 T
T
 1 a0001c0002t0001g0154
a0001c0002t0001g0154
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.924+141G>A
c.924+141G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 14/53 chr12 47993668
chr12:47993908 A
A
 G
G
 1 a0001c0043t0001g0183
a0001c0043t0001g0183
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.871-46T>C
c.871-46T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 13/53 chr12 47993908
chr12:47993931 C
C
 G
G
 1 a0001c0004t0001g0266
a0001c0004t0001g0266
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.870+63G>C
c.870+63G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 13/53 chr12 47993931
chr12:47993972 C
C
 A
A
 1 a0001c0004t0001g0266
a0001c0004t0001g0266
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.870+22G>T
c.870+22G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 13/53 chr12 47993972
chr12:47994176 G
G
 T
T
 2 a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0135
a0001c0003t0001g0184
 2 HG02622.hp1
HG02886.hp1
HG02622.hp1
HG02886.hp1
 intron_variant MODIFIER c.817-129C>A
c.817-129C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 12/53 chr12 47994176
chr12:47994319 G
G
 A
A
 13 a0001c0004t0001g0226
a0001c0014t0001g0043
a0001c0014t0001g0191
others(10): Show 
a0001c0004t0001g0226
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0042t0001g0186
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0021t0002g0066
a0003c0030t0002g0100
 16 HG00741.hp1
HG01167.hp2
HG01346.hp2
others(13): Show 
HG00741.hp1
HG01167.hp2
HG01346.hp2
HG01891.hp1
HG02055.hp1
HG02145.hp2
HG02717.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG03098.hp1
HG03139.hp1
HG03225.hp2
HG03486.hp2
HG03579.hp1
NA18522.hp2
 intron_variant MODIFIER c.816+105C>T
c.816+105C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 12/53 chr12 47994319
chr12:47994367 G
G
 A
A
 2 a0003c0009t0002g0028
a0003c0009t0002g0104
a0003c0009t0002g0028
a0003c0009t0002g0104
 3 HG01346.hp2
HG03098.hp1
HG03579.hp1
HG01346.hp2
HG03098.hp1
HG03579.hp1
 intron_variant MODIFIER c.816+57C>T
c.816+57C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 12/53 chr12 47994367
chr12:47994385 C
C
 A
A
 1 a0001c0040t0001g0247
a0001c0040t0001g0247
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.816+39G>T
c.816+39G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 12/53 chr12 47994385
chr12:47994699 C
C
 T
T
 13 a0001c0003t0001g0209
a0001c0006t0001g0003
a0001c0006t0001g0042
others(10): Show 
a0001c0003t0001g0209
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0015t0001g0047
a0007c0028t0001g0044
 28 HG00621.hp1
HG02040.hp1
HG02074.hp1
others(25): Show 
HG00621.hp1
HG02040.hp1
HG02074.hp1
HG02129.hp2
NA18612.hp1
NA18747.hp2
NA18940.hp2
NA18950.hp2
NA18953.hp1
NA18959.hp1
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18980.hp2
NA18986.hp2
NA18994.hp2
NA18998.hp1
NA19001.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19065.hp2
NA19066.hp1
NA19087.hp1
NA19090.hp1
 intron_variant MODIFIER c.763-222G>A
c.763-222G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47994699
chr12:47994709 A
A
 G
G
 1 a0001c0002t0001g0055
a0001c0002t0001g0055
 2 HG00673.hp1
NA18971.hp2
HG00673.hp1
NA18971.hp2
 intron_variant MODIFIER c.763-232T>C
c.763-232T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47994709
chr12:47994829 T
T
 C
C
 106 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(103): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0241
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0030t0002g0100
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0010c0052t0001g0193
a0012c0036t0001g0153
a0013c0035t0002g0059
 156 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(153): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02922.hp1
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.763-352A>G
c.763-352A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47994829
chr12:47994846 C
C
 T
T
 3 a0003c0012t0002g0029
a0009c0022t0008g0076
a0009c0022t0008g0102
a0003c0012t0002g0029
a0009c0022t0008g0076
a0009c0022t0008g0102
 4 HG02602.hp2
HG03688.hp2
NA18942.hp2
others(1): Show 
HG02602.hp2
HG03688.hp2
NA18942.hp2
NA19057.hp2
 intron_variant MODIFIER c.763-369G>A
c.763-369G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47994846
chr12:47994847 G
G
 T
T
 5 a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0003g0152
others(2): Show 
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
 7 HG02486.hp1
HG02809.hp2
HG02976.hp1
others(4): Show 
HG02486.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp1
NA19030.hp1
 intron_variant MODIFIER c.763-370C>A
c.763-370C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47994847
chr12:47995047 C
C
 T
T
 101 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(98): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0241
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0030t0002g0100
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
a0013c0035t0002g0059
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.762+208G>A
c.762+208G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47995047
chr12:47995073 A
A
 C
C
 101 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(98): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0241
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0030t0002g0100
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
a0013c0035t0002g0059
 150 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(147): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.762+182T>G
c.762+182T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47995073
chr12:47995212 TC
TC
 T
T
 65 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(62): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0030t0002g0100
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 105 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(102): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.762+42delG
c.762+42delG
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47995212
chr12:47995240 C
C
 T
T
 25 a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
others(22): Show 
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0011g0242
a0001c0004t0001g0241
a0001c0040t0001g0247
a0001c0046t0001g0132
a0003c0005t0002g0110
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
 31 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(28): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp1
HG01978.hp2
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02735.hp2
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.762+15G>A
c.762+15G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 11/53 chr12 47995240
chr12:47995376 T
T
 C
C
 1 a0001c0002t0001g0148
a0001c0002t0001g0148
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.709-68A>G
c.709-68A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 10/53 chr12 47995376
chr12:47995449 G
G
 C
C
 1 a0001c0042t0001g0186
a0001c0042t0001g0186
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.709-141C>G
c.709-141C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 10/53 chr12 47995449
chr12:47995462 C
C
 T
T
 55 a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0188
others(52): Show 
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0231
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0052
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0234
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0015t0001g0047
a0006c0044t0004g0215
a0007c0028t0001g0044
 89 HG00140.hp2
HG00280.hp2
HG00621.hp1
others(86): Show 
HG00140.hp2
HG00280.hp2
HG00621.hp1
HG00639.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG02040.hp1
HG02074.hp1
HG02129.hp2
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp2
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18979.hp2
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19065.hp2
NA19066.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.709-154G>A
c.709-154G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 10/53 chr12 47995462
chr12:47995470 A
A
 T
T
 1 a0002c0001t0002g0075
a0002c0001t0002g0075
 1 NA18997.hp2
NA18997.hp2
 intron_variant MODIFIER c.709-162T>A
c.709-162T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 10/53 chr12 47995470
chr12:47995550 C
C
 G
G
 42 a0001c0003t0001g0209
a0001c0004t0001g0011
a0001c0004t0001g0022
others(39): Show 
a0001c0003t0001g0209
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0052
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0234
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0041t0001g0212
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0015t0001g0047
a0006c0044t0004g0215
a0007c0028t0001g0044
 71 HG00140.hp2
HG00280.hp2
HG00621.hp1
others(68): Show 
HG00140.hp2
HG00280.hp2
HG00621.hp1
HG00639.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG02040.hp1
HG02074.hp1
HG02129.hp2
HG02257.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02683.hp1
HG02698.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03239.hp2
HG03471.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18979.hp2
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19065.hp2
NA19066.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.708+160G>C
c.708+160G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 10/53 chr12 47995550
chr12:47995702 G
G
 A
A
 3 a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0051t0001g0205
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0051t0001g0205
 3 HG02622.hp2
HG02970.hp2
HG03041.hp1
HG02622.hp2
HG02970.hp2
HG03041.hp1
 splice_region_variant&intron_variant LOW c.708+8C>T
c.708+8C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 10/53 chr12 47995702
chr12:47995839 G
G
 A
A
 1 a0001c0002t0001g0039
a0001c0002t0001g0039
 2 HG03704.hp1
HG03942.hp1
HG03704.hp1
HG03942.hp1
 intron_variant MODIFIER c.654+36C>T
c.654+36C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 9/53 chr12 47995839
chr12:47995860 A
A
 C
C
 172 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(169): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0003c0030t0002g0100
a0003c0032t0001g0114
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 258 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(255): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19077.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19084.hp2
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.654+15T>G
c.654+15T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 9/53 chr12 47995860
chr12:47995926 C
C
 T
T
 3 a0001c0003t0007g0021
a0001c0027t0001g0185
a0002c0001t0001g0121
a0001c0003t0007g0021
a0001c0027t0001g0185
a0002c0001t0001g0121
 5 HG00280.hp1
HG03516.hp2
HG03540.hp1
others(2): Show 
HG00280.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
NA19043.hp1
 splice_region_variant&intron_variant LOW c.610-7G>A
c.610-7G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 8/53 chr12 47995926
chr12:47995953 A
A
 G
G
 5 a0001c0002t0001g0020
a0001c0002t0001g0149
a0001c0002t0001g0171
others(2): Show 
a0001c0002t0001g0020
a0001c0002t0001g0149
a0001c0002t0001g0171
a0001c0002t0001g0175
a0001c0002t0001g0180
 7 HG00597.hp1
HG02132.hp2
HG02523.hp2
others(4): Show 
HG00597.hp1
HG02132.hp2
HG02523.hp2
NA18612.hp2
NA18948.hp1
NA18959.hp2
NA18980.hp1
 intron_variant MODIFIER c.610-34T>C
c.610-34T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 8/53 chr12 47995953
chr12:47995976 G
G
 A
A
 1 a0003c0012t0002g0096
a0003c0012t0002g0096
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.610-57C>T
c.610-57C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 8/53 chr12 47995976
chr12:47996201 C
C
 T
T
 1 a0001c0003t0001g0228
a0001c0003t0001g0228
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.610-282G>A
c.610-282G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 8/53 chr12 47996201
chr12:47996297 T
T
 C
C
 265 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(262): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0001g0016
a0002c0001t0001g0117
a0002c0001t0001g0118
a0002c0001t0001g0121
a0002c0001t0001g0122
a0002c0001t0001g0123
a0002c0001t0001g0124
a0002c0001t0002g0001
a0002c0001t0002g0004
a0002c0001t0002g0015
a0002c0001t0002g0063
a0002c0001t0002g0069
a0002c0001t0002g0072
a0002c0001t0002g0075
a0002c0001t0002g0078
a0002c0001t0002g0080
a0002c0001t0002g0083
a0002c0001t0002g0086
a0002c0001t0002g0089
a0002c0001t0002g0091
a0002c0001t0002g0092
a0002c0001t0002g0095
a0002c0001t0002g0097
a0002c0001t0002g0103
a0002c0001t0002g0105
a0002c0001t0002g0107
a0002c0001t0002g0108
a0002c0001t0002g0109
a0002c0001t0002g0111
a0002c0001t0005g0013
a0002c0001t0010g0090
a0002c0025t0002g0031
a0003c0005t0001g0127
a0003c0005t0002g0014
a0003c0005t0002g0026
a0003c0005t0002g0030
a0003c0005t0002g0033
a0003c0005t0002g0065
a0003c0005t0002g0068
a0003c0005t0002g0087
a0003c0005t0002g0093
a0003c0005t0002g0098
a0003c0005t0002g0099
a0003c0005t0002g0110
a0003c0005t0002g0112
a0003c0005t0009g0061
a0003c0005t0009g0106
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0012t0002g0029
a0003c0012t0002g0064
a0003c0012t0002g0070
a0003c0012t0002g0071
a0003c0012t0002g0096
a0003c0013t0001g0035
a0003c0013t0001g0119
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0016t0002g0081
a0003c0016t0002g0094
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0020t0002g0079
a0003c0021t0002g0062
a0003c0021t0002g0066
a0003c0023t0002g0027
a0003c0030t0002g0100
a0003c0031t0002g0067
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0008c0024t0002g0077
a0008c0024t0002g0085
a0009c0022t0008g0076
a0009c0022t0008g0102
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
a0014c0034t0002g0084
a0015c0033t0002g0082
a0016c0029t0002g0058
 408 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(405): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp1
NA19068.hp2
NA19070.hp1
NA19070.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.609+251A>G
c.609+251A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 8/53 chr12 47996297
chr12:47996433 C
C
 T
T
 2 a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0016t0001g0115
a0003c0016t0001g0116
 2 HG02257.hp1
HG02896.hp2
HG02257.hp1
HG02896.hp2
 intron_variant MODIFIER c.609+115G>A
c.609+115G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 8/53 chr12 47996433
chr12:47996652 A
A
 T
T
 3 a0001c0003t0001g0236
a0001c0003t0001g0237
a0004c0007t0001g0238
a0001c0003t0001g0236
a0001c0003t0001g0237
a0004c0007t0001g0238
 3 HG00099.hp2
HG01168.hp2
HG02615.hp2
HG00099.hp2
HG01168.hp2
HG02615.hp2
 intron_variant MODIFIER c.532-27T>A
c.532-27T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47996652
chr12:47996802 T
T
 A
A
 65 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(62): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0030t0002g0100
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 105 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(102): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.532-177A>T
c.532-177A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47996802
chr12:47996907 A
A
 T
T
 1 a0001c0043t0001g0183
a0001c0043t0001g0183
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.532-282T>A
c.532-282T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47996907
chr12:47996939 A
A
 G
G
 106 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(103): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0241
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0030t0002g0100
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
a0013c0035t0002g0059
 156 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(153): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.532-314T>C
c.532-314T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47996939
chr12:47996952 C
C
 T
T
 1 a0001c0008t0001g0198
a0001c0008t0001g0198
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.532-327G>A
c.532-327G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47996952
chr12:47997054 G
G
 C
C
 1 a0001c0002t0001g0170
a0001c0002t0001g0170
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.532-429C>G
c.532-429C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997054
chr12:47997056 T
T
 G
G
 106 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(103): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0241
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0030t0002g0100
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
a0013c0035t0002g0059
 156 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(153): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.532-431A>C
c.532-431A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997056
chr12:47997155 A
A
 T
T
 1 a0001c0039t0001g0197
a0001c0039t0001g0197
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.531+451T>A
c.531+451T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997155
chr12:47997184 G
G
 T
T
 1 a0013c0035t0002g0059
a0013c0035t0002g0059
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.531+422C>A
c.531+422C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997184
chr12:47997271 C
C
 T
T
 1 a0001c0002t0001g0148
a0001c0002t0001g0148
 1 HG01255.hp2
HG01255.hp2
 intron_variant MODIFIER c.531+335G>A
c.531+335G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997271
chr12:47997272 G
G
 A
A
 28 a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
others(25): Show 
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0011g0242
a0001c0004t0001g0241
a0001c0040t0001g0247
a0001c0046t0001g0132
a0001c0047t0001g0192
a0003c0005t0002g0110
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
 34 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(31): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp1
HG01978.hp2
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02735.hp2
HG02886.hp1
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.531+334C>T
c.531+334C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997272
chr12:47997311 C
C
 T
T
 66 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(63): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0030t0002g0100
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
a0013c0035t0002g0059
 106 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(103): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.531+295G>A
c.531+295G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997311
chr12:47997344 C
C
 T
T
 65 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(62): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0009t0002g0028
a0003c0009t0002g0032
a0003c0009t0002g0073
a0003c0009t0002g0101
a0003c0009t0002g0104
a0003c0030t0002g0100
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 105 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(102): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02698.hp1
HG02717.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03225.hp2
HG03471.hp1
HG03492.hp1
HG03579.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18522.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp2
NA18992.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.531+262G>A
c.531+262G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997344
chr12:47997416 G
G
 A
A
 1 a0001c0008t0001g0187
a0001c0008t0001g0187
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.531+190C>T
c.531+190C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 7/53 chr12 47997416
chr12:47997986 C
C
 T
T
 2 a0001c0003t0007g0021
a0001c0027t0001g0185
a0001c0003t0007g0021
a0001c0027t0001g0185
 4 HG03516.hp2
HG03540.hp1
HG03579.hp2
others(1): Show 
HG03516.hp2
HG03540.hp1
HG03579.hp2
NA19043.hp1
 intron_variant MODIFIER c.375+46G>A
c.375+46G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 5/53 chr12 47997986
chr12:47998218 T
T
 C
C
 1 a0004c0007t0001g0248
a0004c0007t0001g0248
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.310-17A>G
c.310-17A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 3/53 chr12 47998218
chr12:47998232 C
C
 T
T
 1 a0001c0043t0001g0183
a0001c0043t0001g0183
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.310-31G>A
c.310-31G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 3/53 chr12 47998232
chr12:47998360 G
G
 A
A
 1 a0002c0001t0002g0097
a0002c0001t0002g0097
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.309+55C>T
c.309+55C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 3/53 chr12 47998360
chr12:47998614 G
G
 A
A
 20 a0001c0003t0001g0025
a0001c0003t0001g0253
a0001c0003t0001g0262
others(17): Show 
a0001c0003t0001g0025
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0004t0001g0012
a0001c0004t0001g0137
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0048t0001g0260
a0004c0007t0001g0024
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
 27 HG00423.hp2
HG00544.hp1
HG00738.hp2
others(24): Show 
HG00423.hp2
HG00544.hp1
HG00738.hp2
HG01496.hp1
HG01928.hp2
HG02004.hp1
HG02132.hp1
HG02135.hp1
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18941.hp1
NA18943.hp2
NA18957.hp1
NA18962.hp1
NA18978.hp2
NA18987.hp2
NA19004.hp1
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19063.hp2
NA19070.hp2
NA19079.hp2
NA19083.hp2
NA19085.hp1
NA20905.hp2
 intron_variant MODIFIER c.293-183C>T
c.293-183C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998614
chr12:47998650 A
A
 G
G
 120 a0001c0002t0001g0250
a0001c0003t0001g0006
a0001c0003t0001g0010
others(117): Show 
a0001c0002t0001g0250
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0003c0005t0002g0110
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
 171 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(168): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18987.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.293-219T>C
c.293-219T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998650
chr12:47998695 G
G
 C
C
 21 a0001c0002t0001g0250
a0001c0003t0001g0025
a0001c0003t0001g0253
others(18): Show 
a0001c0002t0001g0250
a0001c0003t0001g0025
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0004t0001g0012
a0001c0004t0001g0137
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0048t0001g0260
a0004c0007t0001g0024
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
 28 HG00423.hp2
HG00544.hp1
HG00738.hp2
others(25): Show 
HG00423.hp2
HG00544.hp1
HG00738.hp2
HG01496.hp1
HG01928.hp2
HG02004.hp1
HG02071.hp2
HG02132.hp1
HG02135.hp1
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18941.hp1
NA18943.hp2
NA18957.hp1
NA18962.hp1
NA18978.hp2
NA18987.hp2
NA19004.hp1
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19063.hp2
NA19070.hp2
NA19079.hp2
NA19083.hp2
NA19085.hp1
NA20905.hp2
 intron_variant MODIFIER c.293-264C>G
c.293-264C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998695
chr12:47998696 G
G
 A
A
 1 a0001c0003t0001g0249
a0001c0003t0001g0249
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.293-265C>T
c.293-265C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998696
chr12:47998925 G
G
 A
A
 1 a0011c0045t0001g0268
a0011c0045t0001g0268
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.293-494C>T
c.293-494C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998925
chr12:47998931 T
T
 A
A
 1 a0001c0004t0001g0223
a0001c0004t0001g0223
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.293-500A>T
c.293-500A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998931
chr12:47998966 C
C
 T
T
 4 a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
others(1): Show 
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0010c0052t0001g0193
 4 HG02922.hp1
HG02970.hp1
HG03209.hp1
others(1): Show 
HG02922.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
 intron_variant MODIFIER c.293-535G>A
c.293-535G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998966
chr12:47998978 A
A
 G
G
 1 a0004c0017t0001g0147
a0004c0017t0001g0147
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.293-547T>C
c.293-547T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47998978
chr12:47999041 C
C
 G
G
 33 a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
others(30): Show 
a0001c0003t0001g0006
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0241
a0001c0027t0001g0185
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0047t0001g0192
a0003c0005t0002g0110
a0003c0019t0001g0034
a0003c0019t0001g0113
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
 42 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(39): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01952.hp1
HG01978.hp2
HG02109.hp1
HG02145.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02735.hp2
HG02809.hp1
HG02886.hp1
HG03017.hp2
HG03239.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA19043.hp1
NA19240.hp1
 intron_variant MODIFIER c.293-610G>C
c.293-610G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999041
chr12:47999080 A
A
 C
C
 1 a0003c0005t0002g0099
a0003c0005t0002g0099
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.293-649T>G
c.293-649T>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999080
chr12:47999131 C
C
 G
G
 188 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(185): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0002c0001t0002g0107
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
 279 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(276): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.293-700G>C
c.293-700G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999131
chr12:47999167 G
G
 A
A
 6 a0001c0003t0001g0228
a0001c0004t0001g0051
a0001c0004t0001g0226
others(3): Show 
a0001c0003t0001g0228
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0027t0001g0229
 7 HG02559.hp1
HG02647.hp2
HG02723.hp2
others(4): Show 
HG02559.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp2
HG03098.hp2
HG03139.hp2
HG03516.hp1
 intron_variant MODIFIER c.293-736C>T
c.293-736C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999167
chr12:47999192 A
A
 G
G
 1 a0003c0031t0002g0067
a0003c0031t0002g0067
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.292+727T>C
c.292+727T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999192
chr12:47999315 G
G
 A
A
 68 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(65): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0228
a0001c0004t0001g0051
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0229
a0001c0038t0001g0143
a0002c0001t0002g0107
a0003c0009t0001g0036
a0003c0009t0001g0120
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 107 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(104): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02647.hp2
HG02698.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03471.hp1
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19055.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19086.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.292+604C>T
c.292+604C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999315
chr12:47999323 G
G
 T
T
 187 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(184): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0002c0001t0002g0105
a0002c0001t0002g0107
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0021t0002g0066
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
 278 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(275): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.292+596C>A
c.292+596C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999323
chr12:47999352 T
T
 C
C
 1 a0001c0003t0001g0134
a0001c0003t0001g0134
 1 HG01978.hp2
HG01978.hp2
 intron_variant MODIFIER c.292+567A>G
c.292+567A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999352
chr12:47999354 C
C
 T
T
 128 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(125): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0012
a0001c0004t0001g0051
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0002c0001t0002g0107
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0011c0045t0001g0268
a0012c0036t0001g0153
 185 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(182): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18940.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19059.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.292+565G>A
c.292+565G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999354
chr12:47999537 G
G
 A
A
 127 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(124): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0012
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0226
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0002c0001t0002g0107
a0003c0005t0002g0110
a0003c0009t0001g0036
a0003c0009t0001g0120
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0011c0045t0001g0268
a0012c0036t0001g0153
 184 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(181): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18940.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19059.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19091.hp2
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.292+382C>T
c.292+382C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999537
chr12:47999568 T
T
 C
C
 2 a0003c0005t0002g0098
a0003c0005t0002g0112
a0003c0005t0002g0098
a0003c0005t0002g0112
 2 HG03453.hp2
NA18906.hp1
HG03453.hp2
NA18906.hp1
 intron_variant MODIFIER c.292+351A>G
c.292+351A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999568
chr12:47999634 A
A
 ATT
ATT
 22 a0001c0002t0001g0055
a0001c0002t0001g0250
a0001c0003t0001g0025
others(19): Show 
a0001c0002t0001g0055
a0001c0002t0001g0250
a0001c0003t0001g0025
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0007g0021
a0001c0004t0001g0012
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0027t0001g0185
a0001c0048t0001g0260
a0003c0020t0001g0129
a0004c0007t0001g0024
a0004c0007t0001g0264
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0049t0001g0261
a0013c0035t0002g0059
 35 HG00423.hp2
HG00544.hp1
HG00673.hp1
others(32): Show 
HG00423.hp2
HG00544.hp1
HG00673.hp1
HG00738.hp2
HG01070.hp1
HG01496.hp1
HG01517.hp1
HG02004.hp1
HG02071.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18522.hp1
NA18747.hp2
NA18941.hp1
NA18957.hp1
NA18962.hp1
NA18964.hp2
NA18971.hp2
NA19004.hp1
NA19043.hp1
NA19054.hp1
NA19056.hp1
NA19060.hp1
NA19060.hp2
NA19070.hp2
NA19079.hp2
NA19084.hp2
NA19085.hp1
 intron_variant MODIFIER c.292+283_292+284dup
others(2): Show 
c.292+283_292+284dupAA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999634 A
A
 ATTT
ATTT
 42 a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0209
others(39): Show 
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0253
a0001c0003t0001g0267
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0051
a0001c0004t0001g0137
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0006t0001g0003
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0222
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0027t0001g0229
a0001c0041t0001g0212
a0001c0050t0001g0214
a0002c0001t0002g0105
a0003c0020t0001g0128
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0254
a0006c0044t0004g0215
a0007c0028t0001g0044
a0011c0045t0001g0268
 64 HG00140.hp2
HG00280.hp2
HG00621.hp1
others(61): Show 
HG00140.hp2
HG00280.hp2
HG00621.hp1
HG00639.hp2
HG01069.hp1
HG01074.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01928.hp2
HG02040.hp1
HG02145.hp2
HG02559.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp2
HG02683.hp1
HG02723.hp2
HG02886.hp1
HG02895.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03239.hp2
HG03516.hp1
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG04204.hp1
NA18612.hp1
NA18943.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18962.hp2
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18978.hp2
NA18979.hp2
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18987.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp2
NA19012.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19065.hp2
NA19083.hp2
NA19087.hp1
NA19090.hp1
NA20300.hp1
NA20905.hp2
 intron_variant MODIFIER c.292+282_292+284dup
others(3): Show 
c.292+282_292+284dupAAA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999634 A
A
 ATTTT
ATTTT
 26 a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0003t0001g0010
others(23): Show 
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0003t0001g0010
a0001c0003t0001g0188
a0001c0003t0001g0203
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0004t0001g0200
a0001c0004t0001g0226
a0001c0006t0001g0042
a0001c0006t0001g0199
a0001c0008t0001g0009
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0014t0001g0043
a0001c0039t0001g0197
a0001c0043t0001g0183
a0001c0047t0001g0192
a0001c0051t0001g0205
a0003c0009t0002g0104
a0003c0016t0001g0115
a0003c0016t0001g0116
a0010c0052t0001g0193
 34 HG01167.hp2
HG01884.hp1
HG02074.hp1
others(31): Show 
HG01167.hp2
HG01884.hp1
HG02074.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03579.hp1
HG04199.hp1
NA18612.hp2
NA18940.hp2
NA19066.hp1
NA19068.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.292+281_292+284dup
others(4): Show 
c.292+281_292+284dupAAAA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999634 A
A
 ATTTTT
ATTTTT
 24 a0001c0002t0001g0020
a0001c0002t0001g0040
a0001c0002t0001g0171
others(21): Show 
a0001c0002t0001g0020
a0001c0002t0001g0040
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0003t0001g0041
a0001c0003t0001g0190
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0266
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0014t0001g0191
a0002c0001t0001g0117
a0002c0001t0002g0103
a0003c0005t0002g0099
a0003c0009t0002g0032
a0003c0009t0002g0101
a0003c0030t0002g0100
a0003c0032t0001g0114
a0004c0017t0001g0173
a0009c0022t0008g0102
 31 HG00323.hp1
HG00408.hp2
HG00597.hp1
others(28): Show 
HG00323.hp1
HG00408.hp2
HG00597.hp1
HG01099.hp1
HG01192.hp1
HG01255.hp1
HG01884.hp2
HG01891.hp1
HG01943.hp1
HG02132.hp2
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG03130.hp1
HG03195.hp1
HG03225.hp2
HG03540.hp2
NA18522.hp2
NA18906.hp2
NA18948.hp1
NA18955.hp1
NA18959.hp2
NA18983.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp2
NA19081.hp1
NA19091.hp2
 intron_variant MODIFIER c.292+280_292+284dup
others(5): Show 
c.292+280_292+284dupAAAAA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999634 A
A
 ATTTTTT
ATTTTTT
 94 a0001c0002t0001g0002
a0001c0002t0001g0018
a0001c0002t0001g0019
others(91): Show 
a0001c0002t0001g0002
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0142
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0225
a0001c0002t0003g0152
a0001c0003t0001g0231
a0001c0004t0001g0052
a0001c0004t0001g0234
a0001c0018t0003g0017
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0038t0001g0143
a0002c0001t0001g0016
a0002c0001t0001g0121
a0002c0001t0001g0122
a0002c0001t0001g0123
a0002c0001t0001g0124
a0002c0001t0002g0001
a0002c0001t0002g0015
a0002c0001t0002g0075
a0002c0001t0002g0078
a0002c0001t0002g0080
a0002c0001t0002g0083
a0002c0001t0002g0086
a0002c0001t0002g0089
a0002c0001t0002g0091
a0002c0001t0002g0092
a0002c0001t0002g0095
a0002c0001t0002g0097
a0002c0001t0002g0109
a0002c0001t0002g0111
a0002c0001t0010g0090
a0002c0025t0002g0031
a0003c0005t0001g0127
a0003c0005t0002g0014
a0003c0005t0002g0030
a0003c0005t0002g0033
a0003c0005t0002g0074
a0003c0005t0002g0087
a0003c0005t0002g0093
a0003c0005t0002g0098
a0003c0009t0001g0036
a0003c0009t0002g0028
a0003c0009t0002g0073
a0003c0012t0002g0029
a0003c0012t0002g0096
a0003c0013t0001g0035
a0003c0013t0001g0125
a0003c0013t0001g0126
a0003c0013t0002g0088
a0003c0016t0002g0081
a0003c0016t0002g0094
a0003c0020t0002g0079
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0008c0024t0002g0077
a0008c0024t0002g0085
a0009c0022t0008g0076
a0012c0036t0001g0153
a0014c0034t0002g0084
a0015c0033t0002g0082
 160 HG00280.hp1
HG00323.hp2
HG00408.hp1
others(157): Show 
HG00280.hp1
HG00323.hp2
HG00408.hp1
HG00423.hp1
HG00438.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01517.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01993.hp1
HG01993.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02055.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03453.hp1
HG03492.hp1
HG03669.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp1
HG04204.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18948.hp2
NA18950.hp1
NA18953.hp2
NA18957.hp2
NA18960.hp1
NA18960.hp2
NA18964.hp1
NA18965.hp2
NA18966.hp2
NA18971.hp1
NA18972.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18984.hp2
NA18987.hp1
NA18988.hp1
NA18988.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18997.hp1
NA18997.hp2
NA19001.hp2
NA19003.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19059.hp2
NA19063.hp1
NA19065.hp1
NA19066.hp2
NA19068.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19083.hp1
NA19084.hp1
NA19085.hp2
NA19086.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.292+279_292+284dup
others(6): Show 
c.292+279_292+284dupAAAAAA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999634 A
A
 ATTTTTTT
ATTTTTTT
 22 a0001c0002t0001g0005
a0001c0002t0001g0141
a0001c0002t0001g0146
others(19): Show 
a0001c0002t0001g0005
a0001c0002t0001g0141
a0001c0002t0001g0146
a0001c0018t0003g0145
a0002c0001t0001g0118
a0002c0001t0002g0004
a0002c0001t0002g0069
a0002c0001t0002g0072
a0002c0001t0002g0107
a0002c0001t0002g0108
a0002c0001t0005g0013
a0003c0005t0002g0068
a0003c0005t0002g0112
a0003c0009t0001g0120
a0003c0012t0002g0070
a0003c0012t0002g0071
a0003c0013t0001g0119
a0003c0021t0002g0066
a0003c0023t0002g0027
a0003c0031t0002g0067
a0005c0011t0001g0178
a0016c0029t0002g0058
 41 HG00140.hp1
HG00438.hp2
HG00735.hp2
others(38): Show 
HG00140.hp1
HG00438.hp2
HG00735.hp2
HG00741.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp2
HG01978.hp1
HG02004.hp2
HG02071.hp1
HG02109.hp2
HG02165.hp1
HG02258.hp2
HG02922.hp2
HG02965.hp2
HG03453.hp2
HG03471.hp1
HG03486.hp2
NA18940.hp1
NA18941.hp2
NA18949.hp1
NA18949.hp2
NA18952.hp2
NA18955.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18981.hp2
NA18985.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19086.hp2
 intron_variant MODIFIER c.292+278_292+284dup
others(7): Show 
c.292+278_292+284dupAAAAAAA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999634 A
A
 ATTTTTTT
others(1): Show 
ATTTTTTTT
 7 a0002c0001t0002g0063
a0003c0005t0002g0026
a0003c0005t0002g0060
others(4): Show 
a0002c0001t0002g0063
a0003c0005t0002g0026
a0003c0005t0002g0060
a0003c0005t0002g0065
a0003c0005t0009g0061
a0003c0012t0002g0064
a0003c0021t0002g0062
 8 HG01109.hp1
HG01361.hp2
HG02572.hp1
others(5): Show 
HG01109.hp1
HG01361.hp2
HG02572.hp1
HG02717.hp1
HG03209.hp2
HG03654.hp2
HG06807.hp1
NA21309.hp2
 intron_variant MODIFIER c.292+277_292+284dup
others(8): Show 
c.292+277_292+284dupAAAAAAAA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999634 AT
AT
 A
A
 21 a0001c0003t0001g0006
a0001c0003t0001g0131
a0001c0003t0001g0133
others(18): Show 
a0001c0003t0001g0006
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0011g0242
a0001c0004t0001g0241
a0001c0040t0001g0247
a0001c0046t0001g0132
a0003c0005t0002g0110
a0004c0007t0001g0054
a0004c0007t0001g0238
a0004c0007t0001g0248
 26 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(23): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00642.hp1
HG00738.hp1
HG01106.hp1
HG01168.hp2
HG01175.hp2
HG01261.hp2
HG01361.hp1
HG01952.hp1
HG01978.hp2
HG02109.hp1
HG02280.hp2
HG02486.hp2
HG02615.hp2
HG02683.hp2
HG02735.hp2
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG03927.hp2
HG04115.hp1
HG04199.hp2
HG04228.hp1
 intron_variant MODIFIER c.292+284delA
c.292+284delA
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999634
chr12:47999661 C
C
 T
T
 125 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(122): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0228
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0012
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0002c0001t0002g0107
a0003c0005t0002g0110
a0003c0019t0001g0034
a0003c0019t0001g0113
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0011c0045t0001g0268
a0012c0036t0001g0153
 182 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(179): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18940.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp2
NA18985.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19059.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.292+258G>A
c.292+258G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999661
chr12:47999693 T
T
 G
G
 1 a0004c0007t0001g0140
a0004c0007t0001g0140
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.292+226A>C
c.292+226A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999693
chr12:47999694 G
G
 T
T
 1 a0004c0007t0001g0140
a0004c0007t0001g0140
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.292+225C>A
c.292+225C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999694
chr12:47999743 G
G
 A
A
 119 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(116): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0025
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0012
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0027t0001g0185
a0001c0038t0001g0143
a0001c0040t0001g0247
a0001c0042t0001g0186
a0001c0046t0001g0132
a0001c0048t0001g0260
a0002c0001t0002g0107
a0003c0005t0002g0110
a0003c0019t0001g0034
a0003c0019t0001g0113
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0011c0045t0001g0268
a0012c0036t0001g0153
 175 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(172): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02155.hp2
HG02165.hp2
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02602.hp1
HG02615.hp2
HG02622.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp2
HG03239.hp1
HG03471.hp1
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03579.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp2
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18940.hp1
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp2
NA18985.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA19001.hp2
NA19004.hp1
NA19007.hp2
NA19010.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19059.hp2
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19085.hp1
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.292+176C>T
c.292+176C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999743
chr12:47999826 T
T
 A
A
 1 a0004c0017t0012g0177
a0004c0017t0012g0177
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.292+93A>T
c.292+93A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 2/53 chr12 47999826
chr12:48000183 C
C
 T
T
 1 a0002c0001t0001g0117
a0002c0001t0001g0117
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.86-58G>A
c.86-58G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48000183
chr12:48000381 A
A
 G
G
 5 a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0038t0001g0143
others(2): Show 
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0038t0001g0143
a0004c0007t0001g0140
a0004c0007t0001g0144
 5 NA18985.hp2
NA18988.hp1
NA18988.hp2
others(2): Show 
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA19001.hp2
NA19059.hp2
 intron_variant MODIFIER c.86-256T>C
c.86-256T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48000381
chr12:48000452 G
G
 A
A
 4 a0002c0001t0002g0015
a0002c0001t0002g0108
a0002c0001t0002g0109
others(1): Show 
a0002c0001t0002g0015
a0002c0001t0002g0108
a0002c0001t0002g0109
a0003c0005t0002g0033
 7 HG01069.hp2
HG01071.hp1
HG01975.hp1
others(4): Show 
HG01069.hp2
HG01071.hp1
HG01975.hp1
HG02155.hp1
NA18986.hp1
NA19005.hp1
NA19063.hp1
 intron_variant MODIFIER c.86-327C>T
c.86-327C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48000452
chr12:48000521 A
A
 G
G
 1 a0001c0003t0001g0188
a0001c0003t0001g0188
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.86-396T>C
c.86-396T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48000521
chr12:48000627 T
T
 C
C
 2 a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0178
a0005c0011t0001g0179
 2 HG01081.hp1
HG01891.hp2
HG01081.hp1
HG01891.hp2
 intron_variant MODIFIER c.86-502A>G
c.86-502A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48000627
chr12:48001040 G
G
 T
T
 74 a0001c0002t0001g0225
a0001c0003t0001g0010
a0001c0003t0001g0041
others(71): Show 
a0001c0002t0001g0225
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0135
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0047t0001g0192
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0010t0001g0050
a0004c0010t0001g0224
a0004c0015t0001g0047
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
 111 HG00140.hp2
HG00280.hp2
HG00621.hp1
others(108): Show 
HG00140.hp2
HG00280.hp2
HG00621.hp1
HG00639.hp2
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01517.hp1
HG01884.hp1
HG02040.hp1
HG02074.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19043.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19065.hp2
NA19066.hp1
NA19083.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.86-915C>A
c.86-915C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001040
chr12:48001260 C
C
 CG
CG
 187 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(184): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0005t0002g0110
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 277 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(274): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.86-1136dupC
c.86-1136dupC
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001260
chr12:48001319 T
T
 G
G
 187 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(184): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0005t0002g0110
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0020t0001g0128
a0003c0020t0001g0129
a0003c0032t0001g0114
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
a0013c0035t0002g0059
 277 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(274): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.86-1194A>C
c.86-1194A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001319
chr12:48001557 G
G
 C
C
 1 a0001c0002t0001g0180
a0001c0002t0001g0180
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.86-1432C>G
c.86-1432C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001557
chr12:48001578 C
C
 T
T
 1 a0003c0005t0002g0060
a0003c0005t0002g0060
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.86-1453G>A
c.86-1453G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001578
chr12:48001590 C
C
 A
A
 1 a0002c0001t0002g0111
a0002c0001t0002g0111
 1 NA18984.hp2
NA18984.hp2
 intron_variant MODIFIER c.86-1465G>T
c.86-1465G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001590
chr12:48001656 T
T
 C
C
 1 a0001c0002t0001g0181
a0001c0002t0001g0181
 1 NA19056.hp2
NA19056.hp2
 intron_variant MODIFIER c.86-1531A>G
c.86-1531A>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001656
chr12:48001705 C
C
 T
T
 1 a0001c0008t0001g0187
a0001c0008t0001g0187
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.86-1580G>A
c.86-1580G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001705
chr12:48001969 G
G
 T
T
 1 a0001c0002t0001g0250
a0001c0002t0001g0250
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.86-1844C>A
c.86-1844C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48001969
chr12:48002117 C
C
 T
T
 180 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(177): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
 269 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.86-1992G>A
c.86-1992G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002117
chr12:48002226 T
T
 G
G
 22 a0001c0002t0001g0055
a0001c0002t0001g0250
a0001c0003t0001g0025
others(19): Show 
a0001c0002t0001g0055
a0001c0002t0001g0250
a0001c0003t0001g0025
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0004t0001g0012
a0001c0004t0001g0137
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0048t0001g0260
a0004c0007t0001g0024
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
 30 HG00423.hp2
HG00544.hp1
HG00673.hp1
others(27): Show 
HG00423.hp2
HG00544.hp1
HG00673.hp1
HG00738.hp2
HG01496.hp1
HG01928.hp2
HG02004.hp1
HG02071.hp2
HG02132.hp1
HG02135.hp1
HG03688.hp1
HG03927.hp1
HG04228.hp2
NA18941.hp1
NA18943.hp2
NA18957.hp1
NA18962.hp1
NA18971.hp2
NA18978.hp2
NA18987.hp2
NA19004.hp1
NA19054.hp1
NA19056.hp1
NA19060.hp2
NA19063.hp2
NA19070.hp2
NA19079.hp2
NA19083.hp2
NA19085.hp1
NA20905.hp2
 intron_variant MODIFIER c.85+2011A>C
c.85+2011A>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002226
chr12:48002232 G
G
 C
C
 1 a0003c0016t0001g0116
a0003c0016t0001g0116
 1 HG02257.hp1
HG02257.hp1
 intron_variant MODIFIER c.85+2005C>G
c.85+2005C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002232
chr12:48002277 G
G
 A
A
 1 a0011c0045t0001g0268
a0011c0045t0001g0268
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.85+1960C>T
c.85+1960C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002277
chr12:48002427 C
C
 T
T
 57 a0001c0002t0001g0225
a0001c0003t0001g0010
a0001c0003t0001g0041
others(54): Show 
a0001c0002t0001g0225
a0001c0003t0001g0010
a0001c0003t0001g0041
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0004t0001g0011
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0039t0001g0197
a0001c0041t0001g0212
a0001c0047t0001g0192
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0010t0001g0050
a0004c0010t0001g0224
a0004c0015t0001g0047
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
 91 HG00140.hp2
HG00280.hp2
HG00621.hp1
others(88): Show 
HG00140.hp2
HG00280.hp2
HG00621.hp1
HG00639.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01517.hp1
HG02074.hp1
HG02074.hp2
HG02129.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02683.hp1
HG02818.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03710.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18972.hp1
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19065.hp2
NA19066.hp1
NA19083.hp1
NA19084.hp2
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.85+1810G>A
c.85+1810G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002427
chr12:48002581 G
G
 C
C
 115 a0001c0002t0001g0055
a0001c0002t0001g0225
a0001c0002t0001g0250
others(112): Show 
a0001c0002t0001g0055
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0136
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0229
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0050
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0049t0001g0261
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
 165 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(162): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00423.hp2
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01496.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02004.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18947.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18957.hp1
NA18959.hp1
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18978.hp2
NA18980.hp2
NA18984.hp1
NA18985.hp1
NA18986.hp2
NA18987.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp2
NA19066.hp1
NA19070.hp2
NA19079.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.85+1656C>G
c.85+1656C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002581
chr12:48002667 G
G
 T
T
 180 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(177): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
 269 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.85+1570C>A
c.85+1570C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002667
chr12:48002722 G
G
 T
T
 180 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(177): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
 269 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.85+1515C>A
c.85+1515C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002722
chr12:48002846 C
C
 T
T
 3 a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0032t0001g0114
a0003c0016t0001g0115
a0003c0016t0001g0116
a0003c0032t0001g0114
 3 HG01884.hp2
HG02257.hp1
HG02896.hp2
HG01884.hp2
HG02257.hp1
HG02896.hp2
 intron_variant MODIFIER c.85+1391G>A
c.85+1391G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002846
chr12:48002867 G
G
 A
A
 1 a0003c0005t0002g0112
a0003c0005t0002g0112
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.85+1370C>T
c.85+1370C>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002867
chr12:48002900 A
A
 G
G
 1 a0001c0004t0001g0137
a0001c0004t0001g0137
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.85+1337T>C
c.85+1337T>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002900
chr12:48002901 C
C
 A
A
 1 a0001c0004t0001g0137
a0001c0004t0001g0137
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.85+1336G>T
c.85+1336G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002901
chr12:48002903 G
G
 C
C
 1 a0001c0004t0001g0137
a0001c0004t0001g0137
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.85+1334C>G
c.85+1334C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48002903
chr12:48003002 C
C
 T
T
 180 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(177): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
 269 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.85+1235G>A
c.85+1235G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003002
chr12:48003101 G
G
 GA
GA
 6 a0001c0003t0001g0267
a0001c0004t0001g0056
a0001c0004t0001g0057
others(3): Show 
a0001c0003t0001g0267
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0266
a0005c0011t0001g0182
 8 HG01168.hp1
HG02723.hp1
NA18955.hp1
others(5): Show 
HG01168.hp1
HG02723.hp1
NA18955.hp1
NA18987.hp2
NA19077.hp2
NA19081.hp1
NA19083.hp2
NA19091.hp2
 intron_variant MODIFIER c.85+1135dupT
c.85+1135dupT
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003101
chr12:48003137 G
G
 T
T
 56 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(53): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0003g0152
a0001c0006t0001g0139
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0038t0001g0143
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0010t0001g0037
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0012c0036t0001g0153
 91 HG00140.hp1
HG00323.hp1
HG00408.hp2
others(88): Show 
HG00140.hp1
HG00323.hp1
HG00408.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp2
HG01070.hp2
HG01071.hp2
HG01081.hp1
HG01106.hp2
HG01168.hp1
HG01175.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01891.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp1
HG01993.hp2
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02132.hp2
HG02155.hp2
HG02165.hp2
HG02300.hp1
HG02486.hp1
HG02523.hp2
HG02602.hp1
HG02698.hp1
HG02735.hp1
HG02809.hp2
HG02976.hp1
HG03041.hp2
HG03130.hp2
HG03471.hp1
HG03492.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04204.hp2
NA18612.hp2
NA18940.hp1
NA18946.hp2
NA18948.hp1
NA18949.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18972.hp2
NA18979.hp1
NA18980.hp1
NA18983.hp2
NA18985.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA19001.hp2
NA19007.hp2
NA19030.hp1
NA19056.hp2
NA19059.hp2
NA19065.hp1
NA19066.hp2
NA19068.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
 intron_variant MODIFIER c.85+1100C>A
c.85+1100C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003137
chr12:48003263 T
T
 A
A
 1 a0013c0035t0002g0059
a0013c0035t0002g0059
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.85+974A>T
c.85+974A>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003263
chr12:48003314 TACACACA
others(9): Show 
TACACACACACACACGC
 T
T
 2 a0004c0010t0001g0037
a0004c0017t0001g0138
a0004c0010t0001g0037
a0004c0017t0001g0138
 3 HG02080.hp1
NA18966.hp2
NA19007.hp2
HG02080.hp1
NA18966.hp2
NA19007.hp2
 intron_variant MODIFIER c.85+907_85+922delGC
others(14): Show 
c.85+907_85+922delGCGTGTGTGTGTGTGT
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003314
chr12:48003456 G
G
 C
C
 1 a0001c0004t0001g0137
a0001c0004t0001g0137
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.85+781C>G
c.85+781C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003456
chr12:48003457 C
C
 A
A
 1 a0001c0004t0001g0137
a0001c0004t0001g0137
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.85+780G>T
c.85+780G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003457
chr12:48003458 A
A
 T
T
 1 a0001c0004t0001g0137
a0001c0004t0001g0137
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.85+779T>A
c.85+779T>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003458
chr12:48003820 C
C
 T
T
 1 a0001c0003t0001g0136
a0001c0003t0001g0136
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.85+417G>A
c.85+417G>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003820
chr12:48003866 C
C
 A
A
 1 a0011c0045t0001g0268
a0011c0045t0001g0268
 1 HG02895.hp2
HG02895.hp2
 intron_variant MODIFIER c.85+371G>T
c.85+371G>T
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003866
chr12:48003883 G
G
 T
T
 2 a0003c0019t0001g0034
a0003c0019t0001g0113
a0003c0019t0001g0034
a0003c0019t0001g0113
 3 HG02809.hp1
HG03486.hp1
NA19240.hp1
HG02809.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.85+354C>A
c.85+354C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003883
chr12:48003974 C
C
 G
G
 1 a0001c0003t0001g0135
a0001c0003t0001g0135
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.85+263G>C
c.85+263G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003974
chr12:48003992 G
G
 T
T
 1 a0013c0035t0002g0059
a0013c0035t0002g0059
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.85+245C>A
c.85+245C>A
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48003992
chr12:48004160 C
C
 G
G
 5 a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
others(2): Show 
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0046t0001g0132
 5 HG00642.hp1
HG01109.hp2
HG01261.hp2
others(2): Show 
HG00642.hp1
HG01109.hp2
HG01261.hp2
HG01952.hp1
HG01978.hp2
 intron_variant MODIFIER c.85+77G>C
c.85+77G>C
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48004160
chr12:48004219 G
G
 C
C
 180 a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
others(177): Show 
a0001c0002t0001g0002
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0038
a0001c0002t0001g0039
a0001c0002t0001g0040
a0001c0002t0001g0055
a0001c0002t0001g0141
a0001c0002t0001g0142
a0001c0002t0001g0146
a0001c0002t0001g0148
a0001c0002t0001g0149
a0001c0002t0001g0150
a0001c0002t0001g0151
a0001c0002t0001g0154
a0001c0002t0001g0155
a0001c0002t0001g0156
a0001c0002t0001g0157
a0001c0002t0001g0159
a0001c0002t0001g0161
a0001c0002t0001g0162
a0001c0002t0001g0164
a0001c0002t0001g0165
a0001c0002t0001g0166
a0001c0002t0001g0167
a0001c0002t0001g0168
a0001c0002t0001g0169
a0001c0002t0001g0170
a0001c0002t0001g0171
a0001c0002t0001g0172
a0001c0002t0001g0174
a0001c0002t0001g0175
a0001c0002t0001g0176
a0001c0002t0001g0180
a0001c0002t0001g0181
a0001c0002t0001g0225
a0001c0002t0001g0250
a0001c0002t0003g0152
a0001c0003t0001g0006
a0001c0003t0001g0010
a0001c0003t0001g0025
a0001c0003t0001g0041
a0001c0003t0001g0053
a0001c0003t0001g0130
a0001c0003t0001g0131
a0001c0003t0001g0133
a0001c0003t0001g0134
a0001c0003t0001g0135
a0001c0003t0001g0136
a0001c0003t0001g0184
a0001c0003t0001g0188
a0001c0003t0001g0190
a0001c0003t0001g0203
a0001c0003t0001g0209
a0001c0003t0001g0228
a0001c0003t0001g0231
a0001c0003t0001g0235
a0001c0003t0001g0236
a0001c0003t0001g0237
a0001c0003t0001g0239
a0001c0003t0001g0240
a0001c0003t0001g0243
a0001c0003t0001g0244
a0001c0003t0001g0245
a0001c0003t0001g0246
a0001c0003t0001g0249
a0001c0003t0001g0253
a0001c0003t0001g0262
a0001c0003t0001g0263
a0001c0003t0001g0267
a0001c0003t0003g0194
a0001c0003t0003g0195
a0001c0003t0003g0196
a0001c0003t0007g0021
a0001c0003t0011g0242
a0001c0004t0001g0011
a0001c0004t0001g0012
a0001c0004t0001g0022
a0001c0004t0001g0023
a0001c0004t0001g0046
a0001c0004t0001g0048
a0001c0004t0001g0049
a0001c0004t0001g0051
a0001c0004t0001g0052
a0001c0004t0001g0056
a0001c0004t0001g0057
a0001c0004t0001g0137
a0001c0004t0001g0200
a0001c0004t0001g0210
a0001c0004t0001g0213
a0001c0004t0001g0216
a0001c0004t0001g0218
a0001c0004t0001g0219
a0001c0004t0001g0223
a0001c0004t0001g0226
a0001c0004t0001g0227
a0001c0004t0001g0230
a0001c0004t0001g0234
a0001c0004t0001g0241
a0001c0004t0001g0251
a0001c0004t0001g0252
a0001c0004t0001g0255
a0001c0004t0001g0256
a0001c0004t0001g0257
a0001c0004t0001g0266
a0001c0006t0001g0003
a0001c0006t0001g0042
a0001c0006t0001g0045
a0001c0006t0001g0139
a0001c0006t0001g0199
a0001c0006t0001g0206
a0001c0006t0001g0208
a0001c0006t0006g0207
a0001c0008t0001g0009
a0001c0008t0001g0187
a0001c0008t0001g0189
a0001c0008t0001g0198
a0001c0008t0001g0201
a0001c0008t0001g0202
a0001c0008t0001g0204
a0001c0008t0001g0222
a0001c0014t0001g0043
a0001c0014t0001g0191
a0001c0014t0001g0220
a0001c0014t0001g0221
a0001c0018t0003g0017
a0001c0018t0003g0145
a0001c0026t0004g0232
a0001c0026t0004g0233
a0001c0027t0001g0185
a0001c0027t0001g0229
a0001c0038t0001g0143
a0001c0039t0001g0197
a0001c0040t0001g0247
a0001c0041t0001g0212
a0001c0042t0001g0186
a0001c0043t0001g0183
a0001c0046t0001g0132
a0001c0047t0001g0192
a0001c0048t0001g0260
a0001c0050t0001g0214
a0001c0051t0001g0205
a0003c0020t0001g0128
a0003c0020t0001g0129
a0004c0007t0001g0024
a0004c0007t0001g0054
a0004c0007t0001g0140
a0004c0007t0001g0144
a0004c0007t0001g0211
a0004c0007t0001g0217
a0004c0007t0001g0238
a0004c0007t0001g0248
a0004c0007t0001g0254
a0004c0007t0001g0264
a0004c0010t0001g0037
a0004c0010t0001g0050
a0004c0010t0001g0160
a0004c0010t0001g0163
a0004c0010t0001g0224
a0004c0015t0001g0047
a0004c0015t0001g0258
a0004c0015t0006g0259
a0004c0015t0006g0265
a0004c0017t0001g0138
a0004c0017t0001g0147
a0004c0017t0001g0173
a0004c0017t0012g0177
a0004c0049t0001g0261
a0005c0011t0001g0008
a0005c0011t0001g0178
a0005c0011t0001g0179
a0005c0011t0001g0182
a0006c0037t0004g0158
a0006c0044t0004g0215
a0007c0028t0001g0044
a0010c0052t0001g0193
a0011c0045t0001g0268
a0012c0036t0001g0153
 269 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(266): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00544.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp2
HG01346.hp1
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01993.hp2
HG02004.hp1
HG02015.hp1
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18943.hp2
NA18946.hp2
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18955.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18978.hp2
NA18979.hp1
NA18980.hp1
NA18980.hp2
NA18983.hp2
NA18984.hp1
NA18985.hp1
NA18985.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18992.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19007.hp2
NA19009.hp2
NA19010.hp1
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19058.hp1
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19063.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19068.hp2
NA19070.hp2
NA19077.hp2
NA19079.hp2
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19083.hp1
NA19083.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19087.hp1
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.85+18C>G
c.85+18C>G
COL2A1 ENSG00000139219.19 transcript ENST00000380518.8 protein_coding 1/53 chr12 48004219

  • 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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