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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ATP7A_chrX_77905693_78055395  ATP7A_chrX_77905693_78055395 (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 538
ensemblid ENSG00000165240.22
hgncid 869
symbol ATP7A
name ATPase copper transporting alpha
refseq_nuc NM_000052.7
refseq_prot NP_000043.4
ensembl_nuc ENST00000341514.11
ensembl_prot ENSP00000345728.6
mane_status MANE Select
chr chrX
start 77910693
end 78050395
strand +
ver v1.2
region chrX:77910693-78050395
region5000 chrX:77905693-78055395
regionname0 ATP7A_chrX_77910693_78050395
regionname5000 ATP7A_chrX_77905693_78055395

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 1500 139 33 17 65 5 17 49 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002 0/0 1500 73 15 13 35 2 8 25 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0003 0/0 1500 5 0 0 5 0 0 4 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0004 0/0 1500 5 3 2 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0005 0/0 1500 2 2 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0006 0/0 1500 1 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0007 0/0 1500 1 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0008 0/0 1500 1 0 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0009 0/0 863 1 0 0 1 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0010 0/0 1500 1 0 0 1 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0011 0/0 1500 1 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0012 0/0 1187 1 0 0 1 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0013 0/0 964 1 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0014 0/0 1500 1 0 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 4503 135 33 17 62 5 16 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0002 0/0 4503 73 15 13 35 2 8 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0003 0/0 4503 5 0 0 5 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0004 0/0 4503 5 3 2 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0005 0/0 4503 2 0 0 2 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0006 0/0 4503 2 2 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0007 0/0 4503 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0008 0/0 4503 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0009 0/0 4503 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0010 0/0 4502 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0011 0/0 4504 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0012 0/0 4503 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0013 0/0 4502 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0014 0/0 4503 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0015 0/0 4503 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0016 0/0 4503 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
c0017 0/0 4503 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 3990 61 3 8 32 5 11 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0002 0/0 3992 34 0 3 26 0 5 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0003 0/0 3992 30 15 10 0 2 3 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0004 0/0 3990 30 1 5 22 0 2 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0005 0/0 3990 24 12 1 8 0 3 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0006 0/0 3992 11 0 0 11 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0007 0/0 3990 9 8 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0008 0/0 3990 6 6 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0009 0/0 3990 5 3 2 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0010 0/0 3990 3 3 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0011 0/0 3987 2 0 0 2 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0012 0/0 3993 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0013 0/0 3992 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0014 0/0 4015 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0015 0/0 3995 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0016 0/0 3991 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0017 0/0 3991 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0018 0/0 3991 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0019 0/0 3988 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0020 0/0 3990 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0021 0/0 3990 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0022 0/0 3990 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0023 0/0 3996 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0024 0/0 3990 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0025 0/0 3989 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0026 0/0 4021 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0027 0/0 3990 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0028 0/0 3990 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
t0029 0/0 3990 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 0 0 2 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0002 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0003 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0004 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0005 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0006 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0007 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0008 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0009 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0010 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0011 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0012 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0013 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0014 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0015 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0016 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0017 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0018 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0019 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0020 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0021 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0022 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0023 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0024 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0025 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0026 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0027 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0028 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0029 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0030 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0031 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0032 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0033 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0034 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0035 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0036 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0037 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0038 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0039 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0040 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0041 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0042 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0043 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0044 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0045 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0046 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0047 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0048 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0049 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0050 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0051 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0052 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0053 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0054 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0055 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0056 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0057 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0058 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0059 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0060 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0061 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0062 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0063 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0064 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0065 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0066 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0067 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0068 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0069 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0070 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0071 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0072 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0073 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0074 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0075 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0076 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0077 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0078 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0079 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0080 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0081 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0082 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0083 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0084 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0085 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0086 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0087 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0088 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0089 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0090 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0091 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0092 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0093 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0094 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0095 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0096 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0097 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0098 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0099 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0100 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0101 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0102 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0103 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0104 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0105 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0106 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0107 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0108 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0109 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0110 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0111 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0112 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0113 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0114 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0115 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0116 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0117 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0118 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0119 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0120 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0121 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0122 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0123 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0124 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0125 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0126 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0127 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0128 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0129 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0130 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0131 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0132 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0133 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0134 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0135 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0136 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0137 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0138 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0139 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0140 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0141 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0142 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0143 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0144 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0145 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0146 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0147 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0148 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0149 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0150 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0151 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0152 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0153 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0154 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0155 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0156 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0157 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0158 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0159 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0160 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0161 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0162 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0163 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0164 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0165 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0166 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0167 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0168 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0169 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0170 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0171 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0172 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0173 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0174 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0175 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0176 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0177 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0178 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0179 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0180 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0181 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0182 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0183 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0184 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0185 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0186 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0187 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0188 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0189 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0190 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0191 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0192 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0193 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0194 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0195 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0196 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0197 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0198 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0199 0/1 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0200 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0201 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0202 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0203 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0204 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0205 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0206 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0207 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0208 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0209 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0210 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0211 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0212 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0213 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0214 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0215 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0216 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0217 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0218 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0219 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0220 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0221 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0222 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0223 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0224 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0225 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0226 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0227 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0228 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0229 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0230 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0231 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
g0232 1/0 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 4503 135 33 17 62 5 16 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0005 0/0 4503 2 0 0 2 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0008 0/0 4503 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0014 0/0 4503 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002 0/0 4503 73 15 13 35 2 8 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0003c0003 0/0 4503 5 0 0 5 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0004c0004 0/0 4503 5 3 2 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0005c0006 0/0 4503 2 2 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0006c0007 0/0 4503 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0007c0016 0/0 4503 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0008c0009 0/0 4503 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0009c0010 0/0 4502 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0010c0012 0/0 4503 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0011c0015 0/0 4503 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0012c0013 0/0 4502 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0013c0011 0/0 4504 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0014c0017 0/0 4503 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/1 8492 57 3 8 29 5 10 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0003 0/0 8494 2 2 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0004 0/0 8492 29 1 5 22 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0005 0/0 8492 21 10 1 7 0 3 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0007 0/0 8492 7 6 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0008 0/0 8492 4 4 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0010 0/0 8492 3 3 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0011 0/0 8489 2 0 0 2 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0019 0/0 8490 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0020 0/0 8492 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0021 0/0 8492 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0022 0/0 8492 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0023 0/0 8498 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0024 0/0 8492 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0025 0/0 8491 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0027 0/0 8492 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0028 0/0 8492 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0001t0029 0/0 8492 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0005t0001 0/0 8492 2 0 0 2 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0008t0001 0/0 8492 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0001c0014t0005 0/0 8492 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0002 0/0 8494 29 0 3 21 0 5 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0003 0/0 8494 27 13 9 0 2 3 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0006 0/0 8494 11 0 0 11 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0012 0/0 8495 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0013 0/0 8494 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0014 0/0 8517 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0015 0/0 8497 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0016 0/0 8493 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0002c0002t0018 0/0 8493 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0003c0003t0002 0/0 8494 5 0 0 5 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0004c0004t0009 0/0 8492 5 3 2 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0005c0006t0008 0/0 8492 2 2 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0006c0007t0005 0/0 8492 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0007c0016t0007 0/0 8492 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0008c0009t0003 0/0 8494 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0009c0010t0026 0/0 8522 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0010c0012t0001 0/0 8492 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0011c0015t0005 0/0 8492 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0012c0013t0017 0/0 8492 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0013c0011t0007 0/0 8493 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395
a0014c0017t0004 0/0 8492 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A copy fasta chrX 77905693 78055395

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0005 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0022 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0025 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0026 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0033 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0034 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0041 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0052 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0088 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0090 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0091 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0092 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0093 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0094 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0095 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0096 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0097 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0098 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0099 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0100 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0101 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0118 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0139 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0150 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0151 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0155 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0156 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0157 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0160 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0162 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0164 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0168 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0170 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0172 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0173 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0176 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0178 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0179 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0180 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0181 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0182 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0183 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0185 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0187 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0188 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0190 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0194 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0196 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0199 0/1 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0201 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0203 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0205 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0212 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0216 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0218 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0001g0232 1/0 1 0 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0003g0015 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0003g0016 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0027 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0143 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0152 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0153 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0154 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0161 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0165 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0166 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0167 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0169 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0171 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0174 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0186 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0192 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0193 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0197 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0200 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0206 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0207 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0208 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0209 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0210 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0211 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0214 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0215 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0219 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0220 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0229 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0004g0230 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0003 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0010 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0013 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0125 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0126 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0128 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0129 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0130 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0136 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0137 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0140 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0142 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0144 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0145 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0147 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0148 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0149 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0217 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0224 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0227 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0005g0228 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0007g0004 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0007g0006 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0007g0007 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0007g0008 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0007g0017 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0007g0018 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0007g0021 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0008g0121 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0008g0122 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0008g0123 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0008g0124 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0010g0012 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0010g0020 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0010g0141 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0011g0225 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0011g0226 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0019g0184 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0020g0014 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0021g0163 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0022g0191 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0023g0002 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0024g0213 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0025g0204 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0027g0198 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0028g0011 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0001t0029g0019 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0005t0001g0158 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0005t0001g0159 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0008t0001g0177 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0001c0014t0005g0146 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0023 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0037 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0040 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0042 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0044 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0045 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0048 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0049 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0050 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0051 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0053 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0054 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0055 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0059 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0060 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0062 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0064 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0067 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0068 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0069 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0070 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0071 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0072 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0074 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0077 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0103 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0116 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0195 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0002g0223 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0024 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0028 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0029 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0030 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0031 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0032 0/0 1 0 0 0 1 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0035 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0036 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0038 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0039 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0046 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0058 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0063 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0065 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0066 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0079 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0080 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0081 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0082 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0083 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0085 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0086 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0087 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0115 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0117 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0221 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0003g0222 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0001 0/0 2 0 0 2 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0105 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0106 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0107 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0108 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0109 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0110 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0111 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0112 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0006g0113 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0012g0114 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0013g0075 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0014g0073 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0015g0009 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0016g0084 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0002c0002t0018g0076 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0003c0003t0002g0043 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0003c0003t0002g0047 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0003c0003t0002g0056 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0003c0003t0002g0057 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0003c0003t0002g0061 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0004c0004t0009g0131 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0004c0004t0009g0132 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0004c0004t0009g0133 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0004c0004t0009g0134 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0004c0004t0009g0135 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0005c0006t0008g0119 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0005c0006t0008g0120 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0006c0007t0005g0138 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0007c0016t0007g0231 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0008c0009t0003g0078 0/0 1 0 1 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0009c0010t0026g0104 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0010c0012t0001g0089 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0011c0015t0005g0127 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0012c0013t0017g0102 0/0 1 0 0 1 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0013c0011t0007g0175 0/0 1 1 0 0 0 0 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
a0014c0017t0004g0189 0/0 1 0 0 0 0 1 ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00140 hp1 a0001 c0001 t0001 g0181 EUR GBR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00280 hp1 a0001 c0001 t0001 g0212 EUR FIN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00438 hp1 a0002 c0002 t0006 g0106 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00438 hp2 a0002 c0002 t0002 g0048 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00544 hp1 a0001 c0001 t0001 g0101 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00544 hp2 a0002 c0002 t0018 g0076 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00558 hp1 a0001 c0001 t0001 g0100 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00558 hp2 a0001 c0001 t0005 g0142 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00597 hp1 a0002 c0002 t0002 g0062 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00597 hp2 a0001 c0001 t0004 g0214 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00609 hp1 a0002 c0002 t0002 g0042 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00621 hp1 a0002 c0002 t0002 g0037 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00642 hp1 a0001 c0001 t0001 g0194 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00673 hp1 a0001 c0001 t0001 g0094 EAS CHS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00733 hp1 a0001 c0001 t0001 g0173 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00733 hp2 a0002 c0002 t0003 g0046 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00735 hp1 a0002 c0002 t0002 g0050 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00735 hp2 a0008 c0009 t0003 g0078 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG00738 hp1 a0002 c0002 t0003 g0024 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01069 hp1 a0002 c0002 t0003 g0058 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01074 hp1 a0002 c0002 t0003 g0029 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01081 hp1 a0001 c0001 t0001 g0178 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01081 hp2 a0002 c0002 t0013 g0075 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01099 hp1 a0001 c0001 t0019 g0184 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01106 hp1 a0001 c0001 t0001 g0182 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01109 hp1 a0001 c0001 t0005 g0137 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01167 hp1 a0004 c0004 t0009 g0133 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01169 hp1 a0001 c0001 t0004 g0206 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01169 hp2 a0004 c0004 t0009 g0134 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01192 hp1 a0001 c0001 t0025 g0204 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01243 hp1 a0001 c0001 t0007 g0017 AMR PUR ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01255 hp1 a0002 c0002 t0003 g0038 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01256 hp1 a0001 c0001 t0001 g0196 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01258 hp1 a0002 c0002 t0002 g0077 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01261 hp1 a0001 c0001 t0004 g0209 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01358 hp1 a0001 c0001 t0004 g0211 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01433 hp1 a0002 c0002 t0003 g0030 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01496 hp1 a0001 c0001 t0001 g0157 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01496 hp2 a0002 c0002 t0003 g0066 AMR CLM ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01515 hp1 a0002 c0002 t0003 g0031 EUR IBS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01517 hp1 a0001 c0001 t0001 g0162 EUR IBS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01517 hp2 a0002 c0002 t0003 g0032 EUR IBS ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01884 hp1 a0002 c0002 t0016 g0084 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01884 hp2 a0004 c0004 t0009 g0131 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01928 hp1 a0001 c0001 t0001 g0188 AMR PEL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01934 hp1 a0001 c0001 t0001 g0203 AMR PEL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01943 hp1 a0002 c0002 t0003 g0063 AMR PEL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG01952 hp1 a0001 c0001 t0004 g0208 AMR PEL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02015 hp1 a0001 c0014 t0005 g0146 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02027 hp1 a0001 c0001 t0001 g0155 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02040 hp1 a0002 c0002 t0002 g0053 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02056 hp1 a0002 c0002 t0002 g0069 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02071 hp1 a0001 c0001 t0004 g0152 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02074 hp1 a0001 c0001 t0004 g0193 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02080 hp1 a0002 c0002 t0002 g0195 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02080 hp2 a0001 c0001 t0001 g0052 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02083 hp1 a0001 c0001 t0001 g0180 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02129 hp1 a0001 c0001 t0001 g0096 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02132 hp1 a0001 c0001 t0004 g0171 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02135 hp1 a0002 c0002 t0002 g0223 EAS KHV ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02145 hp1 a0001 c0001 t0001 g0026 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02165 hp1 a0003 c0003 t0002 g0043 EAS CDX ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02165 hp2 a0001 c0001 t0005 g0227 EAS CDX ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02258 hp1 a0001 c0001 t0008 g0122 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02273 hp1 a0001 c0001 t0004 g0207 AMR PEL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02273 hp2 a0002 c0002 t0003 g0065 AMR PEL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02280 hp1 a0005 c0006 t0008 g0120 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02280 hp2 a0006 c0007 t0005 g0138 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02300 hp1 a0002 c0002 t0002 g0059 AMR PEL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02451 hp1 a0004 c0004 t0009 g0132 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02451 hp2 a0002 c0002 t0003 g0082 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02572 hp1 a0001 c0001 t0005 g0003 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02602 hp1 a0001 c0001 t0001 g0139 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02615 hp1 a0001 c0001 t0005 g0130 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02615 hp2 a0001 c0001 t0010 g0012 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02647 hp1 a0001 c0001 t0023 g0002 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02683 hp1 a0002 c0002 t0002 g0103 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02683 hp2 a0001 c0001 t0001 g0034 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02698 hp1 a0002 c0002 t0003 g0039 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02717 hp1 a0001 c0001 t0005 g0126 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02735 hp1 a0001 c0001 t0001 g0190 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02738 hp1 a0001 c0001 t0001 g0151 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02809 hp1 a0001 c0001 t0005 g0013 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02809 hp2 a0001 c0001 t0010 g0020 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02886 hp1 a0005 c0006 t0008 g0119 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02886 hp2 a0001 c0001 t0005 g0128 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02895 hp1 a0001 c0001 t0007 g0008 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02897 hp1 a0013 c0011 t0007 g0175 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02897 hp2 a0001 c0001 t0001 g0005 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02922 hp1 a0002 c0002 t0003 g0083 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02922 hp2 a0001 c0001 t0008 g0123 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02965 hp1 a0001 c0001 t0005 g0147 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02970 hp1 a0001 c0001 t0028 g0011 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02970 hp2 a0002 c0002 t0003 g0087 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03017 hp1 a0001 c0001 t0001 g0205 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03041 hp1 a0001 c0001 t0010 g0141 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03041 hp2 a0001 c0001 t0003 g0016 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03098 hp1 a0002 c0002 t0003 g0086 AFR MSL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03130 hp1 a0002 c0002 t0003 g0079 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03139 hp1 a0002 c0002 t0003 g0085 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03195 hp1 a0001 c0001 t0001 g0216 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03195 hp2 a0001 c0001 t0008 g0124 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03209 hp1 a0001 c0001 t0007 g0006 AFR MSL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03225 hp1 a0001 c0001 t0020 g0014 AFR MSL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03239 hp1 a0002 c0002 t0002 g0040 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03239 hp2 a0001 c0001 t0005 g0149 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03453 hp1 a0001 c0001 t0007 g0018 AFR MSL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03453 hp2 a0002 c0002 t0003 g0081 AFR MSL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03490 hp1 a0001 c0001 t0001 g0187 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03492 hp1 a0001 c0001 t0001 g0033 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03516 hp1 a0001 c0001 t0005 g0224 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03516 hp2 a0002 c0002 t0015 g0009 AFR ESN ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03540 hp1 a0001 c0001 t0029 g0019 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03540 hp2 a0011 c0015 t0005 g0127 AFR GWD ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03579 hp1 a0001 c0001 t0005 g0136 AFR MSL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03654 hp1 a0002 c0002 t0002 g0060 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03688 hp1 a0001 c0008 t0001 g0177 SAS STU ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03710 hp1 a0002 c0002 t0002 g0068 SAS PJL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03831 hp1 a0001 c0001 t0004 g0230 SAS BEB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03831 hp2 a0002 c0002 t0003 g0222 SAS BEB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03927 hp1 a0001 c0001 t0001 g0025 SAS BEB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03927 hp2 a0002 c0002 t0002 g0023 SAS BEB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03942 hp1 a0001 c0001 t0027 g0198 SAS BEB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG04115 hp1 a0001 c0001 t0001 g0118 SAS STU ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG04184 hp1 a0001 c0001 t0005 g0140 SAS BEB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG04184 hp2 a0002 c0002 t0003 g0028 SAS BEB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG04199 hp1 a0001 c0001 t0001 g0218 SAS STU ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG04204 hp1 a0001 c0001 t0005 g0144 SAS STU ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG04228 hp1 a0001 c0001 t0022 g0191 SAS STU ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18522 hp1 a0002 c0002 t0003 g0080 AFR YRI ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18612 hp1 a0001 c0001 t0001 g0090 EAS CHB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18747 hp1 a0001 c0001 t0001 g0093 EAS CHB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18906 hp1 a0002 c0002 t0003 g0221 AFR YRI ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18906 hp2 a0001 c0001 t0005 g0129 AFR YRI ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18940 hp1 a0003 c0003 t0002 g0061 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18942 hp1 a0002 c0002 t0014 g0073 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18942 hp2 a0001 c0001 t0001 g0088 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18943 hp1 a0002 c0002 t0002 g0072 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18944 hp1 a0002 c0002 t0006 g0112 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18945 hp1 a0002 c0002 t0006 g0107 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18947 hp1 a0001 c0001 t0004 g0165 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18947 hp2 a0002 c0002 t0002 g0051 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18948 hp1 a0001 c0001 t0005 g0145 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18949 hp1 a0001 c0001 t0004 g0220 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18949 hp2 a0001 c0001 t0005 g0148 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18951 hp1 a0002 c0002 t0002 g0049 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18951 hp2 a0001 c0001 t0001 g0168 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18952 hp1 a0002 c0002 t0002 g0045 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18953 hp1 a0002 c0002 t0006 g0108 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18954 hp1 a0001 c0001 t0005 g0125 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18954 hp2 a0001 c0005 t0001 g0158 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18959 hp1 a0001 c0001 t0004 g0166 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18960 hp1 a0003 c0003 t0002 g0057 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18961 hp1 a0001 c0001 t0001 g0156 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18962 hp1 a0001 c0001 t0005 g0010 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18965 hp1 a0001 c0001 t0011 g0225 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18966 hp1 a0002 c0002 t0006 g0109 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18969 hp1 a0001 c0001 t0001 g0160 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18969 hp2 a0002 c0002 t0002 g0070 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18970 hp1 a0001 c0001 t0004 g0143 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18971 hp1 a0001 c0001 t0001 g0097 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18974 hp1 a0009 c0010 t0026 g0104 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18975 hp1 a0001 c0001 t0004 g0161 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18975 hp2 a0002 c0002 t0006 g0113 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18977 hp1 a0001 c0001 t0004 g0197 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18982 hp1 a0001 c0001 t0004 g0192 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18983 hp1 a0001 c0001 t0001 g0095 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18984 hp1 a0001 c0005 t0001 g0159 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18985 hp1 a0012 c0013 t0017 g0102 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18986 hp1 a0001 c0001 t0004 g0186 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18987 hp1 a0002 c0002 t0002 g0074 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18987 hp2 a0001 c0001 t0004 g0215 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18988 hp1 a0001 c0001 t0004 g0169 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18989 hp1 a0003 c0003 t0002 g0056 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18990 hp1 a0001 c0001 t0004 g0153 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18994 hp1 a0002 c0002 t0006 g0111 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18995 hp1 a0001 c0001 t0001 g0202 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19000 hp1 a0001 c0001 t0004 g0200 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19001 hp1 a0001 c0001 t0004 g0174 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19001 hp2 a0001 c0001 t0005 g0228 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19003 hp1 a0001 c0001 t0001 g0022 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19003 hp2 a0003 c0003 t0002 g0047 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19004 hp1 a0002 c0002 t0006 g0001 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19005 hp1 a0001 c0001 t0001 g0098 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19007 hp1 a0002 c0002 t0002 g0054 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19009 hp1 a0001 c0001 t0001 g0099 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19011 hp1 a0001 c0001 t0021 g0163 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19011 hp2 a0002 c0002 t0006 g0110 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19012 hp1 a0010 c0012 t0001 g0089 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19030 hp1 a0002 c0002 t0003 g0036 AFR LWK ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19030 hp2 a0007 c0016 t0007 g0231 AFR LWK ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19043 hp1 a0001 c0001 t0008 g0121 AFR LWK ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19055 hp1 a0001 c0001 t0001 g0041 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19056 hp1 a0001 c0001 t0001 g0150 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19058 hp1 a0001 c0001 t0001 g0170 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19060 hp1 a0001 c0001 t0001 g0179 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19062 hp1 a0002 c0002 t0006 g0001 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19063 hp1 a0002 c0002 t0012 g0114 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19064 hp1 a0001 c0001 t0004 g0229 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19064 hp2 a0002 c0002 t0002 g0071 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19065 hp1 a0002 c0002 t0002 g0067 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19065 hp2 a0001 c0001 t0001 g0164 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19066 hp1 a0002 c0002 t0002 g0044 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19067 hp1 a0001 c0001 t0004 g0154 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19068 hp1 a0001 c0001 t0001 g0091 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19070 hp1 a0001 c0001 t0001 g0176 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19074 hp1 a0001 c0001 t0004 g0167 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19074 hp2 a0001 c0001 t0011 g0226 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19075 hp1 a0001 c0001 t0001 g0092 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19076 hp1 a0002 c0002 t0006 g0105 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19079 hp1 a0002 c0002 t0002 g0116 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19082 hp1 a0002 c0002 t0002 g0055 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19083 hp1 a0001 c0001 t0024 g0213 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19085 hp1 a0002 c0002 t0002 g0064 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19088 hp1 a0001 c0001 t0001 g0201 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19089 hp1 a0001 c0001 t0001 g0172 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA19091 hp1 a0001 c0001 t0004 g0027 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA20129 hp1 a0001 c0001 t0003 g0015 AFR ASW ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA20129 hp2 a0004 c0004 t0009 g0135 AFR ASW ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA20752 hp1 a0001 c0001 t0001 g0185 EUR TSI ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA20805 hp1 a0001 c0001 t0001 g0183 EUR TSI ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA20905 hp1 a0014 c0017 t0004 g0189 SAS GIH ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02486 hp1 a0002 c0002 t0003 g0035 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02559 hp1 a0002 c0002 t0003 g0117 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG02559 hp2 a0001 c0001 t0007 g0004 AFR ACB ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
HG03471 hp1 a0001 c0001 t0007 g0007 AFR MSL ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA18955 hp1 a0001 c0001 t0004 g0219 EAS JPT ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA20300 hp1 a0001 c0001 t0007 g0021 AFR USA ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA20300 hp2 a0001 c0001 t0004 g0210 AFR USA ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA21309 hp1 a0001 c0001 t0005 g0217 AFR LWK ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
NA21309 hp2 a0002 c0002 t0003 g0115 AFR LWK ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0199 REF REF ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0232 REF REF ATP7A_chrX_77905693_78055395 ATP7A chrX 77905693 78055395

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
chrX:77988612 G
G
 A
A
 1 a0006
a0006
 1 HG02280.hp2
HG02280.hp2
 missense_variant MODERATE c.491G>A
c.491G>A
 p.Ser164Asn
p.Ser164Asn
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 3/23 655/8492 491/4503 164/1500 chrX 77988612
chrX:77988686 A
A
 G
G
 1 a0004
a0004
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 missense_variant MODERATE c.565A>G
c.565A>G
 p.Ile189Val
p.Ile189Val
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 3/23 729/8492 565/4503 189/1500 chrX 77988686
chrX:77998657 A
A
 G
G
 1 a0004
a0004
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 missense_variant MODERATE c.1516A>G
c.1516A>G
 p.Ile506Val
p.Ile506Val
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/23 1680/8492 1516/4503 506/1500 chrX 77998657
chrX:78009150 C
C
 G
G
 1 a0014
a0014
 1 NA20905.hp1
NA20905.hp1
 missense_variant MODERATE c.1756C>G
c.1756C>G
 p.Leu586Val
p.Leu586Val
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/23 1920/8492 1756/4503 586/1500 chrX 78009150
chrX:78009162 A
A
 G
G
 1 a0007
a0007
 1 NA19030.hp2
NA19030.hp2
 missense_variant MODERATE c.1768A>G
c.1768A>G
 p.Arg590Gly
p.Arg590Gly
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/23 1932/8492 1768/4503 590/1500 chrX 78009162
chrX:78009217 A
A
 G
G
 1 a0005
a0005
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 missense_variant MODERATE c.1823A>G
c.1823A>G
 p.Tyr608Cys
p.Tyr608Cys
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/23 1987/8492 1823/4503 608/1500 chrX 78009217
chrX:78011457 G
G
 A
A
 1 a0008
a0008
 1 HG00735.hp2
HG00735.hp2
 missense_variant MODERATE c.1955G>A
c.1955G>A
 p.Arg652Gln
p.Arg652Gln
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/23 2119/8492 1955/4503 652/1500 chrX 78011457
chrX:78011613 A
A
 G
G
 1 a0014
a0014
 1 NA20905.hp1
NA20905.hp1
 missense_variant MODERATE c.2111A>G
c.2111A>G
 p.Gln704Arg
p.Gln704Arg
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/23 2275/8492 2111/4503 704/1500 chrX 78011613
chrX:78013005 G
G
 C
C
 4 a0002
a0003
a0008
others(1): Show 
a0002
a0003
a0008
a0009
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 missense_variant MODERATE c.2299G>C
c.2299G>C
 p.Val767Leu
p.Val767Leu
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 10/23 2463/8492 2299/4503 767/1500 chrX 78013005
chrX:78015816 G
G
 GA
GA
 1 a0009
a0009
 1 NA18974.hp1
NA18974.hp1
 frameshift_variant HIGH c.2561_2562insA
c.2561_2562insA
 p.Lys855fs
p.Lys855fs
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/23 2726/8492 2562/4503 854/1500 chrX 78015816
chrX:78015869 T
T
 TC
TC
 1 a0009
a0009
 1 NA18974.hp1
NA18974.hp1
 frameshift_variant HIGH c.2617dupC
c.2617dupC
 p.Leu873fs
p.Leu873fs
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/23 2782/8492 2618/4503 873/1500 INFO_REALIGN_3_PRIME chrX 78015869
chrX:78020308 C
C
 CG
CG
 1 a0013
a0013
 1 HG02897.hp1
HG02897.hp1
 frameshift_variant HIGH c.2694dupG
c.2694dupG
 p.Ser899fs
p.Ser899fs
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/23 2859/8492 2695/4503 899/1500 INFO_REALIGN_3_PRIME chrX 78020308
chrX:78031400 G
G
 A
A
 1 a0010
a0010
 1 NA19012.hp1
NA19012.hp1
 missense_variant&splice_region_variant MODERATE c.3112G>A
c.3112G>A
 p.Val1038Ile
p.Val1038Ile
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/23 3276/8492 3112/4503 1038/1500 chrX 78031400
chrX:78038877 CG
CG
 C
C
 1 a0012
a0012
 1 NA18985.hp1
NA18985.hp1
 frameshift_variant HIGH c.3556delG
c.3556delG
 p.Glu1186fs
p.Glu1186fs
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/23 3720/8492 3556/4503 1186/1500 INFO_REALIGN_3_PRIME chrX 78038877
chrX:78038913 A
A
 G
G
 1 a0011
a0011
 1 HG03540.hp2
HG03540.hp2
 missense_variant MODERATE c.3589A>G
c.3589A>G
 p.Asn1197Asp
p.Asn1197Asp
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/23 3753/8492 3589/4503 1197/1500 chrX 78038913
chrX:78042718 CTAA
CTAA
 C
C
 1 a0009
a0009
 1 NA18974.hp1
NA18974.hp1
 conservative_inframe_deletion MODERATE c.3937_3939delAAT
c.3937_3939delAAT
 p.Asn1313del
p.Asn1313del
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 20/23 4101/8492 3937/4503 1313/1500 INFO_REALIGN_3_PRIME chrX 78042718
chrX:78043317 A
A
 G
G
 1 a0008
a0008
 1 HG00735.hp2
HG00735.hp2
 missense_variant&splice_region_variant MODERATE c.4006A>G
c.4006A>G
 p.Asn1336Asp
p.Asn1336Asp
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/23 4170/8492 4006/4503 1336/1500 chrX 78043317
chrX:78046457 A
A
 G
G
 1 a0003
a0003
 5 HG02165.hp1
NA18940.hp1
NA18960.hp1
others(2): Show 
HG02165.hp1
NA18940.hp1
NA18960.hp1
NA18989.hp1
NA19003.hp2
 missense_variant MODERATE c.4390A>G
c.4390A>G
 p.Ile1464Val
p.Ile1464Val
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 4554/8492 4390/4503 1464/1500 chrX 78046457

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
chrX:77989486 T
T
 C
C
 1 a0001c0005
a0001c0005
 2 NA18954.hp2
NA18984.hp1
NA18954.hp2
NA18984.hp1
 synonymous_variant LOW c.864T>C
c.864T>C
 p.Cys288Cys
p.Cys288Cys
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/23 1028/8492 864/4503 288/1500 chrX 77989486
chrX:78011208 G
G
 A
A
 1 a0001c0008
a0001c0008
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.1902G>A
c.1902G>A
 p.Lys634Lys
p.Lys634Lys
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 8/23 2066/8492 1902/4503 634/1500 chrX 78011208
chrX:78038945 G
G
 A
A
 1 a0001c0014
a0001c0014
 1 HG02015.hp1
HG02015.hp1
 synonymous_variant LOW c.3621G>A
c.3621G>A
 p.Glu1207Glu
p.Glu1207Glu
 ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/23 3785/8492 3621/4503 1207/1500 chrX 78038945

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
chrX:77910763 C
C
 G
G
 1 a0001c0001t0029
a0001c0001t0029
 1 HG03540.hp1
HG03540.hp1
 5_prime_UTR_variant MODIFIER c.-94C>G
c.-94C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/23 60879 chrX 77910763
chrX:78046610 C
C
 G
G
 1 a0001c0001t0028
a0001c0001t0028
 1 HG02970.hp1
HG02970.hp1
 3_prime_UTR_variant MODIFIER c.*40C>G
c.*40C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 40 chrX 78046610
chrX:78046702 C
C
 A
A
 1 a0001c0001t0010
a0001c0001t0010
 3 HG02615.hp2
HG02809.hp2
HG03041.hp1
HG02615.hp2
HG02809.hp2
HG03041.hp1
 3_prime_UTR_variant MODIFIER c.*132C>A
c.*132C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 132 chrX 78046702
chrX:78046805 A
A
 G
G
 1 a0001c0001t0027
a0001c0001t0027
 1 HG03942.hp1
HG03942.hp1
 3_prime_UTR_variant MODIFIER c.*235A>G
c.*235A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 235 chrX 78046805
chrX:78046821 G
G
 GTTTACAA
others(24): Show 
GTTTACAACAAGCCCTACAATTAGAGATTGCT
 1 a0009c0010t0026
a0009c0010t0026
 1 NA18974.hp1
NA18974.hp1
 3_prime_UTR_variant MODIFIER c.*252_*282dupTTTACA
others(25): Show 
c.*252_*282dupTTTACAACAAGCCCTACAATTAGAGATTGCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 283 INFO_REALIGN_3_PRIME chrX 78046821
chrX:78046837 A
A
 G
G
 2 a0001c0001t0008
a0005c0006t0008
a0001c0001t0008
a0005c0006t0008
 6 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 3_prime_UTR_variant MODIFIER c.*267A>G
c.*267A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 267 chrX 78046837
chrX:78046888 C
C
 CA
CA
 4 a0002c0002t0016
a0002c0002t0018
a0009c0010t0026
others(1): Show 
a0002c0002t0016
a0002c0002t0018
a0009c0010t0026
a0012c0013t0017
 4 HG00544.hp2
HG01884.hp1
NA18974.hp1
others(1): Show 
HG00544.hp2
HG01884.hp1
NA18974.hp1
NA18985.hp1
 3_prime_UTR_variant MODIFIER c.*329dupA
c.*329dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 330 INFO_REALIGN_3_PRIME chrX 78046888
chrX:78046888 C
C
 CAA
CAA
 10 a0001c0001t0003
a0002c0002t0002
a0002c0002t0003
others(7): Show 
a0001c0001t0003
a0002c0002t0002
a0002c0002t0003
a0002c0002t0006
a0002c0002t0012
a0002c0002t0013
a0002c0002t0014
a0002c0002t0015
a0003c0003t0002
a0008c0009t0003
 79 HG00438.hp1
HG00438.hp2
HG00597.hp1
others(76): Show 
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*328_*329dupAA
c.*328_*329dupAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 330 INFO_REALIGN_3_PRIME chrX 78046888
chrX:78046888 CA
CA
 C
C
 1 a0001c0001t0025
a0001c0001t0025
 1 HG01192.hp1
HG01192.hp1
 3_prime_UTR_variant MODIFIER c.*329delA
c.*329delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 329 INFO_REALIGN_3_PRIME chrX 78046888
chrX:78047337 T
T
 TA
TA
 1 a0002c0002t0012
a0002c0002t0012
 1 NA19063.hp1
NA19063.hp1
 3_prime_UTR_variant MODIFIER c.*772dupA
c.*772dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 773 INFO_REALIGN_3_PRIME chrX 78047337
chrX:78047471 C
C
 G
G
 1 a0001c0001t0024
a0001c0001t0024
 1 NA19083.hp1
NA19083.hp1
 3_prime_UTR_variant MODIFIER c.*901C>G
c.*901C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 901 chrX 78047471
chrX:78047504 C
C
 T
T
 3 a0002c0002t0006
a0002c0002t0012
a0009c0010t0026
a0002c0002t0006
a0002c0002t0012
a0009c0010t0026
 13 HG00438.hp1
NA18944.hp1
NA18945.hp1
others(10): Show 
HG00438.hp1
NA18944.hp1
NA18945.hp1
NA18953.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18994.hp1
NA19004.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19076.hp1
 3_prime_UTR_variant MODIFIER c.*934C>T
c.*934C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 934 chrX 78047504
chrX:78047554 T
T
 TTTG
TTTG
 1 a0002c0002t0015
a0002c0002t0015
 1 HG03516.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*1015_*1017dupTTG
c.*1015_*1017dupTTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1018 INFO_REALIGN_3_PRIME chrX 78047554
chrX:78047554 T
T
 TTTGTTG
TTTGTTG
 1 a0001c0001t0023
a0001c0001t0023
 1 HG02647.hp1
HG02647.hp1
 3_prime_UTR_variant MODIFIER c.*1012_*1017dupTTGT
others(2): Show 
c.*1012_*1017dupTTGTTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1018 INFO_REALIGN_3_PRIME chrX 78047554
chrX:78047554 TTTG
TTTG
 T
T
 1 a0001c0001t0011
a0001c0001t0011
 2 NA18965.hp1
NA19074.hp2
NA18965.hp1
NA19074.hp2
 3_prime_UTR_variant MODIFIER c.*1015_*1017delTTG
c.*1015_*1017delTTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1015 INFO_REALIGN_3_PRIME chrX 78047554
chrX:78047661 C
C
 T
T
 1 a0001c0001t0022
a0001c0001t0022
 1 HG04228.hp1
HG04228.hp1
 3_prime_UTR_variant MODIFIER c.*1091C>T
c.*1091C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1091 chrX 78047661
chrX:78047730 C
C
 T
T
 1 a0001c0001t0021
a0001c0001t0021
 1 NA19011.hp1
NA19011.hp1
 3_prime_UTR_variant MODIFIER c.*1160C>T
c.*1160C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1160 chrX 78047730
chrX:78047889 A
A
 G
G
 1 a0001c0001t0020
a0001c0001t0020
 1 HG03225.hp1
HG03225.hp1
 3_prime_UTR_variant MODIFIER c.*1319A>G
c.*1319A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1319 chrX 78047889
chrX:78048050 C
C
 T
T
 7 a0002c0002t0002
a0002c0002t0006
a0002c0002t0012
others(4): Show 
a0002c0002t0002
a0002c0002t0006
a0002c0002t0012
a0002c0002t0014
a0002c0002t0018
a0003c0003t0002
a0009c0010t0026
 49 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(46): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00735.hp1
HG01258.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02683.hp1
HG03239.hp1
HG03654.hp1
HG03710.hp1
HG03927.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
 3_prime_UTR_variant MODIFIER c.*1480C>T
c.*1480C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1480 chrX 78048050
chrX:78048389 T
T
 C
C
 1 a0004c0004t0009
a0004c0004t0009
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 3_prime_UTR_variant MODIFIER c.*1819T>C
c.*1819T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1819 chrX 78048389
chrX:78048446 CAG
CAG
 C
C
 1 a0001c0001t0019
a0001c0001t0019
 1 HG01099.hp1
HG01099.hp1
 3_prime_UTR_variant MODIFIER c.*1879_*1880delAG
c.*1879_*1880delAG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1879 INFO_REALIGN_3_PRIME chrX 78048446
chrX:78048481 G
G
 C
C
 2 a0001c0001t0004
a0014c0017t0004
a0001c0001t0004
a0014c0017t0004
 30 HG00597.hp2
HG01169.hp1
HG01261.hp1
others(27): Show 
HG00597.hp2
HG01169.hp1
HG01261.hp1
HG01358.hp1
HG01952.hp1
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02273.hp1
HG03831.hp1
NA18947.hp1
NA18949.hp1
NA18955.hp1
NA18959.hp1
NA18970.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19000.hp1
NA19001.hp1
NA19064.hp1
NA19067.hp1
NA19074.hp1
NA19091.hp1
NA20300.hp2
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*1911G>C
c.*1911G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1911 chrX 78048481
chrX:78048530 T
T
 C
C
 29 a0001c0001t0003
a0001c0001t0005
a0001c0001t0007
others(26): Show 
a0001c0001t0003
a0001c0001t0005
a0001c0001t0007
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0020
a0001c0001t0023
a0001c0001t0028
a0001c0001t0029
a0001c0014t0005
a0002c0002t0002
a0002c0002t0003
a0002c0002t0006
a0002c0002t0012
a0002c0002t0013
a0002c0002t0014
a0002c0002t0015
a0002c0002t0016
a0002c0002t0018
a0003c0003t0002
a0004c0004t0009
a0005c0006t0008
a0006c0007t0005
a0007c0016t0007
a0008c0009t0003
a0009c0010t0026
a0011c0015t0005
a0013c0011t0007
 135 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(132): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*1960T>C
c.*1960T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 1960 chrX 78048530
chrX:78048811 G
G
 C
C
 11 a0001c0001t0005
a0001c0001t0008
a0001c0001t0010
others(8): Show 
a0001c0001t0005
a0001c0001t0008
a0001c0001t0010
a0001c0001t0011
a0001c0001t0023
a0001c0014t0005
a0002c0002t0013
a0004c0004t0009
a0005c0006t0008
a0006c0007t0005
a0011c0015t0005
 42 HG00558.hp2
HG01081.hp2
HG01109.hp1
others(39): Show 
HG00558.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02922.hp2
HG02965.hp1
HG03041.hp1
HG03195.hp2
HG03239.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG04184.hp1
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp1
NA18962.hp1
NA18965.hp1
NA19001.hp2
NA19043.hp1
NA19074.hp2
NA20129.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*2241G>C
c.*2241G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 2241 chrX 78048811
chrX:78049410 C
C
 CAACCATG
others(16): Show 
CAACCATGCCCTTAGTCTGAAGAT
 1 a0002c0002t0014
a0002c0002t0014
 1 NA18942.hp1
NA18942.hp1
 3_prime_UTR_variant MODIFIER c.*2844_*2866dupCATG
others(19): Show 
c.*2844_*2866dupCATGCCCTTAGTCTGAAGATAAC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 2867 INFO_REALIGN_3_PRIME chrX 78049410
chrX:78049685 TA
TA
 T
T
 1 a0009c0010t0026
a0009c0010t0026
 1 NA18974.hp1
NA18974.hp1
 3_prime_UTR_variant MODIFIER c.*3120delA
c.*3120delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 23/23 3120 INFO_REALIGN_3_PRIME chrX 78049685

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
chrX:77910952 T
T
 C
C
 231 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(228): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 232 HG00140.hp1
HG00280.hp1
HG00438.hp1
others(229): Show 
HG00140.hp1
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+117T>C
c.-22+117T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77910952
chrX:77910985 T
T
 C
C
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-22+150T>C
c.-22+150T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77910985
chrX:77911046 C
C
 G
G
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+211C>G
c.-22+211C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77911046
chrX:77911524 G
G
 A
A
 5 a0001c0001t0001g0005
a0001c0001t0007g0004
a0001c0001t0007g0006
others(2): Show 
a0001c0001t0001g0005
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
 5 HG02559.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG02559.hp2
HG02895.hp1
HG02897.hp2
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.-22+689G>A
c.-22+689G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77911524
chrX:77911559 A
A
 AT
AT
 12 a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
others(9): Show 
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0002c0002t0002g0223
a0002c0002t0003g0221
a0002c0002t0003g0222
a0007c0016t0007g0231
 12 HG02135.hp1
HG02165.hp2
HG03516.hp1
others(9): Show 
HG02135.hp1
HG02165.hp2
HG03516.hp1
HG03831.hp1
HG03831.hp2
NA18906.hp1
NA18949.hp1
NA18965.hp1
NA19001.hp2
NA19030.hp2
NA19064.hp1
NA19074.hp2
 intron_variant MODIFIER c.-22+739dupT
c.-22+739dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77911559
chrX:77911559 AT
AT
 A
A
 19 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0003g0015
others(16): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0020g0014
a0001c0001t0028g0011
a0001c0001t0029g0019
a0002c0002t0015g0009
 19 HG01243.hp1
HG02559.hp2
HG02615.hp2
others(16): Show 
HG01243.hp1
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02809.hp2
HG02895.hp1
HG02897.hp2
HG02970.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp1
NA18962.hp1
NA19003.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+739delT
c.-22+739delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77911559
chrX:77911583 C
C
 CG
CG
 6 a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0004g0027
others(3): Show 
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0004g0027
a0001c0001t0004g0220
a0002c0002t0002g0023
a0002c0002t0003g0024
 6 HG00738.hp1
HG02145.hp1
HG03927.hp1
others(3): Show 
HG00738.hp1
HG02145.hp1
HG03927.hp1
HG03927.hp2
NA18949.hp1
NA19091.hp1
 intron_variant MODIFIER c.-22+755dupG
c.-22+755dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77911583
chrX:77911599 A
A
 AG
AG
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+769dupG
c.-22+769dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77911599
chrX:77911600 G
G
 A
A
 5 a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
others(2): Show 
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
 5 HG01074.hp1
HG01433.hp1
HG01515.hp1
others(2): Show 
HG01074.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
HG04184.hp2
 intron_variant MODIFIER c.-22+765G>A
c.-22+765G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77911600
chrX:77911849 C
C
 A
A
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.-22+1014C>A
c.-22+1014C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77911849
chrX:77911858 C
C
 T
T
 1 a0001c0001t0004g0219
a0001c0001t0004g0219
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.-22+1023C>T
c.-22+1023C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77911858
chrX:77912154 T
T
 C
C
 1 a0001c0001t0007g0004
a0001c0001t0007g0004
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.-22+1319T>C
c.-22+1319T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77912154
chrX:77912944 C
C
 T
T
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-22+2109C>T
c.-22+2109C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77912944
chrX:77913396 TG
TG
 T
T
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+2565delG
c.-22+2565delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77913396
chrX:77913419 TG
TG
 T
T
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+2589delG
c.-22+2589delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77913419
chrX:77913508 T
T
 A
A
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-22+2673T>A
c.-22+2673T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77913508
chrX:77913509 C
C
 A
A
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-22+2674C>A
c.-22+2674C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77913509
chrX:77913510 A
A
 T
T
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-22+2675A>T
c.-22+2675A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77913510
chrX:77913520 T
T
 C
C
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-22+2685T>C
c.-22+2685T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77913520
chrX:77913617 A
A
 AG
AG
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+2785dupG
c.-22+2785dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77913617
chrX:77913631 C
C
 CT
CT
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+2797dupT
c.-22+2797dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77913631
chrX:77913762 A
A
 AG
AG
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+2929dupG
c.-22+2929dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77913762
chrX:77913824 G
G
 A
A
 1 a0002c0002t0003g0035
a0002c0002t0003g0035
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-22+2989G>A
c.-22+2989G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77913824
chrX:77914078 C
C
 T
T
 136 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(133): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0002c0002t0002g0195
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0011c0015t0005g0127
a0013c0011t0007g0175
a0014c0017t0004g0189
 136 HG00140.hp1
HG00280.hp1
HG00558.hp2
others(133): Show 
HG00140.hp1
HG00280.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00733.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp1
HG01517.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18969.hp1
NA18970.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19083.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+3243C>T
c.-22+3243C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77914078
chrX:77914216 C
C
 G
G
 1 a0001c0001t0005g0217
a0001c0001t0005g0217
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-22+3381C>G
c.-22+3381C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77914216
chrX:77914548 C
C
 T
T
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+3713C>T
c.-22+3713C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77914548
chrX:77914572 G
G
 A
A
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-22+3737G>A
c.-22+3737G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77914572
chrX:77914921 TG
TG
 T
T
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+4088delG
c.-22+4088delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77914921
chrX:77915274 C
C
 T
T
 79 a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
others(76): Show 
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0004g0027
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0019g0184
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0002c0002t0002g0195
a0013c0011t0007g0175
a0014c0017t0004g0189
 79 HG00140.hp1
HG00280.hp1
HG00597.hp2
others(76): Show 
HG00140.hp1
HG00280.hp1
HG00597.hp2
HG00642.hp1
HG00733.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp1
HG01517.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02132.hp1
HG02145.hp1
HG02273.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02897.hp1
HG03017.hp1
HG03195.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18947.hp1
NA18949.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18961.hp1
NA18969.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18984.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19003.hp1
NA19011.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19070.hp1
NA19074.hp1
NA19083.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+4439C>T
c.-22+4439C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77915274
chrX:77915328 G
G
 GA
GA
 6 a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0004g0220
others(3): Show 
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0004g0220
a0001c0001t0005g0224
a0002c0002t0002g0037
a0002c0002t0003g0036
 6 HG00621.hp1
HG02738.hp1
HG03516.hp1
others(3): Show 
HG00621.hp1
HG02738.hp1
HG03516.hp1
NA18949.hp1
NA19030.hp1
NA19056.hp1
 intron_variant MODIFIER c.-22+4506dupA
c.-22+4506dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77915328
chrX:77915425 G
G
 A
A
 2 a0005c0006t0008g0119
a0005c0006t0008g0120
a0005c0006t0008g0119
a0005c0006t0008g0120
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 intron_variant MODIFIER c.-22+4590G>A
c.-22+4590G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77915425
chrX:77915881 C
C
 T
T
 1 a0002c0002t0003g0117
a0002c0002t0003g0117
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-22+5046C>T
c.-22+5046C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77915881
chrX:77915891 A
A
 G
G
 1 a0002c0002t0002g0116
a0002c0002t0002g0116
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.-22+5056A>G
c.-22+5056A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77915891
chrX:77916030 C
C
 T
T
 1 a0001c0001t0007g0021
a0001c0001t0007g0021
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+5195C>T
c.-22+5195C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77916030
chrX:77916354 C
C
 CA
CA
 10 a0001c0001t0001g0005
a0001c0001t0004g0152
a0001c0001t0004g0153
others(7): Show 
a0001c0001t0001g0005
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0011g0225
a0002c0002t0003g0038
 10 HG01255.hp1
HG02071.hp1
HG02559.hp2
others(7): Show 
HG01255.hp1
HG02071.hp1
HG02559.hp2
HG02895.hp1
HG02897.hp2
HG03209.hp1
HG03471.hp1
NA18965.hp1
NA18990.hp1
NA19067.hp1
 intron_variant MODIFIER c.-22+5536dupA
c.-22+5536dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77916354
chrX:77916549 T
T
 C
C
 1 a0002c0002t0003g0039
a0002c0002t0003g0039
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.-22+5714T>C
c.-22+5714T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77916549
chrX:77917075 C
C
 T
T
 1 a0002c0002t0003g0115
a0002c0002t0003g0115
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-22+6240C>T
c.-22+6240C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77917075
chrX:77917126 A
A
 T
T
 4 a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
others(1): Show 
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
 4 HG01074.hp1
HG01433.hp1
HG01515.hp1
others(1): Show 
HG01074.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.-22+6291A>T
c.-22+6291A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77917126
chrX:77917645 T
T
 C
C
 6 a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
others(3): Show 
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0005c0006t0008g0119
a0005c0006t0008g0120
 6 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+6810T>C
c.-22+6810T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77917645
chrX:77917674 C
C
 T
T
 12 a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
others(9): Show 
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0009c0010t0026g0104
 13 HG00438.hp1
NA18944.hp1
NA18945.hp1
others(10): Show 
HG00438.hp1
NA18944.hp1
NA18945.hp1
NA18953.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18994.hp1
NA19004.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19076.hp1
 intron_variant MODIFIER c.-22+6839C>T
c.-22+6839C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77917674
chrX:77917690 G
G
 A
A
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+6855G>A
c.-22+6855G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77917690
chrX:77918066 C
C
 CT
CT
 6 a0001c0001t0001g0216
a0001c0001t0004g0154
a0001c0001t0005g0228
others(3): Show 
a0001c0001t0001g0216
a0001c0001t0004g0154
a0001c0001t0005g0228
a0002c0002t0002g0037
a0002c0002t0002g0223
a0002c0002t0003g0024
 6 HG00621.hp1
HG00738.hp1
HG02135.hp1
others(3): Show 
HG00621.hp1
HG00738.hp1
HG02135.hp1
HG03195.hp1
NA19001.hp2
NA19067.hp1
 intron_variant MODIFIER c.-22+7249dupT
c.-22+7249dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77918066
chrX:77918066 CT
CT
 C
C
 6 a0001c0001t0001g0041
a0001c0001t0005g0010
a0001c0001t0005g0125
others(3): Show 
a0001c0001t0001g0041
a0001c0001t0005g0010
a0001c0001t0005g0125
a0002c0002t0002g0040
a0002c0002t0003g0029
a0002c0002t0003g0221
 6 HG01074.hp1
HG03239.hp1
NA18906.hp1
others(3): Show 
HG01074.hp1
HG03239.hp1
NA18906.hp1
NA18954.hp1
NA18962.hp1
NA19055.hp1
 intron_variant MODIFIER c.-22+7249delT
c.-22+7249delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77918066
chrX:77918454 A
A
 C
C
 1 a0001c0001t0005g0149
a0001c0001t0005g0149
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.-22+7619A>C
c.-22+7619A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77918454
chrX:77918717 T
T
 C
C
 1 a0001c0001t0001g0155
a0001c0001t0001g0155
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.-22+7882T>C
c.-22+7882T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77918717
chrX:77918741 G
G
 GT
GT
 1 a0001c0001t0005g0003
a0001c0001t0005g0003
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.-22+7907dupT
c.-22+7907dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77918741
chrX:77919228 T
T
 C
C
 1 a0002c0002t0002g0042
a0002c0002t0002g0042
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.-22+8393T>C
c.-22+8393T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77919228
chrX:77919449 TA
TA
 T
T
 1 a0001c0001t0004g0215
a0001c0001t0004g0215
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.-22+8622delA
c.-22+8622delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77919449
chrX:77919661 T
T
 C
C
 1 a0001c0001t0028g0011
a0001c0001t0028g0011
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-22+8826T>C
c.-22+8826T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77919661
chrX:77919768 G
G
 A
A
 2 a0002c0002t0002g0223
a0003c0003t0002g0043
a0002c0002t0002g0223
a0003c0003t0002g0043
 2 HG02135.hp1
HG02165.hp1
HG02135.hp1
HG02165.hp1
 intron_variant MODIFIER c.-22+8933G>A
c.-22+8933G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77919768
chrX:77919934 C
C
 A
A
 2 a0001c0001t0005g0126
a0011c0015t0005g0127
a0001c0001t0005g0126
a0011c0015t0005g0127
 2 HG02717.hp1
HG03540.hp2
HG02717.hp1
HG03540.hp2
 intron_variant MODIFIER c.-22+9099C>A
c.-22+9099C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77919934
chrX:77920219 A
A
 AT
AT
 8 a0001c0001t0004g0154
a0001c0001t0004g0214
a0001c0001t0005g0003
others(5): Show 
a0001c0001t0004g0154
a0001c0001t0004g0214
a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0024g0213
a0002c0002t0002g0103
a0002c0002t0003g0035
a0007c0016t0007g0231
 8 HG00597.hp2
HG02486.hp1
HG02572.hp1
others(5): Show 
HG00597.hp2
HG02486.hp1
HG02572.hp1
HG02647.hp1
HG02683.hp1
NA19030.hp2
NA19067.hp1
NA19083.hp1
 intron_variant MODIFIER c.-22+9398dupT
c.-22+9398dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77920219
chrX:77920219 AT
AT
 A
A
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-22+9398delT
c.-22+9398delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77920219
chrX:77920247 G
G
 A
A
 2 a0001c0001t0001g0216
a0001c0001t0004g0229
a0001c0001t0001g0216
a0001c0001t0004g0229
 2 HG03195.hp1
NA19064.hp1
HG03195.hp1
NA19064.hp1
 intron_variant MODIFIER c.-22+9412G>A
c.-22+9412G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920247
chrX:77920381 A
A
 G
G
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-22+9546A>G
c.-22+9546A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920381
chrX:77920407 C
C
 G
G
 5 a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
others(2): Show 
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 5 HG02165.hp2
NA18949.hp2
NA18965.hp1
others(2): Show 
HG02165.hp2
NA18949.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.-22+9572C>G
c.-22+9572C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920407
chrX:77920438 T
T
 C
C
 231 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(228): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 232 HG00140.hp1
HG00280.hp1
HG00438.hp1
others(229): Show 
HG00140.hp1
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+9603T>C
c.-22+9603T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920438
chrX:77920507 G
G
 A
A
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.-22+9672G>A
c.-22+9672G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920507
chrX:77920538 C
C
 T
T
 1 a0001c0001t0001g0212
a0001c0001t0001g0212
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.-22+9703C>T
c.-22+9703C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920538
chrX:77920601 G
G
 A
A
 3 a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
 3 HG02615.hp1
HG02886.hp2
NA18906.hp2
HG02615.hp1
HG02886.hp2
NA18906.hp2
 intron_variant MODIFIER c.-22+9766G>A
c.-22+9766G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920601
chrX:77920849 G
G
 T
T
 95 a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
others(92): Show 
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0004g0027
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0019g0184
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0002c0002t0002g0195
a0010c0012t0001g0089
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 95 HG00140.hp1
HG00280.hp1
HG00544.hp1
others(92): Show 
HG00140.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp1
HG00597.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01169.hp1
HG01192.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp1
HG01517.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02273.hp1
HG02683.hp2
HG02735.hp1
HG02738.hp1
HG02897.hp1
HG03017.hp1
HG03195.hp1
HG03490.hp1
HG03492.hp1
HG03688.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18942.hp2
NA18947.hp1
NA18949.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18961.hp1
NA18969.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp1
NA19083.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+10014G>T
c.-22+10014G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920849
chrX:77920925 C
C
 CA
CA
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+10091dupA
c.-22+10091dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77920925
chrX:77920972 TA
TA
 T
T
 1 a0001c0001t0005g0147
a0001c0001t0005g0147
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-22+10138delA
c.-22+10138delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77920972
chrX:77921222 G
G
 A
A
 5 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
others(2): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.-22+10387G>A
c.-22+10387G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77921222
chrX:77921337 GT
GT
 G
G
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+10505delT
c.-22+10505delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77921337
chrX:77921682 C
C
 T
T
 13 a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
others(10): Show 
a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0016g0084
a0008c0009t0003g0078
 13 HG00735.hp2
HG00738.hp1
HG01884.hp1
others(10): Show 
HG00735.hp2
HG00738.hp1
HG01884.hp1
HG02451.hp2
HG02559.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03453.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.-22+10847C>T
c.-22+10847C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77921682
chrX:77921740 TA
TA
 T
T
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+10911delA
c.-22+10911delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77921740
chrX:77921889 G
G
 A
A
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+11054G>A
c.-22+11054G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77921889
chrX:77921913 T
T
 TA
TA
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+11083dupA
c.-22+11083dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77921913
chrX:77921987 G
G
 A
A
 2 a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0044
a0002c0002t0002g0045
 2 NA18952.hp1
NA19066.hp1
NA18952.hp1
NA19066.hp1
 intron_variant MODIFIER c.-22+11152G>A
c.-22+11152G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77921987
chrX:77921992 G
G
 A
A
 1 a0002c0002t0003g0046
a0002c0002t0003g0046
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+11157G>A
c.-22+11157G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77921992
chrX:77922143 T
T
 A
A
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-22+11308T>A
c.-22+11308T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77922143
chrX:77922310 GC
GC
 G
G
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.-22+11477delC
c.-22+11477delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77922310
chrX:77923567 T
T
 C
C
 3 a0001c0001t0005g0013
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0005g0013
a0001c0001t0010g0012
a0001c0001t0020g0014
 3 HG02615.hp2
HG02809.hp1
HG03225.hp1
HG02615.hp2
HG02809.hp1
HG03225.hp1
 intron_variant MODIFIER c.-22+12732T>C
c.-22+12732T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77923567
chrX:77923568 T
T
 C
C
 1 a0002c0002t0003g0039
a0002c0002t0003g0039
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.-22+12733T>C
c.-22+12733T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77923568
chrX:77923571 C
C
 T
T
 7 a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
others(4): Show 
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0230
 7 HG01169.hp1
HG01261.hp1
HG01358.hp1
others(4): Show 
HG01169.hp1
HG01261.hp1
HG01358.hp1
HG01952.hp1
HG02273.hp1
HG03831.hp1
NA20300.hp2
 intron_variant MODIFIER c.-22+12736C>T
c.-22+12736C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77923571
chrX:77923579 CT
CT
 C
C
 8 a0001c0001t0001g0156
a0001c0001t0004g0206
a0001c0001t0005g0013
others(5): Show 
a0001c0001t0001g0156
a0001c0001t0004g0206
a0001c0001t0005g0013
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0024g0213
a0001c0001t0028g0011
 8 HG01169.hp1
HG02615.hp2
HG02809.hp1
others(5): Show 
HG01169.hp1
HG02615.hp2
HG02809.hp1
HG02970.hp1
HG03225.hp1
NA18961.hp1
NA19083.hp1
NA20300.hp1
 intron_variant MODIFIER c.-22+12757delT
c.-22+12757delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77923579
chrX:77923950 A
A
 G
G
 1 a0002c0002t0002g0077
a0002c0002t0002g0077
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.-22+13115A>G
c.-22+13115A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77923950
chrX:77924065 A
A
 AC
AC
 1 a0001c0001t0001g0157
a0001c0001t0001g0157
 1 HG01496.hp1
HG01496.hp1
 intron_variant MODIFIER c.-22+13232dupC
c.-22+13232dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77924065
chrX:77925108 TG
TG
 T
T
 1 a0003c0003t0002g0047
a0003c0003t0002g0047
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-22+14275delG
c.-22+14275delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925108
chrX:77925228 T
T
 TA
TA
 1 a0003c0003t0002g0047
a0003c0003t0002g0047
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-22+14398dupA
c.-22+14398dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925228
chrX:77925228 TA
TA
 T
T
 1 a0002c0002t0012g0114
a0002c0002t0012g0114
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.-22+14398delA
c.-22+14398delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925228
chrX:77925263 GT
GT
 G
G
 1 a0003c0003t0002g0047
a0003c0003t0002g0047
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-22+14430delT
c.-22+14430delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925263
chrX:77925271 CT
CT
 C
C
 1 a0003c0003t0002g0047
a0003c0003t0002g0047
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-22+14439delT
c.-22+14439delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925271
chrX:77925274 TA
TA
 T
T
 1 a0001c0001t0007g0008
a0001c0001t0007g0008
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.-22+14447delA
c.-22+14447delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925274
chrX:77925278 A
A
 G
G
 24 a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
others(21): Show 
a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0011c0015t0005g0127
 24 HG00558.hp2
HG01167.hp1
HG01169.hp2
others(21): Show 
HG00558.hp2
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02451.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03041.hp1
HG03540.hp2
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.-22+14443A>G
c.-22+14443A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77925278
chrX:77925448 CT
CT
 C
C
 1 a0003c0003t0002g0047
a0003c0003t0002g0047
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-22+14618delT
c.-22+14618delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925448
chrX:77925507 G
G
 T
T
 33 a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0010
others(30): Show 
a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0006c0007t0005g0138
a0011c0015t0005g0127
 33 HG00558.hp2
HG01109.hp1
HG01167.hp1
others(30): Show 
HG00558.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp1
HG02602.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG04184.hp1
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-22+14672G>T
c.-22+14672G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77925507
chrX:77925513 G
G
 T
T
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 HG03017.hp1
HG03017.hp1
 intron_variant MODIFIER c.-22+14678G>T
c.-22+14678G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77925513
chrX:77925542 G
G
 A
A
 1 a0002c0002t0002g0048
a0002c0002t0002g0048
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.-22+14707G>A
c.-22+14707G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77925542
chrX:77925810 G
G
 A
A
 3 a0001c0001t0001g0160
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0001t0001g0160
a0001c0005t0001g0158
a0001c0005t0001g0159
 3 NA18954.hp2
NA18969.hp1
NA18984.hp1
NA18954.hp2
NA18969.hp1
NA18984.hp1
 intron_variant MODIFIER c.-22+14975G>A
c.-22+14975G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77925810
chrX:77925918 C
C
 CT
CT
 14 a0001c0001t0001g0005
a0001c0001t0001g0025
a0001c0001t0001g0034
others(11): Show 
a0001c0001t0001g0005
a0001c0001t0001g0025
a0001c0001t0001g0034
a0001c0001t0001g0088
a0001c0001t0001g0157
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0004g0207
a0001c0001t0004g0229
a0001c0001t0005g0148
a0001c0001t0021g0163
a0001c0001t0028g0011
a0002c0002t0002g0103
a0002c0002t0003g0087
 14 HG01496.hp1
HG01517.hp1
HG02273.hp1
others(11): Show 
HG01496.hp1
HG01517.hp1
HG02273.hp1
HG02683.hp1
HG02683.hp2
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG03927.hp1
NA18942.hp2
NA18949.hp2
NA19011.hp1
NA19064.hp1
NA19065.hp2
 intron_variant MODIFIER c.-22+15096dupT
c.-22+15096dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925918
chrX:77925918 C
C
 CTT
CTT
 129 a0001c0001t0001g0022
a0001c0001t0001g0026
a0001c0001t0001g0033
others(126): Show 
a0001c0001t0001g0022
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0041
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0002c0002t0002g0195
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0007c0016t0007g0231
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 129 HG00140.hp1
HG00280.hp1
HG00544.hp1
others(126): Show 
HG00140.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19083.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+15095_-22+1509
others(6): Show 
c.-22+15095_-22+15096dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925918
chrX:77925918 C
C
 CTTT
CTTT
 9 a0001c0001t0001g0139
a0001c0001t0005g0137
a0001c0001t0005g0140
others(6): Show 
a0001c0001t0001g0139
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0014t0005g0146
a0006c0007t0005g0138
 9 HG01109.hp1
HG02015.hp1
HG02280.hp2
others(6): Show 
HG01109.hp1
HG02015.hp1
HG02280.hp2
HG02602.hp1
HG02965.hp1
HG03239.hp2
HG03516.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.-22+15094_-22+1509
others(7): Show 
c.-22+15094_-22+15096dupTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77925918
chrX:77926036 GT
GT
 G
G
 1 a0003c0003t0002g0047
a0003c0003t0002g0047
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-22+15205delT
c.-22+15205delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77926036
chrX:77926337 T
T
 A
A
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+15502T>A
c.-22+15502T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77926337
chrX:77926377 G
G
 A
A
 1 a0002c0002t0002g0037
a0002c0002t0002g0037
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.-22+15542G>A
c.-22+15542G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77926377
chrX:77926589 C
C
 T
T
 1 a0001c0001t0025g0204
a0001c0001t0025g0204
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.-22+15754C>T
c.-22+15754C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77926589
chrX:77926707 A
A
 AT
AT
 1 a0001c0001t0008g0124
a0001c0001t0008g0124
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-22+15885dupT
c.-22+15885dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77926707
chrX:77926725 TG
TG
 T
T
 1 a0003c0003t0002g0047
a0003c0003t0002g0047
 1 NA19003.hp2
NA19003.hp2
 intron_variant MODIFIER c.-22+15892delG
c.-22+15892delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77926725
chrX:77926764 G
G
 A
A
 1 a0010c0012t0001g0089
a0010c0012t0001g0089
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.-22+15929G>A
c.-22+15929G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77926764
chrX:77927048 C
C
 T
T
 2 a0001c0001t0001g0139
a0001c0001t0005g0140
a0001c0001t0001g0139
a0001c0001t0005g0140
 2 HG02602.hp1
HG04184.hp1
HG02602.hp1
HG04184.hp1
 intron_variant MODIFIER c.-22+16213C>T
c.-22+16213C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77927048
chrX:77927049 C
C
 T
T
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-22+16214C>T
c.-22+16214C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77927049
chrX:77927071 T
T
 C
C
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.-22+16236T>C
c.-22+16236T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77927071
chrX:77927750 A
A
 G
G
 1 a0002c0002t0018g0076
a0002c0002t0018g0076
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-22+16915A>G
c.-22+16915A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77927750
chrX:77927875 G
G
 A
A
 1 a0001c0001t0010g0141
a0001c0001t0010g0141
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-22+17040G>A
c.-22+17040G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77927875
chrX:77927883 G
G
 GT
GT
 1 a0002c0002t0012g0114
a0002c0002t0012g0114
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.-22+17055dupT
c.-22+17055dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77927883
chrX:77928283 T
T
 G
G
 5 a0001c0001t0001g0005
a0001c0001t0007g0004
a0001c0001t0007g0006
others(2): Show 
a0001c0001t0001g0005
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
 5 HG02559.hp2
HG02895.hp1
HG02897.hp2
others(2): Show 
HG02559.hp2
HG02895.hp1
HG02897.hp2
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.-22+17448T>G
c.-22+17448T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77928283
chrX:77928405 TAC
TAC
 T
T
 150 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0026
others(147): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0002c0002t0002g0195
a0002c0002t0013g0075
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 150 HG00140.hp1
HG00280.hp1
HG00544.hp1
others(147): Show 
HG00140.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp1
HG01517.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18942.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19083.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+17585_-22+1758
others(6): Show 
c.-22+17585_-22+17586delAC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77928405
chrX:77929244 C
C
 T
T
 1 a0002c0002t0002g0074
a0002c0002t0002g0074
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.-22+18409C>T
c.-22+18409C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77929244
chrX:77929495 C
C
 G
G
 2 a0002c0002t0002g0223
a0003c0003t0002g0043
a0002c0002t0002g0223
a0003c0003t0002g0043
 2 HG02135.hp1
HG02165.hp1
HG02135.hp1
HG02165.hp1
 intron_variant MODIFIER c.-22+18660C>G
c.-22+18660C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77929495
chrX:77929611 AT
AT
 A
A
 1 a0001c0001t0007g0008
a0001c0001t0007g0008
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.-22+18780delT
c.-22+18780delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77929611
chrX:77929636 C
C
 CT
CT
 12 a0001c0001t0001g0005
a0001c0001t0005g0003
a0001c0001t0005g0013
others(9): Show 
a0001c0001t0001g0005
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0002c0002t0003g0087
 12 HG02559.hp2
HG02572.hp1
HG02615.hp2
others(9): Show 
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02897.hp2
HG02970.hp1
HG02970.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+18816dupT
c.-22+18816dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77929636
chrX:77929636 CT
CT
 C
C
 4 a0001c0001t0001g0168
a0001c0001t0004g0166
a0001c0001t0004g0167
others(1): Show 
a0001c0001t0001g0168
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0011g0226
 4 NA18951.hp2
NA18959.hp1
NA19074.hp1
others(1): Show 
NA18951.hp2
NA18959.hp1
NA19074.hp1
NA19074.hp2
 intron_variant MODIFIER c.-22+18816delT
c.-22+18816delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77929636
chrX:77929809 T
T
 TC
TC
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+18976dupC
c.-22+18976dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77929809
chrX:77929849 C
C
 T
T
 1 a0001c0001t0001g0155
a0001c0001t0001g0155
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.-22+19014C>T
c.-22+19014C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77929849
chrX:77929976 A
A
 C
C
 1 a0002c0002t0018g0076
a0002c0002t0018g0076
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-22+19141A>C
c.-22+19141A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77929976
chrX:77930001 A
A
 C
C
 23 a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0088
others(20): Show 
a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0156
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0202
a0001c0001t0021g0163
a0001c0001t0024g0213
a0010c0012t0001g0089
a0012c0013t0017g0102
 23 HG00544.hp1
HG00558.hp1
HG00673.hp1
others(20): Show 
HG00544.hp1
HG00558.hp1
HG00673.hp1
HG02129.hp1
NA18612.hp1
NA18747.hp1
NA18942.hp2
NA18951.hp2
NA18961.hp1
NA18971.hp1
NA18983.hp1
NA18985.hp1
NA18995.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19055.hp1
NA19065.hp2
NA19068.hp1
NA19075.hp1
NA19083.hp1
 intron_variant MODIFIER c.-22+19166A>C
c.-22+19166A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77930001
chrX:77930231 G
G
 A
A
 6 a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0140
others(3): Show 
a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
 6 HG02602.hp1
HG02965.hp1
HG03239.hp2
others(3): Show 
HG02602.hp1
HG02965.hp1
HG03239.hp2
HG03579.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.-22+19396G>A
c.-22+19396G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77930231
chrX:77930408 T
T
 TC
TC
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+19576dupC
c.-22+19576dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77930408
chrX:77930490 GA
GA
 G
G
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+19659delA
c.-22+19659delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77930490
chrX:77930514 G
G
 A
A
 5 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
others(2): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.-22+19679G>A
c.-22+19679G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77930514
chrX:77930563 T
T
 C
C
 2 a0005c0006t0008g0119
a0005c0006t0008g0120
a0005c0006t0008g0119
a0005c0006t0008g0120
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 intron_variant MODIFIER c.-22+19728T>C
c.-22+19728T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77930563
chrX:77930587 T
T
 TG
TG
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+19755dupG
c.-22+19755dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77930587
chrX:77930748 T
T
 G
G
 1 a0002c0002t0003g0035
a0002c0002t0003g0035
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-22+19913T>G
c.-22+19913T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77930748
chrX:77930985 C
C
 CT
CT
 10 a0001c0001t0001g0118
a0001c0001t0001g0151
a0001c0001t0001g0156
others(7): Show 
a0001c0001t0001g0118
a0001c0001t0001g0151
a0001c0001t0001g0156
a0001c0001t0001g0201
a0001c0001t0004g0161
a0001c0001t0004g0200
a0001c0001t0005g0140
a0002c0002t0006g0113
a0002c0002t0014g0073
a0006c0007t0005g0138
 10 HG02280.hp2
HG02738.hp1
HG04115.hp1
others(7): Show 
HG02280.hp2
HG02738.hp1
HG04115.hp1
HG04184.hp1
NA18942.hp1
NA18961.hp1
NA18975.hp1
NA18975.hp2
NA19000.hp1
NA19088.hp1
 intron_variant MODIFIER c.-22+20171dupT
c.-22+20171dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77930985
chrX:77930985 C
C
 CTT
CTT
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+20170_-22+2017
others(6): Show 
c.-22+20170_-22+20171dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77930985
chrX:77931006 T
T
 A
A
 12 a0001c0001t0001g0090
a0001c0001t0001g0139
a0001c0001t0001g0170
others(9): Show 
a0001c0001t0001g0090
a0001c0001t0001g0139
a0001c0001t0001g0170
a0001c0001t0004g0169
a0001c0001t0005g0010
a0001c0001t0005g0128
a0001c0001t0010g0012
a0002c0002t0002g0049
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0006g0105
a0003c0003t0002g0047
 12 HG01074.hp1
HG02602.hp1
HG02615.hp2
others(9): Show 
HG01074.hp1
HG02602.hp1
HG02615.hp2
HG02886.hp2
HG04184.hp2
NA18612.hp1
NA18951.hp1
NA18962.hp1
NA18988.hp1
NA19003.hp2
NA19058.hp1
NA19076.hp1
 intron_variant MODIFIER c.-22+20171T>A
c.-22+20171T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931006
chrX:77931007 A
A
 C
C
 12 a0001c0001t0001g0090
a0001c0001t0001g0139
a0001c0001t0001g0170
others(9): Show 
a0001c0001t0001g0090
a0001c0001t0001g0139
a0001c0001t0001g0170
a0001c0001t0004g0169
a0001c0001t0005g0010
a0001c0001t0005g0128
a0001c0001t0010g0012
a0002c0002t0002g0049
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0006g0105
a0003c0003t0002g0047
 12 HG01074.hp1
HG02602.hp1
HG02615.hp2
others(9): Show 
HG01074.hp1
HG02602.hp1
HG02615.hp2
HG02886.hp2
HG04184.hp2
NA18612.hp1
NA18951.hp1
NA18962.hp1
NA18988.hp1
NA19003.hp2
NA19058.hp1
NA19076.hp1
 intron_variant MODIFIER c.-22+20172A>C
c.-22+20172A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931007
chrX:77931009 C
C
 CT
CT
 219 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(216): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0088
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 220 HG00140.hp1
HG00280.hp1
HG00438.hp1
others(217): Show 
HG00140.hp1
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+20183dupT
c.-22+20183dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931009
chrX:77931009 C
C
 T
T
 12 a0001c0001t0001g0090
a0001c0001t0001g0139
a0001c0001t0001g0170
others(9): Show 
a0001c0001t0001g0090
a0001c0001t0001g0139
a0001c0001t0001g0170
a0001c0001t0004g0169
a0001c0001t0005g0010
a0001c0001t0005g0128
a0001c0001t0010g0012
a0002c0002t0002g0049
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0006g0105
a0003c0003t0002g0047
 12 HG01074.hp1
HG02602.hp1
HG02615.hp2
others(9): Show 
HG01074.hp1
HG02602.hp1
HG02615.hp2
HG02886.hp2
HG04184.hp2
NA18612.hp1
NA18951.hp1
NA18962.hp1
NA18988.hp1
NA19003.hp2
NA19058.hp1
NA19076.hp1
 intron_variant MODIFIER c.-22+20174C>T
c.-22+20174C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931009
chrX:77931019 A
A
 T
T
 2 a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0017
a0001c0001t0007g0018
 2 HG01243.hp1
HG03453.hp1
HG01243.hp1
HG03453.hp1
 intron_variant MODIFIER c.-22+20184A>T
c.-22+20184A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931019
chrX:77931220 C
C
 A
A
 1 a0002c0002t0003g0035
a0002c0002t0003g0035
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-22+20385C>A
c.-22+20385C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931220
chrX:77931221 G
G
 A
A
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+20386G>A
c.-22+20386G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931221
chrX:77931341 G
G
 A
A
 2 a0001c0001t0021g0163
a0001c0001t0024g0213
a0001c0001t0021g0163
a0001c0001t0024g0213
 2 NA19011.hp1
NA19083.hp1
NA19011.hp1
NA19083.hp1
 intron_variant MODIFIER c.-22+20506G>A
c.-22+20506G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931341
chrX:77931391 GAA
GAA
 G
G
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+20559_-22+2056
others(6): Show 
c.-22+20559_-22+20560delAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931391
chrX:77931541 A
A
 AG
AG
 1 a0002c0002t0003g0030
a0002c0002t0003g0030
 1 HG01433.hp1
HG01433.hp1
 intron_variant MODIFIER c.-22+20711dupG
c.-22+20711dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931541
chrX:77931602 G
G
 GC
GC
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+20771dupC
c.-22+20771dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931602
chrX:77931636 C
C
 CG
CG
 1 a0002c0002t0018g0076
a0002c0002t0018g0076
 1 HG00544.hp2
HG00544.hp2
 intron_variant MODIFIER c.-22+20807dupG
c.-22+20807dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931636
chrX:77931636 C
C
 T
T
 2 a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0008g0123
a0001c0001t0008g0124
 2 HG02922.hp2
HG03195.hp2
HG02922.hp2
HG03195.hp2
 intron_variant MODIFIER c.-22+20801C>T
c.-22+20801C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931636
chrX:77931637 G
G
 C
C
 3 a0001c0001t0005g0013
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0005g0013
a0001c0001t0010g0012
a0001c0001t0020g0014
 3 HG02615.hp2
HG02809.hp1
HG03225.hp1
HG02615.hp2
HG02809.hp1
HG03225.hp1
 intron_variant MODIFIER c.-22+20802G>C
c.-22+20802G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931637
chrX:77931650 GCCCACCT
others(171): Show 
GCCCACCTCCCTCCCGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCA
CTTCCCAGTAGGGGCGGCTGGGCAGAGGCACCCCTCACCTCCCGGACGGG
GCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCCTGGACGGG
GCGGCTGGCCGGGCGGGGGGCTGACCCCC
 G
G
 1 a0001c0001t0010g0012
a0001c0001t0010g0012
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.-22+20838_-22+2101
others(4): Show 
c.-22+20838_-22+21015del
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931650
chrX:77931668 C
C
 CG
CG
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+20837dupG
c.-22+20837dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931668
chrX:77931668 C
C
 T
T
 1 a0004c0004t0009g0135
a0004c0004t0009g0135
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-22+20833C>T
c.-22+20833C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931668
chrX:77931707 G
G
 C
C
 1 a0001c0001t0003g0015
a0001c0001t0003g0015
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.-22+20872G>C
c.-22+20872G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931707
chrX:77931714 C
C
 T
T
 3 a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
 3 NA18943.hp1
NA18969.hp2
NA19064.hp2
NA18943.hp1
NA18969.hp2
NA19064.hp2
 intron_variant MODIFIER c.-22+20879C>T
c.-22+20879C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931714
chrX:77931741 C
C
 G
G
 1 a0002c0002t0002g0072
a0002c0002t0002g0072
 1 NA18943.hp1
NA18943.hp1
 intron_variant MODIFIER c.-22+20906C>G
c.-22+20906C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931741
chrX:77931742 CGGACGGG
others(43): Show 
CGGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCCACCTCCCTCC
T
 C
C
 1 a0001c0001t0005g0142
a0001c0001t0005g0142
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.-22+20928_-22+2097
others(54): Show 
c.-22+20928_-22+20977delTGGGGGGCTGACCCCCCCCACCTCCC
TCCTGGACGGGGCGGCTGGCCGGG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931742
chrX:77931823 A
A
 AC
AC
 4 a0001c0001t0004g0165
a0002c0002t0002g0037
a0002c0002t0002g0223
others(1): Show 
a0001c0001t0004g0165
a0002c0002t0002g0037
a0002c0002t0002g0223
a0002c0002t0003g0030
 4 HG00621.hp1
HG01433.hp1
HG02135.hp1
others(1): Show 
HG00621.hp1
HG01433.hp1
HG02135.hp1
NA18947.hp1
 intron_variant MODIFIER c.-22+20996dupC
c.-22+20996dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931823
chrX:77931823 A
A
 ACC
ACC
 1 a0001c0001t0005g0145
a0001c0001t0005g0145
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.-22+20995_-22+2099
others(6): Show 
c.-22+20995_-22+20996dupCC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931823
chrX:77931823 AC
AC
 A
A
 2 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0015
a0001c0001t0003g0016
 2 HG03041.hp2
NA20129.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.-22+20996delC
c.-22+20996delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931823
chrX:77931833 C
C
 CCTCCCTC
others(120): Show 
CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC
CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACCGGGCGGC
TGGCTGGGCGGGGGGCTGACCCCCCCAT
 1 a0002c0002t0002g0068
a0002c0002t0002g0068
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.-22+21124_-22+2112
others(131): Show 
c.-22+21124_-22+21125insTCTCCCTCCCGGACGGGGCGGCTGGC
CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC
CCCTCACCTCCCGGACCGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCC
A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931833
chrX:77931842 C
C
 T
T
 6 a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
others(3): Show 
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0005c0006t0008g0119
a0005c0006t0008g0120
 6 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+21007C>T
c.-22+21007C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931842
chrX:77931847 G
G
 A
A
 1 a0008c0009t0003g0078
a0008c0009t0003g0078
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.-22+21012G>A
c.-22+21012G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931847
chrX:77931870 G
G
 C
C
 1 a0002c0002t0003g0046
a0002c0002t0003g0046
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.-22+21035G>C
c.-22+21035G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931870
chrX:77931921 G
G
 T
T
 2 a0001c0001t0004g0153
a0001c0001t0004g0219
a0001c0001t0004g0153
a0001c0001t0004g0219
 2 NA18955.hp1
NA18990.hp1
NA18955.hp1
NA18990.hp1
 intron_variant MODIFIER c.-22+21086G>T
c.-22+21086G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931921
chrX:77931951 A
A
 AC
AC
 2 a0002c0002t0002g0069
a0012c0013t0017g0102
a0002c0002t0002g0069
a0012c0013t0017g0102
 2 HG02056.hp1
NA18985.hp1
HG02056.hp1
NA18985.hp1
 intron_variant MODIFIER c.-22+21123dupC
c.-22+21123dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77931951
chrX:77931972 AC
AC
 A
A
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+21138delC
c.-22+21138delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77931972
chrX:77932000 A
A
 AC
AC
 3 a0001c0001t0001g0025
a0001c0001t0001g0203
a0002c0002t0002g0023
a0001c0001t0001g0025
a0001c0001t0001g0203
a0002c0002t0002g0023
 3 HG01934.hp1
HG03927.hp1
HG03927.hp2
HG01934.hp1
HG03927.hp1
HG03927.hp2
 intron_variant MODIFIER c.-22+21172dupC
c.-22+21172dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932000
chrX:77932120 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21285T>C
c.-22+21285T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932120
chrX:77932148 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21313T>C
c.-22+21313T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932148
chrX:77932154 A
A
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21319A>G
c.-22+21319A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932154
chrX:77932161 G
G
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21326G>A
c.-22+21326G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932161
chrX:77932165 G
G
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21330G>A
c.-22+21330G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932165
chrX:77932189 G
G
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21354G>A
c.-22+21354G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932189
chrX:77932194 G
G
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21359G>A
c.-22+21359G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932194
chrX:77932201 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21366C>T
c.-22+21366C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932201
chrX:77932202 A
A
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21367A>G
c.-22+21367A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932202
chrX:77932217 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21382C>T
c.-22+21382C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932217
chrX:77932220 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21385C>T
c.-22+21385C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932220
chrX:77932230 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21395T>C
c.-22+21395T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932230
chrX:77932231 C
C
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21396C>A
c.-22+21396C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932231
chrX:77932234 G
G
 A
A
 1 a0006c0007t0005g0138
a0006c0007t0005g0138
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.-22+21399G>A
c.-22+21399G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932234
chrX:77932234 G
G
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21399G>T
c.-22+21399G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932234
chrX:77932237 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21402C>T
c.-22+21402C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932237
chrX:77932241 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21406C>T
c.-22+21406C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932241
chrX:77932242 A
A
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21407A>G
c.-22+21407A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932242
chrX:77932244 A
A
 AG
AG
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+21411dupG
c.-22+21411dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932244
chrX:77932247 C
C
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21412C>G
c.-22+21412C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932247
chrX:77932257 A
A
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21422A>T
c.-22+21422A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932257
chrX:77932260 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21425C>T
c.-22+21425C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932260
chrX:77932271 G
G
 GGTTGCCA
others(33): Show 
GGTTGCCAGGCAGAGGGTCTCCTCACTTCTCAGATGGGGCA
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21437_-22+2143
others(44): Show 
c.-22+21437_-22+21438insTTGCCAGGCAGAGGGTCTCCTCACTT
CTCAGATGGGGCAG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932271
chrX:77932274 G
G
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21439G>C
c.-22+21439G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932274
chrX:77932275 G
G
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21440G>A
c.-22+21440G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932275
chrX:77932284 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21449T>C
c.-22+21449T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932284
chrX:77932290 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21455C>T
c.-22+21455C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932290
chrX:77932292 A
A
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21457A>G
c.-22+21457A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932292
chrX:77932297 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21462T>C
c.-22+21462T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932297
chrX:77932303 GAT
GAT
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21469_-22+2147
others(6): Show 
c.-22+21469_-22+21470delAT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932303
chrX:77932313 C
C
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21478C>G
c.-22+21478C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932313
chrX:77932322 A
A
 G
G
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21487A>G
c.-22+21487A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932322
chrX:77932329 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21494T>C
c.-22+21494T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932329
chrX:77932333 T
T
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21498T>A
c.-22+21498T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932333
chrX:77932336 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21501C>T
c.-22+21501C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932336
chrX:77932337 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21502T>C
c.-22+21502T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932337
chrX:77932340 ATG
ATG
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21506_-22+2150
others(6): Show 
c.-22+21506_-22+21507delTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932340
chrX:77932343 G
G
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21508G>C
c.-22+21508G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932343
chrX:77932346 T
T
 TG
TG
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21513dupG
c.-22+21513dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932346
chrX:77932357 A
A
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21522A>C
c.-22+21522A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932357
chrX:77932362 G
G
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21527G>A
c.-22+21527G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932362
chrX:77932381 T
T
 TG
TG
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+21549dupG
c.-22+21549dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932381
chrX:77932397 C
C
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+21562C>A
c.-22+21562C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932397
chrX:77932497 C
C
 CG
CG
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+21666dupG
c.-22+21666dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932497
chrX:77932633 C
C
 G
G
 1 a0001c0001t0005g0147
a0001c0001t0005g0147
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-22+21798C>G
c.-22+21798C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932633
chrX:77932740 G
G
 GA
GA
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-22+21911dupA
c.-22+21911dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932740
chrX:77932778 G
G
 A
A
 6 a0001c0001t0004g0154
a0001c0001t0004g0169
a0001c0001t0004g0171
others(3): Show 
a0001c0001t0004g0154
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0200
a0001c0001t0004g0214
a0001c0001t0004g0215
 6 HG00597.hp2
HG02132.hp1
NA18987.hp2
others(3): Show 
HG00597.hp2
HG02132.hp1
NA18987.hp2
NA18988.hp1
NA19000.hp1
NA19067.hp1
 intron_variant MODIFIER c.-22+21943G>A
c.-22+21943G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932778
chrX:77932870 G
G
 T
T
 2 a0005c0006t0008g0119
a0005c0006t0008g0120
a0005c0006t0008g0119
a0005c0006t0008g0120
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 intron_variant MODIFIER c.-22+22035G>T
c.-22+22035G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932870
chrX:77932908 A
A
 AG
AG
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+22078dupG
c.-22+22078dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932908
chrX:77932919 G
G
 GGGGAGA
GGGGAGA
 5 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
others(2): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.-22+22110_-22+2211
others(10): Show 
c.-22+22110_-22+22115dupGGAGAG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932919
chrX:77932919 GGGGAGA
GGGGAGA
 G
G
 10 a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
others(7): Show 
a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0002c0002t0014g0073
a0006c0007t0005g0138
 10 HG01109.hp1
HG02280.hp2
HG02602.hp1
others(7): Show 
HG01109.hp1
HG02280.hp2
HG02602.hp1
HG02965.hp1
HG03239.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA18942.hp1
NA21309.hp1
 intron_variant MODIFIER c.-22+22110_-22+2211
others(10): Show 
c.-22+22110_-22+22115delGGAGAG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77932919
chrX:77932949 A
A
 T
T
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+22114A>T
c.-22+22114A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77932949
chrX:77933379 AT
AT
 A
A
 9 a0001c0001t0001g0005
a0001c0001t0005g0013
a0001c0001t0007g0004
others(6): Show 
a0001c0001t0001g0005
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0029g0019
 9 HG02559.hp2
HG02615.hp2
HG02809.hp1
others(6): Show 
HG02559.hp2
HG02615.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+22546delT
c.-22+22546delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77933379
chrX:77933420 G
G
 A
A
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.-22+22585G>A
c.-22+22585G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77933420
chrX:77934242 C
C
 T
T
 6 a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
others(3): Show 
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0005c0006t0008g0119
a0005c0006t0008g0120
 6 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.-22+23407C>T
c.-22+23407C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77934242
chrX:77934418 G
G
 GA
GA
 2 a0001c0001t0001g0041
a0001c0001t0004g0166
a0001c0001t0001g0041
a0001c0001t0004g0166
 2 NA18959.hp1
NA19055.hp1
NA18959.hp1
NA19055.hp1
 intron_variant MODIFIER c.-22+23591dupA
c.-22+23591dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77934418
chrX:77934567 G
G
 A
A
 1 a0002c0002t0003g0035
a0002c0002t0003g0035
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.-22+23732G>A
c.-22+23732G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77934567
chrX:77934571 C
C
 CT
CT
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.-22+23743dupT
c.-22+23743dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77934571
chrX:77934853 G
G
 GT
GT
 5 a0001c0001t0004g0230
a0001c0001t0027g0198
a0002c0002t0002g0037
others(2): Show 
a0001c0001t0004g0230
a0001c0001t0027g0198
a0002c0002t0002g0037
a0002c0002t0003g0222
a0012c0013t0017g0102
 5 HG00621.hp1
HG03831.hp1
HG03831.hp2
others(2): Show 
HG00621.hp1
HG03831.hp1
HG03831.hp2
HG03942.hp1
NA18985.hp1
 intron_variant MODIFIER c.-22+24034dupT
c.-22+24034dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77934853
chrX:77934853 GT
GT
 G
G
 2 a0001c0001t0001g0172
a0001c0001t0005g0145
a0001c0001t0001g0172
a0001c0001t0005g0145
 2 NA18948.hp1
NA19089.hp1
NA18948.hp1
NA19089.hp1
 intron_variant MODIFIER c.-22+24034delT
c.-22+24034delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77934853
chrX:77934969 C
C
 CT
CT
 1 a0001c0001t0004g0153
a0001c0001t0004g0153
 1 NA18990.hp1
NA18990.hp1
 intron_variant MODIFIER c.-22+24142dupT
c.-22+24142dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77934969
chrX:77935060 C
C
 T
T
 25 a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0088
others(22): Show 
a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0156
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0202
a0001c0001t0004g0165
a0001c0001t0004g0197
a0001c0001t0021g0163
a0001c0001t0024g0213
a0010c0012t0001g0089
a0012c0013t0017g0102
 25 HG00544.hp1
HG00558.hp1
HG00673.hp1
others(22): Show 
HG00544.hp1
HG00558.hp1
HG00673.hp1
HG02129.hp1
NA18612.hp1
NA18747.hp1
NA18942.hp2
NA18947.hp1
NA18951.hp2
NA18961.hp1
NA18971.hp1
NA18977.hp1
NA18983.hp1
NA18985.hp1
NA18995.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19055.hp1
NA19065.hp2
NA19068.hp1
NA19075.hp1
NA19083.hp1
 intron_variant MODIFIER c.-22+24225C>T
c.-22+24225C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77935060
chrX:77935189 A
A
 G
G
 1 a0001c0001t0003g0016
a0001c0001t0003g0016
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.-22+24354A>G
c.-22+24354A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77935189
chrX:77935311 T
T
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+24476T>C
c.-22+24476T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77935311
chrX:77935554 G
G
 A
A
 2 a0001c0001t0001g0162
a0001c0001t0001g0173
a0001c0001t0001g0162
a0001c0001t0001g0173
 2 HG00733.hp1
HG01517.hp1
HG00733.hp1
HG01517.hp1
 intron_variant MODIFIER c.-22+24719G>A
c.-22+24719G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77935554
chrX:77935917 C
C
 T
T
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-22+25082C>T
c.-22+25082C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77935917
chrX:77936323 C
C
 T
T
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-22+25488C>T
c.-22+25488C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77936323
chrX:77936628 T
T
 C
C
 1 a0001c0001t0004g0171
a0001c0001t0004g0171
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-22+25793T>C
c.-22+25793T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77936628
chrX:77937866 TTC
TTC
 T
T
 1 a0005c0006t0008g0119
a0005c0006t0008g0119
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-22+27052_-22+2705
others(6): Show 
c.-22+27052_-22+27053delTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77937866
chrX:77937885 TCTCA
TCTCA
 T
T
 1 a0005c0006t0008g0120
a0005c0006t0008g0120
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.-22+27052_-22+2705
others(8): Show 
c.-22+27052_-22+27055delTCAC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77937885
chrX:77937887 T
T
 TCA
TCA
 15 a0001c0001t0001g0155
a0001c0001t0004g0143
a0001c0001t0004g0174
others(12): Show 
a0001c0001t0001g0155
a0001c0001t0004g0143
a0001c0001t0004g0174
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0005g0010
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
 15 HG00558.hp2
HG02015.hp1
HG02027.hp1
others(12): Show 
HG00558.hp2
HG02015.hp1
HG02027.hp1
HG02165.hp2
HG04204.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18955.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19001.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.-22+27075_-22+2707
others(6): Show 
c.-22+27075_-22+27076dupCA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77937887
chrX:77937887 TCA
TCA
 T
T
 1 a0001c0001t0005g0147
a0001c0001t0005g0147
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-22+27075_-22+2707
others(6): Show 
c.-22+27075_-22+27076delCA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77937887
chrX:77937887 TCACA
TCACA
 T
T
 2 a0001c0001t0001g0139
a0001c0001t0005g0140
a0001c0001t0001g0139
a0001c0001t0005g0140
 2 HG02602.hp1
HG04184.hp1
HG02602.hp1
HG04184.hp1
 intron_variant MODIFIER c.-22+27073_-22+2707
others(8): Show 
c.-22+27073_-22+27076delCACA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77937887
chrX:77937889 A
A
 T
T
 11 a0001c0001t0001g0118
a0001c0001t0001g0160
a0001c0001t0008g0121
others(8): Show 
a0001c0001t0001g0118
a0001c0001t0001g0160
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 11 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(8): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02258.hp1
HG02451.hp1
HG02922.hp2
HG03195.hp2
HG04115.hp1
NA18969.hp1
NA19043.hp1
NA20129.hp2
 intron_variant MODIFIER c.-22+27054A>T
c.-22+27054A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77937889
chrX:77937927 A
A
 C
C
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-22+27092A>C
c.-22+27092A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77937927
chrX:77938187 G
G
 A
A
 1 a0002c0002t0002g0050
a0002c0002t0002g0050
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.-22+27352G>A
c.-22+27352G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77938187
chrX:77939099 C
C
 G
G
 1 a0002c0002t0002g0103
a0002c0002t0002g0103
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.-22+28264C>G
c.-22+28264C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77939099
chrX:77939161 G
G
 A
A
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.-22+28326G>A
c.-22+28326G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77939161
chrX:77939295 T
T
 TTC
TTC
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+28460_-22+2846
others(6): Show 
c.-22+28460_-22+28461insTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77939295
chrX:77939296 C
C
 CA
CA
 1 a0008c0009t0003g0078
a0008c0009t0003g0078
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.-22+28474dupA
c.-22+28474dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77939296
chrX:77939296 C
C
 T
T
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+28461C>T
c.-22+28461C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77939296
chrX:77939297 A
A
 C
C
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+28462A>C
c.-22+28462A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77939297
chrX:77939880 TG
TG
 T
T
 1 a0002c0002t0003g0031
a0002c0002t0003g0031
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.-22+29052delG
c.-22+29052delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77939880
chrX:77939945 CA
CA
 C
C
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+29112delA
c.-22+29112delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77939945
chrX:77939989 AT
AT
 A
A
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+29157delT
c.-22+29157delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77939989
chrX:77939994 A
A
 C
C
 2 a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0086
a0002c0002t0003g0087
 2 HG02970.hp2
HG03098.hp1
HG02970.hp2
HG03098.hp1
 intron_variant MODIFIER c.-22+29159A>C
c.-22+29159A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77939994
chrX:77940040 A
A
 G
G
 1 a0001c0001t0005g0217
a0001c0001t0005g0217
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-22+29205A>G
c.-22+29205A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77940040
chrX:77940119 CA
CA
 C
C
 1 a0002c0002t0002g0040
a0002c0002t0002g0040
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.-22+29291delA
c.-22+29291delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77940119
chrX:77940120 A
A
 C
C
 1 a0002c0002t0002g0067
a0002c0002t0002g0067
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.-22+29285A>C
c.-22+29285A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77940120
chrX:77940720 C
C
 CA
CA
 12 a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
others(9): Show 
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0013c0011t0007g0175
 12 HG02559.hp2
HG02572.hp1
HG02615.hp2
others(9): Show 
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
 intron_variant MODIFIER c.-22+29891dupA
c.-22+29891dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77940720
chrX:77941022 TA
TA
 T
T
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-22+30193delA
c.-22+30193delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77941022
chrX:77941075 TAC
TAC
 T
T
 1 a0001c0001t0005g0147
a0001c0001t0005g0147
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-22+30242_-22+3024
others(6): Show 
c.-22+30242_-22+30243delCA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77941075
chrX:77942322 A
A
 G
G
 1 a0001c0001t0010g0141
a0001c0001t0010g0141
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-29299A>G
c.-21-29299A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77942322
chrX:77942450 C
C
 CG
CG
 6 a0001c0001t0001g0026
a0001c0001t0001g0151
a0001c0001t0004g0200
others(3): Show 
a0001c0001t0001g0026
a0001c0001t0001g0151
a0001c0001t0004g0200
a0001c0001t0004g0230
a0001c0001t0005g0145
a0002c0002t0002g0051
 6 HG02145.hp1
HG02738.hp1
HG03831.hp1
others(3): Show 
HG02145.hp1
HG02738.hp1
HG03831.hp1
NA18947.hp2
NA18948.hp1
NA19000.hp1
 intron_variant MODIFIER c.-21-29163dupG
c.-21-29163dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77942450
chrX:77942451 G
G
 C
C
 2 a0001c0001t0005g0137
a0006c0007t0005g0138
a0001c0001t0005g0137
a0006c0007t0005g0138
 2 HG01109.hp1
HG02280.hp2
HG01109.hp1
HG02280.hp2
 intron_variant MODIFIER c.-21-29170G>C
c.-21-29170G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77942451
chrX:77942455 G
G
 T
T
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-21-29166G>T
c.-21-29166G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77942455
chrX:77942511 C
C
 T
T
 6 a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
others(3): Show 
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0010g0020
a0011c0015t0005g0127
 6 HG02615.hp1
HG02717.hp1
HG02809.hp2
others(3): Show 
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-29110C>T
c.-21-29110C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77942511
chrX:77942633 G
G
 A
A
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-21-28988G>A
c.-21-28988G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77942633
chrX:77942778 A
A
 G
G
 2 a0001c0001t0001g0168
a0001c0001t0001g0202
a0001c0001t0001g0168
a0001c0001t0001g0202
 2 NA18951.hp2
NA18995.hp1
NA18951.hp2
NA18995.hp1
 intron_variant MODIFIER c.-21-28843A>G
c.-21-28843A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77942778
chrX:77942877 C
C
 T
T
 1 a0001c0001t0004g0165
a0001c0001t0004g0165
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.-21-28744C>T
c.-21-28744C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77942877
chrX:77943714 C
C
 G
G
 9 a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
others(6): Show 
a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0006c0007t0005g0138
 9 HG01109.hp1
HG02280.hp2
HG02602.hp1
others(6): Show 
HG01109.hp1
HG02280.hp2
HG02602.hp1
HG02965.hp1
HG03239.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.-21-27907C>G
c.-21-27907C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77943714
chrX:77943787 G
G
 T
T
 1 a0002c0002t0003g0066
a0002c0002t0003g0066
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.-21-27834G>T
c.-21-27834G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77943787
chrX:77943792 A
A
 G
G
 1 a0002c0002t0015g0009
a0002c0002t0015g0009
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.-21-27829A>G
c.-21-27829A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77943792
chrX:77943815 AC
AC
 A
A
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-27804delC
c.-21-27804delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77943815
chrX:77944050 TA
TA
 T
T
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-27567delA
c.-21-27567delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944050
chrX:77944296 G
G
 GT
GT
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-27322dupT
c.-21-27322dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944296
chrX:77944480 A
A
 G
G
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.-21-27141A>G
c.-21-27141A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77944480
chrX:77944554 C
C
 CT
CT
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-27066dupT
c.-21-27066dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944554
chrX:77944598 A
A
 AT
AT
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-27015dupT
c.-21-27015dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944598
chrX:77944606 T
T
 A
A
 2 a0001c0001t0004g0165
a0001c0001t0004g0197
a0001c0001t0004g0165
a0001c0001t0004g0197
 2 NA18947.hp1
NA18977.hp1
NA18947.hp1
NA18977.hp1
 intron_variant MODIFIER c.-21-27015T>A
c.-21-27015T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77944606
chrX:77944646 AG
AG
 A
A
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-26973delG
c.-21-26973delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944646
chrX:77944834 G
G
 GTATT
GTATT
 17 a0001c0001t0001g0025
a0001c0001t0001g0172
a0001c0001t0001g0176
others(14): Show 
a0001c0001t0001g0025
a0001c0001t0001g0172
a0001c0001t0001g0176
a0001c0001t0001g0199
a0001c0001t0001g0205
a0001c0001t0004g0167
a0001c0001t0004g0174
a0001c0001t0005g0224
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0008g0121
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0008t0001g0177
a0008c0009t0003g0078
 17 HG00735.hp2
HG02559.hp2
HG02615.hp2
others(14): Show 
HG00735.hp2
HG02559.hp2
HG02615.hp2
HG02809.hp2
HG03017.hp1
HG03516.hp1
HG03688.hp1
HG03927.hp1
NA18965.hp1
NA19001.hp1
NA19001.hp2
NA19043.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19089.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-26757_-21-2675
others(8): Show 
c.-21-26757_-21-26754dupATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944834
chrX:77944834 G
G
 GTATTTAT
others(1): Show 
GTATTTATT
 3 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0042
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0042
 3 HG00609.hp1
HG03041.hp2
NA20129.hp1
HG00609.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.-21-26761_-21-2675
others(12): Show 
c.-21-26761_-21-26754dupATTTATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944834
chrX:77944834 GTATT
GTATT
 G
G
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.-21-26757_-21-2675
others(8): Show 
c.-21-26757_-21-26754delATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944834
chrX:77944972 TC
TC
 T
T
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-26646delC
c.-21-26646delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77944972
chrX:77944995 C
C
 T
T
 1 a0002c0002t0003g0117
a0002c0002t0003g0117
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.-21-26626C>T
c.-21-26626C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77944995
chrX:77945043 G
G
 GT
GT
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-26575dupT
c.-21-26575dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77945043
chrX:77945456 A
A
 T
T
 1 a0002c0002t0003g0065
a0002c0002t0003g0065
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.-21-26165A>T
c.-21-26165A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77945456
chrX:77945885 AT
AT
 A
A
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-25730delT
c.-21-25730delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77945885
chrX:77946057 TG
TG
 T
T
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-25561delG
c.-21-25561delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946057
chrX:77946299 C
C
 CA
CA
 7 a0001c0001t0001g0178
a0001c0001t0004g0197
a0001c0001t0005g0140
others(4): Show 
a0001c0001t0001g0178
a0001c0001t0004g0197
a0001c0001t0005g0140
a0001c0001t0011g0225
a0002c0002t0002g0023
a0002c0002t0003g0038
a0002c0002t0003g0087
 7 HG01081.hp1
HG01255.hp1
HG02970.hp2
others(4): Show 
HG01081.hp1
HG01255.hp1
HG02970.hp2
HG03927.hp2
HG04184.hp1
NA18965.hp1
NA18977.hp1
 intron_variant MODIFIER c.-21-25304dupA
c.-21-25304dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946299
chrX:77946299 CA
CA
 C
C
 4 a0001c0001t0001g0196
a0001c0001t0007g0021
a0001c0005t0001g0159
others(1): Show 
a0001c0001t0001g0196
a0001c0001t0007g0021
a0001c0005t0001g0159
a0002c0002t0003g0035
 4 HG01256.hp1
HG02486.hp1
NA18984.hp1
others(1): Show 
HG01256.hp1
HG02486.hp1
NA18984.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-25304delA
c.-21-25304delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946299
chrX:77946454 T
T
 C
C
 1 a0001c0001t0007g0017
a0001c0001t0007g0017
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.-21-25167T>C
c.-21-25167T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77946454
chrX:77946545 C
C
 G
G
 134 a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
others(131): Show 
a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0143
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 135 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(132): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-25076C>G
c.-21-25076C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77946545
chrX:77946595 AG
AG
 A
A
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.-21-25024delG
c.-21-25024delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946595
chrX:77946612 GA
GA
 G
G
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.-21-25006delA
c.-21-25006delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946612
chrX:77946729 T
T
 TA
TA
 22 a0001c0001t0001g0025
a0001c0001t0001g0118
a0001c0001t0001g0139
others(19): Show 
a0001c0001t0001g0025
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0155
a0001c0001t0001g0202
a0001c0001t0004g0165
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0224
a0001c0001t0010g0141
a0002c0002t0002g0103
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0222
a0002c0002t0018g0076
a0006c0007t0005g0138
 22 HG00544.hp2
HG01109.hp1
HG01255.hp1
others(19): Show 
HG00544.hp2
HG01109.hp1
HG01255.hp1
HG02027.hp1
HG02280.hp2
HG02602.hp1
HG02683.hp1
HG02965.hp1
HG03041.hp1
HG03130.hp1
HG03239.hp2
HG03453.hp2
HG03516.hp1
HG03579.hp1
HG03831.hp2
HG03927.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp1
NA18947.hp1
NA18995.hp1
NA19030.hp1
 intron_variant MODIFIER c.-21-24871dupA
c.-21-24871dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946729
chrX:77946729 T
T
 TAA
TAA
 3 a0002c0002t0003g0024
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0024
a0002c0002t0003g0086
a0002c0002t0003g0087
 3 HG00738.hp1
HG02970.hp2
HG03098.hp1
HG00738.hp1
HG02970.hp2
HG03098.hp1
 intron_variant MODIFIER c.-21-24872_-21-2487
others(6): Show 
c.-21-24872_-21-24871dupAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946729
chrX:77946729 TA
TA
 T
T
 8 a0001c0001t0005g0125
a0001c0001t0007g0004
a0001c0001t0007g0006
others(5): Show 
a0001c0001t0005g0125
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0005t0001g0159
a0002c0002t0002g0064
a0002c0002t0003g0063
a0013c0011t0007g0175
 8 HG01943.hp1
HG02559.hp2
HG02897.hp1
others(5): Show 
HG01943.hp1
HG02559.hp2
HG02897.hp1
HG03209.hp1
HG03471.hp1
NA18954.hp1
NA18984.hp1
NA19085.hp1
 intron_variant MODIFIER c.-21-24871delA
c.-21-24871delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946729
chrX:77946729 TAA
TAA
 T
T
 1 a0001c0001t0007g0008
a0001c0001t0007g0008
 1 HG02895.hp1
HG02895.hp1
 intron_variant MODIFIER c.-21-24872_-21-2487
others(6): Show 
c.-21-24872_-21-24871delAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946729
chrX:77946852 TA
TA
 T
T
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-24764delA
c.-21-24764delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77946852
chrX:77946988 A
A
 C
C
 2 a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0031
a0002c0002t0003g0032
 2 HG01515.hp1
HG01517.hp2
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.-21-24633A>C
c.-21-24633A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77946988
chrX:77947081 TA
TA
 T
T
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.-21-24535delA
c.-21-24535delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77947081
chrX:77947240 G
G
 A
A
 1 a0001c0001t0004g0200
a0001c0001t0004g0200
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.-21-24381G>A
c.-21-24381G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77947240
chrX:77947290 AG
AG
 A
A
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-21-24329delG
c.-21-24329delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77947290
chrX:77947442 A
A
 AT
AT
 131 a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0003
others(128): Show 
a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 132 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(129): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-24166dupT
c.-21-24166dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77947442
chrX:77947442 A
A
 ATT
ATT
 4 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0042
others(1): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0042
a0002c0002t0002g0069
 4 HG00609.hp1
HG02056.hp1
HG03041.hp2
others(1): Show 
HG00609.hp1
HG02056.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.-21-24167_-21-2416
others(6): Show 
c.-21-24167_-21-24166dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77947442
chrX:77947510 C
C
 G
G
 1 a0002c0002t0003g0087
a0002c0002t0003g0087
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.-21-24111C>G
c.-21-24111C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77947510
chrX:77947737 A
A
 AT
AT
 83 a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0101
others(80): Show 
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0101
a0001c0001t0001g0155
a0001c0001t0001g0194
a0001c0001t0004g0169
a0001c0001t0004g0193
a0001c0001t0004g0206
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0229
a0001c0001t0005g0003
a0001c0001t0005g0140
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0029g0019
a0001c0008t0001g0177
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0070
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0007c0016t0007g0231
a0008c0009t0003g0078
 84 HG00438.hp1
HG00438.hp2
HG00544.hp1
others(81): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01081.hp2
HG01169.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02027.hp1
HG02040.hp1
HG02074.hp1
HG02080.hp1
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02258.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02572.hp1
HG02698.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18975.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-23865dupT
c.-21-23865dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77947737
chrX:77947737 A
A
 ATT
ATT
 15 a0002c0002t0002g0023
a0002c0002t0002g0045
a0002c0002t0002g0062
others(12): Show 
a0002c0002t0002g0023
a0002c0002t0002g0045
a0002c0002t0002g0062
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0036
a0002c0002t0003g0117
a0002c0002t0006g0105
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0003c0003t0002g0061
a0009c0010t0026g0104
 15 HG00597.hp1
HG01074.hp1
HG02056.hp1
others(12): Show 
HG00597.hp1
HG01074.hp1
HG02056.hp1
HG02559.hp1
HG03927.hp2
HG04184.hp2
NA18940.hp1
NA18944.hp1
NA18952.hp1
NA18974.hp1
NA18994.hp1
NA19011.hp2
NA19030.hp1
NA19064.hp2
NA19076.hp1
 intron_variant MODIFIER c.-21-23866_-21-2386
others(6): Show 
c.-21-23866_-21-23865dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77947737
chrX:77947737 A
A
 ATTT
ATTT
 3 a0002c0002t0002g0103
a0005c0006t0008g0119
a0005c0006t0008g0120
a0002c0002t0002g0103
a0005c0006t0008g0119
a0005c0006t0008g0120
 3 HG02280.hp1
HG02683.hp1
HG02886.hp1
HG02280.hp1
HG02683.hp1
HG02886.hp1
 intron_variant MODIFIER c.-21-23867_-21-2386
others(7): Show 
c.-21-23867_-21-23865dupTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77947737
chrX:77948058 AATATT
AATATT
 A
A
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.-21-23562_-21-2355
others(9): Show 
c.-21-23562_-21-23558delATATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948058
chrX:77948059 A
A
 ATATT
ATATT
 23 a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0088
others(20): Show 
a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0088
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0118
a0001c0001t0001g0168
a0001c0001t0001g0190
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0004g0192
a0001c0001t0004g0214
a0001c0001t0005g0149
a0001c0001t0021g0163
a0001c0001t0022g0191
a0002c0002t0003g0029
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0010c0012t0001g0089
 23 HG00558.hp1
HG00597.hp2
HG01074.hp1
others(20): Show 
HG00558.hp1
HG00597.hp2
HG01074.hp1
HG01167.hp1
HG01169.hp2
HG02451.hp1
HG02735.hp1
HG03195.hp1
HG03239.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp1
NA18942.hp2
NA18951.hp2
NA18971.hp1
NA18982.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19055.hp1
NA20129.hp2
 intron_variant MODIFIER c.-21-23521_-21-2351
others(8): Show 
c.-21-23521_-21-23518dupTATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948059
chrX:77948059 A
A
 ATATTTAT
others(1): Show 
ATATTTATT
 3 a0001c0001t0001g0156
a0001c0001t0001g0202
a0001c0001t0001g0212
a0001c0001t0001g0156
a0001c0001t0001g0202
a0001c0001t0001g0212
 3 HG00280.hp1
NA18961.hp1
NA18995.hp1
HG00280.hp1
NA18961.hp1
NA18995.hp1
 intron_variant MODIFIER c.-21-23525_-21-2351
others(12): Show 
c.-21-23525_-21-23518dupTATTTATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948059
chrX:77948059 ATATT
ATATT
 A
A
 29 a0001c0001t0001g0005
a0001c0001t0001g0170
a0001c0001t0001g0172
others(26): Show 
a0001c0001t0001g0005
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0179
a0001c0001t0003g0016
a0001c0001t0004g0153
a0001c0001t0004g0161
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0230
a0001c0001t0005g0013
a0001c0001t0005g0147
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0028g0011
a0002c0002t0003g0083
a0006c0007t0005g0138
a0013c0011t0007g0175
 29 HG01169.hp1
HG01243.hp1
HG01261.hp1
others(26): Show 
HG01169.hp1
HG01243.hp1
HG01261.hp1
HG01358.hp1
HG01952.hp1
HG02273.hp1
HG02280.hp2
HG02615.hp2
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp2
HG03225.hp1
HG03453.hp1
HG03516.hp1
HG03831.hp1
NA18955.hp1
NA18975.hp1
NA18990.hp1
NA19000.hp1
NA19058.hp1
NA19060.hp1
NA19089.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-21-23521_-21-2351
others(8): Show 
c.-21-23521_-21-23518delTATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948059
chrX:77948059 ATATTTAT
others(1): Show 
ATATTTATT
 A
A
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-21-23525_-21-2351
others(12): Show 
c.-21-23525_-21-23518delTATTTATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948059
chrX:77948059 ATATTTAT
others(5): Show 
ATATTTATTTATT
 A
A
 1 a0001c0001t0027g0198
a0001c0001t0027g0198
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.-21-23529_-21-2351
others(16): Show 
c.-21-23529_-21-23518delTATTTATTTATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948059
chrX:77948080 TATTTATT
others(17): Show 
TATTTATTTATTTATTTATTTATTC
 T
T
 3 a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 3 NA18965.hp1
NA19001.hp2
NA19074.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.-21-23537_-21-2351
others(28): Show 
c.-21-23537_-21-23514delTATTTATTTATTTATTTATTCATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948080
chrX:77948092 TATTTATT
others(5): Show 
TATTTATTTATTC
 T
T
 1 a0002c0002t0003g0082
a0002c0002t0003g0082
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.-21-23525_-21-2351
others(16): Show 
c.-21-23525_-21-23514delTATTTATTCATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948092
chrX:77948100 T
T
 C
C
 3 a0001c0001t0005g0003
a0001c0001t0005g0126
a0001c0001t0005g0137
a0001c0001t0005g0003
a0001c0001t0005g0126
a0001c0001t0005g0137
 3 HG01109.hp1
HG02572.hp1
HG02717.hp1
HG01109.hp1
HG02572.hp1
HG02717.hp1
 intron_variant MODIFIER c.-21-23521T>C
c.-21-23521T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948100
chrX:77948100 T
T
 TATTC
TATTC
 7 a0001c0001t0001g0199
a0001c0001t0008g0122
a0001c0001t0008g0124
others(4): Show 
a0001c0001t0001g0199
a0001c0001t0008g0122
a0001c0001t0008g0124
a0001c0001t0010g0141
a0005c0006t0008g0119
a0005c0006t0008g0120
a0011c0015t0005g0127
 7 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(4): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG03041.hp1
HG03195.hp2
HG03540.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-23500_-21-2349
others(8): Show 
c.-21-23500_-21-23497dupATTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948100
chrX:77948100 T
T
 TATTTATT
others(1): Show 
TATTTATTC
 2 a0001c0001t0008g0121
a0001c0001t0008g0123
a0001c0001t0008g0121
a0001c0001t0008g0123
 2 HG02922.hp2
NA19043.hp1
HG02922.hp2
NA19043.hp1
 intron_variant MODIFIER c.-21-23518_-21-2351
others(12): Show 
c.-21-23518_-21-23517insTATTCATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948100
chrX:77948100 TATTC
TATTC
 T
T
 73 a0001c0001t0001g0096
a0001c0001t0001g0151
a0001c0001t0001g0194
others(70): Show 
a0001c0001t0001g0096
a0001c0001t0001g0151
a0001c0001t0001g0194
a0001c0001t0004g0143
a0001c0001t0005g0142
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0014t0005g0146
a0002c0002t0002g0037
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0003g0024
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0063
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 74 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(71): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02129.hp1
HG02165.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02738.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03453.hp2
HG03516.hp2
HG03710.hp1
HG03831.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-23500_-21-2349
others(8): Show 
c.-21-23500_-21-23497delATTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948100
chrX:77948100 TATTCATT
others(1): Show 
TATTCATTC
 T
T
 1 a0002c0002t0003g0058
a0002c0002t0003g0058
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.-21-23504_-21-2349
others(12): Show 
c.-21-23504_-21-23497delATTCATTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948100
chrX:77948104 C
C
 T
T
 17 a0001c0001t0001g0101
a0001c0001t0005g0144
a0002c0002t0002g0023
others(14): Show 
a0001c0001t0001g0101
a0001c0001t0005g0144
a0002c0002t0002g0023
a0002c0002t0002g0040
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0065
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 17 HG00544.hp1
HG01074.hp1
HG01167.hp1
others(14): Show 
HG00544.hp1
HG01074.hp1
HG01167.hp1
HG01169.hp2
HG01433.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp2
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG03239.hp1
HG03654.hp1
HG03927.hp2
HG04184.hp2
HG04204.hp1
NA20129.hp2
 intron_variant MODIFIER c.-21-23517C>T
c.-21-23517C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948104
chrX:77948290 G
G
 A
A
 1 a0001c0001t0005g0142
a0001c0001t0005g0142
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.-21-23331G>A
c.-21-23331G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948290
chrX:77948309 T
T
 C
C
 1 a0002c0002t0003g0058
a0002c0002t0003g0058
 1 HG01069.hp1
HG01069.hp1
 intron_variant MODIFIER c.-21-23312T>C
c.-21-23312T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948309
chrX:77948437 TA
TA
 T
T
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.-21-23178delA
c.-21-23178delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948437
chrX:77948492 T
T
 C
C
 1 a0002c0002t0002g0116
a0002c0002t0002g0116
 1 NA19079.hp1
NA19079.hp1
 intron_variant MODIFIER c.-21-23129T>C
c.-21-23129T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948492
chrX:77948500 GA
GA
 G
G
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.-21-23117delA
c.-21-23117delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948500
chrX:77948611 T
T
 A
A
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-23010T>A
c.-21-23010T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948611
chrX:77948834 AT
AT
 A
A
 5 a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
others(2): Show 
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0013c0011t0007g0175
 5 HG02559.hp2
HG02895.hp1
HG02897.hp1
others(2): Show 
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.-21-22780delT
c.-21-22780delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77948834
chrX:77948952 T
T
 C
C
 136 a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
others(133): Show 
a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0143
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 137 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(134): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-22669T>C
c.-21-22669T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77948952
chrX:77949081 A
A
 G
G
 6 a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
others(3): Show 
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0010g0020
a0011c0015t0005g0127
 6 HG02615.hp1
HG02717.hp1
HG02809.hp2
others(3): Show 
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-22540A>G
c.-21-22540A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77949081
chrX:77950414 A
A
 G
G
 24 a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
others(21): Show 
a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0011c0015t0005g0127
 24 HG00558.hp2
HG01167.hp1
HG01169.hp2
others(21): Show 
HG00558.hp2
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02451.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03041.hp1
HG03540.hp2
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.-21-21207A>G
c.-21-21207A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77950414
chrX:77950477 G
G
 A
A
 3 a0001c0001t0001g0150
a0001c0001t0001g0180
a0001c0001t0001g0201
a0001c0001t0001g0150
a0001c0001t0001g0180
a0001c0001t0001g0201
 3 HG02083.hp1
NA19056.hp1
NA19088.hp1
HG02083.hp1
NA19056.hp1
NA19088.hp1
 intron_variant MODIFIER c.-21-21144G>A
c.-21-21144G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77950477
chrX:77950519 CAT
CAT
 C
C
 4 a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
others(1): Show 
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
 4 HG01074.hp1
HG01433.hp1
HG01515.hp1
others(1): Show 
HG01074.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.-21-21101_-21-2110
others(6): Show 
c.-21-21101_-21-21100delAT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77950519
chrX:77950604 G
G
 C
C
 1 a0001c0001t0005g0129
a0001c0001t0005g0129
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-21017G>C
c.-21-21017G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77950604
chrX:77950690 AT
AT
 A
A
 2 a0001c0001t0004g0165
a0001c0001t0004g0197
a0001c0001t0004g0165
a0001c0001t0004g0197
 2 NA18947.hp1
NA18977.hp1
NA18947.hp1
NA18977.hp1
 intron_variant MODIFIER c.-21-20925delT
c.-21-20925delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77950690
chrX:77950895 A
A
 G
G
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-20726A>G
c.-21-20726A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77950895
chrX:77951083 C
C
 T
T
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.-21-20538C>T
c.-21-20538C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77951083
chrX:77951298 T
T
 G
G
 1 a0001c0001t0001g0025
a0001c0001t0001g0025
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.-21-20323T>G
c.-21-20323T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77951298
chrX:77951582 CT
CT
 C
C
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.-21-20024delT
c.-21-20024delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77951582
chrX:77951611 G
G
 A
A
 1 a0001c0001t0027g0198
a0001c0001t0027g0198
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.-21-20010G>A
c.-21-20010G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77951611
chrX:77951730 C
C
 T
T
 6 a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
others(3): Show 
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0010g0020
a0011c0015t0005g0127
 6 HG02615.hp1
HG02717.hp1
HG02809.hp2
others(3): Show 
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-19891C>T
c.-21-19891C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77951730
chrX:77952030 A
A
 G
G
 3 a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
 3 HG02258.hp1
HG02922.hp2
HG03195.hp2
HG02258.hp1
HG02922.hp2
HG03195.hp2
 intron_variant MODIFIER c.-21-19591A>G
c.-21-19591A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77952030
chrX:77952789 C
C
 CT
CT
 21 a0001c0001t0001g0170
a0001c0001t0001g0179
a0001c0001t0003g0015
others(18): Show 
a0001c0001t0001g0170
a0001c0001t0001g0179
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0002c0002t0002g0062
a0007c0016t0007g0231
a0013c0011t0007g0175
 21 HG00597.hp1
HG01243.hp1
HG02559.hp2
others(18): Show 
HG00597.hp1
HG01243.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp1
NA19030.hp2
NA19058.hp1
NA19060.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-18818dupT
c.-21-18818dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77952789
chrX:77952789 CT
CT
 C
C
 1 a0001c0001t0001g0091
a0001c0001t0001g0091
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.-21-18818delT
c.-21-18818delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77952789
chrX:77954201 G
G
 A
A
 1 a0001c0001t0010g0141
a0001c0001t0010g0141
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-17420G>A
c.-21-17420G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77954201
chrX:77954804 C
C
 G
G
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-21-16817C>G
c.-21-16817C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77954804
chrX:77954852 A
A
 G
G
 1 a0002c0002t0002g0067
a0002c0002t0002g0067
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.-21-16769A>G
c.-21-16769A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77954852
chrX:77954879 C
C
 T
T
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-21-16742C>T
c.-21-16742C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77954879
chrX:77954891 T
T
 C
C
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.-21-16730T>C
c.-21-16730T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77954891
chrX:77954902 G
G
 A
A
 2 a0002c0002t0003g0063
a0002c0002t0003g0066
a0002c0002t0003g0063
a0002c0002t0003g0066
 2 HG01496.hp2
HG01943.hp1
HG01496.hp2
HG01943.hp1
 intron_variant MODIFIER c.-21-16719G>A
c.-21-16719G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77954902
chrX:77955461 C
C
 T
T
 1 a0008c0009t0003g0078
a0008c0009t0003g0078
 1 HG00735.hp2
HG00735.hp2
 intron_variant MODIFIER c.-21-16160C>T
c.-21-16160C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77955461
chrX:77955805 C
C
 G
G
 5 a0001c0001t0001g0150
a0001c0001t0001g0180
a0001c0001t0001g0201
others(2): Show 
a0001c0001t0001g0150
a0001c0001t0001g0180
a0001c0001t0001g0201
a0001c0001t0005g0010
a0001c0001t0005g0125
 5 HG02083.hp1
NA18954.hp1
NA18962.hp1
others(2): Show 
HG02083.hp1
NA18954.hp1
NA18962.hp1
NA19056.hp1
NA19088.hp1
 intron_variant MODIFIER c.-21-15816C>G
c.-21-15816C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77955805
chrX:77955847 AT
AT
 A
A
 2 a0001c0001t0005g0142
a0002c0002t0006g0110
a0001c0001t0005g0142
a0002c0002t0006g0110
 2 HG00558.hp2
NA19011.hp2
HG00558.hp2
NA19011.hp2
 intron_variant MODIFIER c.-21-15758delT
c.-21-15758delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77955847
chrX:77955967 A
A
 T
T
 1 a0001c0001t0010g0141
a0001c0001t0010g0141
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-15654A>T
c.-21-15654A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77955967
chrX:77956290 T
T
 C
C
 31 a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0126
others(28): Show 
a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0006c0007t0005g0138
a0011c0015t0005g0127
 31 HG00558.hp2
HG01109.hp1
HG01167.hp1
others(28): Show 
HG00558.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp1
HG02602.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG04184.hp1
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.-21-15331T>C
c.-21-15331T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956290
chrX:77956724 C
C
 CTCCT
CTCCT
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.-21-14895_-21-1489
others(8): Show 
c.-21-14895_-21-14892dupCCTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956724
chrX:77956726 C
C
 CCCTTT
CCCTTT
 1 a0005c0006t0008g0119
a0005c0006t0008g0119
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.-21-14894_-21-1489
others(9): Show 
c.-21-14894_-21-14893insCTTTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 C
C
 CCTTCTTT
others(4): Show 
CCTTCTTTCTTT
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.-21-14892_-21-1489
others(15): Show 
c.-21-14892_-21-14891insCTTTCTTTCTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 C
C
 CCTTT
CCTTT
 62 a0001c0001t0001g0022
a0001c0001t0001g0034
a0001c0001t0001g0099
others(59): Show 
a0001c0001t0001g0022
a0001c0001t0001g0034
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0176
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0171
a0001c0001t0004g0192
a0001c0001t0004g0207
a0001c0001t0004g0230
a0001c0001t0005g0013
a0001c0001t0005g0136
a0001c0001t0007g0004
a0001c0001t0007g0007
a0001c0001t0007g0018
a0001c0001t0008g0124
a0001c0001t0020g0014
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0029g0019
a0001c0005t0001g0158
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0048
a0002c0002t0002g0051
a0002c0002t0002g0055
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0070
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0111
a0002c0002t0006g0113
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0003c0003t0002g0047
a0003c0003t0002g0056
a0005c0006t0008g0120
a0008c0009t0003g0078
 62 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(59): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp1
HG00733.hp2
HG00735.hp2
HG01069.hp1
HG01884.hp1
HG01928.hp1
HG01934.hp1
HG02027.hp1
HG02132.hp1
HG02273.hp1
HG02280.hp1
HG02486.hp1
HG02559.hp2
HG02602.hp1
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02809.hp1
HG02970.hp2
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03831.hp1
HG04228.hp1
NA18942.hp1
NA18947.hp2
NA18954.hp2
NA18961.hp1
NA18969.hp2
NA18975.hp1
NA18975.hp2
NA18982.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19003.hp1
NA19003.hp2
NA19009.hp1
NA19030.hp1
NA19056.hp1
NA19065.hp1
NA19067.hp1
NA19070.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-21-14836_-21-1483
others(8): Show 
c.-21-14836_-21-14833dupTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 C
C
 CCTTTCTT
others(1): Show 
CCTTTCTTT
 43 a0001c0001t0001g0005
a0001c0001t0001g0091
a0001c0001t0001g0151
others(40): Show 
a0001c0001t0001g0005
a0001c0001t0001g0091
a0001c0001t0001g0151
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0172
a0001c0001t0001g0194
a0001c0001t0001g0201
a0001c0001t0001g0216
a0001c0001t0004g0152
a0001c0001t0004g0165
a0001c0001t0004g0210
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0005g0003
a0001c0001t0005g0140
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0024g0213
a0001c0001t0028g0011
a0002c0002t0002g0023
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0028
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0006g0001
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0112
a0002c0002t0012g0114
a0003c0003t0002g0061
a0006c0007t0005g0138
 44 HG00642.hp1
HG01515.hp1
HG01517.hp1
others(41): Show 
HG00642.hp1
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG02071.hp1
HG02080.hp1
HG02135.hp1
HG02280.hp2
HG02451.hp2
HG02572.hp1
HG02738.hp1
HG02897.hp2
HG02970.hp1
HG03098.hp1
HG03139.hp1
HG03195.hp1
HG03453.hp2
HG03516.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
NA18522.hp1
NA18940.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18953.hp1
NA18955.hp1
NA18966.hp1
NA18969.hp1
NA18987.hp1
NA18987.hp2
NA19004.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19083.hp1
NA19088.hp1
NA19089.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-21-14840_-21-1483
others(12): Show 
c.-21-14840_-21-14833dupTTCTTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 C
C
 CCTTTCTT
others(5): Show 
CCTTTCTTTCTTT
 20 a0001c0001t0001g0101
a0001c0001t0001g0179
a0001c0001t0004g0027
others(17): Show 
a0001c0001t0001g0101
a0001c0001t0001g0179
a0001c0001t0004g0027
a0001c0001t0004g0166
a0001c0001t0004g0211
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0149
a0001c0001t0010g0012
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0003g0024
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0038
a0003c0003t0002g0057
a0009c0010t0026g0104
a0014c0017t0004g0189
 20 HG00544.hp1
HG00738.hp1
HG01074.hp1
others(17): Show 
HG00544.hp1
HG00738.hp1
HG01074.hp1
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG02056.hp1
HG02615.hp2
HG03239.hp2
NA18949.hp1
NA18954.hp1
NA18959.hp1
NA18960.hp1
NA18962.hp1
NA18974.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19091.hp1
NA20905.hp1
 intron_variant MODIFIER c.-21-14844_-21-1483
others(16): Show 
c.-21-14844_-21-14833dupTTCTTTCTTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 C
C
 CCTTTCTT
others(9): Show 
CCTTTCTTTCTTTCTTT
 3 a0001c0001t0001g0168
a0001c0001t0001g0170
a0002c0002t0003g0222
a0001c0001t0001g0168
a0001c0001t0001g0170
a0002c0002t0003g0222
 3 HG03831.hp2
NA18951.hp2
NA19058.hp1
HG03831.hp2
NA18951.hp2
NA19058.hp1
 intron_variant MODIFIER c.-21-14848_-21-1483
others(20): Show 
c.-21-14848_-21-14833dupTTCTTTCTTTCTTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 C
C
 CCTTTCTT
others(13): Show 
CCTTTCTTTCTTTCTTTCTTT
 1 a0001c0001t0001g0173
a0001c0001t0001g0173
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.-21-14852_-21-1483
others(24): Show 
c.-21-14852_-21-14833dupTTCTTTCTTTCTTTCTTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 C
C
 CT
CT
 1 a0001c0001t0005g0129
a0001c0001t0005g0129
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.-21-14895_-21-1489
others(5): Show 
c.-21-14895_-21-14894insT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 C
C
 CTCTTT
CTCTTT
 7 a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0130
others(4): Show 
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0130
a0001c0001t0005g0142
a0001c0001t0005g0228
a0001c0001t0010g0141
a0001c0014t0005g0146
 7 HG00558.hp2
HG02015.hp1
HG02615.hp1
others(4): Show 
HG00558.hp2
HG02015.hp1
HG02615.hp1
HG02717.hp1
HG02886.hp2
HG03041.hp1
NA19001.hp2
 intron_variant MODIFIER c.-21-14895_-21-1489
others(9): Show 
c.-21-14895_-21-14894insTCTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 C
C
 CTCTTTCT
others(2): Show 
CTCTTTCTTT
 5 a0001c0001t0004g0143
a0001c0001t0005g0145
a0001c0001t0005g0148
others(2): Show 
a0001c0001t0004g0143
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0011g0226
a0004c0004t0009g0131
 5 HG01884.hp2
NA18948.hp1
NA18949.hp2
others(2): Show 
HG01884.hp2
NA18948.hp1
NA18949.hp2
NA18970.hp1
NA19074.hp2
 intron_variant MODIFIER c.-21-14895_-21-1489
others(13): Show 
c.-21-14895_-21-14894insTCTTTCTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 C
C
 CTCTTTCT
others(6): Show 
CTCTTTCTTTCTTT
 2 a0001c0001t0011g0225
a0004c0004t0009g0132
a0001c0001t0011g0225
a0004c0004t0009g0132
 2 HG02451.hp1
NA18965.hp1
HG02451.hp1
NA18965.hp1
 intron_variant MODIFIER c.-21-14895_-21-1489
others(17): Show 
c.-21-14895_-21-14894insTCTTTCTTTCTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 C
C
 CTCTTTCT
others(10): Show 
CTCTTTCTTTCTTTCTTT
 1 a0004c0004t0009g0135
a0004c0004t0009g0135
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.-21-14895_-21-1489
others(21): Show 
c.-21-14895_-21-14894insTCTTTCTTTCTTTCTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 C
C
 CTCTTTCT
others(14): Show 
CTCTTTCTTTCTTTCTTTCTTT
 2 a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0133
a0004c0004t0009g0134
 2 HG01167.hp1
HG01169.hp2
HG01167.hp1
HG01169.hp2
 intron_variant MODIFIER c.-21-14895_-21-1489
others(25): Show 
c.-21-14895_-21-14894insTCTTTCTTTCTTTCTTTCTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 CCTT
CCTT
 C
C
 2 a0001c0001t0005g0144
a0001c0001t0005g0227
a0001c0001t0005g0144
a0001c0001t0005g0227
 2 HG02165.hp2
HG04204.hp1
HG02165.hp2
HG04204.hp1
 intron_variant MODIFIER c.-21-14894_-21-1489
others(7): Show 
c.-21-14894_-21-14892delCTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 CCTTT
CCTTT
 C
C
 19 a0001c0001t0001g0033
a0001c0001t0001g0041
a0001c0001t0001g0090
others(16): Show 
a0001c0001t0001g0033
a0001c0001t0001g0041
a0001c0001t0001g0090
a0001c0001t0001g0098
a0001c0001t0001g0118
a0001c0001t0004g0169
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0007g0006
a0001c0001t0007g0008
a0001c0001t0007g0017
a0002c0002t0002g0049
a0002c0002t0002g0053
a0002c0002t0003g0065
a0002c0002t0003g0079
a0002c0002t0013g0075
a0013c0011t0007g0175
 19 HG01081.hp2
HG01169.hp1
HG01243.hp1
others(16): Show 
HG01081.hp2
HG01169.hp1
HG01243.hp1
HG02040.hp1
HG02074.hp1
HG02273.hp2
HG02895.hp1
HG02897.hp1
HG03130.hp1
HG03209.hp1
HG03492.hp1
HG04115.hp1
NA18612.hp1
NA18951.hp1
NA18977.hp1
NA18988.hp1
NA19000.hp1
NA19005.hp1
NA19055.hp1
 intron_variant MODIFIER c.-21-14836_-21-1483
others(8): Show 
c.-21-14836_-21-14833delTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 CCTTTCTT
CCTTTCTT
 C
C
 1 a0011c0015t0005g0127
a0011c0015t0005g0127
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.-21-14894_-21-1488
others(11): Show 
c.-21-14894_-21-14888delCTTTCTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956726 CCTTTCTT
others(1): Show 
CCTTTCTTT
 C
C
 11 a0001c0001t0001g0025
a0001c0001t0001g0088
a0001c0001t0001g0092
others(8): Show 
a0001c0001t0001g0025
a0001c0001t0001g0088
a0001c0001t0001g0092
a0001c0001t0001g0097
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0212
a0002c0002t0002g0044
a0002c0002t0002g0050
a0002c0002t0002g0077
a0007c0016t0007g0231
 11 HG00140.hp1
HG00280.hp1
HG00735.hp1
others(8): Show 
HG00140.hp1
HG00280.hp1
HG00735.hp1
HG01106.hp1
HG01258.hp1
HG03927.hp1
NA18942.hp2
NA18971.hp1
NA19030.hp2
NA19066.hp1
NA19075.hp1
 intron_variant MODIFIER c.-21-14840_-21-1483
others(12): Show 
c.-21-14840_-21-14833delTTCTTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 CCTTTCTT
others(5): Show 
CCTTTCTTTCTTT
 C
C
 4 a0001c0001t0008g0121
a0002c0002t0002g0045
a0002c0002t0003g0063
others(1): Show 
a0001c0001t0008g0121
a0002c0002t0002g0045
a0002c0002t0003g0063
a0002c0002t0003g0066
 4 HG01496.hp2
HG01943.hp1
NA18952.hp1
others(1): Show 
HG01496.hp2
HG01943.hp1
NA18952.hp1
NA19043.hp1
 intron_variant MODIFIER c.-21-14844_-21-1483
others(16): Show 
c.-21-14844_-21-14833delTTCTTTCTTTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956726
chrX:77956726 CCTTTCTT
others(8): Show 
CCTTTCTTTCTTTCTT
 C
C
 1 a0001c0001t0010g0020
a0001c0001t0010g0020
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.-21-14894_-21-1488
others(19): Show 
c.-21-14894_-21-14880delCTTTCTTTCTTTCTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956726
chrX:77956785 T
T
 TTCTTTCT
others(3): Show 
TTCTTTCTTTC
 1 a0001c0001t0004g0209
a0001c0001t0004g0209
 1 HG01261.hp1
HG01261.hp1
 intron_variant MODIFIER c.-21-14833_-21-1483
others(14): Show 
c.-21-14833_-21-14832insTTCTTTCTCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956785
chrX:77956787 C
C
 CTT
CTT
 1 a0001c0005t0001g0159
a0001c0005t0001g0159
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.-21-14833_-21-1483
others(6): Show 
c.-21-14833_-21-14832insTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956787
chrX:77956787 C
C
 CTTTCTTT
others(2): Show 
CTTTCTTTCT
 1 a0001c0001t0027g0198
a0001c0001t0027g0198
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.-21-14833_-21-1483
others(13): Show 
c.-21-14833_-21-14832insTTCTTTCTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956787
chrX:77956787 CT
CT
 C
C
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.-21-14833delT
c.-21-14833delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956787
chrX:77956789 C
C
 T
T
 1 a0003c0003t0002g0043
a0003c0003t0002g0043
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.-21-14832C>T
c.-21-14832C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956789
chrX:77956790 T
T
 TCTTTCTT
others(7): Show 
TCTTTCTTTCTTCTC
 1 a0003c0003t0002g0043
a0003c0003t0002g0043
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.-21-14831_-21-1483
others(18): Show 
c.-21-14831_-21-14830insCTTTCTTTCTTCTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956790
chrX:77956797 C
C
 CT
CT
 9 a0001c0001t0001g0156
a0001c0001t0001g0170
a0001c0001t0001g0179
others(6): Show 
a0001c0001t0001g0156
a0001c0001t0001g0170
a0001c0001t0001g0179
a0001c0001t0001g0202
a0001c0001t0004g0027
a0001c0001t0004g0174
a0001c0001t0004g0229
a0001c0001t0028g0011
a0002c0002t0002g0071
 9 HG02970.hp1
NA18961.hp1
NA18995.hp1
others(6): Show 
HG02970.hp1
NA18961.hp1
NA18995.hp1
NA19001.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19064.hp2
NA19091.hp1
 intron_variant MODIFIER c.-21-14810dupT
c.-21-14810dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956797
chrX:77956797 CT
CT
 C
C
 2 a0001c0001t0001g0172
a0001c0001t0004g0215
a0001c0001t0001g0172
a0001c0001t0004g0215
 2 NA18987.hp2
NA19089.hp1
NA18987.hp2
NA19089.hp1
 intron_variant MODIFIER c.-21-14810delT
c.-21-14810delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77956797
chrX:77956798 T
T
 TCTTTCTT
others(2): Show 
TCTTTCTTTC
 1 a0001c0005t0001g0159
a0001c0005t0001g0159
 1 NA18984.hp1
NA18984.hp1
 intron_variant MODIFIER c.-21-14823_-21-1482
others(13): Show 
c.-21-14823_-21-14822insCTTTCTTTC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77956798
chrX:77957072 C
C
 T
T
 21 a0001c0001t0004g0143
a0001c0001t0005g0126
a0001c0001t0005g0128
others(18): Show 
a0001c0001t0004g0143
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0011c0015t0005g0127
 21 HG00558.hp2
HG01167.hp1
HG01169.hp2
others(18): Show 
HG00558.hp2
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02451.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03540.hp2
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.-21-14549C>T
c.-21-14549C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77957072
chrX:77957100 T
T
 C
C
 1 a0001c0001t0027g0198
a0001c0001t0027g0198
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.-21-14521T>C
c.-21-14521T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77957100
chrX:77957226 T
T
 A
A
 5 a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
others(2): Show 
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0013c0011t0007g0175
 5 HG02559.hp2
HG02895.hp1
HG02897.hp1
others(2): Show 
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.-21-14395T>A
c.-21-14395T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77957226
chrX:77957270 T
T
 C
C
 1 a0003c0003t0002g0043
a0003c0003t0002g0043
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.-21-14351T>C
c.-21-14351T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77957270
chrX:77957789 C
C
 A
A
 1 a0001c0001t0005g0148
a0001c0001t0005g0148
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.-21-13832C>A
c.-21-13832C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77957789
chrX:77957846 G
G
 A
A
 1 a0001c0001t0004g0165
a0001c0001t0004g0165
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.-21-13775G>A
c.-21-13775G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77957846
chrX:77958059 G
G
 GT
GT
 2 a0001c0001t0001g0151
a0007c0016t0007g0231
a0001c0001t0001g0151
a0007c0016t0007g0231
 2 HG02738.hp1
NA19030.hp2
HG02738.hp1
NA19030.hp2
 intron_variant MODIFIER c.-21-13554dupT
c.-21-13554dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77958059
chrX:77958335 G
G
 A
A
 1 a0002c0002t0002g0054
a0002c0002t0002g0054
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.-21-13286G>A
c.-21-13286G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77958335
chrX:77958447 T
T
 G
G
 1 a0001c0001t0004g0171
a0001c0001t0004g0171
 1 HG02132.hp1
HG02132.hp1
 intron_variant MODIFIER c.-21-13174T>G
c.-21-13174T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77958447
chrX:77958785 G
G
 GT
GT
 28 a0001c0001t0001g0118
a0001c0001t0001g0151
a0001c0001t0001g0155
others(25): Show 
a0001c0001t0001g0118
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0203
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0169
a0001c0001t0004g0214
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0130
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0027g0198
a0002c0002t0002g0054
a0002c0002t0002g0062
a0002c0002t0002g0195
a0002c0002t0003g0028
a0002c0002t0003g0036
a0002c0002t0003g0117
a0003c0003t0002g0061
a0006c0007t0005g0138
a0007c0016t0007g0231
a0013c0011t0007g0175
 28 HG00558.hp2
HG00597.hp1
HG00597.hp2
others(25): Show 
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG01934.hp1
HG02027.hp1
HG02080.hp1
HG02280.hp2
HG02559.hp1
HG02572.hp1
HG02615.hp1
HG02738.hp1
HG02895.hp1
HG02897.hp1
HG03471.hp1
HG03831.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18940.hp1
NA18949.hp1
NA18959.hp1
NA18975.hp1
NA18988.hp1
NA19007.hp1
NA19030.hp1
NA19030.hp2
NA19067.hp1
 intron_variant MODIFIER c.-21-12816dupT
c.-21-12816dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77958785
chrX:77958785 GT
GT
 G
G
 3 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0007g0021
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0007g0021
 3 HG03041.hp2
NA20129.hp1
NA20300.hp1
HG03041.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-12816delT
c.-21-12816delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77958785
chrX:77958896 C
C
 G
G
 19 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
others(16): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0007c0016t0007g0231
a0013c0011t0007g0175
 19 HG01243.hp1
HG02258.hp1
HG02559.hp2
others(16): Show 
HG01243.hp1
HG02258.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03041.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp1
NA19030.hp2
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-12725C>G
c.-21-12725C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77958896
chrX:77959008 G
G
 A
A
 2 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0015
a0001c0001t0003g0016
 2 HG03041.hp2
NA20129.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.-21-12613G>A
c.-21-12613G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77959008
chrX:77959420 T
T
 G
G
 2 a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0011g0225
a0001c0001t0011g0226
 2 NA18965.hp1
NA19074.hp2
NA18965.hp1
NA19074.hp2
 intron_variant MODIFIER c.-21-12201T>G
c.-21-12201T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77959420
chrX:77959979 C
C
 T
T
 3 a0001c0001t0001g0139
a0001c0001t0005g0140
a0001c0001t0005g0149
a0001c0001t0001g0139
a0001c0001t0005g0140
a0001c0001t0005g0149
 3 HG02602.hp1
HG03239.hp2
HG04184.hp1
HG02602.hp1
HG03239.hp2
HG04184.hp1
 intron_variant MODIFIER c.-21-11642C>T
c.-21-11642C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77959979
chrX:77960086 A
A
 T
T
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-11535A>T
c.-21-11535A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77960086
chrX:77960297 A
A
 C
C
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-21-11324A>C
c.-21-11324A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77960297
chrX:77960473 A
A
 G
G
 4 a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
others(1): Show 
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
 4 NA18940.hp1
NA18960.hp1
NA18989.hp1
others(1): Show 
NA18940.hp1
NA18960.hp1
NA18989.hp1
NA19003.hp2
 intron_variant MODIFIER c.-21-11148A>G
c.-21-11148A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77960473
chrX:77960477 T
T
 G
G
 1 a0001c0001t0004g0211
a0001c0001t0004g0211
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.-21-11144T>G
c.-21-11144T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77960477
chrX:77960486 T
T
 C
C
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.-21-11135T>C
c.-21-11135T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77960486
chrX:77960692 C
C
 G
G
 2 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0015
a0001c0001t0003g0016
 2 HG03041.hp2
NA20129.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.-21-10929C>G
c.-21-10929C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77960692
chrX:77961065 T
T
 C
C
 1 a0001c0001t0004g0143
a0001c0001t0004g0143
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.-21-10556T>C
c.-21-10556T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77961065
chrX:77961094 G
G
 GA
GA
 2 a0001c0001t0004g0174
a0001c0001t0005g0228
a0001c0001t0004g0174
a0001c0001t0005g0228
 2 NA19001.hp1
NA19001.hp2
NA19001.hp1
NA19001.hp2
 intron_variant MODIFIER c.-21-10518dupA
c.-21-10518dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77961094
chrX:77961289 A
A
 G
G
 2 a0002c0002t0002g0040
a0002c0002t0002g0060
a0002c0002t0002g0040
a0002c0002t0002g0060
 2 HG03239.hp1
HG03654.hp1
HG03239.hp1
HG03654.hp1
 intron_variant MODIFIER c.-21-10332A>G
c.-21-10332A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77961289
chrX:77961411 G
G
 A
A
 1 a0001c0001t0001g0091
a0001c0001t0001g0091
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.-21-10210G>A
c.-21-10210G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77961411
chrX:77962233 A
A
 G
G
 1 a0001c0001t0007g0021
a0001c0001t0007g0021
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-9388A>G
c.-21-9388A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77962233
chrX:77962673 G
G
 A
A
 1 a0002c0002t0013g0075
a0002c0002t0013g0075
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.-21-8948G>A
c.-21-8948G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77962673
chrX:77962766 G
G
 A
A
 1 a0002c0002t0003g0115
a0002c0002t0003g0115
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.-21-8855G>A
c.-21-8855G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77962766
chrX:77962807 C
C
 T
T
 1 a0002c0002t0003g0028
a0002c0002t0003g0028
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.-21-8814C>T
c.-21-8814C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77962807
chrX:77962914 T
T
 C
C
 2 a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0017
a0001c0001t0007g0018
 2 HG01243.hp1
HG03453.hp1
HG01243.hp1
HG03453.hp1
 intron_variant MODIFIER c.-21-8707T>C
c.-21-8707T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77962914
chrX:77962929 A
A
 T
T
 1 a0001c0001t0010g0141
a0001c0001t0010g0141
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.-21-8692A>T
c.-21-8692A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77962929
chrX:77962972 CAT
CAT
 C
C
 1 a0002c0002t0003g0222
a0002c0002t0003g0222
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.-21-8643_-21-8642d
others(4): Show 
c.-21-8643_-21-8642delTA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77962972
chrX:77963452 G
G
 C
C
 1 a0001c0001t0005g0128
a0001c0001t0005g0128
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.-21-8169G>C
c.-21-8169G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77963452
chrX:77963629 T
T
 C
C
 1 a0002c0002t0002g0064
a0002c0002t0002g0064
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.-21-7992T>C
c.-21-7992T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77963629
chrX:77963631 A
A
 G
G
 56 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(53): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0115
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0009c0010t0026g0104
 57 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(54): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00735.hp1
HG01074.hp1
HG01258.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG03239.hp1
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03927.hp2
HG04184.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.-21-7990A>G
c.-21-7990A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77963631
chrX:77964468 T
T
 C
C
 33 a0002c0002t0002g0037
a0002c0002t0002g0044
a0002c0002t0002g0045
others(30): Show 
a0002c0002t0002g0037
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0069
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0014g0073
a0002c0002t0018g0076
a0003c0003t0002g0043
a0009c0010t0026g0104
 34 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(31): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00621.hp1
HG01258.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18994.hp1
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
 intron_variant MODIFIER c.-21-7153T>C
c.-21-7153T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77964468
chrX:77964576 C
C
 A
A
 1 a0002c0002t0003g0038
a0002c0002t0003g0038
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.-21-7045C>A
c.-21-7045C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77964576
chrX:77964683 A
A
 G
G
 3 a0001c0001t0001g0160
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0001t0001g0160
a0001c0005t0001g0158
a0001c0005t0001g0159
 3 NA18954.hp2
NA18969.hp1
NA18984.hp1
NA18954.hp2
NA18969.hp1
NA18984.hp1
 intron_variant MODIFIER c.-21-6938A>G
c.-21-6938A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77964683
chrX:77965053 CT
CT
 C
C
 1 a0010c0012t0001g0089
a0010c0012t0001g0089
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.-21-6556delT
c.-21-6556delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77965053
chrX:77965670 T
T
 G
G
 4 a0001c0001t0004g0206
a0001c0001t0004g0208
a0001c0001t0004g0209
others(1): Show 
a0001c0001t0004g0206
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0211
 4 HG01169.hp1
HG01261.hp1
HG01358.hp1
others(1): Show 
HG01169.hp1
HG01261.hp1
HG01358.hp1
HG01952.hp1
 intron_variant MODIFIER c.-21-5951T>G
c.-21-5951T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77965670
chrX:77966367 T
T
 C
C
 1 a0002c0002t0003g0065
a0002c0002t0003g0065
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.-21-5254T>C
c.-21-5254T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77966367
chrX:77966783 T
T
 C
C
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.-21-4838T>C
c.-21-4838T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77966783
chrX:77967031 C
C
 T
T
 1 a0001c0001t0005g0149
a0001c0001t0005g0149
 1 HG03239.hp2
HG03239.hp2
 intron_variant MODIFIER c.-21-4590C>T
c.-21-4590C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77967031
chrX:77967382 G
G
 A
A
 2 a0001c0001t0004g0152
a0001c0001t0004g0220
a0001c0001t0004g0152
a0001c0001t0004g0220
 2 HG02071.hp1
NA18949.hp1
HG02071.hp1
NA18949.hp1
 intron_variant MODIFIER c.-21-4239G>A
c.-21-4239G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77967382
chrX:77967531 G
G
 C
C
 2 a0001c0001t0001g0139
a0001c0001t0005g0144
a0001c0001t0001g0139
a0001c0001t0005g0144
 2 HG02602.hp1
HG04204.hp1
HG02602.hp1
HG04204.hp1
 intron_variant MODIFIER c.-21-4090G>C
c.-21-4090G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77967531
chrX:77967624 G
G
 T
T
 20 a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0049
others(17): Show 
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0049
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0074
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0009c0010t0026g0104
 21 HG00438.hp1
HG00597.hp1
HG02080.hp1
others(18): Show 
HG00438.hp1
HG00597.hp1
HG02080.hp1
NA18944.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18994.hp1
NA19004.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19085.hp1
 intron_variant MODIFIER c.-21-3997G>T
c.-21-3997G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77967624
chrX:77967872 A
A
 C
C
 1 a0002c0002t0002g0037
a0002c0002t0002g0037
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.-21-3749A>C
c.-21-3749A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77967872
chrX:77968697 G
G
 C
C
 1 a0003c0003t0002g0056
a0003c0003t0002g0056
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.-21-2924G>C
c.-21-2924G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77968697
chrX:77968814 GC
GC
 G
G
 1 a0002c0002t0002g0051
a0002c0002t0002g0051
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.-21-2806delC
c.-21-2806delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77968814
chrX:77969117 C
C
 G
G
 1 a0002c0002t0002g0062
a0002c0002t0002g0062
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.-21-2504C>G
c.-21-2504C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77969117
chrX:77969370 C
C
 T
T
 13 a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
others(10): Show 
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0013c0011t0007g0175
 13 HG02559.hp2
HG02572.hp1
HG02615.hp2
others(10): Show 
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-2251C>T
c.-21-2251C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77969370
chrX:77969516 G
G
 A
A
 1 a0001c0001t0001g0160
a0001c0001t0001g0160
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.-21-2105G>A
c.-21-2105G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77969516
chrX:77969602 C
C
 T
T
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.-21-2019C>T
c.-21-2019C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77969602
chrX:77970066 T
T
 G
G
 1 a0001c0001t0008g0124
a0001c0001t0008g0124
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.-21-1555T>G
c.-21-1555T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970066
chrX:77970133 A
A
 G
G
 5 a0001c0001t0005g0013
a0001c0001t0007g0021
a0001c0001t0010g0012
others(2): Show 
a0001c0001t0005g0013
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0028g0011
 5 HG02615.hp2
HG02809.hp1
HG02970.hp1
others(2): Show 
HG02615.hp2
HG02809.hp1
HG02970.hp1
HG03225.hp1
NA20300.hp1
 intron_variant MODIFIER c.-21-1488A>G
c.-21-1488A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970133
chrX:77970375 G
G
 C
C
 1 a0001c0008t0001g0177
a0001c0008t0001g0177
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.-21-1246G>C
c.-21-1246G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970375
chrX:77970495 A
A
 G
G
 1 a0001c0001t0004g0230
a0001c0001t0004g0230
 1 HG03831.hp1
HG03831.hp1
 intron_variant MODIFIER c.-21-1126A>G
c.-21-1126A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970495
chrX:77970657 A
A
 AT
AT
 1 a0002c0002t0013g0075
a0002c0002t0013g0075
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.-21-962dupT
c.-21-962dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 INFO_REALIGN_3_PRIME chrX 77970657
chrX:77970743 C
C
 T
T
 1 a0001c0001t0005g0147
a0001c0001t0005g0147
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.-21-878C>T
c.-21-878C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970743
chrX:77970820 C
C
 A
A
 1 a0001c0001t0028g0011
a0001c0001t0028g0011
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-21-801C>A
c.-21-801C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970820
chrX:77970820 C
C
 T
T
 1 a0001c0001t0004g0169
a0001c0001t0004g0169
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.-21-801C>T
c.-21-801C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970820
chrX:77970974 A
A
 T
T
 1 a0001c0001t0007g0004
a0001c0001t0007g0004
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.-21-647A>T
c.-21-647A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77970974
chrX:77971163 G
G
 C
C
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-21-458G>C
c.-21-458G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77971163
chrX:77971231 A
A
 G
G
 1 a0001c0001t0028g0011
a0001c0001t0028g0011
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.-21-390A>G
c.-21-390A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77971231
chrX:77971268 A
A
 G
G
 2 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0015
a0001c0001t0003g0016
 2 HG03041.hp2
NA20129.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.-21-353A>G
c.-21-353A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 1/22 chrX 77971268
chrX:77971797 T
T
 C
C
 1 a0002c0002t0003g0028
a0002c0002t0003g0028
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.120+36T>C
c.120+36T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77971797
chrX:77971955 A
A
 G
G
 30 a0002c0002t0002g0037
a0002c0002t0002g0044
a0002c0002t0002g0045
others(27): Show 
a0002c0002t0002g0037
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0054
a0002c0002t0002g0059
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0069
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0014g0073
a0002c0002t0018g0076
a0003c0003t0002g0043
a0009c0010t0026g0104
 31 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(28): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00621.hp1
HG01258.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18994.hp1
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19085.hp1
 intron_variant MODIFIER c.120+194A>G
c.120+194A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77971955
chrX:77972089 G
G
 C
C
 13 a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
others(10): Show 
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0013c0011t0007g0175
 13 HG02559.hp2
HG02572.hp1
HG02615.hp2
others(10): Show 
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.120+328G>C
c.120+328G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77972089
chrX:77972107 C
C
 T
T
 1 a0004c0004t0009g0131
a0004c0004t0009g0131
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.120+346C>T
c.120+346C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77972107
chrX:77972123 A
A
 G
G
 4 a0001c0001t0001g0157
a0001c0001t0001g0188
a0001c0001t0001g0196
others(1): Show 
a0001c0001t0001g0157
a0001c0001t0001g0188
a0001c0001t0001g0196
a0001c0001t0001g0203
 4 HG01256.hp1
HG01496.hp1
HG01928.hp1
others(1): Show 
HG01256.hp1
HG01496.hp1
HG01928.hp1
HG01934.hp1
 intron_variant MODIFIER c.120+362A>G
c.120+362A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77972123
chrX:77972357 AT
AT
 A
A
 1 a0001c0001t0024g0213
a0001c0001t0024g0213
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.120+608delT
c.120+608delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77972357
chrX:77972702 A
A
 G
G
 5 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
others(2): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.120+941A>G
c.120+941A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77972702
chrX:77973084 G
G
 T
T
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.120+1323G>T
c.120+1323G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77973084
chrX:77973259 C
C
 A
A
 1 a0001c0001t0008g0121
a0001c0001t0008g0121
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.120+1498C>A
c.120+1498C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77973259
chrX:77973850 A
A
 C
C
 12 a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0186
others(9): Show 
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0230
 12 HG01169.hp1
HG01261.hp1
HG01358.hp1
others(9): Show 
HG01169.hp1
HG01261.hp1
HG01358.hp1
HG01952.hp1
HG02074.hp1
HG02273.hp1
HG03831.hp1
NA18959.hp1
NA18975.hp1
NA18982.hp1
NA18986.hp1
NA20300.hp2
 intron_variant MODIFIER c.120+2089A>C
c.120+2089A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77973850
chrX:77974148 G
G
 GT
GT
 7 a0001c0001t0005g0013
a0001c0001t0007g0021
a0001c0001t0008g0122
others(4): Show 
a0001c0001t0005g0013
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0028g0011
a0002c0002t0006g0105
 7 HG02258.hp1
HG02615.hp2
HG02809.hp1
others(4): Show 
HG02258.hp1
HG02615.hp2
HG02809.hp1
HG02970.hp1
HG03225.hp1
NA19076.hp1
NA20300.hp1
 intron_variant MODIFIER c.120+2402dupT
c.120+2402dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77974148
chrX:77974148 GT
GT
 G
G
 1 a0001c0001t0004g0206
a0001c0001t0004g0206
 1 HG01169.hp1
HG01169.hp1
 intron_variant MODIFIER c.120+2402delT
c.120+2402delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77974148
chrX:77974155 T
T
 G
G
 24 a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
others(21): Show 
a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0011c0015t0005g0127
 24 HG00558.hp2
HG01167.hp1
HG01169.hp2
others(21): Show 
HG00558.hp2
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02451.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03041.hp1
HG03540.hp2
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA20129.hp2
 intron_variant MODIFIER c.120+2394T>G
c.120+2394T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77974155
chrX:77974479 CT
CT
 C
C
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.120+2728delT
c.120+2728delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77974479
chrX:77974658 G
G
 GT
GT
 1 a0002c0002t0006g0109
a0002c0002t0006g0109
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.120+2904dupT
c.120+2904dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77974658
chrX:77974881 A
A
 AT
AT
 2 a0001c0001t0001g0164
a0002c0002t0002g0067
a0001c0001t0001g0164
a0002c0002t0002g0067
 2 NA19065.hp1
NA19065.hp2
NA19065.hp1
NA19065.hp2
 intron_variant MODIFIER c.120+3129dupT
c.120+3129dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77974881
chrX:77975248 C
C
 T
T
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.120+3487C>T
c.120+3487C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77975248
chrX:77975459 C
C
 T
T
 1 a0002c0002t0002g0195
a0002c0002t0002g0195
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.120+3698C>T
c.120+3698C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77975459
chrX:77975481 C
C
 CT
CT
 14 a0001c0001t0001g0025
a0001c0001t0001g0118
a0001c0001t0001g0218
others(11): Show 
a0001c0001t0001g0025
a0001c0001t0001g0118
a0001c0001t0001g0218
a0001c0001t0004g0161
a0001c0001t0004g0169
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0220
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0017
a0001c0005t0001g0159
a0007c0016t0007g0231
a0010c0012t0001g0089
 14 HG01243.hp1
HG02074.hp1
HG03209.hp1
others(11): Show 
HG01243.hp1
HG02074.hp1
HG03209.hp1
HG03471.hp1
HG03927.hp1
HG04115.hp1
HG04199.hp1
NA18949.hp1
NA18975.hp1
NA18977.hp1
NA18984.hp1
NA18988.hp1
NA19012.hp1
NA19030.hp2
 intron_variant MODIFIER c.120+3747dupT
c.120+3747dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77975481
chrX:77975481 CT
CT
 C
C
 95 a0001c0001t0001g0093
a0001c0001t0001g0162
a0001c0001t0001g0164
others(92): Show 
a0001c0001t0001g0093
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0004g0027
a0001c0001t0004g0229
a0001c0001t0005g0137
a0001c0001t0005g0142
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0010g0012
a0001c0001t0011g0225
a0001c0001t0020g0014
a0001c0001t0028g0011
a0001c0014t0005g0146
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
a0013c0011t0007g0175
 96 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(93): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02615.hp2
HG02683.hp1
HG02698.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03654.hp1
HG03831.hp2
HG04184.hp2
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.120+3747delT
c.120+3747delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77975481
chrX:77975481 CTT
CTT
 C
C
 4 a0001c0001t0005g0013
a0001c0001t0011g0226
a0002c0002t0002g0068
others(1): Show 
a0001c0001t0005g0013
a0001c0001t0011g0226
a0002c0002t0002g0068
a0002c0002t0003g0058
 4 HG01069.hp1
HG02809.hp1
HG03710.hp1
others(1): Show 
HG01069.hp1
HG02809.hp1
HG03710.hp1
NA19074.hp2
 intron_variant MODIFIER c.120+3746_120+3747d
others(4): Show 
c.120+3746_120+3747delTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77975481
chrX:77975508 T
T
 A
A
 29 a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0126
others(26): Show 
a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0002c0002t0003g0115
a0004c0004t0009g0133
a0005c0006t0008g0120
a0006c0007t0005g0138
a0011c0015t0005g0127
 29 HG00558.hp2
HG01109.hp1
HG01167.hp1
others(26): Show 
HG00558.hp2
HG01109.hp1
HG01167.hp1
HG02015.hp1
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02602.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG04184.hp1
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.120+3747T>A
c.120+3747T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77975508
chrX:77975508 T
T
 TA
TA
 4 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0134
others(1): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0134
a0004c0004t0009g0135
 4 HG01169.hp2
HG01884.hp2
HG02451.hp1
others(1): Show 
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.120+3748dupA
c.120+3748dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77975508
chrX:77975516 A
A
 C
C
 1 a0001c0001t0005g0010
a0001c0001t0005g0010
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.120+3755A>C
c.120+3755A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77975516
chrX:77975734 G
G
 A
A
 1 a0001c0001t0001g0160
a0001c0001t0001g0160
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.120+3973G>A
c.120+3973G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77975734
chrX:77975741 T
T
 TC
TC
 1 a0010c0012t0001g0089
a0010c0012t0001g0089
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.120+3981dupC
c.120+3981dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77975741
chrX:77975839 G
G
 C
C
 23 a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0038
others(20): Show 
a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0013g0075
a0002c0002t0016g0084
a0008c0009t0003g0078
 23 HG00733.hp2
HG00735.hp2
HG00738.hp1
others(20): Show 
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01081.hp2
HG01255.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02273.hp2
HG02451.hp2
HG02559.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03453.hp2
HG03831.hp2
NA18522.hp1
NA18906.hp1
NA19030.hp1
 intron_variant MODIFIER c.120+4078G>C
c.120+4078G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77975839
chrX:77975844 A
A
 T
T
 5 a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
others(2): Show 
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0013c0011t0007g0175
 5 HG02559.hp2
HG02895.hp1
HG02897.hp1
others(2): Show 
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.120+4083A>T
c.120+4083A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77975844
chrX:77976122 A
A
 T
T
 14 a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
others(11): Show 
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0013c0011t0007g0175
 14 HG02258.hp1
HG02559.hp2
HG02572.hp1
others(11): Show 
HG02258.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.120+4361A>T
c.120+4361A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77976122
chrX:77977232 A
A
 C
C
 2 a0001c0001t0005g0128
a0001c0001t0005g0130
a0001c0001t0005g0128
a0001c0001t0005g0130
 2 HG02615.hp1
HG02886.hp2
HG02615.hp1
HG02886.hp2
 intron_variant MODIFIER c.120+5471A>C
c.120+5471A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77977232
chrX:77977588 G
G
 A
A
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 HG00642.hp1
HG00642.hp1
 intron_variant MODIFIER c.120+5827G>A
c.120+5827G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77977588
chrX:77977750 C
C
 A
A
 2 a0001c0001t0004g0165
a0001c0001t0004g0197
a0001c0001t0004g0165
a0001c0001t0004g0197
 2 NA18947.hp1
NA18977.hp1
NA18947.hp1
NA18977.hp1
 intron_variant MODIFIER c.120+5989C>A
c.120+5989C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77977750
chrX:77978612 T
T
 A
A
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.120+6851T>A
c.120+6851T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77978612
chrX:77978787 TATG
TATG
 T
T
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.120+7029_120+7031d
others(5): Show 
c.120+7029_120+7031delGAT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77978787
chrX:77979075 G
G
 A
A
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.120+7314G>A
c.120+7314G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77979075
chrX:77979590 G
G
 A
A
 1 a0002c0002t0002g0023
a0002c0002t0002g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.120+7829G>A
c.120+7829G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77979590
chrX:77980764 G
G
 A
A
 56 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(53): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0115
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0009c0010t0026g0104
 57 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(54): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00735.hp1
HG01074.hp1
HG01258.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG03239.hp1
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03927.hp2
HG04184.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.121-7478G>A
c.121-7478G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77980764
chrX:77981154 CTT
CTT
 C
C
 1 a0001c0001t0001g0094
a0001c0001t0001g0094
 1 HG00673.hp1
HG00673.hp1
 intron_variant MODIFIER c.121-7082_121-7081d
others(4): Show 
c.121-7082_121-7081delTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77981154
chrX:77981172 C
C
 T
T
 4 a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
others(1): Show 
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0013c0011t0007g0175
 4 HG02895.hp1
HG02897.hp1
HG03209.hp1
others(1): Show 
HG02895.hp1
HG02897.hp1
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.121-7070C>T
c.121-7070C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77981172
chrX:77981220 G
G
 C
C
 1 a0005c0006t0008g0119
a0005c0006t0008g0119
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.121-7022G>C
c.121-7022G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77981220
chrX:77981588 T
T
 C
C
 1 a0001c0001t0004g0169
a0001c0001t0004g0169
 1 NA18988.hp1
NA18988.hp1
 intron_variant MODIFIER c.121-6654T>C
c.121-6654T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77981588
chrX:77982054 T
T
 C
C
 1 a0001c0001t0005g0148
a0001c0001t0005g0148
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.121-6188T>C
c.121-6188T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77982054
chrX:77982693 G
G
 A
A
 2 a0001c0001t0005g0128
a0001c0001t0005g0130
a0001c0001t0005g0128
a0001c0001t0005g0130
 2 HG02615.hp1
HG02886.hp2
HG02615.hp1
HG02886.hp2
 intron_variant MODIFIER c.121-5549G>A
c.121-5549G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77982693
chrX:77983238 A
A
 G
G
 5 a0001c0001t0001g0026
a0001c0001t0001g0052
a0001c0001t0001g0162
others(2): Show 
a0001c0001t0001g0026
a0001c0001t0001g0052
a0001c0001t0001g0162
a0001c0001t0001g0173
a0001c0001t0001g0185
 5 HG00733.hp1
HG01517.hp1
HG02080.hp2
others(2): Show 
HG00733.hp1
HG01517.hp1
HG02080.hp2
HG02145.hp1
NA20752.hp1
 intron_variant MODIFIER c.121-5004A>G
c.121-5004A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77983238
chrX:77983704 C
C
 CT
CT
 1 a0001c0001t0005g0129
a0001c0001t0005g0129
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.121-4526dupT
c.121-4526dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77983704
chrX:77983716 T
T
 C
C
 1 a0001c0001t0004g0210
a0001c0001t0004g0210
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.121-4526T>C
c.121-4526T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77983716
chrX:77983734 T
T
 A
A
 3 a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
 3 HG02258.hp1
HG02922.hp2
HG03195.hp2
HG02258.hp1
HG02922.hp2
HG03195.hp2
 intron_variant MODIFIER c.121-4508T>A
c.121-4508T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77983734
chrX:77983979 C
C
 T
T
 6 a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
others(3): Show 
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0010g0020
a0011c0015t0005g0127
 6 HG02615.hp1
HG02717.hp1
HG02809.hp2
others(3): Show 
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.121-4263C>T
c.121-4263C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77983979
chrX:77984275 G
G
 A
A
 31 a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0126
others(28): Show 
a0001c0001t0001g0139
a0001c0001t0004g0143
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0006c0007t0005g0138
a0011c0015t0005g0127
 31 HG00558.hp2
HG01109.hp1
HG01167.hp1
others(28): Show 
HG00558.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02015.hp1
HG02165.hp2
HG02280.hp2
HG02451.hp1
HG02602.hp1
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG04184.hp1
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.121-3967G>A
c.121-3967G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77984275
chrX:77984332 C
C
 CT
CT
 3 a0001c0001t0001g0118
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0001g0118
a0001c0001t0008g0123
a0001c0001t0008g0124
 3 HG02922.hp2
HG03195.hp2
HG04115.hp1
HG02922.hp2
HG03195.hp2
HG04115.hp1
 intron_variant MODIFIER c.121-3897dupT
c.121-3897dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77984332
chrX:77984332 CT
CT
 C
C
 2 a0001c0001t0001g0172
a0002c0002t0002g0049
a0001c0001t0001g0172
a0002c0002t0002g0049
 2 NA18951.hp1
NA19089.hp1
NA18951.hp1
NA19089.hp1
 intron_variant MODIFIER c.121-3897delT
c.121-3897delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77984332
chrX:77984572 G
G
 T
T
 1 a0001c0001t0001g0202
a0001c0001t0001g0202
 1 NA18995.hp1
NA18995.hp1
 intron_variant MODIFIER c.121-3670G>T
c.121-3670G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77984572
chrX:77984655 C
C
 T
T
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.121-3587C>T
c.121-3587C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77984655
chrX:77985028 A
A
 AT
AT
 1 a0001c0001t0001g0155
a0001c0001t0001g0155
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.121-3203dupT
c.121-3203dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77985028
chrX:77985083 G
G
 A
A
 4 a0001c0001t0001g0157
a0001c0001t0001g0188
a0001c0001t0001g0196
others(1): Show 
a0001c0001t0001g0157
a0001c0001t0001g0188
a0001c0001t0001g0196
a0001c0001t0001g0203
 4 HG01256.hp1
HG01496.hp1
HG01928.hp1
others(1): Show 
HG01256.hp1
HG01496.hp1
HG01928.hp1
HG01934.hp1
 intron_variant MODIFIER c.121-3159G>A
c.121-3159G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77985083
chrX:77985162 G
G
 C
C
 1 a0001c0001t0003g0016
a0001c0001t0003g0016
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.121-3080G>C
c.121-3080G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77985162
chrX:77985168 GTCACCAT
others(10): Show 
GTCACCATGCCTGGGTAA
 G
G
 3 a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 3 NA18965.hp1
NA19001.hp2
NA19074.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.121-3072_121-3056d
others(19): Show 
c.121-3072_121-3056delCACCATGCCTGGGTAAT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77985168
chrX:77985187 T
T
 A
A
 3 a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 3 NA18965.hp1
NA19001.hp2
NA19074.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.121-3055T>A
c.121-3055T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77985187
chrX:77985188 T
T
 G
G
 3 a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 3 NA18965.hp1
NA19001.hp2
NA19074.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.121-3054T>G
c.121-3054T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77985188
chrX:77985387 T
T
 TG
TG
 3 a0001c0001t0007g0017
a0002c0002t0002g0051
a0002c0002t0002g0055
a0001c0001t0007g0017
a0002c0002t0002g0051
a0002c0002t0002g0055
 3 HG01243.hp1
NA18947.hp2
NA19082.hp1
HG01243.hp1
NA18947.hp2
NA19082.hp1
 intron_variant MODIFIER c.121-2847dupG
c.121-2847dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77985387
chrX:77985448 A
A
 T
T
 1 a0001c0001t0010g0020
a0001c0001t0010g0020
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.121-2794A>T
c.121-2794A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77985448
chrX:77985646 G
G
 GT
GT
 82 a0001c0001t0001g0025
a0001c0001t0001g0088
a0001c0001t0001g0100
others(79): Show 
a0001c0001t0001g0025
a0001c0001t0001g0088
a0001c0001t0001g0100
a0001c0001t0001g0164
a0001c0001t0001g0173
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
 83 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(80): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp1
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18989.hp1
NA18994.hp1
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.121-2588dupT
c.121-2588dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77985646
chrX:77985646 G
G
 GTT
GTT
 1 a0002c0002t0002g0223
a0002c0002t0002g0223
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.121-2589_121-2588d
others(4): Show 
c.121-2589_121-2588dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77985646
chrX:77985735 G
G
 T
T
 2 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0015
a0001c0001t0003g0016
 2 HG03041.hp2
NA20129.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.121-2507G>T
c.121-2507G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77985735
chrX:77986071 A
A
 AT
AT
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.121-2162dupT
c.121-2162dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77986071
chrX:77986643 G
G
 A
A
 12 a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
others(9): Show 
a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0014t0005g0146
 12 HG00558.hp2
HG02015.hp1
HG02165.hp2
others(9): Show 
HG00558.hp2
HG02015.hp1
HG02165.hp2
HG04204.hp1
NA18948.hp1
NA18949.hp2
NA18954.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.121-1599G>A
c.121-1599G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77986643
chrX:77987084 G
G
 C
C
 1 a0001c0001t0001g0155
a0001c0001t0001g0155
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.121-1158G>C
c.121-1158G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987084
chrX:77987164 T
T
 G
G
 1 a0002c0002t0003g0222
a0002c0002t0003g0222
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.121-1078T>G
c.121-1078T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987164
chrX:77987217 G
G
 A
A
 6 a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
others(3): Show 
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0005c0006t0008g0119
a0005c0006t0008g0120
 6 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.121-1025G>A
c.121-1025G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987217
chrX:77987444 T
T
 TG
TG
 1 a0001c0001t0001g0101
a0001c0001t0001g0101
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.121-798_121-797ins
others(1): Show 
c.121-798_121-797insG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987444
chrX:77987444 T
T
 TGTG
TGTG
 3 a0001c0001t0001g0173
a0001c0001t0001g0178
a0001c0001t0004g0215
a0001c0001t0001g0173
a0001c0001t0001g0178
a0001c0001t0004g0215
 3 HG00733.hp1
HG01081.hp1
NA18987.hp2
HG00733.hp1
HG01081.hp1
NA18987.hp2
 intron_variant MODIFIER c.121-798_121-797ins
others(3): Show 
c.121-798_121-797insGTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987444
chrX:77987444 T
T
 TGTGTG
TGTGTG
 1 a0001c0001t0001g0180
a0001c0001t0001g0180
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.121-798_121-797ins
others(5): Show 
c.121-798_121-797insGTGTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987444
chrX:77987444 T
T
 TGTGTGTG
TGTGTGTG
 1 a0001c0001t0005g0144
a0001c0001t0005g0144
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.121-798_121-797ins
others(7): Show 
c.121-798_121-797insGTGTGTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987444
chrX:77987444 T
T
 TTG
TTG
 80 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(77): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0041
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0150
a0001c0001t0001g0155
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0172
a0001c0001t0001g0176
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0205
a0001c0001t0001g0216
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0019g0184
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0027g0198
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0003c0003t0002g0047
a0010c0012t0001g0089
a0012c0013t0017g0102
a0014c0017t0004g0189
 80 HG00140.hp1
HG00558.hp1
HG00642.hp1
others(77): Show 
HG00140.hp1
HG00558.hp1
HG00642.hp1
HG00673.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01261.hp1
HG01358.hp1
HG01517.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02273.hp1
HG02572.hp1
HG02647.hp1
HG02735.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03195.hp1
HG03239.hp2
HG03453.hp1
HG03492.hp1
HG03579.hp1
HG03688.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18942.hp2
NA18947.hp1
NA18949.hp1
NA18951.hp2
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18969.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19055.hp1
NA19056.hp1
NA19065.hp2
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19075.hp1
NA19083.hp1
NA19089.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.121-756_121-755dup
others(2): Show 
c.121-756_121-755dupGT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987444
chrX:77987444 T
T
 TTGTG
TTGTG
 54 a0001c0001t0001g0034
a0001c0001t0001g0118
a0001c0001t0001g0139
others(51): Show 
a0001c0001t0001g0034
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0151
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0170
a0001c0001t0001g0179
a0001c0001t0001g0185
a0001c0001t0001g0188
a0001c0001t0001g0196
a0001c0001t0001g0201
a0001c0001t0001g0203
a0001c0001t0001g0218
a0001c0001t0004g0027
a0001c0001t0004g0174
a0001c0001t0004g0229
a0001c0001t0005g0013
a0001c0001t0005g0126
a0001c0001t0005g0140
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0028g0011
a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0058
a0002c0002t0003g0065
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0016g0084
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0013c0011t0007g0175
 54 HG00735.hp2
HG00738.hp1
HG01069.hp1
others(51): Show 
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01167.hp1
HG01169.hp2
HG01255.hp1
HG01256.hp1
HG01496.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG02258.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp1
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02922.hp2
HG02970.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18906.hp1
NA18961.hp1
NA19001.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20752.hp1
 intron_variant MODIFIER c.121-758_121-755dup
others(4): Show 
c.121-758_121-755dupGTGT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987444
chrX:77987444 T
T
 TTGTGTG
TTGTGTG
 25 a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
others(22): Show 
a0001c0001t0004g0143
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0128
a0001c0001t0005g0130
a0001c0001t0005g0142
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0020
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0003g0046
a0002c0002t0003g0063
a0002c0002t0003g0066
a0002c0002t0003g0085
a0002c0002t0003g0222
a0002c0002t0013g0075
a0005c0006t0008g0119
a0005c0006t0008g0120
a0011c0015t0005g0127
 25 HG00558.hp2
HG00733.hp2
HG01081.hp2
others(22): Show 
HG00558.hp2
HG00733.hp2
HG01081.hp2
HG01496.hp2
HG01943.hp1
HG02015.hp1
HG02165.hp2
HG02280.hp1
HG02615.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG03139.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03831.hp2
NA18948.hp1
NA18949.hp2
NA18954.hp1
NA18962.hp1
NA18965.hp1
NA18970.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.121-760_121-755dup
others(6): Show 
c.121-760_121-755dupGTGTGT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987444
chrX:77987444 T
T
 TTGTGTGT
others(1): Show 
TTGTGTGTG
 2 a0001c0001t0005g0129
a0002c0002t0003g0083
a0001c0001t0005g0129
a0002c0002t0003g0083
 2 HG02922.hp1
NA18906.hp2
HG02922.hp1
NA18906.hp2
 intron_variant MODIFIER c.121-762_121-755dup
others(8): Show 
c.121-762_121-755dupGTGTGTGT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987444
chrX:77987444 TTG
TTG
 T
T
 3 a0001c0001t0001g0052
a0001c0001t0004g0154
a0001c0001t0004g0214
a0001c0001t0001g0052
a0001c0001t0004g0154
a0001c0001t0004g0214
 3 HG00597.hp2
HG02080.hp2
NA19067.hp1
HG00597.hp2
HG02080.hp2
NA19067.hp1
 intron_variant MODIFIER c.121-756_121-755del
others(2): Show 
c.121-756_121-755delGT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987444
chrX:77987444 TTGTGTG
TTGTGTG
 T
T
 1 a0001c0001t0007g0004
a0001c0001t0007g0004
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.121-760_121-755del
others(6): Show 
c.121-760_121-755delGTGTGT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987444
chrX:77987455 T
T
 TGTGTG
TGTGTG
 1 a0002c0002t0002g0074
a0002c0002t0002g0074
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.121-786_121-782dup
others(5): Show 
c.121-786_121-782dupGTGTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987455
chrX:77987455 T
T
 TGTGTGC
TGTGTGC
 1 a0002c0002t0002g0068
a0002c0002t0002g0068
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.121-782_121-781ins
others(6): Show 
c.121-782_121-781insCGTGTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987455
chrX:77987457 T
T
 TGTGC
TGTGC
 50 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(47): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0069
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0115
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0009c0010t0026g0104
 51 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(48): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00735.hp1
HG01074.hp1
HG01258.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02486.hp1
HG02683.hp1
HG03239.hp1
HG03516.hp2
HG03654.hp1
HG03927.hp2
HG04184.hp2
NA18940.hp1
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18989.hp1
NA18994.hp1
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.121-782_121-781ins
others(4): Show 
c.121-782_121-781insCGTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 INFO_REALIGN_3_PRIME chrX 77987457
chrX:77987461 T
T
 C
C
 3 a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
 3 NA18943.hp1
NA18969.hp2
NA19064.hp2
NA18943.hp1
NA18969.hp2
NA19064.hp2
 intron_variant MODIFIER c.121-781T>C
c.121-781T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987461
chrX:77987819 T
T
 C
C
 3 a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0062
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0062
 3 HG00597.hp1
NA18952.hp1
NA19066.hp1
HG00597.hp1
NA18952.hp1
NA19066.hp1
 intron_variant MODIFIER c.121-423T>C
c.121-423T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77987819
chrX:77988061 T
T
 C
C
 1 a0001c0001t0027g0198
a0001c0001t0027g0198
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.121-181T>C
c.121-181T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 2/22 chrX 77988061
chrX:77988739 G
G
 A
A
 2 a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0008g0123
a0001c0001t0008g0124
 2 HG02922.hp2
HG03195.hp2
HG02922.hp2
HG03195.hp2
 splice_region_variant&intron_variant LOW c.610+8G>A
c.610+8G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 3/22 chrX 77988739
chrX:77989108 TAAGA
TAAGA
 T
T
 1 a0001c0001t0005g0128
a0001c0001t0005g0128
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.611-122_611-119del
others(4): Show 
c.611-122_611-119delGAAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 3/22 INFO_REALIGN_3_PRIME chrX 77989108
chrX:77990012 T
T
 C
C
 5 a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
others(2): Show 
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 5 HG02165.hp2
NA18949.hp2
NA18965.hp1
others(2): Show 
HG02165.hp2
NA18949.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.1336+54T>C
c.1336+54T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77990012
chrX:77990184 A
A
 G
G
 1 a0002c0002t0002g0067
a0002c0002t0002g0067
 1 NA19065.hp1
NA19065.hp1
 intron_variant MODIFIER c.1336+226A>G
c.1336+226A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77990184
chrX:77990344 C
C
 T
T
 14 a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
others(11): Show 
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0013c0011t0007g0175
 14 HG02258.hp1
HG02559.hp2
HG02572.hp1
others(11): Show 
HG02258.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.1336+386C>T
c.1336+386C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77990344
chrX:77990738 A
A
 G
G
 1 a0002c0002t0002g0070
a0002c0002t0002g0070
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.1336+780A>G
c.1336+780A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77990738
chrX:77991218 C
C
 A
A
 1 a0001c0001t0001g0172
a0001c0001t0001g0172
 1 NA19089.hp1
NA19089.hp1
 intron_variant MODIFIER c.1336+1260C>A
c.1336+1260C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77991218
chrX:77991453 GT
GT
 G
G
 1 a0001c0001t0005g0224
a0001c0001t0005g0224
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1336+1501delT
c.1336+1501delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77991453
chrX:77991932 A
A
 G
G
 5 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
others(2): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.1336+1974A>G
c.1336+1974A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77991932
chrX:77992068 C
C
 CT
CT
 2 a0002c0002t0002g0223
a0003c0003t0002g0043
a0002c0002t0002g0223
a0003c0003t0002g0043
 2 HG02135.hp1
HG02165.hp1
HG02135.hp1
HG02165.hp1
 intron_variant MODIFIER c.1336+2124dupT
c.1336+2124dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77992068
chrX:77992068 CT
CT
 C
C
 2 a0001c0001t0001g0092
a0004c0004t0009g0133
a0001c0001t0001g0092
a0004c0004t0009g0133
 2 HG01167.hp1
NA19075.hp1
HG01167.hp1
NA19075.hp1
 intron_variant MODIFIER c.1336+2124delT
c.1336+2124delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77992068
chrX:77992256 G
G
 A
A
 2 a0001c0001t0007g0008
a0013c0011t0007g0175
a0001c0001t0007g0008
a0013c0011t0007g0175
 2 HG02895.hp1
HG02897.hp1
HG02895.hp1
HG02897.hp1
 intron_variant MODIFIER c.1336+2298G>A
c.1336+2298G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77992256
chrX:77992680 C
C
 T
T
 1 a0001c0001t0005g0148
a0001c0001t0005g0148
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.1336+2722C>T
c.1336+2722C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77992680
chrX:77992928 T
T
 A
A
 1 a0001c0001t0004g0220
a0001c0001t0004g0220
 1 NA18949.hp1
NA18949.hp1
 intron_variant MODIFIER c.1336+2970T>A
c.1336+2970T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77992928
chrX:77993336 C
C
 A
A
 1 a0001c0001t0010g0012
a0001c0001t0010g0012
 1 HG02615.hp2
HG02615.hp2
 intron_variant MODIFIER c.1336+3378C>A
c.1336+3378C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77993336
chrX:77993742 GA
GA
 G
G
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1336+3790delA
c.1336+3790delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77993742
chrX:77993912 A
A
 AT
AT
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1336+3961dupT
c.1336+3961dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77993912
chrX:77994171 T
T
 G
G
 1 a0001c0001t0005g0126
a0001c0001t0005g0126
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1336+4213T>G
c.1336+4213T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77994171
chrX:77994545 CT
CT
 C
C
 1 a0002c0002t0012g0114
a0002c0002t0012g0114
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.1337-3921delT
c.1337-3921delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77994545
chrX:77994631 C
C
 T
T
 9 a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
others(6): Show 
a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0006c0007t0005g0138
 9 HG01109.hp1
HG02280.hp2
HG02602.hp1
others(6): Show 
HG01109.hp1
HG02280.hp2
HG02602.hp1
HG02965.hp1
HG03239.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.1337-3847C>T
c.1337-3847C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77994631
chrX:77994643 G
G
 C
C
 1 a0001c0001t0005g0130
a0001c0001t0005g0130
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.1337-3835G>C
c.1337-3835G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77994643
chrX:77995301 AC
AC
 A
A
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.1337-3176delC
c.1337-3176delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77995301
chrX:77995302 C
C
 T
T
 13 a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
others(10): Show 
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0013c0011t0007g0175
 13 HG02559.hp2
HG02572.hp1
HG02615.hp2
others(10): Show 
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.1337-3176C>T
c.1337-3176C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77995302
chrX:77995307 G
G
 A
A
 4 a0001c0001t0004g0143
a0001c0001t0005g0142
a0001c0001t0005g0145
others(1): Show 
a0001c0001t0004g0143
a0001c0001t0005g0142
a0001c0001t0005g0145
a0001c0014t0005g0146
 4 HG00558.hp2
HG02015.hp1
NA18948.hp1
others(1): Show 
HG00558.hp2
HG02015.hp1
NA18948.hp1
NA18970.hp1
 intron_variant MODIFIER c.1337-3171G>A
c.1337-3171G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77995307
chrX:77995567 C
C
 CA
CA
 4 a0001c0001t0001g0155
a0001c0001t0001g0182
a0001c0001t0004g0167
others(1): Show 
a0001c0001t0001g0155
a0001c0001t0001g0182
a0001c0001t0004g0167
a0012c0013t0017g0102
 4 HG01106.hp1
HG02027.hp1
NA18985.hp1
others(1): Show 
HG01106.hp1
HG02027.hp1
NA18985.hp1
NA19074.hp1
 intron_variant MODIFIER c.1337-2890dupA
c.1337-2890dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77995567
chrX:77995567 CA
CA
 C
C
 127 a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0139
others(124): Show 
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0192
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 128 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(125): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18612.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18982.hp1
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1337-2890delA
c.1337-2890delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77995567
chrX:77995567 CAA
CAA
 C
C
 2 a0001c0001t0007g0008
a0006c0007t0005g0138
a0001c0001t0007g0008
a0006c0007t0005g0138
 2 HG02280.hp2
HG02895.hp1
HG02280.hp2
HG02895.hp1
 intron_variant MODIFIER c.1337-2891_1337-289
others(6): Show 
c.1337-2891_1337-2890delAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77995567
chrX:77995893 G
G
 A
A
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1337-2585G>A
c.1337-2585G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77995893
chrX:77996004 C
C
 G
G
 1 a0002c0002t0002g0071
a0002c0002t0002g0071
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.1337-2474C>G
c.1337-2474C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77996004
chrX:77996036 T
T
 C
C
 134 a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
others(131): Show 
a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0143
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 135 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(132): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1337-2442T>C
c.1337-2442T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77996036
chrX:77996211 C
C
 T
T
 3 a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0055
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0055
 3 HG02040.hp1
NA18947.hp2
NA19082.hp1
HG02040.hp1
NA18947.hp2
NA19082.hp1
 intron_variant MODIFIER c.1337-2267C>T
c.1337-2267C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77996211
chrX:77996260 T
T
 C
C
 1 a0001c0001t0004g0197
a0001c0001t0004g0197
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.1337-2218T>C
c.1337-2218T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77996260
chrX:77996780 CT
CT
 C
C
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1337-1689delT
c.1337-1689delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77996780
chrX:77997172 A
A
 G
G
 2 a0002c0002t0002g0051
a0002c0002t0002g0055
a0002c0002t0002g0051
a0002c0002t0002g0055
 2 NA18947.hp2
NA19082.hp1
NA18947.hp2
NA19082.hp1
 intron_variant MODIFIER c.1337-1306A>G
c.1337-1306A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77997172
chrX:77997565 T
T
 G
G
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1337-913T>G
c.1337-913T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77997565
chrX:77997592 G
G
 A
A
 20 a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0049
others(17): Show 
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0049
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0074
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0009c0010t0026g0104
 21 HG00438.hp1
HG00597.hp1
HG02080.hp1
others(18): Show 
HG00438.hp1
HG00597.hp1
HG02080.hp1
NA18944.hp1
NA18945.hp1
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18994.hp1
NA19004.hp1
NA19011.hp2
NA19062.hp1
NA19063.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19085.hp1
 intron_variant MODIFIER c.1337-886G>A
c.1337-886G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77997592
chrX:77997610 CT
CT
 C
C
 1 a0002c0002t0003g0115
a0002c0002t0003g0115
 1 NA21309.hp2
NA21309.hp2
 intron_variant MODIFIER c.1337-856delT
c.1337-856delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77997610
chrX:77997689 A
A
 G
G
 5 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0007g0017
others(2): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0007g0017
a0001c0001t0007g0018
a0007c0016t0007g0231
 5 HG01243.hp1
HG03041.hp2
HG03453.hp1
others(2): Show 
HG01243.hp1
HG03041.hp2
HG03453.hp1
NA19030.hp2
NA20129.hp1
 intron_variant MODIFIER c.1337-789A>G
c.1337-789A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77997689
chrX:77997992 AC
AC
 A
A
 3 a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
 3 HG00140.hp1
HG01081.hp1
NA20805.hp1
HG00140.hp1
HG01081.hp1
NA20805.hp1
 intron_variant MODIFIER c.1337-479delC
c.1337-479delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 INFO_REALIGN_3_PRIME chrX 77997992
chrX:77997994 C
C
 A
A
 3 a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
 3 HG00140.hp1
HG01081.hp1
NA20805.hp1
HG00140.hp1
HG01081.hp1
NA20805.hp1
 intron_variant MODIFIER c.1337-484C>A
c.1337-484C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 4/22 chrX 77997994
chrX:77998768 G
G
 GT
GT
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1543+86dupT
c.1543+86dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77998768
chrX:77998915 T
T
 TA
TA
 2 a0002c0002t0003g0080
a0002c0002t0003g0086
a0002c0002t0003g0080
a0002c0002t0003g0086
 2 HG03098.hp1
NA18522.hp1
HG03098.hp1
NA18522.hp1
 intron_variant MODIFIER c.1543+240dupA
c.1543+240dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77998915
chrX:77998915 TA
TA
 T
T
 5 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
others(2): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.1543+240delA
c.1543+240delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77998915
chrX:77998998 A
A
 AT
AT
 5 a0001c0001t0004g0154
a0002c0002t0003g0028
a0002c0002t0003g0046
others(2): Show 
a0001c0001t0004g0154
a0002c0002t0003g0028
a0002c0002t0003g0046
a0003c0003t0002g0056
a0012c0013t0017g0102
 5 HG00733.hp2
HG04184.hp2
NA18985.hp1
others(2): Show 
HG00733.hp2
HG04184.hp2
NA18985.hp1
NA18989.hp1
NA19067.hp1
 intron_variant MODIFIER c.1543+330dupT
c.1543+330dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77998998
chrX:77998998 AT
AT
 A
A
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.1543+330delT
c.1543+330delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77998998
chrX:77999099 C
C
 T
T
 1 a0002c0002t0015g0009
a0002c0002t0015g0009
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1543+415C>T
c.1543+415C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 77999099
chrX:77999486 C
C
 A
A
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1543+802C>A
c.1543+802C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 77999486
chrX:77999628 G
G
 T
T
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.1543+944G>T
c.1543+944G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 77999628
chrX:77999643 C
C
 T
T
 5 a0001c0001t0008g0121
a0001c0001t0008g0123
a0001c0001t0008g0124
others(2): Show 
a0001c0001t0008g0121
a0001c0001t0008g0123
a0001c0001t0008g0124
a0005c0006t0008g0119
a0005c0006t0008g0120
 5 HG02280.hp1
HG02886.hp1
HG02922.hp2
others(2): Show 
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.1543+959C>T
c.1543+959C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 77999643
chrX:77999783 A
A
 AG
AG
 2 a0002c0002t0002g0050
a0008c0009t0003g0078
a0002c0002t0002g0050
a0008c0009t0003g0078
 2 HG00735.hp1
HG00735.hp2
HG00735.hp1
HG00735.hp2
 intron_variant MODIFIER c.1543+1100dupG
c.1543+1100dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77999783
chrX:77999907 C
C
 CA
CA
 26 a0001c0001t0001g0005
a0001c0001t0001g0139
a0001c0001t0001g0176
others(23): Show 
a0001c0001t0001g0005
a0001c0001t0001g0139
a0001c0001t0001g0176
a0001c0001t0001g0205
a0001c0001t0004g0214
a0001c0001t0005g0013
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0025g0204
a0001c0001t0028g0011
a0001c0001t0029g0019
a0002c0002t0002g0042
a0006c0007t0005g0138
a0013c0011t0007g0175
 26 HG00597.hp2
HG00609.hp1
HG01109.hp1
others(23): Show 
HG00597.hp2
HG00609.hp1
HG01109.hp1
HG01192.hp1
HG02258.hp1
HG02280.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp2
HG02809.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG04184.hp1
NA19070.hp1
NA20300.hp1
NA21309.hp1
 intron_variant MODIFIER c.1543+1241dupA
c.1543+1241dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77999907
chrX:77999907 C
C
 CAA
CAA
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.1543+1240_1543+124
others(6): Show 
c.1543+1240_1543+1241dupAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77999907
chrX:77999907 CA
CA
 C
C
 2 a0009c0010t0026g0104
a0011c0015t0005g0127
a0009c0010t0026g0104
a0011c0015t0005g0127
 2 HG03540.hp2
NA18974.hp1
HG03540.hp2
NA18974.hp1
 intron_variant MODIFIER c.1543+1241delA
c.1543+1241delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 77999907
chrX:78000217 C
C
 T
T
 1 a0001c0001t0001g0187
a0001c0001t0001g0187
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.1543+1533C>T
c.1543+1533C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78000217
chrX:78000424 AT
AT
 A
A
 1 a0003c0003t0002g0056
a0003c0003t0002g0056
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.1543+1748delT
c.1543+1748delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78000424
chrX:78000693 C
C
 T
T
 2 a0001c0001t0005g0013
a0001c0001t0010g0012
a0001c0001t0005g0013
a0001c0001t0010g0012
 2 HG02615.hp2
HG02809.hp1
HG02615.hp2
HG02809.hp1
 intron_variant MODIFIER c.1543+2009C>T
c.1543+2009C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78000693
chrX:78000820 A
A
 G
G
 1 a0001c0001t0004g0200
a0001c0001t0004g0200
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.1543+2136A>G
c.1543+2136A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78000820
chrX:78001026 T
T
 A
A
 1 a0001c0001t0007g0004
a0001c0001t0007g0004
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1544-2047T>A
c.1544-2047T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78001026
chrX:78001445 C
C
 CT
CT
 136 a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
others(133): Show 
a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0143
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 137 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(134): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1544-1626dupT
c.1544-1626dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78001445
chrX:78001654 C
C
 CT
CT
 1 a0002c0002t0003g0065
a0002c0002t0003g0065
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.1544-1412dupT
c.1544-1412dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78001654
chrX:78001825 T
T
 TA
TA
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 1 HG02145.hp1
HG02145.hp1
 intron_variant MODIFIER c.1544-1237dupA
c.1544-1237dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78001825
chrX:78001825 TA
TA
 T
T
 2 a0001c0001t0001g0041
a0002c0002t0002g0049
a0001c0001t0001g0041
a0002c0002t0002g0049
 2 NA18951.hp1
NA19055.hp1
NA18951.hp1
NA19055.hp1
 intron_variant MODIFIER c.1544-1237delA
c.1544-1237delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78001825
chrX:78002074 A
A
 AT
AT
 1 a0001c0001t0023g0002
a0001c0001t0023g0002
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.1544-986dupT
c.1544-986dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002074
chrX:78002074 AT
AT
 A
A
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1544-986delT
c.1544-986delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002074
chrX:78002144 A
A
 T
T
 1 a0006c0007t0005g0138
a0006c0007t0005g0138
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1544-929A>T
c.1544-929A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78002144
chrX:78002223 C
C
 T
T
 3 a0001c0001t0008g0121
a0005c0006t0008g0119
a0005c0006t0008g0120
a0001c0001t0008g0121
a0005c0006t0008g0119
a0005c0006t0008g0120
 3 HG02280.hp1
HG02886.hp1
NA19043.hp1
HG02280.hp1
HG02886.hp1
NA19043.hp1
 intron_variant MODIFIER c.1544-850C>T
c.1544-850C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78002223
chrX:78002244 A
A
 AT
AT
 10 a0001c0001t0001g0182
a0001c0001t0005g0224
a0001c0001t0007g0017
others(7): Show 
a0001c0001t0001g0182
a0001c0001t0005g0224
a0001c0001t0007g0017
a0001c0001t0011g0225
a0002c0002t0002g0050
a0002c0002t0003g0117
a0002c0002t0013g0075
a0002c0002t0015g0009
a0008c0009t0003g0078
a0012c0013t0017g0102
 10 HG00735.hp1
HG00735.hp2
HG01081.hp2
others(7): Show 
HG00735.hp1
HG00735.hp2
HG01081.hp2
HG01106.hp1
HG01243.hp1
HG02559.hp1
HG03516.hp1
HG03516.hp2
NA18965.hp1
NA18985.hp1
 intron_variant MODIFIER c.1544-811dupT
c.1544-811dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002244
chrX:78002244 AT
AT
 A
A
 2 a0002c0002t0002g0060
a0002c0002t0002g0070
a0002c0002t0002g0060
a0002c0002t0002g0070
 2 HG03654.hp1
NA18969.hp2
HG03654.hp1
NA18969.hp2
 intron_variant MODIFIER c.1544-811delT
c.1544-811delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002244
chrX:78002262 T
T
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1544-811T>C
c.1544-811T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78002262
chrX:78002737 A
A
 G
G
 1 a0001c0001t0001g0180
a0001c0001t0001g0180
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.1544-336A>G
c.1544-336A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78002737
chrX:78002799 T
T
 TAC
TAC
 27 a0001c0001t0001g0026
a0001c0001t0001g0034
a0001c0001t0001g0091
others(24): Show 
a0001c0001t0001g0026
a0001c0001t0001g0034
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0187
a0001c0001t0001g0205
a0001c0001t0004g0154
a0001c0001t0004g0169
a0001c0001t0004g0192
a0001c0001t0004g0215
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0147
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0002c0002t0003g0038
a0002c0002t0006g0105
a0002c0002t0012g0114
a0005c0006t0008g0119
a0005c0006t0008g0120
a0011c0015t0005g0127
a0014c0017t0004g0189
 27 HG01243.hp1
HG01255.hp1
HG02145.hp1
others(24): Show 
HG01243.hp1
HG01255.hp1
HG02145.hp1
HG02280.hp1
HG02615.hp1
HG02683.hp2
HG02717.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG03017.hp1
HG03453.hp1
HG03490.hp1
HG03540.hp2
NA18906.hp2
NA18954.hp1
NA18982.hp1
NA18987.hp2
NA18988.hp1
NA19043.hp1
NA19063.hp1
NA19067.hp1
NA19068.hp1
NA19075.hp1
NA19076.hp1
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.1544-230_1544-229d
others(4): Show 
c.1544-230_1544-229dupCA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002799 T
T
 TACAC
TACAC
 9 a0001c0001t0001g0100
a0001c0001t0001g0139
a0001c0001t0001g0199
others(6): Show 
a0001c0001t0001g0100
a0001c0001t0001g0139
a0001c0001t0001g0199
a0001c0001t0003g0016
a0001c0001t0005g0010
a0001c0001t0005g0136
a0001c0001t0005g0140
a0002c0002t0003g0115
a0002c0002t0003g0221
 9 HG00558.hp1
HG02602.hp1
HG03041.hp2
others(6): Show 
HG00558.hp1
HG02602.hp1
HG03041.hp2
HG03579.hp1
HG04184.hp1
NA18906.hp1
NA18962.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1544-232_1544-229d
others(6): Show 
c.1544-232_1544-229dupCACA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002799 T
T
 TACACAC
TACACAC
 3 a0001c0001t0003g0015
a0001c0001t0008g0123
a0002c0002t0002g0044
a0001c0001t0003g0015
a0001c0001t0008g0123
a0002c0002t0002g0044
 3 HG02922.hp2
NA19066.hp1
NA20129.hp1
HG02922.hp2
NA19066.hp1
NA20129.hp1
 intron_variant MODIFIER c.1544-234_1544-229d
others(8): Show 
c.1544-234_1544-229dupCACACA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002799 T
T
 TACACACA
others(1): Show 
TACACACAC
 1 a0001c0001t0008g0124
a0001c0001t0008g0124
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.1544-236_1544-229d
others(10): Show 
c.1544-236_1544-229dupCACACACA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002799 TAC
TAC
 T
T
 47 a0001c0001t0001g0041
a0001c0001t0001g0157
a0001c0001t0001g0168
others(44): Show 
a0001c0001t0001g0041
a0001c0001t0001g0157
a0001c0001t0001g0168
a0001c0001t0001g0188
a0001c0001t0001g0196
a0001c0001t0001g0203
a0001c0001t0004g0143
a0001c0001t0004g0166
a0001c0001t0004g0210
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0005g0142
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0228
a0001c0001t0008g0122
a0001c0001t0010g0012
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0014t0005g0146
a0002c0002t0002g0050
a0002c0002t0002g0054
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0063
a0002c0002t0003g0066
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0015g0009
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0135
 47 HG00558.hp2
HG00735.hp1
HG01074.hp1
others(44): Show 
HG00558.hp2
HG00735.hp1
HG01074.hp1
HG01167.hp1
HG01256.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG02015.hp1
HG02258.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02922.hp1
HG02970.hp1
HG03139.hp1
HG03225.hp1
HG03516.hp2
HG04184.hp2
NA18940.hp1
NA18943.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp2
NA18959.hp1
NA18960.hp1
NA18965.hp1
NA18970.hp1
NA18984.hp1
NA18989.hp1
NA19001.hp2
NA19003.hp2
NA19007.hp1
NA19055.hp1
NA19064.hp2
NA19074.hp2
NA20129.hp2
NA20300.hp2
 intron_variant MODIFIER c.1544-230_1544-229d
others(4): Show 
c.1544-230_1544-229delCA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002799 TACAC
TACAC
 T
T
 17 a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0005g0144
others(14): Show 
a0001c0001t0001g0025
a0001c0001t0001g0033
a0001c0001t0005g0144
a0001c0001t0005g0224
a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0082
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0013g0075
a0002c0002t0016g0084
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
 17 HG00735.hp2
HG00738.hp1
HG01081.hp2
others(14): Show 
HG00735.hp2
HG00738.hp1
HG01081.hp2
HG01884.hp1
HG02280.hp2
HG02451.hp2
HG02559.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03492.hp1
HG03516.hp1
HG03927.hp1
HG04204.hp1
NA18522.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.1544-232_1544-229d
others(6): Show 
c.1544-232_1544-229delCACA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002799 TACACAC
TACACAC
 T
T
 3 a0001c0001t0001g0151
a0001c0001t0001g0194
a0004c0004t0009g0131
a0001c0001t0001g0151
a0001c0001t0001g0194
a0004c0004t0009g0131
 3 HG00642.hp1
HG01884.hp2
HG02738.hp1
HG00642.hp1
HG01884.hp2
HG02738.hp1
 intron_variant MODIFIER c.1544-234_1544-229d
others(8): Show 
c.1544-234_1544-229delCACACA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002799 TACACACA
others(1): Show 
TACACACAC
 T
T
 1 a0002c0002t0002g0042
a0002c0002t0002g0042
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.1544-236_1544-229d
others(10): Show 
c.1544-236_1544-229delCACACACA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78002799
chrX:78002918 G
G
 T
T
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.1544-155G>T
c.1544-155G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78002918
chrX:78003001 A
A
 G
G
 1 a0001c0001t0005g0129
a0001c0001t0005g0129
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1544-72A>G
c.1544-72A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 chrX 78003001
chrX:78003028 TA
TA
 T
T
 1 a0002c0002t0012g0114
a0002c0002t0012g0114
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.1544-40delA
c.1544-40delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 5/22 INFO_REALIGN_3_PRIME chrX 78003028
chrX:78003510 A
A
 G
G
 1 a0001c0001t0005g0147
a0001c0001t0005g0147
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1707+274A>G
c.1707+274A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78003510
chrX:78004122 GACAAGTA
others(26): Show 
GACAAGTAAAGATTTCCAGGATGTATTATTTACT
 G
G
 1 a0001c0001t0007g0017
a0001c0001t0007g0017
 1 HG01243.hp1
HG01243.hp1
 intron_variant MODIFIER c.1707+887_1707+919d
others(35): Show 
c.1707+887_1707+919delACAAGTAAAGATTTCCAGGATGTATTAT
TTACT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004122
chrX:78004123 A
A
 G
G
 1 a0002c0002t0003g0028
a0002c0002t0003g0028
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.1707+887A>G
c.1707+887A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004123
chrX:78004144 G
G
 A
A
 1 a0002c0002t0002g0023
a0002c0002t0002g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1707+908G>A
c.1707+908G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004144
chrX:78004232 AC
AC
 A
A
 9 a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
others(6): Show 
a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0006c0007t0005g0138
 9 HG01109.hp1
HG02280.hp2
HG02602.hp1
others(6): Show 
HG01109.hp1
HG02280.hp2
HG02602.hp1
HG02965.hp1
HG03239.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.1707+997delC
c.1707+997delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004232
chrX:78004289 C
C
 G
G
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1707+1053C>G
c.1707+1053C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004289
chrX:78004355 A
A
 G
G
 1 a0002c0002t0003g0085
a0002c0002t0003g0085
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.1707+1119A>G
c.1707+1119A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004355
chrX:78004578 C
C
 T
T
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1707+1342C>T
c.1707+1342C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004578
chrX:78004648 C
C
 T
T
 1 a0001c0001t0007g0004
a0001c0001t0007g0004
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1707+1412C>T
c.1707+1412C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004648
chrX:78004663 A
A
 C
C
 1 a0001c0001t0005g0129
a0001c0001t0005g0129
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.1707+1427A>C
c.1707+1427A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004663
chrX:78004711 C
C
 T
T
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1707+1475C>T
c.1707+1475C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004711
chrX:78004753 T
T
 C
C
 2 a0005c0006t0008g0119
a0005c0006t0008g0120
a0005c0006t0008g0119
a0005c0006t0008g0120
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 intron_variant MODIFIER c.1707+1517T>C
c.1707+1517T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004753
chrX:78004861 C
C
 T
T
 5 a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
others(2): Show 
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0013c0011t0007g0175
 5 HG02559.hp2
HG02895.hp1
HG02897.hp1
others(2): Show 
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.1707+1625C>T
c.1707+1625C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78004861
chrX:78005083 TC
TC
 T
T
 1 a0001c0001t0005g0148
a0001c0001t0005g0148
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.1707+1850delC
c.1707+1850delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005083
chrX:78005309 T
T
 G
G
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1707+2073T>G
c.1707+2073T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005309
chrX:78005321 A
A
 G
G
 2 a0005c0006t0008g0119
a0005c0006t0008g0120
a0005c0006t0008g0119
a0005c0006t0008g0120
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 intron_variant MODIFIER c.1707+2085A>G
c.1707+2085A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005321
chrX:78005343 C
C
 A
A
 2 a0001c0001t0001g0182
a0001c0001t0001g0212
a0001c0001t0001g0182
a0001c0001t0001g0212
 2 HG00280.hp1
HG01106.hp1
HG00280.hp1
HG01106.hp1
 intron_variant MODIFIER c.1707+2107C>A
c.1707+2107C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005343
chrX:78005447 T
T
 G
G
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1707+2211T>G
c.1707+2211T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005447
chrX:78005492 G
G
 A
A
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.1707+2256G>A
c.1707+2256G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005492
chrX:78005519 T
T
 TA
TA
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.1707+2288dupA
c.1707+2288dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005519
chrX:78005556 G
G
 A
A
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.1707+2320G>A
c.1707+2320G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005556
chrX:78005683 C
C
 CA
CA
 77 a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0004g0211
others(74): Show 
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0005g0140
a0001c0001t0005g0148
a0001c0001t0005g0224
a0001c0001t0022g0191
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0056
a0003c0003t0002g0057
a0007c0016t0007g0231
a0008c0009t0003g0078
 78 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(75): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02145.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03516.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
NA18522.hp1
NA18906.hp1
NA18942.hp1
NA18943.hp1
NA18945.hp1
NA18947.hp2
NA18949.hp2
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1707+2470dupA
c.1707+2470dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005683
chrX:78005683 C
C
 CAA
CAA
 4 a0002c0002t0003g0081
a0002c0002t0006g0112
a0002c0002t0015g0009
others(1): Show 
a0002c0002t0003g0081
a0002c0002t0006g0112
a0002c0002t0015g0009
a0003c0003t0002g0061
 4 HG03453.hp2
HG03516.hp2
NA18940.hp1
others(1): Show 
HG03453.hp2
HG03516.hp2
NA18940.hp1
NA18944.hp1
 intron_variant MODIFIER c.1707+2469_1707+247
others(6): Show 
c.1707+2469_1707+2470dupAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005683
chrX:78005683 CA
CA
 C
C
 11 a0001c0001t0001g0034
a0001c0001t0001g0092
a0001c0001t0001g0139
others(8): Show 
a0001c0001t0001g0034
a0001c0001t0001g0092
a0001c0001t0001g0139
a0001c0001t0004g0161
a0001c0001t0004g0166
a0001c0001t0004g0192
a0001c0001t0004g0219
a0001c0001t0005g0013
a0001c0001t0005g0217
a0001c0001t0010g0012
a0001c0005t0001g0159
 11 HG02602.hp1
HG02615.hp2
HG02683.hp2
others(8): Show 
HG02602.hp1
HG02615.hp2
HG02683.hp2
HG02809.hp1
NA18955.hp1
NA18959.hp1
NA18975.hp1
NA18982.hp1
NA18984.hp1
NA19075.hp1
NA21309.hp1
 intron_variant MODIFIER c.1707+2470delA
c.1707+2470delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005683
chrX:78005683 CAAAAAAA
others(7): Show 
CAAAAAAAAAAAAAA
 C
C
 3 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0008g0124
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0008g0124
 3 HG03041.hp2
HG03195.hp2
NA20129.hp1
HG03041.hp2
HG03195.hp2
NA20129.hp1
 intron_variant MODIFIER c.1707+2457_1707+247
others(18): Show 
c.1707+2457_1707+2470delAAAAAAAAAAAAAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005683
chrX:78005700 A
A
 G
G
 1 a0001c0001t0028g0011
a0001c0001t0028g0011
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.1707+2464A>G
c.1707+2464A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005700
chrX:78005703 A
A
 AG
AG
 2 a0002c0002t0002g0223
a0003c0003t0002g0043
a0002c0002t0002g0223
a0003c0003t0002g0043
 2 HG02135.hp1
HG02165.hp1
HG02135.hp1
HG02165.hp1
 intron_variant MODIFIER c.1707+2467_1707+246
others(5): Show 
c.1707+2467_1707+2468insG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005703
chrX:78005707 GA
GA
 G
G
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.1707+2480delA
c.1707+2480delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005707
chrX:78005720 GAAA
GAAA
 G
G
 1 a0001c0001t0001g0181
a0001c0001t0001g0181
 1 HG00140.hp1
HG00140.hp1
 intron_variant MODIFIER c.1707+2489_1707+249
others(7): Show 
c.1707+2489_1707+2491delAAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78005720
chrX:78005747 G
G
 A
A
 1 a0002c0002t0002g0051
a0002c0002t0002g0051
 1 NA18947.hp2
NA18947.hp2
 intron_variant MODIFIER c.1707+2511G>A
c.1707+2511G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005747
chrX:78005832 T
T
 G
G
 136 a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
others(133): Show 
a0001c0001t0001g0139
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0143
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 137 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(134): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18970.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.1707+2596T>G
c.1707+2596T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005832
chrX:78005914 G
G
 A
A
 1 a0001c0001t0010g0141
a0001c0001t0010g0141
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.1707+2678G>A
c.1707+2678G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78005914
chrX:78006026 A
A
 G
G
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.1707+2790A>G
c.1707+2790A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78006026
chrX:78006100 TG
TG
 T
T
 1 a0001c0001t0001g0092
a0001c0001t0001g0092
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1707+2866delG
c.1707+2866delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78006100
chrX:78006133 A
A
 G
G
 9 a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
others(6): Show 
a0001c0001t0001g0139
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0006c0007t0005g0138
 9 HG01109.hp1
HG02280.hp2
HG02602.hp1
others(6): Show 
HG01109.hp1
HG02280.hp2
HG02602.hp1
HG02965.hp1
HG03239.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.1707+2897A>G
c.1707+2897A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78006133
chrX:78006261 A
A
 T
T
 1 a0002c0002t0002g0054
a0002c0002t0002g0054
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.1708-2841A>T
c.1708-2841A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78006261
chrX:78006653 A
A
 G
G
 1 a0001c0001t0010g0020
a0001c0001t0010g0020
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1708-2449A>G
c.1708-2449A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78006653
chrX:78006879 C
C
 T
T
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1708-2223C>T
c.1708-2223C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78006879
chrX:78007031 GT
GT
 G
G
 13 a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
others(10): Show 
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0021
a0001c0001t0010g0012
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0013c0011t0007g0175
 13 HG02559.hp2
HG02572.hp1
HG02615.hp2
others(10): Show 
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02809.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03540.hp1
NA20300.hp1
 intron_variant MODIFIER c.1708-2070delT
c.1708-2070delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78007031
chrX:78007267 T
T
 C
C
 1 a0001c0001t0001g0203
a0001c0001t0001g0203
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.1708-1835T>C
c.1708-1835T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78007267
chrX:78007331 C
C
 CT
CT
 4 a0001c0001t0004g0220
a0002c0002t0002g0042
a0002c0002t0002g0049
others(1): Show 
a0001c0001t0004g0220
a0002c0002t0002g0042
a0002c0002t0002g0049
a0009c0010t0026g0104
 4 HG00609.hp1
NA18949.hp1
NA18951.hp1
others(1): Show 
HG00609.hp1
NA18949.hp1
NA18951.hp1
NA18974.hp1
 intron_variant MODIFIER c.1708-1759dupT
c.1708-1759dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78007331
chrX:78007389 G
G
 A
A
 2 a0002c0002t0002g0223
a0003c0003t0002g0043
a0002c0002t0002g0223
a0003c0003t0002g0043
 2 HG02135.hp1
HG02165.hp1
HG02135.hp1
HG02165.hp1
 intron_variant MODIFIER c.1708-1713G>A
c.1708-1713G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78007389
chrX:78007419 A
A
 G
G
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.1708-1683A>G
c.1708-1683A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78007419
chrX:78007427 A
A
 G
G
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.1708-1675A>G
c.1708-1675A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78007427
chrX:78007805 T
T
 C
C
 1 a0002c0002t0002g0223
a0002c0002t0002g0223
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.1708-1297T>C
c.1708-1297T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78007805
chrX:78008534 A
A
 C
C
 1 a0001c0001t0007g0004
a0001c0001t0007g0004
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1708-568A>C
c.1708-568A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78008534
chrX:78008537 CAGCGGGA
CAGCGGGA
 C
C
 1 a0001c0001t0007g0004
a0001c0001t0007g0004
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.1708-561_1708-555d
others(9): Show 
c.1708-561_1708-555delGGGAAGC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78008537
chrX:78008555 G
G
 A
A
 2 a0005c0006t0008g0119
a0005c0006t0008g0120
a0005c0006t0008g0119
a0005c0006t0008g0120
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 intron_variant MODIFIER c.1708-547G>A
c.1708-547G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78008555
chrX:78008838 C
C
 A
A
 2 a0001c0001t0005g0003
a0001c0001t0023g0002
a0001c0001t0005g0003
a0001c0001t0023g0002
 2 HG02572.hp1
HG02647.hp1
HG02572.hp1
HG02647.hp1
 intron_variant MODIFIER c.1708-264C>A
c.1708-264C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 chrX 78008838
chrX:78009017 C
C
 CA
CA
 14 a0001c0001t0001g0026
a0001c0001t0001g0151
a0001c0001t0004g0152
others(11): Show 
a0001c0001t0001g0026
a0001c0001t0001g0151
a0001c0001t0004g0152
a0001c0001t0004g0214
a0001c0001t0004g0220
a0001c0001t0005g0228
a0001c0001t0029g0019
a0002c0002t0002g0068
a0002c0002t0002g0072
a0002c0002t0002g0195
a0002c0002t0003g0066
a0002c0002t0015g0009
a0003c0003t0002g0061
a0005c0006t0008g0119
 14 HG00597.hp2
HG01496.hp2
HG02071.hp1
others(11): Show 
HG00597.hp2
HG01496.hp2
HG02071.hp1
HG02080.hp1
HG02145.hp1
HG02738.hp1
HG02886.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp1
NA18940.hp1
NA18943.hp1
NA18949.hp1
NA19001.hp2
 intron_variant MODIFIER c.1708-67dupA
c.1708-67dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78009017
chrX:78009017 C
C
 CAA
CAA
 1 a0001c0001t0004g0154
a0001c0001t0004g0154
 1 NA19067.hp1
NA19067.hp1
 intron_variant MODIFIER c.1708-68_1708-67dup
others(2): Show 
c.1708-68_1708-67dupAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 6/22 INFO_REALIGN_3_PRIME chrX 78009017
chrX:78009661 T
T
 C
C
 1 a0005c0006t0008g0119
a0005c0006t0008g0119
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.1869+398T>C
c.1869+398T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78009661
chrX:78009778 C
C
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.1869+515C>T
c.1869+515C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78009778
chrX:78009779 G
G
 A
A
 2 a0001c0001t0001g0025
a0001c0008t0001g0177
a0001c0001t0001g0025
a0001c0008t0001g0177
 2 HG03688.hp1
HG03927.hp1
HG03688.hp1
HG03927.hp1
 intron_variant MODIFIER c.1869+516G>A
c.1869+516G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78009779
chrX:78010083 A
A
 C
C
 79 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(76): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA21309.hp2
 intron_variant MODIFIER c.1869+820A>C
c.1869+820A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010083
chrX:78010342 A
A
 G
G
 5 a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0142
others(2): Show 
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0142
a0001c0001t0005g0145
a0001c0014t0005g0146
 5 HG00558.hp2
HG02015.hp1
NA18948.hp1
others(2): Show 
HG00558.hp2
HG02015.hp1
NA18948.hp1
NA18954.hp1
NA18962.hp1
 intron_variant MODIFIER c.1870-834A>G
c.1870-834A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010342
chrX:78010526 CTGCA
CTGCA
 C
C
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1870-648_1870-645d
others(6): Show 
c.1870-648_1870-645delGCAT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 INFO_REALIGN_3_PRIME chrX 78010526
chrX:78010570 C
C
 CT
CT
 115 a0001c0001t0001g0022
a0001c0001t0001g0026
a0001c0001t0001g0033
others(112): Show 
a0001c0001t0001g0022
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0041
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0151
a0001c0001t0001g0156
a0001c0001t0001g0160
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0190
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0154
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0197
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0227
a0001c0001t0007g0004
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0024g0213
a0001c0001t0027g0198
a0001c0005t0001g0159
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0040
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0059
a0002c0002t0002g0062
a0002c0002t0002g0069
a0002c0002t0002g0074
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0003g0028
a0002c0002t0003g0036
a0002c0002t0003g0039
a0002c0002t0003g0063
a0002c0002t0003g0066
a0002c0002t0003g0081
a0002c0002t0003g0083
a0002c0002t0003g0086
a0002c0002t0003g0222
a0002c0002t0006g0106
a0002c0002t0013g0075
a0002c0002t0015g0009
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0006c0007t0005g0138
a0008c0009t0003g0078
a0009c0010t0026g0104
a0010c0012t0001g0089
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 115 HG00140.hp1
HG00438.hp1
HG00438.hp2
others(112): Show 
HG00140.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00735.hp1
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01261.hp1
HG01496.hp2
HG01884.hp2
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02056.hp1
HG02080.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02698.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02965.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp1
HG03492.hp1
HG03516.hp2
HG03579.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG04204.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18942.hp2
NA18948.hp1
NA18949.hp1
NA18951.hp1
NA18951.hp2
NA18954.hp1
NA18955.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18969.hp1
NA18970.hp1
NA18974.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18995.hp1
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19012.hp1
NA19030.hp1
NA19055.hp1
NA19060.hp1
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19079.hp1
NA19083.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1870-580dupT
c.1870-580dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 INFO_REALIGN_3_PRIME chrX 78010570
chrX:78010570 C
C
 CTT
CTT
 40 a0001c0001t0001g0025
a0001c0001t0001g0034
a0001c0001t0001g0094
others(37): Show 
a0001c0001t0001g0025
a0001c0001t0001g0034
a0001c0001t0001g0094
a0001c0001t0001g0155
a0001c0001t0001g0172
a0001c0001t0001g0182
a0001c0001t0001g0212
a0001c0001t0001g0218
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0193
a0001c0001t0004g0200
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0229
a0001c0001t0005g0003
a0001c0001t0005g0126
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0148
a0001c0001t0005g0224
a0001c0001t0005g0228
a0001c0001t0007g0006
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0008t0001g0177
a0007c0016t0007g0231
a0011c0015t0005g0127
 40 HG00280.hp1
HG00673.hp1
HG01106.hp1
others(37): Show 
HG00280.hp1
HG00673.hp1
HG01106.hp1
HG01109.hp1
HG01243.hp1
HG01358.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02572.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02809.hp2
HG02970.hp1
HG03041.hp1
HG03209.hp1
HG03453.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03688.hp1
HG03927.hp1
HG04184.hp1
HG04199.hp1
HG04228.hp1
NA18947.hp1
NA18949.hp2
NA18954.hp2
NA18959.hp1
NA18975.hp1
NA18990.hp1
NA19000.hp1
NA19001.hp2
NA19011.hp1
NA19030.hp2
NA19064.hp1
NA19089.hp1
NA20300.hp2
 intron_variant MODIFIER c.1870-581_1870-580d
others(4): Show 
c.1870-581_1870-580dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 INFO_REALIGN_3_PRIME chrX 78010570
chrX:78010570 C
C
 CTTT
CTTT
 1 a0001c0001t0004g0174
a0001c0001t0004g0174
 1 NA19001.hp1
NA19001.hp1
 intron_variant MODIFIER c.1870-582_1870-580d
others(5): Show 
c.1870-582_1870-580dupTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 INFO_REALIGN_3_PRIME chrX 78010570
chrX:78010570 CT
CT
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.1870-580delT
c.1870-580delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 INFO_REALIGN_3_PRIME chrX 78010570
chrX:78010570 CTTTTTT
CTTTTTT
 C
C
 1 a0001c0001t0003g0015
a0001c0001t0003g0015
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.1870-585_1870-580d
others(8): Show 
c.1870-585_1870-580delTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 INFO_REALIGN_3_PRIME chrX 78010570
chrX:78010597 G
G
 T
T
 1 a0002c0002t0013g0075
a0002c0002t0013g0075
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.1870-579G>T
c.1870-579G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010597
chrX:78010636 G
G
 A
A
 6 a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
others(3): Show 
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0010g0020
a0011c0015t0005g0127
 6 HG02615.hp1
HG02717.hp1
HG02809.hp2
others(3): Show 
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.1870-540G>A
c.1870-540G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010636
chrX:78010638 G
G
 A
A
 6 a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
others(3): Show 
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0010g0020
a0011c0015t0005g0127
 6 HG02615.hp1
HG02717.hp1
HG02809.hp2
others(3): Show 
HG02615.hp1
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG03540.hp2
NA18906.hp2
 intron_variant MODIFIER c.1870-538G>A
c.1870-538G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010638
chrX:78010701 TC
TC
 T
T
 1 a0002c0002t0012g0114
a0002c0002t0012g0114
 1 NA19063.hp1
NA19063.hp1
 intron_variant MODIFIER c.1870-472delC
c.1870-472delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 INFO_REALIGN_3_PRIME chrX 78010701
chrX:78010710 G
G
 C
C
 1 a0001c0001t0001g0033
a0001c0001t0001g0033
 1 HG03492.hp1
HG03492.hp1
 intron_variant MODIFIER c.1870-466G>C
c.1870-466G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010710
chrX:78010781 G
G
 A
A
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1870-395G>A
c.1870-395G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010781
chrX:78010784 T
T
 G
G
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1870-392T>G
c.1870-392T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010784
chrX:78010791 T
T
 G
G
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1870-385T>G
c.1870-385T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010791
chrX:78010792 A
A
 G
G
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1870-384A>G
c.1870-384A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010792
chrX:78010796 C
C
 G
G
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1870-380C>G
c.1870-380C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010796
chrX:78010812 T
T
 C
C
 4 a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
others(1): Show 
a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
a0002c0002t0003g0058
 4 HG00140.hp1
HG01069.hp1
HG01081.hp1
others(1): Show 
HG00140.hp1
HG01069.hp1
HG01081.hp1
NA20805.hp1
 intron_variant MODIFIER c.1870-364T>C
c.1870-364T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010812
chrX:78010814 T
T
 C
C
 4 a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
others(1): Show 
a0001c0001t0001g0178
a0001c0001t0001g0181
a0001c0001t0001g0183
a0002c0002t0003g0058
 4 HG00140.hp1
HG01069.hp1
HG01081.hp1
others(1): Show 
HG00140.hp1
HG01069.hp1
HG01081.hp1
NA20805.hp1
 intron_variant MODIFIER c.1870-362T>C
c.1870-362T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78010814
chrX:78011033 A
A
 G
G
 1 a0010c0012t0001g0089
a0010c0012t0001g0089
 1 NA19012.hp1
NA19012.hp1
 intron_variant MODIFIER c.1870-143A>G
c.1870-143A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 7/22 chrX 78011033
chrX:78011384 G
G
 A
A
 1 a0001c0001t0005g0224
a0001c0001t0005g0224
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.1947-65G>A
c.1947-65G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 8/22 chrX 78011384
chrX:78011679 G
G
 GTGAAT
GTGAAT
 1 a0001c0001t0005g0148
a0001c0001t0005g0148
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.2172+8_2172+12dupA
others(4): Show 
c.2172+8_2172+12dupAATTG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 INFO_REALIGN_3_PRIME chrX 78011679
chrX:78011713 A
A
 C
C
 1 a0002c0002t0003g0066
a0002c0002t0003g0066
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.2172+39A>C
c.2172+39A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 chrX 78011713
chrX:78011947 A
A
 AT
AT
 1 a0002c0002t0002g0069
a0002c0002t0002g0069
 1 HG02056.hp1
HG02056.hp1
 intron_variant MODIFIER c.2172+286dupT
c.2172+286dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 INFO_REALIGN_3_PRIME chrX 78011947
chrX:78011947 AT
AT
 A
A
 3 a0001c0001t0001g0090
a0001c0001t0001g0101
a0001c0001t0001g0190
a0001c0001t0001g0090
a0001c0001t0001g0101
a0001c0001t0001g0190
 3 HG00544.hp1
HG02735.hp1
NA18612.hp1
HG00544.hp1
HG02735.hp1
NA18612.hp1
 intron_variant MODIFIER c.2172+286delT
c.2172+286delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 INFO_REALIGN_3_PRIME chrX 78011947
chrX:78012176 CTT
CTT
 C
C
 1 a0001c0001t0019g0184
a0001c0001t0019g0184
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.2172+507_2172+508d
others(4): Show 
c.2172+507_2172+508delTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 INFO_REALIGN_3_PRIME chrX 78012176
chrX:78012499 A
A
 G
G
 134 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
others(131): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 135 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(132): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.2173-380A>G
c.2173-380A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 chrX 78012499
chrX:78012590 TA
TA
 T
T
 86 a0001c0001t0001g0092
a0001c0001t0001g0160
a0001c0001t0001g0168
others(83): Show 
a0001c0001t0001g0092
a0001c0001t0001g0160
a0001c0001t0001g0168
a0001c0001t0001g0196
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0167
a0001c0001t0004g0192
a0001c0001t0004g0215
a0001c0001t0005g0228
a0001c0001t0008g0121
a0001c0001t0008g0123
a0001c0001t0011g0226
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 87 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(84): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp2
NA18952.hp1
NA18960.hp1
NA18969.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18982.hp1
NA18987.hp1
NA18987.hp2
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19066.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2173-269delA
c.2173-269delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 INFO_REALIGN_3_PRIME chrX 78012590
chrX:78012590 TAA
TAA
 T
T
 4 a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0003g0031
others(1): Show 
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0003g0031
a0002c0002t0006g0108
 4 HG01515.hp1
HG03710.hp1
NA18953.hp1
others(1): Show 
HG01515.hp1
HG03710.hp1
NA18953.hp1
NA19065.hp1
 intron_variant MODIFIER c.2173-270_2173-269d
others(4): Show 
c.2173-270_2173-269delAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 9/22 INFO_REALIGN_3_PRIME chrX 78012590
chrX:78013892 CTAAGT
CTAAGT
 C
C
 82 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
others(79): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 83 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(80): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2407-766_2407-762d
others(7): Show 
c.2407-766_2407-762delGTTAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 10/22 INFO_REALIGN_3_PRIME chrX 78013892
chrX:78014154 T
T
 A
A
 4 a0001c0001t0001g0022
a0001c0001t0001g0156
a0001c0001t0001g0168
others(1): Show 
a0001c0001t0001g0022
a0001c0001t0001g0156
a0001c0001t0001g0168
a0001c0001t0001g0202
 4 NA18951.hp2
NA18961.hp1
NA18995.hp1
others(1): Show 
NA18951.hp2
NA18961.hp1
NA18995.hp1
NA19003.hp1
 intron_variant MODIFIER c.2407-508T>A
c.2407-508T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 10/22 chrX 78014154
chrX:78014298 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2407-364G>A
c.2407-364G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 10/22 chrX 78014298
chrX:78014405 AAAAT
AAAAT
 A
A
 2 a0001c0001t0005g0013
a0001c0001t0010g0141
a0001c0001t0005g0013
a0001c0001t0010g0141
 2 HG02809.hp1
HG03041.hp1
HG02809.hp1
HG03041.hp1
 intron_variant MODIFIER c.2407-234_2407-231d
others(6): Show 
c.2407-234_2407-231delATAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 10/22 INFO_REALIGN_3_PRIME chrX 78014405
chrX:78014451 C
C
 T
T
 1 a0002c0002t0003g0028
a0002c0002t0003g0028
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.2407-211C>T
c.2407-211C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 10/22 chrX 78014451
chrX:78014478 G
G
 T
T
 79 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
others(76): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19082.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2407-184G>T
c.2407-184G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 10/22 chrX 78014478
chrX:78014773 CCTCTT
CCTCTT
 C
C
 1 a0001c0001t0001g0118
a0001c0001t0001g0118
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.2498+26_2498+30del
others(5): Show 
c.2498+26_2498+30delCTCTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 11/22 INFO_REALIGN_3_PRIME chrX 78014773
chrX:78014874 A
A
 G
G
 1 a0001c0001t0001g0005
a0001c0001t0001g0005
 1 HG02897.hp2
HG02897.hp2
 intron_variant MODIFIER c.2498+121A>G
c.2498+121A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 11/22 chrX 78014874
chrX:78014966 G
G
 A
A
 4 a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0011g0225
others(1): Show 
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 4 HG02165.hp2
NA18965.hp1
NA19001.hp2
others(1): Show 
HG02165.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.2498+213G>A
c.2498+213G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 11/22 chrX 78014966
chrX:78015593 A
A
 G
G
 3 a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0005g0228
a0001c0001t0011g0225
a0001c0001t0011g0226
 3 NA18965.hp1
NA19001.hp2
NA19074.hp2
NA18965.hp1
NA19001.hp2
NA19074.hp2
 intron_variant MODIFIER c.2499-161A>G
c.2499-161A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 11/22 chrX 78015593
chrX:78016735 C
C
 T
T
 1 a0002c0002t0003g0222
a0002c0002t0003g0222
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.2626+854C>T
c.2626+854C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78016735
chrX:78017124 TC
TC
 T
T
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.2626+1246delC
c.2626+1246delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017124
chrX:78017228 AC
AC
 A
A
 1 a0001c0001t0005g0137
a0001c0001t0005g0137
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.2626+1349delC
c.2626+1349delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017228
chrX:78017338 A
A
 C
C
 1 a0002c0002t0002g0023
a0002c0002t0002g0023
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.2626+1457A>C
c.2626+1457A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78017338
chrX:78017497 T
T
 C
C
 1 a0002c0002t0003g0065
a0002c0002t0003g0065
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.2626+1616T>C
c.2626+1616T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78017497
chrX:78017746 T
T
 G
G
 1 a0002c0002t0002g0071
a0002c0002t0002g0071
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.2626+1865T>G
c.2626+1865T>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78017746
chrX:78017765 C
C
 CT
CT
 33 a0001c0001t0001g0026
a0001c0001t0001g0041
a0001c0001t0001g0052
others(30): Show 
a0001c0001t0001g0026
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0155
a0001c0001t0001g0182
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0165
a0001c0001t0004g0192
a0001c0001t0004g0208
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0013
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0140
a0001c0001t0005g0144
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0007g0018
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0024g0213
a0004c0004t0009g0131
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0007c0016t0007g0231
 33 HG00544.hp1
HG01106.hp1
HG01167.hp1
others(30): Show 
HG00544.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG01952.hp1
HG02027.hp1
HG02080.hp2
HG02145.hp1
HG02165.hp2
HG02615.hp1
HG02615.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG03453.hp1
HG03516.hp1
HG03831.hp1
HG04115.hp1
HG04184.hp1
HG04204.hp1
NA18906.hp2
NA18947.hp1
NA18949.hp1
NA18982.hp1
NA18990.hp1
NA19030.hp2
NA19055.hp1
NA19064.hp1
NA19067.hp1
NA19083.hp1
NA20129.hp2
 intron_variant MODIFIER c.2626+1913dupT
c.2626+1913dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017765 C
C
 CTT
CTT
 6 a0001c0001t0004g0027
a0001c0001t0005g0003
a0001c0001t0005g0148
others(3): Show 
a0001c0001t0004g0027
a0001c0001t0005g0003
a0001c0001t0005g0148
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0023g0002
 6 HG02572.hp1
HG02647.hp1
NA18949.hp2
others(3): Show 
HG02572.hp1
HG02647.hp1
NA18949.hp2
NA18965.hp1
NA19074.hp2
NA19091.hp1
 intron_variant MODIFIER c.2626+1912_2626+191
others(6): Show 
c.2626+1912_2626+1913dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017765 C
C
 CTTT
CTTT
 1 a0001c0001t0005g0228
a0001c0001t0005g0228
 1 NA19001.hp2
NA19001.hp2
 intron_variant MODIFIER c.2626+1911_2626+191
others(7): Show 
c.2626+1911_2626+1913dupTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017765 CT
CT
 C
C
 66 a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0170
others(63): Show 
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0170
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0166
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0002c0002t0002g0023
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0070
a0002c0002t0002g0072
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0085
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0014g0073
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0008c0009t0003g0078
a0013c0011t0007g0175
 67 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(64): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00609.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01255.hp1
HG01258.hp1
HG01496.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02683.hp1
HG02698.hp1
HG02895.hp1
HG02897.hp1
HG02970.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03209.hp1
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18959.hp1
NA18969.hp1
NA18969.hp2
NA18975.hp2
NA18989.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19030.hp1
NA19056.hp1
NA19058.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2626+1913delT
c.2626+1913delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017765 CTT
CTT
 C
C
 2 a0002c0002t0002g0037
a0002c0002t0003g0083
a0002c0002t0002g0037
a0002c0002t0003g0083
 2 HG00621.hp1
HG02922.hp1
HG00621.hp1
HG02922.hp1
 intron_variant MODIFIER c.2626+1912_2626+191
others(6): Show 
c.2626+1912_2626+1913delTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017765 CTTTT
CTTTT
 C
C
 1 a0002c0002t0002g0071
a0002c0002t0002g0071
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.2626+1910_2626+191
others(8): Show 
c.2626+1910_2626+1913delTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017765 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 4 a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
others(1): Show 
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
 4 HG01074.hp1
HG01433.hp1
HG01515.hp1
others(1): Show 
HG01074.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.2626+1904_2626+191
others(14): Show 
c.2626+1904_2626+1913delTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017765 CTTTTTTT
others(9): Show 
CTTTTTTTTTTTTTTTT
 C
C
 3 a0001c0001t0005g0126
a0001c0001t0020g0014
a0011c0015t0005g0127
a0001c0001t0005g0126
a0001c0001t0020g0014
a0011c0015t0005g0127
 3 HG02717.hp1
HG03225.hp1
HG03540.hp2
HG02717.hp1
HG03225.hp1
HG03540.hp2
 intron_variant MODIFIER c.2626+1898_2626+191
others(20): Show 
c.2626+1898_2626+1913delTTTTTTTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78017765
chrX:78017768 T
T
 A
A
 1 a0002c0002t0003g0028
a0002c0002t0003g0028
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.2626+1887T>A
c.2626+1887T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78017768
chrX:78018008 C
C
 A
A
 1 a0002c0002t0002g0053
a0002c0002t0002g0053
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.2626+2127C>A
c.2626+2127C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78018008
chrX:78018071 C
C
 T
T
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2627-2173C>T
c.2627-2173C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78018071
chrX:78018391 C
C
 A
A
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.2627-1853C>A
c.2627-1853C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78018391
chrX:78018453 G
G
 A
A
 2 a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0017
a0001c0001t0007g0018
 2 HG01243.hp1
HG03453.hp1
HG01243.hp1
HG03453.hp1
 intron_variant MODIFIER c.2627-1791G>A
c.2627-1791G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78018453
chrX:78018886 C
C
 T
T
 1 a0001c0001t0001g0164
a0001c0001t0001g0164
 1 NA19065.hp2
NA19065.hp2
 intron_variant MODIFIER c.2627-1358C>T
c.2627-1358C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78018886
chrX:78018891 AG
AG
 A
A
 82 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
others(79): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 83 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(80): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2627-1349delG
c.2627-1349delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78018891
chrX:78019085 G
G
 A
A
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2627-1159G>A
c.2627-1159G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78019085
chrX:78019256 C
C
 T
T
 1 a0002c0002t0006g0106
a0002c0002t0006g0106
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2627-988C>T
c.2627-988C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78019256
chrX:78019362 C
C
 A
A
 82 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
others(79): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0020g0014
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 83 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(80): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2627-882C>A
c.2627-882C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78019362
chrX:78019589 TC
TC
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2627-652delC
c.2627-652delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78019589
chrX:78019661 G
G
 GT
GT
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2627-579dupT
c.2627-579dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78019661
chrX:78019814 T
T
 TG
TG
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2627-430_2627-429i
others(3): Show 
c.2627-430_2627-429insG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78019814
chrX:78019826 G
G
 A
A
 1 a0002c0002t0002g0037
a0002c0002t0002g0037
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.2627-418G>A
c.2627-418G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78019826
chrX:78019877 T
T
 TG
TG
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2627-365dupG
c.2627-365dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78019877
chrX:78019939 G
G
 GA
GA
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2627-301dupA
c.2627-301dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 INFO_REALIGN_3_PRIME chrX 78019939
chrX:78020168 A
A
 C
C
 1 a0002c0002t0006g0106
a0002c0002t0006g0106
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.2627-76A>C
c.2627-76A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 12/22 chrX 78020168
chrX:78020508 T
T
 TG
TG
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2781+112dupG
c.2781+112dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/22 INFO_REALIGN_3_PRIME chrX 78020508
chrX:78020539 G
G
 A
A
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2781+141G>A
c.2781+141G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/22 chrX 78020539
chrX:78020685 TA
TA
 T
T
 1 a0002c0002t0013g0075
a0002c0002t0013g0075
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.2782-253delA
c.2782-253delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/22 INFO_REALIGN_3_PRIME chrX 78020685
chrX:78020693 T
T
 A
A
 1 a0001c0001t0020g0014
a0001c0001t0020g0014
 1 HG03225.hp1
HG03225.hp1
 intron_variant MODIFIER c.2782-252T>A
c.2782-252T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/22 chrX 78020693
chrX:78020732 G
G
 GA
GA
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2782-212dupA
c.2782-212dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/22 INFO_REALIGN_3_PRIME chrX 78020732
chrX:78020916 C
C
 A
A
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2782-29C>A
c.2782-29C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/22 chrX 78020916
chrX:78020919 A
A
 C
C
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.2782-26A>C
c.2782-26A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 13/22 chrX 78020919
chrX:78021100 C
C
 T
T
 1 a0002c0002t0006g0111
a0002c0002t0006g0111
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.2916+21C>T
c.2916+21C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78021100
chrX:78021177 CT
CT
 C
C
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+101delT
c.2916+101delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78021177
chrX:78021193 TG
TG
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+117delG
c.2916+117delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78021193
chrX:78021771 A
A
 G
G
 1 a0001c0001t0001g0155
a0001c0001t0001g0155
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.2916+692A>G
c.2916+692A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78021771
chrX:78021838 G
G
 C
C
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2916+759G>C
c.2916+759G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78021838
chrX:78021856 G
G
 GT
GT
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+779dupT
c.2916+779dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78021856
chrX:78021867 G
G
 A
A
 1 a0001c0001t0007g0021
a0001c0001t0007g0021
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.2916+788G>A
c.2916+788G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78021867
chrX:78021927 A
A
 AT
AT
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+849dupT
c.2916+849dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78021927
chrX:78021959 T
T
 TG
TG
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+884dupG
c.2916+884dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78021959
chrX:78022160 C
C
 CT
CT
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+1085dupT
c.2916+1085dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022160
chrX:78022167 T
T
 TG
TG
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+1090dupG
c.2916+1090dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022167
chrX:78022288 A
A
 G
G
 3 a0001c0001t0007g0021
a0001c0001t0020g0014
a0001c0001t0028g0011
a0001c0001t0007g0021
a0001c0001t0020g0014
a0001c0001t0028g0011
 3 HG02970.hp1
HG03225.hp1
NA20300.hp1
HG02970.hp1
HG03225.hp1
NA20300.hp1
 intron_variant MODIFIER c.2916+1209A>G
c.2916+1209A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78022288
chrX:78022337 T
T
 TA
TA
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+1262dupA
c.2916+1262dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022337
chrX:78022487 A
A
 ATGTT
ATGTT
 4 a0001c0001t0003g0016
a0001c0001t0005g0137
a0002c0002t0002g0050
others(1): Show 
a0001c0001t0003g0016
a0001c0001t0005g0137
a0002c0002t0002g0050
a0002c0002t0002g0103
 4 HG00735.hp1
HG01109.hp1
HG02683.hp1
others(1): Show 
HG00735.hp1
HG01109.hp1
HG02683.hp1
HG03041.hp2
 intron_variant MODIFIER c.2916+1426_2916+142
others(8): Show 
c.2916+1426_2916+1429dupGTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022487
chrX:78022487 A
A
 ATGTTTGT
others(1): Show 
ATGTTTGTT
 4 a0001c0001t0003g0015
a0002c0002t0002g0042
a0002c0002t0012g0114
others(1): Show 
a0001c0001t0003g0015
a0002c0002t0002g0042
a0002c0002t0012g0114
a0002c0002t0018g0076
 4 HG00544.hp2
HG00609.hp1
NA19063.hp1
others(1): Show 
HG00544.hp2
HG00609.hp1
NA19063.hp1
NA20129.hp1
 intron_variant MODIFIER c.2916+1422_2916+142
others(12): Show 
c.2916+1422_2916+1429dupGTTTGTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022487
chrX:78022501 G
G
 GTTTA
GTTTA
 12 a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
others(9): Show 
a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0016g0084
a0008c0009t0003g0078
 12 HG00735.hp2
HG00738.hp1
HG01884.hp1
others(9): Show 
HG00735.hp2
HG00738.hp1
HG01884.hp1
HG02559.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03453.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.2916+1425_2916+142
others(8): Show 
c.2916+1425_2916+1426insATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022501
chrX:78022501 G
G
 GTTTATTT
others(1): Show 
GTTTATTTA
 1 a0002c0002t0003g0082
a0002c0002t0003g0082
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2916+1425_2916+142
others(12): Show 
c.2916+1425_2916+1426insATTTATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022501
chrX:78022505 G
G
 A
A
 15 a0001c0001t0004g0174
a0001c0001t0005g0224
a0002c0002t0003g0024
others(12): Show 
a0001c0001t0004g0174
a0001c0001t0005g0224
a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0016g0084
a0008c0009t0003g0078
 15 HG00735.hp2
HG00738.hp1
HG01884.hp1
others(12): Show 
HG00735.hp2
HG00738.hp1
HG01884.hp1
HG02451.hp2
HG02559.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03453.hp2
HG03516.hp1
NA18522.hp1
NA19001.hp1
NA19030.hp1
 intron_variant MODIFIER c.2916+1426G>A
c.2916+1426G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78022505
chrX:78022505 G
G
 GTTTA
GTTTA
 143 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(140): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0018
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0014t0005g0146
a0002c0002t0003g0115
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 143 HG00140.hp1
HG00280.hp1
HG00544.hp1
others(140): Show 
HG00140.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00733.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp1
HG01517.hp1
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG03017.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19083.hp1
NA19088.hp1
NA19091.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2916+1453_2916+145
others(8): Show 
c.2916+1453_2916+1456dupTATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022505
chrX:78022505 G
G
 GTTTATTT
others(1): Show 
GTTTATTTA
 3 a0001c0001t0001g0094
a0001c0001t0001g0172
a0001c0008t0001g0177
a0001c0001t0001g0094
a0001c0001t0001g0172
a0001c0008t0001g0177
 3 HG00673.hp1
HG03688.hp1
NA19089.hp1
HG00673.hp1
HG03688.hp1
NA19089.hp1
 intron_variant MODIFIER c.2916+1449_2916+145
others(12): Show 
c.2916+1449_2916+1456dupTATTTATT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022505
chrX:78022505 G
G
 GTTTGTTT
others(1): Show 
GTTTGTTTA
 50 a0001c0001t0001g0218
a0001c0001t0007g0017
a0002c0002t0002g0023
others(47): Show 
a0001c0001t0001g0218
a0001c0001t0007g0017
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0074
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0028
a0002c0002t0003g0035
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0003c0003t0002g0043
a0009c0010t0026g0104
 51 HG00438.hp1
HG00438.hp2
HG00597.hp1
others(48): Show 
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00621.hp1
HG00733.hp2
HG01069.hp1
HG01081.hp2
HG01243.hp1
HG01496.hp2
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02486.hp1
HG03239.hp1
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
HG04199.hp1
NA18906.hp1
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18994.hp1
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19062.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
 intron_variant MODIFIER c.2916+1429_2916+143
others(12): Show 
c.2916+1429_2916+1430insGTTTATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022505
chrX:78022505 G
G
 GTTTGTTT
others(5): Show 
GTTTGTTTATTTA
 7 a0002c0002t0002g0072
a0002c0002t0002g0077
a0002c0002t0003g0029
others(4): Show 
a0002c0002t0002g0072
a0002c0002t0002g0077
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0038
 7 HG01074.hp1
HG01255.hp1
HG01258.hp1
others(4): Show 
HG01074.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
NA18943.hp1
 intron_variant MODIFIER c.2916+1429_2916+143
others(16): Show 
c.2916+1429_2916+1430insGTTTATTTATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022505
chrX:78022563 G
G
 A
A
 2 a0001c0001t0004g0153
a0001c0001t0004g0219
a0001c0001t0004g0153
a0001c0001t0004g0219
 2 NA18955.hp1
NA18990.hp1
NA18955.hp1
NA18990.hp1
 intron_variant MODIFIER c.2916+1484G>A
c.2916+1484G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78022563
chrX:78022582 A
A
 G
G
 2 a0005c0006t0008g0119
a0005c0006t0008g0120
a0005c0006t0008g0119
a0005c0006t0008g0120
 2 HG02280.hp1
HG02886.hp1
HG02280.hp1
HG02886.hp1
 intron_variant MODIFIER c.2916+1503A>G
c.2916+1503A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78022582
chrX:78022635 A
A
 AGCCTCCT
others(8): Show 
AGCCTCCTGAGTAGCG
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+1558_2916+157
others(19): Show 
c.2916+1558_2916+1572dupCCTCCTGAGTAGCGG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022635
chrX:78022649 C
C
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19056.hp1
NA19056.hp1
 intron_variant MODIFIER c.2916+1570C>T
c.2916+1570C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78022649
chrX:78022679 G
G
 A
A
 5 a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
others(2): Show 
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0013c0011t0007g0175
 5 HG02559.hp2
HG02895.hp1
HG02897.hp1
others(2): Show 
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG03209.hp1
HG03471.hp1
 intron_variant MODIFIER c.2916+1600G>A
c.2916+1600G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78022679
chrX:78022898 GA
GA
 G
G
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+1821delA
c.2916+1821delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78022898
chrX:78023203 G
G
 C
C
 1 a0001c0001t0005g0136
a0001c0001t0005g0136
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.2916+2124G>C
c.2916+2124G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78023203
chrX:78023322 T
T
 TG
TG
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+2246dupG
c.2916+2246dupG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78023322
chrX:78023474 AT
AT
 A
A
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2916+2402delT
c.2916+2402delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78023474
chrX:78023508 AG
AG
 A
A
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+2433delG
c.2916+2433delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78023508
chrX:78023577 G
G
 GT
GT
 1 a0001c0001t0024g0213
a0001c0001t0024g0213
 1 NA19083.hp1
NA19083.hp1
 intron_variant MODIFIER c.2916+2507dupT
c.2916+2507dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78023577
chrX:78023732 TC
TC
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+2656delC
c.2916+2656delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78023732
chrX:78024181 T
T
 C
C
 9 a0001c0001t0001g0170
a0001c0001t0001g0179
a0001c0001t0004g0027
others(6): Show 
a0001c0001t0001g0170
a0001c0001t0001g0179
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0167
a0001c0001t0004g0174
a0001c0001t0004g0220
a0001c0001t0004g0229
 9 HG02071.hp1
NA18949.hp1
NA18970.hp1
others(6): Show 
HG02071.hp1
NA18949.hp1
NA18970.hp1
NA19001.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19074.hp1
NA19091.hp1
 intron_variant MODIFIER c.2916+3102T>C
c.2916+3102T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78024181
chrX:78024400 G
G
 GGTTA
GGTTA
 6 a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
others(3): Show 
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0005c0006t0008g0119
a0005c0006t0008g0120
 6 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.2916+3323_2916+332
others(8): Show 
c.2916+3323_2916+3326dupTTAG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78024400
chrX:78024590 G
G
 A
A
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2916+3511G>A
c.2916+3511G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78024590
chrX:78024602 TC
TC
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+3526delC
c.2916+3526delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78024602
chrX:78024674 TG
TG
 T
T
 1 a0001c0001t0004g0211
a0001c0001t0004g0211
 1 HG01358.hp1
HG01358.hp1
 intron_variant MODIFIER c.2916+3600delG
c.2916+3600delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78024674
chrX:78024679 GA
GA
 G
G
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+3604delA
c.2916+3604delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78024679
chrX:78024758 GA
GA
 G
G
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+3682delA
c.2916+3682delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78024758
chrX:78024973 TA
TA
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2916+3898delA
c.2916+3898delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78024973
chrX:78025082 C
C
 T
T
 1 a0001c0001t0004g0208
a0001c0001t0004g0208
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.2916+4003C>T
c.2916+4003C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78025082
chrX:78025147 G
G
 A
A
 1 a0001c0001t0004g0193
a0001c0001t0004g0193
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.2916+4068G>A
c.2916+4068G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78025147
chrX:78025193 A
A
 G
G
 2 a0001c0001t0004g0165
a0001c0001t0004g0197
a0001c0001t0004g0165
a0001c0001t0004g0197
 2 NA18947.hp1
NA18977.hp1
NA18947.hp1
NA18977.hp1
 intron_variant MODIFIER c.2917-4057A>G
c.2917-4057A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78025193
chrX:78025225 G
G
 GA
GA
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-4017dupA
c.2917-4017dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78025225
chrX:78025530 C
C
 CTA
CTA
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-3720_2917-371
others(6): Show 
c.2917-3720_2917-3719insTA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78025530
chrX:78025532 A
A
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-3718A>T
c.2917-3718A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78025532
chrX:78025606 G
G
 A
A
 1 a0002c0002t0003g0028
a0002c0002t0003g0028
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.2917-3644G>A
c.2917-3644G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78025606
chrX:78025773 GC
GC
 G
G
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-3475delC
c.2917-3475delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78025773
chrX:78025871 C
C
 T
T
 2 a0001c0001t0005g0128
a0001c0001t0005g0130
a0001c0001t0005g0128
a0001c0001t0005g0130
 2 HG02615.hp1
HG02886.hp2
HG02615.hp1
HG02886.hp2
 intron_variant MODIFIER c.2917-3379C>T
c.2917-3379C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78025871
chrX:78026089 A
A
 G
G
 1 a0001c0001t0005g0010
a0001c0001t0005g0010
 1 NA18962.hp1
NA18962.hp1
 intron_variant MODIFIER c.2917-3161A>G
c.2917-3161A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78026089
chrX:78026349 CA
CA
 C
C
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-2897delA
c.2917-2897delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78026349
chrX:78026455 CA
CA
 C
C
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-2790delA
c.2917-2790delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78026455
chrX:78026708 TA
TA
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-2536delA
c.2917-2536delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78026708
chrX:78026889 C
C
 T
T
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.2917-2361C>T
c.2917-2361C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78026889
chrX:78026938 TG
TG
 T
T
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-2309delG
c.2917-2309delG
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78026938
chrX:78027048 A
A
 G
G
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.2917-2202A>G
c.2917-2202A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78027048
chrX:78027062 AT
AT
 A
A
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-2186delT
c.2917-2186delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027062
chrX:78027150 C
C
 CA
CA
 6 a0001c0001t0001g0118
a0001c0001t0004g0165
a0001c0001t0005g0129
others(3): Show 
a0001c0001t0001g0118
a0001c0001t0004g0165
a0001c0001t0005g0129
a0001c0001t0005g0148
a0001c0001t0007g0017
a0001c0001t0007g0018
 6 HG01243.hp1
HG03453.hp1
HG04115.hp1
others(3): Show 
HG01243.hp1
HG03453.hp1
HG04115.hp1
NA18906.hp2
NA18947.hp1
NA18949.hp2
 intron_variant MODIFIER c.2917-2084dupA
c.2917-2084dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027150
chrX:78027150 CA
CA
 C
C
 2 a0001c0001t0001g0157
a0002c0002t0006g0108
a0001c0001t0001g0157
a0002c0002t0006g0108
 2 HG01496.hp1
NA18953.hp1
HG01496.hp1
NA18953.hp1
 intron_variant MODIFIER c.2917-2084delA
c.2917-2084delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027150
chrX:78027152 AAAAAAAA
others(10): Show 
AAAAAAAAAAAAAAATCT
 A
A
 1 a0013c0011t0007g0175
a0013c0011t0007g0175
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.2917-2097_2917-208
others(21): Show 
c.2917-2097_2917-2081delAAAAAAAAAAAAAATCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78027152
chrX:78027992 G
G
 A
A
 13 a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
others(10): Show 
a0002c0002t0003g0024
a0002c0002t0003g0036
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0117
a0002c0002t0016g0084
a0008c0009t0003g0078
 13 HG00735.hp2
HG00738.hp1
HG01884.hp1
others(10): Show 
HG00735.hp2
HG00738.hp1
HG01884.hp1
HG02451.hp2
HG02559.hp1
HG02922.hp1
HG02970.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03453.hp2
NA18522.hp1
NA19030.hp1
 intron_variant MODIFIER c.2917-1258G>A
c.2917-1258G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78027992
chrX:78027993 G
G
 GTATT
GTATT
 5 a0001c0001t0001g0034
a0001c0001t0008g0124
a0002c0002t0003g0117
others(2): Show 
a0001c0001t0001g0034
a0001c0001t0008g0124
a0002c0002t0003g0117
a0003c0003t0002g0061
a0004c0004t0009g0132
 5 HG02451.hp1
HG02559.hp1
HG02683.hp2
others(2): Show 
HG02451.hp1
HG02559.hp1
HG02683.hp2
HG03195.hp2
NA18940.hp1
 intron_variant MODIFIER c.2917-1215_2917-121
others(8): Show 
c.2917-1215_2917-1212dupATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027993
chrX:78027993 GTATT
GTATT
 G
G
 49 a0001c0001t0001g0155
a0001c0001t0001g0170
a0001c0001t0001g0179
others(46): Show 
a0001c0001t0001g0155
a0001c0001t0001g0170
a0001c0001t0001g0179
a0001c0001t0001g0212
a0001c0001t0003g0015
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0007g0007
a0001c0001t0020g0014
a0002c0002t0002g0048
a0002c0002t0002g0050
a0002c0002t0002g0067
a0002c0002t0003g0039
a0002c0002t0006g0106
a0002c0002t0013g0075
a0002c0002t0015g0009
a0006c0007t0005g0138
 49 HG00280.hp1
HG00438.hp1
HG00438.hp2
others(46): Show 
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00597.hp2
HG00735.hp1
HG01081.hp2
HG01109.hp1
HG01169.hp1
HG01261.hp1
HG01358.hp1
HG01952.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02273.hp1
HG02280.hp2
HG02615.hp1
HG02698.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG04184.hp1
NA18947.hp1
NA18949.hp1
NA18949.hp2
NA18955.hp1
NA18959.hp1
NA18970.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA19000.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19065.hp1
NA19067.hp1
NA19074.hp1
NA19091.hp1
NA20129.hp1
NA21309.hp1
 intron_variant MODIFIER c.2917-1215_2917-121
others(8): Show 
c.2917-1215_2917-1212delATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027993
chrX:78027993 GTATTTAT
others(1): Show 
GTATTTATT
 G
G
 2 a0001c0001t0004g0210
a0002c0002t0002g0042
a0001c0001t0004g0210
a0002c0002t0002g0042
 2 HG00609.hp1
NA20300.hp2
HG00609.hp1
NA20300.hp2
 intron_variant MODIFIER c.2917-1219_2917-121
others(12): Show 
c.2917-1219_2917-1212delATTTATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027993
chrX:78027993 GTATTTAT
others(5): Show 
GTATTTATTTATT
 G
G
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.2917-1223_2917-121
others(16): Show 
c.2917-1223_2917-1212delATTTATTTATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027993
chrX:78027993 GTATTTAT
others(9): Show 
GTATTTATTTATTTATT
 G
G
 1 a0014c0017t0004g0189
a0014c0017t0004g0189
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.2917-1227_2917-121
others(20): Show 
c.2917-1227_2917-1212delATTTATTTATTTATTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78027993
chrX:78028049 G
G
 GT
GT
 1 a0002c0002t0002g0049
a0002c0002t0002g0049
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.2917-1200dupT
c.2917-1200dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78028049
chrX:78028189 A
A
 AT
AT
 4 a0001c0001t0004g0153
a0001c0001t0004g0219
a0001c0001t0004g0230
others(1): Show 
a0001c0001t0004g0153
a0001c0001t0004g0219
a0001c0001t0004g0230
a0002c0002t0006g0111
 4 HG03831.hp1
NA18955.hp1
NA18990.hp1
others(1): Show 
HG03831.hp1
NA18955.hp1
NA18990.hp1
NA18994.hp1
 intron_variant MODIFIER c.2917-1045dupT
c.2917-1045dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78028189
chrX:78028189 AT
AT
 A
A
 1 a0001c0001t0004g0215
a0001c0001t0004g0215
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.2917-1045delT
c.2917-1045delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 INFO_REALIGN_3_PRIME chrX 78028189
chrX:78028511 A
A
 T
T
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2917-739A>T
c.2917-739A>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78028511
chrX:78028537 C
C
 A
A
 1 a0001c0001t0001g0182
a0001c0001t0001g0182
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.2917-713C>A
c.2917-713C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 14/22 chrX 78028537
chrX:78029649 T
T
 A
A
 2 a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0017
a0001c0001t0007g0018
 2 HG01243.hp1
HG03453.hp1
HG01243.hp1
HG03453.hp1
 intron_variant MODIFIER c.3111+205T>A
c.3111+205T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 15/22 chrX 78029649
chrX:78029710 G
G
 A
A
 2 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0015
a0001c0001t0003g0016
 2 HG03041.hp2
NA20129.hp1
HG03041.hp2
NA20129.hp1
 intron_variant MODIFIER c.3111+266G>A
c.3111+266G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 15/22 chrX 78029710
chrX:78030154 A
A
 G
G
 2 a0001c0001t0005g0137
a0006c0007t0005g0138
a0001c0001t0005g0137
a0006c0007t0005g0138
 2 HG01109.hp1
HG02280.hp2
HG01109.hp1
HG02280.hp2
 intron_variant MODIFIER c.3111+710A>G
c.3111+710A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 15/22 chrX 78030154
chrX:78030163 C
C
 T
T
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.3111+719C>T
c.3111+719C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 15/22 chrX 78030163
chrX:78030421 C
C
 CA
CA
 5 a0001c0001t0001g0026
a0001c0001t0001g0151
a0001c0001t0001g0162
others(2): Show 
a0001c0001t0001g0026
a0001c0001t0001g0151
a0001c0001t0001g0162
a0001c0001t0001g0173
a0001c0001t0001g0185
 5 HG00733.hp1
HG01517.hp1
HG02145.hp1
others(2): Show 
HG00733.hp1
HG01517.hp1
HG02145.hp1
HG02738.hp1
NA20752.hp1
 intron_variant MODIFIER c.3112-964dupA
c.3112-964dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 15/22 INFO_REALIGN_3_PRIME chrX 78030421
chrX:78030694 C
C
 CT
CT
 12 a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
others(9): Show 
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0007g0017
a0001c0001t0007g0018
a0002c0002t0006g0108
a0006c0007t0005g0138
a0014c0017t0004g0189
 12 HG01109.hp1
HG01243.hp1
HG02280.hp2
others(9): Show 
HG01109.hp1
HG01243.hp1
HG02280.hp2
HG02965.hp1
HG03239.hp2
HG03453.hp1
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA18953.hp1
NA20905.hp1
NA21309.hp1
 intron_variant MODIFIER c.3112-691dupT
c.3112-691dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 15/22 INFO_REALIGN_3_PRIME chrX 78030694
chrX:78030694 CT
CT
 C
C
 1 a0001c0001t0004g0215
a0001c0001t0004g0215
 1 NA18987.hp2
NA18987.hp2
 intron_variant MODIFIER c.3112-691delT
c.3112-691delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 15/22 INFO_REALIGN_3_PRIME chrX 78030694
chrX:78031902 G
G
 GC
GC
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.3294+325dupC
c.3294+325dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/22 INFO_REALIGN_3_PRIME chrX 78031902
chrX:78032187 C
C
 G
G
 2 a0002c0002t0003g0035
a0002c0002t0015g0009
a0002c0002t0003g0035
a0002c0002t0015g0009
 2 HG02486.hp1
HG03516.hp2
HG02486.hp1
HG03516.hp2
 intron_variant MODIFIER c.3294+605C>G
c.3294+605C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/22 chrX 78032187
chrX:78032489 C
C
 T
T
 3 a0002c0002t0003g0082
a0002c0002t0003g0085
a0002c0002t0016g0084
a0002c0002t0003g0082
a0002c0002t0003g0085
a0002c0002t0016g0084
 3 HG01884.hp1
HG02451.hp2
HG03139.hp1
HG01884.hp1
HG02451.hp2
HG03139.hp1
 intron_variant MODIFIER c.3294+907C>T
c.3294+907C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/22 chrX 78032489
chrX:78032596 A
A
 G
G
 1 a0001c0001t0004g0027
a0001c0001t0004g0027
 1 NA19091.hp1
NA19091.hp1
 intron_variant MODIFIER c.3295-1009A>G
c.3295-1009A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/22 chrX 78032596
chrX:78032676 A
A
 G
G
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.3295-929A>G
c.3295-929A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/22 chrX 78032676
chrX:78033217 A
A
 G
G
 5 a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
others(2): Show 
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
 5 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(2): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02451.hp1
NA20129.hp2
 intron_variant MODIFIER c.3295-388A>G
c.3295-388A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/22 chrX 78033217
chrX:78033296 C
C
 T
T
 1 a0001c0001t0001g0201
a0001c0001t0001g0201
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.3295-309C>T
c.3295-309C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 16/22 chrX 78033296
chrX:78034681 C
C
 A
A
 1 a0002c0002t0002g0054
a0002c0002t0002g0054
 1 NA19007.hp1
NA19007.hp1
 intron_variant MODIFIER c.3511+860C>A
c.3511+860C>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78034681
chrX:78034746 C
C
 CT
CT
 2 a0001c0001t0001g0094
a0002c0002t0015g0009
a0001c0001t0001g0094
a0002c0002t0015g0009
 2 HG00673.hp1
HG03516.hp2
HG00673.hp1
HG03516.hp2
 intron_variant MODIFIER c.3511+940dupT
c.3511+940dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78034746
chrX:78034746 CT
CT
 C
C
 2 a0001c0005t0001g0158
a0013c0011t0007g0175
a0001c0005t0001g0158
a0013c0011t0007g0175
 2 HG02897.hp1
NA18954.hp2
HG02897.hp1
NA18954.hp2
 intron_variant MODIFIER c.3511+940delT
c.3511+940delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78034746
chrX:78034807 A
A
 G
G
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.3511+986A>G
c.3511+986A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78034807
chrX:78035095 C
C
 T
T
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.3511+1274C>T
c.3511+1274C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78035095
chrX:78035233 T
T
 C
C
 134 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
others(131): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 135 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(132): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3511+1412T>C
c.3511+1412T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78035233
chrX:78035376 A
A
 G
G
 1 a0001c0001t0001g0034
a0001c0001t0001g0034
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.3511+1555A>G
c.3511+1555A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78035376
chrX:78035582 G
G
 A
A
 1 a0001c0001t0004g0193
a0001c0001t0004g0193
 1 HG02074.hp1
HG02074.hp1
 intron_variant MODIFIER c.3511+1761G>A
c.3511+1761G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78035582
chrX:78035831 T
T
 TCTTCA
TCTTCA
 1 a0012c0013t0017g0102
a0012c0013t0017g0102
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.3511+2011_3511+201
others(9): Show 
c.3511+2011_3511+2015dupCTTCA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78035831
chrX:78035874 A
A
 G
G
 1 a0001c0001t0001g0090
a0001c0001t0001g0090
 1 NA18612.hp1
NA18612.hp1
 intron_variant MODIFIER c.3511+2053A>G
c.3511+2053A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78035874
chrX:78036230 G
G
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2409G>C
c.3511+2409G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036230
chrX:78036231 G
G
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2410G>C
c.3511+2410G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036231
chrX:78036232 G
G
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2411G>C
c.3511+2411G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036232
chrX:78036234 A
A
 ACT
ACT
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2413_3511+241
others(6): Show 
c.3511+2413_3511+2414insCT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036234
chrX:78036235 A
A
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2414A>C
c.3511+2414A>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036235
chrX:78036236 G
G
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2415G>C
c.3511+2415G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036236
chrX:78036237 G
G
 C
C
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2416G>C
c.3511+2416G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036237
chrX:78036238 G
G
 A
A
 1 a0002c0002t0003g0221
a0002c0002t0003g0221
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.3511+2417G>A
c.3511+2417G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036238
chrX:78036651 C
C
 T
T
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3512-2185C>T
c.3512-2185C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036651
chrX:78036774 G
G
 A
A
 2 a0001c0001t0005g0128
a0001c0001t0005g0130
a0001c0001t0005g0128
a0001c0001t0005g0130
 2 HG02615.hp1
HG02886.hp2
HG02615.hp1
HG02886.hp2
 intron_variant MODIFIER c.3512-2062G>A
c.3512-2062G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78036774
chrX:78037538 G
G
 C
C
 2 a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0007g0021
a0001c0001t0008g0122
 2 HG02258.hp1
NA20300.hp1
HG02258.hp1
NA20300.hp1
 intron_variant MODIFIER c.3512-1298G>C
c.3512-1298G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78037538
chrX:78037980 G
G
 GT
GT
 45 a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0092
others(42): Show 
a0001c0001t0001g0025
a0001c0001t0001g0052
a0001c0001t0001g0092
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0139
a0001c0001t0001g0156
a0001c0001t0001g0162
a0001c0001t0001g0172
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0212
a0001c0001t0004g0154
a0001c0001t0004g0174
a0001c0001t0004g0193
a0001c0001t0004g0200
a0001c0001t0004g0208
a0001c0001t0004g0211
a0001c0001t0004g0220
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0125
a0001c0001t0005g0128
a0001c0001t0005g0130
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0010g0020
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0023g0002
a0001c0001t0027g0198
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0014t0005g0146
a0007c0016t0007g0231
 45 HG00280.hp1
HG00558.hp2
HG01106.hp1
others(42): Show 
HG00280.hp1
HG00558.hp2
HG01106.hp1
HG01243.hp1
HG01358.hp1
HG01517.hp1
HG01952.hp1
HG02015.hp1
HG02074.hp1
HG02080.hp2
HG02165.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02735.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18954.hp1
NA18954.hp2
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18984.hp1
NA19000.hp1
NA19001.hp1
NA19005.hp1
NA19009.hp1
NA19030.hp2
NA19067.hp1
NA19074.hp2
NA19075.hp1
NA19089.hp1
NA20752.hp1
 intron_variant MODIFIER c.3512-830dupT
c.3512-830dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTT
GTT
 18 a0001c0001t0001g0118
a0001c0001t0001g0160
a0001c0001t0001g0176
others(15): Show 
a0001c0001t0001g0118
a0001c0001t0001g0160
a0001c0001t0001g0176
a0001c0001t0001g0205
a0001c0001t0005g0126
a0001c0001t0005g0144
a0001c0001t0005g0228
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0010g0012
a0001c0001t0010g0141
a0001c0001t0028g0011
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0011c0015t0005g0127
 18 HG01167.hp1
HG01169.hp2
HG01884.hp2
others(15): Show 
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG02258.hp1
HG02451.hp1
HG02615.hp2
HG02717.hp1
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03540.hp2
HG04115.hp1
HG04204.hp1
NA18969.hp1
NA19001.hp2
NA19070.hp1
NA20129.hp2
NA20300.hp1
 intron_variant MODIFIER c.3512-831_3512-830d
others(4): Show 
c.3512-831_3512-830dupTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTT
GTTT
 2 a0001c0001t0020g0014
a0001c0001t0029g0019
a0001c0001t0020g0014
a0001c0001t0029g0019
 2 HG03225.hp1
HG03540.hp1
HG03225.hp1
HG03540.hp1
 intron_variant MODIFIER c.3512-832_3512-830d
others(5): Show 
c.3512-832_3512-830dupTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
GTTTTTTT
 1 a0002c0002t0002g0049
a0002c0002t0002g0049
 1 NA18951.hp1
NA18951.hp1
 intron_variant MODIFIER c.3512-836_3512-830d
others(9): Show 
c.3512-836_3512-830dupTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
others(3): Show 
GTTTTTTTTTT
 4 a0002c0002t0002g0064
a0002c0002t0002g0070
a0003c0003t0002g0043
others(1): Show 
a0002c0002t0002g0064
a0002c0002t0002g0070
a0003c0003t0002g0043
a0009c0010t0026g0104
 4 HG02165.hp1
NA18969.hp2
NA18974.hp1
others(1): Show 
HG02165.hp1
NA18969.hp2
NA18974.hp1
NA19085.hp1
 intron_variant MODIFIER c.3512-839_3512-830d
others(12): Show 
c.3512-839_3512-830dupTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
others(4): Show 
GTTTTTTTTTTT
 26 a0002c0002t0002g0042
a0002c0002t0002g0051
a0002c0002t0002g0053
others(23): Show 
a0002c0002t0002g0042
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0060
a0002c0002t0002g0067
a0002c0002t0002g0074
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0058
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0014g0073
a0003c0003t0002g0047
a0003c0003t0002g0057
 27 HG00438.hp1
HG00609.hp1
HG01069.hp1
others(24): Show 
HG00438.hp1
HG00609.hp1
HG01069.hp1
HG01074.hp1
HG01255.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
HG02040.hp1
HG02486.hp1
HG02698.hp1
HG03654.hp1
NA18942.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18960.hp1
NA18975.hp2
NA18987.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp1
NA19076.hp1
 intron_variant MODIFIER c.3512-840_3512-830d
others(13): Show 
c.3512-840_3512-830dupTTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
others(5): Show 
GTTTTTTTTTTTT
 23 a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
others(20): Show 
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0050
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0062
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0003g0063
a0002c0002t0003g0079
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0222
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0015g0009
a0003c0003t0002g0056
a0003c0003t0002g0061
 23 HG00597.hp1
HG00621.hp1
HG00735.hp1
others(20): Show 
HG00597.hp1
HG00621.hp1
HG00735.hp1
HG01943.hp1
HG02080.hp1
HG02300.hp1
HG02451.hp2
HG02559.hp1
HG02922.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03516.hp2
HG03831.hp2
HG03927.hp2
NA18940.hp1
NA18953.hp1
NA18966.hp1
NA18989.hp1
NA19011.hp2
NA19079.hp1
NA19082.hp1
NA21309.hp2
 intron_variant MODIFIER c.3512-841_3512-830d
others(14): Show 
c.3512-841_3512-830dupTTTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
others(6): Show 
GTTTTTTTTTTTTT
 18 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0068
others(15): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0036
a0002c0002t0003g0066
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0221
a0002c0002t0016g0084
a0002c0002t0018g0076
a0008c0009t0003g0078
 18 HG00544.hp2
HG00735.hp2
HG00738.hp1
others(15): Show 
HG00544.hp2
HG00735.hp2
HG00738.hp1
HG01258.hp1
HG01496.hp2
HG01884.hp1
HG02056.hp1
HG02683.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03453.hp2
HG03710.hp1
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA19030.hp1
NA20129.hp1
 intron_variant MODIFIER c.3512-842_3512-830d
others(15): Show 
c.3512-842_3512-830dupTTTTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
others(7): Show 
GTTTTTTTTTTTTTT
 4 a0002c0002t0002g0048
a0002c0002t0002g0223
a0002c0002t0003g0046
others(1): Show 
a0002c0002t0002g0048
a0002c0002t0002g0223
a0002c0002t0003g0046
a0002c0002t0013g0075
 4 HG00438.hp2
HG00733.hp2
HG01081.hp2
others(1): Show 
HG00438.hp2
HG00733.hp2
HG01081.hp2
HG02135.hp1
 intron_variant MODIFIER c.3512-843_3512-830d
others(16): Show 
c.3512-843_3512-830dupTTTTTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
others(8): Show 
GTTTTTTTTTTTTTTT
 2 a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0044
a0002c0002t0002g0045
 2 NA18952.hp1
NA19066.hp1
NA18952.hp1
NA19066.hp1
 intron_variant MODIFIER c.3512-844_3512-830d
others(17): Show 
c.3512-844_3512-830dupTTTTTTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 G
G
 GTTTTTTT
others(10): Show 
GTTTTTTTTTTTTTTTTT
 1 a0002c0002t0003g0065
a0002c0002t0003g0065
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.3512-846_3512-830d
others(19): Show 
c.3512-846_3512-830dupTTTTTTTTTTTTTTTTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 GT
GT
 G
G
 10 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0088
others(7): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0088
a0001c0001t0001g0157
a0001c0001t0001g0196
a0001c0001t0004g0027
a0001c0001t0004g0206
a0001c0001t0008g0121
a0002c0002t0002g0072
a0005c0006t0008g0120
 10 HG01169.hp1
HG01256.hp1
HG01496.hp1
others(7): Show 
HG01169.hp1
HG01256.hp1
HG01496.hp1
HG02280.hp1
HG02897.hp2
NA18942.hp2
NA18943.hp1
NA19003.hp1
NA19043.hp1
NA19091.hp1
 intron_variant MODIFIER c.3512-830delT
c.3512-830delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78037980 GTT
GTT
 G
G
 1 a0002c0002t0002g0071
a0002c0002t0002g0071
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.3512-831_3512-830d
others(4): Show 
c.3512-831_3512-830delTT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 INFO_REALIGN_3_PRIME chrX 78037980
chrX:78038753 G
G
 C
C
 1 a0001c0001t0029g0019
a0001c0001t0029g0019
 1 HG03540.hp1
HG03540.hp1
 intron_variant MODIFIER c.3512-83G>C
c.3512-83G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 17/22 chrX 78038753
chrX:78039057 C
C
 T
T
 1 a0002c0002t0003g0046
a0002c0002t0003g0046
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.3658+75C>T
c.3658+75C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78039057
chrX:78039117 CAT
CAT
 C
C
 13 a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
others(10): Show 
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0122
a0001c0001t0020g0014
a0001c0001t0028g0011
a0001c0001t0029g0019
a0007c0016t0007g0231
a0013c0011t0007g0175
 13 HG01243.hp1
HG02258.hp1
HG02559.hp2
others(10): Show 
HG01243.hp1
HG02258.hp1
HG02559.hp2
HG02895.hp1
HG02897.hp1
HG02970.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03540.hp1
NA19030.hp2
NA20300.hp1
 intron_variant MODIFIER c.3658+136_3658+137d
others(4): Show 
c.3658+136_3658+137delAT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78039117
chrX:78039477 C
C
 T
T
 1 a0001c0001t0001g0179
a0001c0001t0001g0179
 1 NA19060.hp1
NA19060.hp1
 intron_variant MODIFIER c.3658+495C>T
c.3658+495C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78039477
chrX:78039586 G
G
 A
A
 1 a0001c0001t0028g0011
a0001c0001t0028g0011
 1 HG02970.hp1
HG02970.hp1
 intron_variant MODIFIER c.3658+604G>A
c.3658+604G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78039586
chrX:78039640 G
G
 C
C
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.3658+658G>C
c.3658+658G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78039640
chrX:78039989 T
T
 C
C
 1 a0001c0001t0004g0208
a0001c0001t0004g0208
 1 HG01952.hp1
HG01952.hp1
 intron_variant MODIFIER c.3659-602T>C
c.3659-602T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78039989
chrX:78040199 G
G
 GC
GC
 10 a0001c0001t0001g0088
a0001c0001t0001g0139
a0001c0001t0004g0154
others(7): Show 
a0001c0001t0001g0088
a0001c0001t0001g0139
a0001c0001t0004g0154
a0001c0001t0004g0200
a0001c0001t0004g0214
a0001c0001t0004g0220
a0001c0001t0004g0230
a0001c0001t0005g0227
a0001c0001t0021g0163
a0001c0001t0025g0204
 10 HG00597.hp2
HG01192.hp1
HG02165.hp2
others(7): Show 
HG00597.hp2
HG01192.hp1
HG02165.hp2
HG02602.hp1
HG03831.hp1
NA18942.hp2
NA18949.hp1
NA19000.hp1
NA19011.hp1
NA19067.hp1
 intron_variant MODIFIER c.3659-381dupC
c.3659-381dupC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 INFO_REALIGN_3_PRIME chrX 78040199
chrX:78040199 G
G
 GCC
GCC
 1 a0001c0001t0001g0183
a0001c0001t0001g0183
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.3659-382_3659-381d
others(4): Show 
c.3659-382_3659-381dupCC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 INFO_REALIGN_3_PRIME chrX 78040199
chrX:78040199 GC
GC
 G
G
 43 a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0118
others(40): Show 
a0001c0001t0001g0022
a0001c0001t0001g0041
a0001c0001t0001g0118
a0001c0001t0001g0168
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0212
a0001c0001t0004g0209
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0224
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0008g0121
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0005t0001g0158
a0001c0005t0001g0159
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0006c0007t0005g0138
a0011c0015t0005g0127
a0013c0011t0007g0175
 43 HG00280.hp1
HG01109.hp1
HG01167.hp1
others(40): Show 
HG00280.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01261.hp1
HG01884.hp2
HG01934.hp1
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02965.hp1
HG02970.hp1
HG03041.hp1
HG03209.hp1
HG03225.hp1
HG03239.hp2
HG03471.hp1
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18906.hp2
NA18951.hp2
NA18954.hp2
NA18984.hp1
NA18995.hp1
NA19003.hp1
NA19043.hp1
NA19055.hp1
NA20129.hp2
 intron_variant MODIFIER c.3659-381delC
c.3659-381delC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 INFO_REALIGN_3_PRIME chrX 78040199
chrX:78040199 GCC
GCC
 G
G
 79 a0001c0001t0003g0016
a0001c0001t0005g0217
a0001c0001t0007g0021
others(76): Show 
a0001c0001t0003g0016
a0001c0001t0005g0217
a0001c0001t0007g0021
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02451.hp2
HG02486.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3659-382_3659-381d
others(4): Show 
c.3659-382_3659-381delCC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 INFO_REALIGN_3_PRIME chrX 78040199
chrX:78040199 GCCC
GCCC
 G
G
 4 a0001c0001t0003g0015
a0002c0002t0002g0059
a0002c0002t0002g0077
others(1): Show 
a0001c0001t0003g0015
a0002c0002t0002g0059
a0002c0002t0002g0077
a0002c0002t0003g0117
 4 HG01258.hp1
HG02300.hp1
HG02559.hp1
others(1): Show 
HG01258.hp1
HG02300.hp1
HG02559.hp1
NA20129.hp1
 intron_variant MODIFIER c.3659-383_3659-381d
others(5): Show 
c.3659-383_3659-381delCCC
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 INFO_REALIGN_3_PRIME chrX 78040199
chrX:78040209 C
C
 G
G
 3 a0002c0002t0003g0029
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0029
a0002c0002t0003g0031
a0002c0002t0003g0032
 3 HG01074.hp1
HG01515.hp1
HG01517.hp2
HG01074.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.3659-382C>G
c.3659-382C>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78040209
chrX:78040217 TA
TA
 T
T
 1 a0012c0013t0017g0102
a0012c0013t0017g0102
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.3659-369delA
c.3659-369delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 INFO_REALIGN_3_PRIME chrX 78040217
chrX:78040273 G
G
 GT
GT
 1 a0012c0013t0017g0102
a0012c0013t0017g0102
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.3659-315dupT
c.3659-315dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 INFO_REALIGN_3_PRIME chrX 78040273
chrX:78040334 G
G
 C
C
 6 a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
others(3): Show 
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0005c0006t0008g0119
a0005c0006t0008g0120
 6 HG02258.hp1
HG02280.hp1
HG02886.hp1
others(3): Show 
HG02258.hp1
HG02280.hp1
HG02886.hp1
HG02922.hp2
HG03195.hp2
NA19043.hp1
 intron_variant MODIFIER c.3659-257G>C
c.3659-257G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 18/22 chrX 78040334
chrX:78040902 G
G
 A
A
 1 a0001c0001t0004g0186
a0001c0001t0004g0186
 1 NA18986.hp1
NA18986.hp1
 intron_variant MODIFIER c.3801+169G>A
c.3801+169G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78040902
chrX:78040953 G
G
 A
A
 1 a0002c0002t0006g0106
a0002c0002t0006g0106
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.3801+220G>A
c.3801+220G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78040953
chrX:78041291 T
T
 C
C
 4 a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
others(1): Show 
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
 4 HG01074.hp1
HG01433.hp1
HG01515.hp1
others(1): Show 
HG01074.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
 intron_variant MODIFIER c.3801+558T>C
c.3801+558T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78041291
chrX:78041436 C
C
 T
T
 3 a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
 3 NA18943.hp1
NA18969.hp2
NA19064.hp2
NA18943.hp1
NA18969.hp2
NA19064.hp2
 intron_variant MODIFIER c.3801+703C>T
c.3801+703C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78041436
chrX:78041546 A
A
 G
G
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.3801+813A>G
c.3801+813A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78041546
chrX:78041786 G
G
 A
A
 1 a0003c0003t0002g0043
a0003c0003t0002g0043
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.3802-799G>A
c.3802-799G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78041786
chrX:78041888 T
T
 C
C
 134 a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
others(131): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0020g0014
a0001c0001t0023g0002
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0011c0015t0005g0127
a0013c0011t0007g0175
 135 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(132): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01943.hp1
HG02015.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp1
HG04184.hp2
HG04204.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18960.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19001.hp2
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.3802-697T>C
c.3802-697T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78041888
chrX:78041908 G
G
 A
A
 2 a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0017
a0001c0001t0007g0018
 2 HG01243.hp1
HG03453.hp1
HG01243.hp1
HG03453.hp1
 intron_variant MODIFIER c.3802-677G>A
c.3802-677G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 chrX 78041908
chrX:78042116 C
C
 CA
CA
 6 a0001c0001t0001g0034
a0001c0001t0004g0027
a0001c0001t0004g0197
others(3): Show 
a0001c0001t0001g0034
a0001c0001t0004g0027
a0001c0001t0004g0197
a0001c0001t0004g0214
a0002c0002t0003g0058
a0007c0016t0007g0231
 6 HG00597.hp2
HG01069.hp1
HG02683.hp2
others(3): Show 
HG00597.hp2
HG01069.hp1
HG02683.hp2
NA18977.hp1
NA19030.hp2
NA19091.hp1
 intron_variant MODIFIER c.3802-449dupA
c.3802-449dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 INFO_REALIGN_3_PRIME chrX 78042116
chrX:78042116 C
C
 CAA
CAA
 8 a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
others(5): Show 
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0222
a0002c0002t0006g0001
 9 HG00733.hp2
HG01255.hp1
HG01496.hp2
others(6): Show 
HG00733.hp2
HG01255.hp1
HG01496.hp2
HG01943.hp1
HG02273.hp2
HG02698.hp1
HG03831.hp2
NA19004.hp1
NA19062.hp1
 intron_variant MODIFIER c.3802-450_3802-449d
others(4): Show 
c.3802-450_3802-449dupAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 INFO_REALIGN_3_PRIME chrX 78042116
chrX:78042116 C
C
 CAAA
CAAA
 71 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(68): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 71 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(68): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01074.hp1
HG01081.hp2
HG01258.hp1
HG01433.hp1
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.3802-451_3802-449d
others(5): Show 
c.3802-451_3802-449dupAAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 INFO_REALIGN_3_PRIME chrX 78042116
chrX:78042116 C
C
 CAAAA
CAAAA
 1 a0002c0002t0003g0081
a0002c0002t0003g0081
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.3802-452_3802-449d
others(6): Show 
c.3802-452_3802-449dupAAAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 INFO_REALIGN_3_PRIME chrX 78042116
chrX:78042116 CA
CA
 C
C
 34 a0001c0001t0001g0041
a0001c0001t0001g0188
a0001c0001t0001g0201
others(31): Show 
a0001c0001t0001g0041
a0001c0001t0001g0188
a0001c0001t0001g0201
a0001c0001t0005g0003
a0001c0001t0005g0013
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0023g0002
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0011c0015t0005g0127
 34 HG00558.hp2
HG01109.hp1
HG01167.hp1
others(31): Show 
HG00558.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp2
HG01884.hp2
HG01928.hp1
HG02015.hp1
HG02165.hp2
HG02451.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02965.hp1
HG03041.hp1
HG03239.hp2
HG03516.hp1
HG03540.hp2
HG03579.hp1
HG04204.hp1
NA18906.hp2
NA18948.hp1
NA18949.hp2
NA18965.hp1
NA19001.hp2
NA19055.hp1
NA19074.hp2
NA19088.hp1
NA20129.hp2
NA21309.hp1
 intron_variant MODIFIER c.3802-449delA
c.3802-449delA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 INFO_REALIGN_3_PRIME chrX 78042116
chrX:78042116 CAA
CAA
 C
C
 1 a0006c0007t0005g0138
a0006c0007t0005g0138
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.3802-450_3802-449d
others(4): Show 
c.3802-450_3802-449delAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 19/22 INFO_REALIGN_3_PRIME chrX 78042116
chrX:78042857 G
G
 GT
GT
 1 a0009c0010t0026g0104
a0009c0010t0026g0104
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.4005+70dupT
c.4005+70dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 20/22 INFO_REALIGN_3_PRIME chrX 78042857
chrX:78043010 TGAA
TGAA
 T
T
 1 a0001c0001t0001g0139
a0001c0001t0001g0139
 1 HG02602.hp1
HG02602.hp1
 intron_variant MODIFIER c.4005+231_4005+233d
others(5): Show 
c.4005+231_4005+233delAGA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 20/22 INFO_REALIGN_3_PRIME chrX 78043010
chrX:78043156 C
C
 T
T
 1 a0002c0002t0002g0059
a0002c0002t0002g0059
 1 HG02300.hp1
HG02300.hp1
 intron_variant MODIFIER c.4006-161C>T
c.4006-161C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 20/22 chrX 78043156
chrX:78043657 C
C
 CT
CT
 6 a0001c0001t0005g0149
a0001c0005t0001g0158
a0001c0005t0001g0159
others(3): Show 
a0001c0001t0005g0149
a0001c0005t0001g0158
a0001c0005t0001g0159
a0002c0002t0003g0086
a0002c0002t0003g0087
a0009c0010t0026g0104
 6 HG02970.hp2
HG03098.hp1
HG03239.hp2
others(3): Show 
HG02970.hp2
HG03098.hp1
HG03239.hp2
NA18954.hp2
NA18974.hp1
NA18984.hp1
 intron_variant MODIFIER c.4123+241dupT
c.4123+241dupT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 INFO_REALIGN_3_PRIME chrX 78043657
chrX:78043657 CT
CT
 C
C
 13 a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0150
others(10): Show 
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0150
a0001c0001t0001g0160
a0001c0001t0001g0168
a0001c0001t0001g0190
a0001c0001t0004g0169
a0001c0001t0005g0147
a0001c0001t0010g0141
a0002c0002t0003g0032
a0002c0002t0003g0063
a0002c0002t0014g0073
a0003c0003t0002g0047
 13 HG01517.hp2
HG01943.hp1
HG02735.hp1
others(10): Show 
HG01517.hp2
HG01943.hp1
HG02735.hp1
HG02965.hp1
HG03041.hp1
NA18612.hp1
NA18942.hp1
NA18942.hp2
NA18951.hp2
NA18969.hp1
NA18988.hp1
NA19003.hp2
NA19056.hp1
 intron_variant MODIFIER c.4123+241delT
c.4123+241delT
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 INFO_REALIGN_3_PRIME chrX 78043657
chrX:78043722 A
A
 G
G
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.4123+288A>G
c.4123+288A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78043722
chrX:78043855 T
T
 A
A
 231 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(228): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 232 HG00140.hp1
HG00280.hp1
HG00438.hp1
others(229): Show 
HG00140.hp1
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4123+421T>A
c.4123+421T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78043855
chrX:78043857 C
C
 T
T
 231 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(228): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0139
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0004g0027
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0167
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0147
a0001c0001t0005g0148
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0007g0021
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0006c0007t0005g0138
a0007c0016t0007g0231
a0008c0009t0003g0078
a0009c0010t0026g0104
a0010c0012t0001g0089
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 232 HG00140.hp1
HG00280.hp1
HG00438.hp1
others(229): Show 
HG00140.hp1
HG00280.hp1
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01952.hp1
HG02015.hp1
HG02027.hp1
HG02040.hp1
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18971.hp1
NA18974.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19083.hp1
NA19085.hp1
NA19088.hp1
NA19089.hp1
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4123+423C>T
c.4123+423C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78043857
chrX:78044211 G
G
 A
A
 1 a0007c0016t0007g0231
a0007c0016t0007g0231
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.4123+777G>A
c.4123+777G>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78044211
chrX:78044255 C
C
 CA
CA
 135 a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
others(132): Show 
a0001c0001t0001g0005
a0001c0001t0001g0022
a0001c0001t0001g0025
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0034
a0001c0001t0001g0041
a0001c0001t0001g0052
a0001c0001t0001g0088
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0118
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0160
a0001c0001t0001g0162
a0001c0001t0001g0164
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0173
a0001c0001t0001g0176
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0190
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0205
a0001c0001t0001g0212
a0001c0001t0001g0216
a0001c0001t0001g0218
a0001c0001t0004g0143
a0001c0001t0004g0152
a0001c0001t0004g0153
a0001c0001t0004g0154
a0001c0001t0004g0161
a0001c0001t0004g0165
a0001c0001t0004g0166
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0174
a0001c0001t0004g0186
a0001c0001t0004g0192
a0001c0001t0004g0193
a0001c0001t0004g0197
a0001c0001t0004g0200
a0001c0001t0004g0206
a0001c0001t0004g0207
a0001c0001t0004g0208
a0001c0001t0004g0209
a0001c0001t0004g0210
a0001c0001t0004g0211
a0001c0001t0004g0214
a0001c0001t0004g0215
a0001c0001t0004g0219
a0001c0001t0004g0220
a0001c0001t0004g0229
a0001c0001t0004g0230
a0001c0001t0005g0003
a0001c0001t0005g0010
a0001c0001t0005g0013
a0001c0001t0005g0125
a0001c0001t0005g0126
a0001c0001t0005g0128
a0001c0001t0005g0129
a0001c0001t0005g0130
a0001c0001t0005g0142
a0001c0001t0005g0144
a0001c0001t0005g0145
a0001c0001t0005g0148
a0001c0001t0005g0227
a0001c0001t0005g0228
a0001c0001t0007g0004
a0001c0001t0007g0006
a0001c0001t0007g0007
a0001c0001t0007g0008
a0001c0001t0007g0017
a0001c0001t0007g0018
a0001c0001t0008g0121
a0001c0001t0008g0122
a0001c0001t0008g0123
a0001c0001t0008g0124
a0001c0001t0010g0012
a0001c0001t0010g0020
a0001c0001t0010g0141
a0001c0001t0011g0225
a0001c0001t0011g0226
a0001c0001t0019g0184
a0001c0001t0020g0014
a0001c0001t0021g0163
a0001c0001t0022g0191
a0001c0001t0023g0002
a0001c0001t0024g0213
a0001c0001t0025g0204
a0001c0001t0027g0198
a0001c0001t0028g0011
a0001c0001t0029g0019
a0001c0005t0001g0158
a0001c0005t0001g0159
a0001c0008t0001g0177
a0001c0014t0005g0146
a0004c0004t0009g0131
a0004c0004t0009g0132
a0004c0004t0009g0133
a0004c0004t0009g0134
a0004c0004t0009g0135
a0005c0006t0008g0119
a0005c0006t0008g0120
a0007c0016t0007g0231
a0011c0015t0005g0127
a0012c0013t0017g0102
a0013c0011t0007g0175
a0014c0017t0004g0189
 135 HG00140.hp1
HG00280.hp1
HG00544.hp1
others(132): Show 
HG00140.hp1
HG00280.hp1
HG00544.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00642.hp1
HG00673.hp1
HG00733.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01261.hp1
HG01358.hp1
HG01496.hp1
HG01517.hp1
HG01884.hp2
HG01928.hp1
HG01934.hp1
HG01952.hp1
HG02015.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02145.hp1
HG02165.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02647.hp1
HG02683.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03688.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04199.hp1
HG04204.hp1
HG04228.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp2
NA18942.hp2
NA18947.hp1
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18951.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18959.hp1
NA18961.hp1
NA18962.hp1
NA18965.hp1
NA18969.hp1
NA18970.hp1
NA18971.hp1
NA18975.hp1
NA18977.hp1
NA18982.hp1
NA18983.hp1
NA18984.hp1
NA18985.hp1
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18995.hp1
NA19000.hp1
NA19001.hp1
NA19001.hp2
NA19003.hp1
NA19005.hp1
NA19009.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19056.hp1
NA19058.hp1
NA19060.hp1
NA19064.hp1
NA19065.hp2
NA19067.hp1
NA19068.hp1
NA19070.hp1
NA19074.hp2
NA19075.hp1
NA19083.hp1
NA19088.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.4123+841dupA
c.4123+841dupA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 INFO_REALIGN_3_PRIME chrX 78044255
chrX:78044255 C
C
 CAA
CAA
 4 a0001c0001t0001g0139
a0001c0001t0001g0155
a0002c0002t0002g0070
others(1): Show 
a0001c0001t0001g0139
a0001c0001t0001g0155
a0002c0002t0002g0070
a0010c0012t0001g0089
 4 HG02027.hp1
HG02602.hp1
NA18969.hp2
others(1): Show 
HG02027.hp1
HG02602.hp1
NA18969.hp2
NA19012.hp1
 intron_variant MODIFIER c.4123+840_4123+841d
others(4): Show 
c.4123+840_4123+841dupAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 INFO_REALIGN_3_PRIME chrX 78044255
chrX:78044255 C
C
 CAAA
CAAA
 79 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(76): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 80 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(77): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.4123+839_4123+841d
others(5): Show 
c.4123+839_4123+841dupAAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 INFO_REALIGN_3_PRIME chrX 78044255
chrX:78044255 C
C
 CAAAA
CAAAA
 1 a0002c0002t0006g0111
a0002c0002t0006g0111
 1 NA18994.hp1
NA18994.hp1
 intron_variant MODIFIER c.4123+838_4123+841d
others(6): Show 
c.4123+838_4123+841dupAAAA
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 INFO_REALIGN_3_PRIME chrX 78044255
chrX:78044276 T
T
 A
A
 8 a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
others(5): Show 
a0001c0001t0005g0136
a0001c0001t0005g0137
a0001c0001t0005g0140
a0001c0001t0005g0147
a0001c0001t0005g0149
a0001c0001t0005g0217
a0001c0001t0005g0224
a0006c0007t0005g0138
 8 HG01109.hp1
HG02280.hp2
HG02965.hp1
others(5): Show 
HG01109.hp1
HG02280.hp2
HG02965.hp1
HG03239.hp2
HG03516.hp1
HG03579.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.4123+842T>A
c.4123+842T>A
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78044276
chrX:78044520 C
C
 T
T
 3 a0001c0001t0001g0150
a0001c0001t0001g0180
a0001c0001t0001g0201
a0001c0001t0001g0150
a0001c0001t0001g0180
a0001c0001t0001g0201
 3 HG02083.hp1
NA19056.hp1
NA19088.hp1
HG02083.hp1
NA19056.hp1
NA19088.hp1
 intron_variant MODIFIER c.4124-950C>T
c.4124-950C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78044520
chrX:78044632 G
G
 C
C
 1 a0002c0002t0003g0080
a0002c0002t0003g0080
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.4124-838G>C
c.4124-838G>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78044632
chrX:78044917 G
G
 T
T
 81 a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
others(78): Show 
a0001c0001t0003g0015
a0001c0001t0003g0016
a0002c0002t0002g0023
a0002c0002t0002g0037
a0002c0002t0002g0040
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0062
a0002c0002t0002g0064
a0002c0002t0002g0067
a0002c0002t0002g0068
a0002c0002t0002g0069
a0002c0002t0002g0070
a0002c0002t0002g0071
a0002c0002t0002g0072
a0002c0002t0002g0074
a0002c0002t0002g0077
a0002c0002t0002g0103
a0002c0002t0002g0116
a0002c0002t0002g0195
a0002c0002t0002g0223
a0002c0002t0003g0024
a0002c0002t0003g0028
a0002c0002t0003g0029
a0002c0002t0003g0030
a0002c0002t0003g0031
a0002c0002t0003g0032
a0002c0002t0003g0035
a0002c0002t0003g0036
a0002c0002t0003g0038
a0002c0002t0003g0039
a0002c0002t0003g0046
a0002c0002t0003g0058
a0002c0002t0003g0063
a0002c0002t0003g0065
a0002c0002t0003g0066
a0002c0002t0003g0079
a0002c0002t0003g0080
a0002c0002t0003g0081
a0002c0002t0003g0082
a0002c0002t0003g0083
a0002c0002t0003g0085
a0002c0002t0003g0086
a0002c0002t0003g0087
a0002c0002t0003g0115
a0002c0002t0003g0117
a0002c0002t0003g0221
a0002c0002t0003g0222
a0002c0002t0006g0001
a0002c0002t0006g0105
a0002c0002t0006g0106
a0002c0002t0006g0107
a0002c0002t0006g0108
a0002c0002t0006g0109
a0002c0002t0006g0110
a0002c0002t0006g0111
a0002c0002t0006g0112
a0002c0002t0006g0113
a0002c0002t0012g0114
a0002c0002t0013g0075
a0002c0002t0014g0073
a0002c0002t0015g0009
a0002c0002t0016g0084
a0002c0002t0018g0076
a0003c0003t0002g0043
a0003c0003t0002g0047
a0003c0003t0002g0056
a0003c0003t0002g0057
a0003c0003t0002g0061
a0008c0009t0003g0078
a0009c0010t0026g0104
 82 HG00438.hp1
HG00438.hp2
HG00544.hp2
others(79): Show 
HG00438.hp1
HG00438.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp2
HG01255.hp1
HG01258.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp1
HG01517.hp2
HG01884.hp1
HG01943.hp1
HG02040.hp1
HG02056.hp1
HG02080.hp1
HG02135.hp1
HG02165.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp1
HG02683.hp1
HG02698.hp1
HG02922.hp1
HG02970.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03239.hp1
HG03453.hp2
HG03516.hp2
HG03654.hp1
HG03710.hp1
HG03831.hp2
HG03927.hp2
HG04184.hp2
NA18522.hp1
NA18906.hp1
NA18940.hp1
NA18942.hp1
NA18943.hp1
NA18944.hp1
NA18945.hp1
NA18947.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18960.hp1
NA18966.hp1
NA18969.hp2
NA18974.hp1
NA18975.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp1
NA19003.hp2
NA19004.hp1
NA19007.hp1
NA19011.hp2
NA19030.hp1
NA19062.hp1
NA19063.hp1
NA19064.hp2
NA19065.hp1
NA19066.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19085.hp1
NA20129.hp1
NA21309.hp2
 intron_variant MODIFIER c.4124-553G>T
c.4124-553G>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78044917
chrX:78045070 C
C
 T
T
 1 a0002c0002t0002g0053
a0002c0002t0002g0053
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.4124-400C>T
c.4124-400C>T
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78045070
chrX:78045317 A
A
 G
G
 1 a0001c0001t0001g0151
a0001c0001t0001g0151
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.4124-153A>G
c.4124-153A>G
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 21/22 chrX 78045317
chrX:78045583 T
T
 C
C
 1 a0002c0002t0003g0028
a0002c0002t0003g0028
 1 HG04184.hp2
HG04184.hp2
 intron_variant MODIFIER c.4226+11T>C
c.4226+11T>C
ATP7A ENSG00000165240.22 transcript ENST00000341514.11 protein_coding 22/22 chrX 78045583

  • 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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