geneid | 9857 |
---|---|
ensemblid | ENSG00000135837.17 |
hgncid | 24238 |
symbol | CEP350 |
name | centrosomal protein 350 |
refseq_nuc | NM_014810.5 |
refseq_prot | NP_055625.4 |
ensembl_nuc | ENST00000367607.8 |
ensembl_prot | ENSP00000356579.3 |
mane_status | MANE Select |
chr | chr1 |
start | 179954810 |
end | 180114875 |
strand | + |
ver | v1.2 |
region | chr1:179954810-180114875 |
region5000 | chr1:179949810-180119875 |
regionname0 | CEP350_chr1_179954810_180114875 |
regionname5000 | CEP350_chr1_179949810_180119875 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 3117 | 88 | 14 | 19 | 42 | 4 | 8 | 31 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002 | 1/0 | 3117 | 54 | 36 | 12 | 4 | 0 | 1 | 2 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0003 | 0/0 | 3117 | 43 | 2 | 1 | 34 | 1 | 5 | 26 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0004 | 0/0 | 3117 | 16 | 10 | 1 | 0 | 2 | 3 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0005 | 0/0 | 3117 | 10 | 3 | 1 | 3 | 0 | 3 | 2 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0006 | 0/0 | 3117 | 6 | 5 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0007 | 0/0 | 3117 | 6 | 0 | 4 | 0 | 1 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0008 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0009 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0010 | 0/0 | 3117 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0011 | 0/0 | 3117 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0012 | 0/0 | 3117 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0013 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0014 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0015 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0016 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0017 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0018 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0019 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0020 | 0/0 | 3117 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0021 | 0/0 | 3117 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0022 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0023 | 0/0 | 3117 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0024 | 0/0 | 3117 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/1 | 9354 | 85 | 14 | 19 | 39 | 4 | 8 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0002 | 1/0 | 9354 | 46 | 29 | 11 | 4 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0003 | 0/0 | 9354 | 41 | 2 | 1 | 32 | 1 | 5 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0004 | 0/0 | 9354 | 16 | 10 | 1 | 0 | 2 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0005 | 0/0 | 9354 | 10 | 3 | 1 | 3 | 0 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0006 | 0/0 | 9354 | 6 | 5 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0007 | 0/0 | 9354 | 5 | 5 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0008 | 0/0 | 9354 | 5 | 0 | 3 | 0 | 1 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0009 | 0/0 | 9354 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0010 | 0/0 | 9354 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0011 | 0/0 | 9354 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0012 | 0/0 | 9354 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0013 | 0/0 | 9354 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0014 | 0/0 | 9354 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0015 | 0/0 | 9354 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0016 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0017 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0018 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0019 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0020 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0021 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0022 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0023 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0024 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0025 | 0/0 | 9354 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0026 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0027 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0028 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0029 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0030 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0031 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0032 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
c0033 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/1 | 4062 | 91 | 14 | 20 | 45 | 4 | 7 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0002 | 1/0 | 4061 | 87 | 33 | 4 | 39 | 1 | 9 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0003 | 0/0 | 4061 | 20 | 14 | 1 | 0 | 2 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0004 | 0/0 | 4059 | 16 | 8 | 4 | 4 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0005 | 0/0 | 4061 | 7 | 1 | 6 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0006 | 0/0 | 4060 | 5 | 0 | 4 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0007 | 0/0 | 4061 | 5 | 4 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0008 | 0/0 | 4061 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0009 | 0/0 | 4061 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0010 | 0/0 | 4061 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0011 | 0/0 | 4060 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0012 | 0/0 | 4062 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0013 | 0/0 | 4062 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0014 | 0/0 | 4062 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0015 | 0/0 | 4060 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0016 | 0/0 | 4061 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0017 | 0/0 | 4062 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0018 | 0/0 | 4062 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0019 | 0/0 | 4061 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
t0020 | 0/0 | 4059 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0071 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0171 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 9354 | 85 | 14 | 19 | 39 | 4 | 8 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0011 | 0/0 | 9354 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0033 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002 | 1/0 | 9354 | 46 | 29 | 11 | 4 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0007 | 0/0 | 9354 | 5 | 5 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0016 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0020 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0022 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0003c0003 | 0/0 | 9354 | 41 | 2 | 1 | 32 | 1 | 5 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0003c0013 | 0/0 | 9354 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0004c0004 | 0/0 | 9354 | 16 | 10 | 1 | 0 | 2 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0005c0005 | 0/0 | 9354 | 10 | 3 | 1 | 3 | 0 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0006c0006 | 0/0 | 9354 | 6 | 5 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0007c0008 | 0/0 | 9354 | 5 | 0 | 3 | 0 | 1 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0007c0031 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0008c0009 | 0/0 | 9354 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0009c0010 | 0/0 | 9354 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0010c0015 | 0/0 | 9354 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0010c0029 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0011c0014 | 0/0 | 9354 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0012c0012 | 0/0 | 9354 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0013c0027 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0014c0026 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0015c0024 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0016c0023 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0017c0021 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0018c0018 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0019c0017 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0020c0019 | 0/0 | 9354 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0021c0025 | 0/0 | 9354 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0022c0028 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0023c0030 | 0/0 | 9354 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0024c0032 | 0/0 | 9354 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 13415 | 81 | 14 | 17 | 38 | 4 | 7 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0001t0012 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0001t0014 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0001t0017 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0001t0018 | 0/0 | 13415 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0011t0001 | 0/0 | 13415 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0001c0033t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0002 | 1/0 | 13414 | 13 | 11 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0003 | 0/0 | 13414 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0004 | 0/0 | 13412 | 15 | 8 | 4 | 3 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0005 | 0/0 | 13414 | 7 | 1 | 6 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0007 | 0/0 | 13414 | 5 | 4 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0015 | 0/0 | 13413 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0016 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0002t0020 | 0/0 | 13412 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0007t0002 | 0/0 | 13414 | 5 | 5 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0016t0003 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0020t0019 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0002c0022t0002 | 0/0 | 13414 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0003c0003t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0003c0003t0002 | 0/0 | 13414 | 40 | 2 | 1 | 31 | 1 | 5 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0003c0013t0002 | 0/0 | 13414 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0004c0004t0003 | 0/0 | 13414 | 16 | 10 | 1 | 0 | 2 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0005c0005t0002 | 0/0 | 13414 | 10 | 3 | 1 | 3 | 0 | 3 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0006c0006t0002 | 0/0 | 13414 | 6 | 5 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0007c0008t0006 | 0/0 | 13413 | 4 | 0 | 3 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0007c0008t0011 | 0/0 | 13413 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0007c0031t0006 | 0/0 | 13413 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0008c0009t0008 | 0/0 | 13414 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0009c0010t0002 | 0/0 | 13414 | 3 | 3 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0010c0015t0002 | 0/0 | 13414 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0010c0029t0010 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0011c0014t0002 | 0/0 | 13414 | 2 | 0 | 0 | 2 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0012c0012t0009 | 0/0 | 13414 | 2 | 2 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0013c0027t0002 | 0/0 | 13414 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0014c0026t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0015c0024t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0016c0023t0002 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0017c0021t0004 | 0/0 | 13412 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0018c0018t0001 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0019c0017t0001 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0020c0019t0001 | 0/0 | 13415 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0021c0025t0013 | 0/0 | 13415 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0022c0028t0010 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0023c0030t0001 | 0/0 | 13415 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
a0024c0032t0002 | 0/0 | 13414 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | copy fasta | chr1 | 179949810 | 180119875 |
actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0073 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0171 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0012g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0014g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0017g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0001t0018g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0011t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0011t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0001c0033t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0074 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0002g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0003g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0003g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0003g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0029 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0004g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0123 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0005g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0001 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0007g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0015g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0016g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0002t0020g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0007t0002g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0016t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0020t0019g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0002c0022t0002g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0103 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0003t0002g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0013t0002g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0003c0013t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0004c0004t0003g0064 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0005c0005t0002g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0006t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0006t0002g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0006t0002g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0006t0002g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0006t0002g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0006c0006t0002g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0008t0006g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0008t0006g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0008t0006g0015 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0008t0006g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0008t0011g0016 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0007c0031t0006g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0008c0009t0008g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0008c0009t0008g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0008c0009t0008g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0009c0010t0002g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0009c0010t0002g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0009c0010t0002g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0010c0015t0002g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0010c0015t0002g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0010c0029t0010g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0011c0014t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0011c0014t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0012c0012t0009g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0012c0012t0009g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0013c0027t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0014c0026t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0015c0024t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0016c0023t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0017c0021t0004g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0018c0018t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0019c0017t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0020c0019t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0021c0025t0013g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0022c0028t0010g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0023c0030t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
a0024c0032t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00323 | hp1 | a0007 | c0008 | t0011 | g0016 | EUR | FIN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0071 | EUR | FIN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00544 | hp1 | a0003 | c0003 | t0002 | g0113 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00558 | hp2 | a0002 | c0002 | t0020 | g0034 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00597 | hp1 | a0017 | c0021 | t0004 | g0031 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | CHS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00639 | hp1 | a0002 | c0002 | t0005 | g0134 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0150 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00733 | hp1 | a0019 | c0017 | t0001 | g0162 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00733 | hp2 | a0002 | c0002 | t0005 | g0129 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00738 | hp1 | a0002 | c0002 | t0004 | g0032 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG00738 | hp2 | a0007 | c0031 | t0006 | g0017 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01069 | hp1 | a0002 | c0002 | t0007 | g0001 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0154 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01074 | hp1 | a0005 | c0005 | t0002 | g0126 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01074 | hp2 | a0006 | c0006 | t0002 | g0232 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0241 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01099 | hp2 | a0002 | c0002 | t0005 | g0123 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01109 | hp1 | a0020 | c0019 | t0001 | g0224 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01109 | hp2 | a0002 | c0002 | t0004 | g0029 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0184 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01167 | hp2 | a0002 | c0002 | t0005 | g0125 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01168 | hp1 | a0002 | c0002 | t0004 | g0035 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0203 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01169 | hp1 | a0002 | c0002 | t0004 | g0036 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01169 | hp2 | a0002 | c0002 | t0005 | g0135 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01175 | hp1 | a0002 | c0002 | t0005 | g0136 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0072 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0037 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01192 | hp2 | a0001 | c0001 | t0014 | g0206 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01243 | hp1 | a0002 | c0022 | t0002 | g0002 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0169 | AMR | PUR | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0166 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01256 | hp2 | a0007 | c0008 | t0006 | g0013 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0198 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01258 | hp2 | a0007 | c0008 | t0006 | g0014 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01261 | hp1 | a0003 | c0003 | t0002 | g0237 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0070 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01346 | hp1 | a0004 | c0004 | t0003 | g0058 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0172 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0185 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01496 | hp2 | a0001 | c0001 | t0017 | g0208 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01516 | hp1 | a0004 | c0004 | t0003 | g0063 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0226 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01517 | hp1 | a0004 | c0004 | t0003 | g0062 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0073 | EUR | IBS | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01891 | hp1 | a0005 | c0005 | t0002 | g0139 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01891 | hp2 | a0001 | c0001 | t0001 | g0220 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0186 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0170 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02004 | hp2 | a0018 | c0018 | t0001 | g0039 | AMR | PEL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02015 | hp1 | a0003 | c0003 | t0002 | g0105 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0160 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02027 | hp1 | a0003 | c0003 | t0002 | g0104 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02027 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02040 | hp1 | a0003 | c0003 | t0002 | g0109 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02040 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02055 | hp1 | a0002 | c0002 | t0003 | g0045 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0219 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02056 | hp1 | a0003 | c0003 | t0002 | g0094 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02056 | hp2 | a0005 | c0005 | t0002 | g0138 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02080 | hp2 | a0001 | c0001 | t0012 | g0195 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02129 | hp1 | a0002 | c0002 | t0004 | g0020 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02129 | hp2 | a0015 | c0024 | t0001 | g0155 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02135 | hp2 | a0003 | c0003 | t0002 | g0099 | EAS | KHV | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02165 | hp1 | a0003 | c0003 | t0002 | g0093 | EAS | CDX | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02165 | hp2 | a0001 | c0011 | t0001 | g0158 | EAS | CDX | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02257 | hp1 | a0004 | c0004 | t0003 | g0049 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02257 | hp2 | a0002 | c0002 | t0004 | g0028 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02258 | hp1 | a0002 | c0007 | t0002 | g0059 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02258 | hp2 | a0002 | c0002 | t0007 | g0001 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0212 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02280 | hp2 | a0004 | c0004 | t0003 | g0048 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02451 | hp1 | a0003 | c0003 | t0002 | g0080 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02451 | hp2 | a0002 | c0002 | t0003 | g0043 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02572 | hp1 | a0002 | c0002 | t0015 | g0019 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02572 | hp2 | a0003 | c0003 | t0002 | g0081 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02615 | hp1 | a0024 | c0032 | t0002 | g0130 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02615 | hp2 | a0002 | c0016 | t0003 | g0046 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02622 | hp1 | a0002 | c0002 | t0007 | g0067 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02622 | hp2 | a0010 | c0015 | t0002 | g0132 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02647 | hp1 | a0002 | c0002 | t0004 | g0021 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02647 | hp2 | a0004 | c0004 | t0003 | g0054 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02698 | hp1 | a0004 | c0004 | t0003 | g0064 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02698 | hp2 | a0002 | c0002 | t0002 | g0128 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0038 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02717 | hp2 | a0002 | c0002 | t0016 | g0246 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02723 | hp1 | a0002 | c0020 | t0019 | g0010 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02723 | hp2 | a0006 | c0006 | t0002 | g0041 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02809 | hp1 | a0008 | c0009 | t0008 | g0007 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02809 | hp2 | a0002 | c0002 | t0002 | g0003 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02818 | hp1 | a0001 | c0001 | t0001 | g0040 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02818 | hp2 | a0009 | c0010 | t0002 | g0239 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02886 | hp1 | a0002 | c0002 | t0004 | g0022 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02886 | hp2 | a0002 | c0002 | t0002 | g0131 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0214 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02895 | hp2 | a0002 | c0002 | t0007 | g0069 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02896 | hp1 | a0009 | c0010 | t0002 | g0238 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02896 | hp2 | a0004 | c0004 | t0003 | g0047 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02897 | hp1 | a0009 | c0010 | t0002 | g0240 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02897 | hp2 | a0001 | c0001 | t0001 | g0213 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0194 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02922 | hp2 | a0006 | c0006 | t0002 | g0230 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02965 | hp1 | a0006 | c0006 | t0002 | g0229 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02965 | hp2 | a0004 | c0004 | t0003 | g0053 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0153 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02976 | hp2 | a0005 | c0005 | t0002 | g0127 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03041 | hp1 | a0002 | c0002 | t0002 | g0005 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03041 | hp2 | a0012 | c0012 | t0009 | g0065 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03098 | hp1 | a0002 | c0007 | t0002 | g0242 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03098 | hp2 | a0002 | c0002 | t0004 | g0024 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03130 | hp1 | a0002 | c0002 | t0004 | g0025 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03130 | hp2 | a0002 | c0007 | t0002 | g0060 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03195 | hp1 | a0004 | c0004 | t0003 | g0057 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03195 | hp2 | a0006 | c0006 | t0002 | g0228 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03239 | hp1 | a0004 | c0004 | t0003 | g0052 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0152 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03453 | hp1 | a0002 | c0002 | t0003 | g0044 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03453 | hp2 | a0008 | c0009 | t0008 | g0008 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03486 | hp1 | a0002 | c0007 | t0002 | g0243 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03486 | hp2 | a0002 | c0002 | t0002 | g0076 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03490 | hp1 | a0003 | c0003 | t0002 | g0086 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03490 | hp2 | a0021 | c0025 | t0013 | g0180 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03492 | hp1 | a0003 | c0003 | t0002 | g0102 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0202 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03516 | hp1 | a0002 | c0002 | t0004 | g0023 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0215 | AFR | ESN | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03540 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03540 | hp2 | a0010 | c0015 | t0002 | g0133 | AFR | GWD | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03579 | hp1 | a0002 | c0002 | t0007 | g0068 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03579 | hp2 | a0002 | c0002 | t0004 | g0027 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03654 | hp1 | a0007 | c0008 | t0006 | g0015 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03654 | hp2 | a0001 | c0001 | t0001 | g0205 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03669 | hp1 | a0005 | c0005 | t0002 | g0144 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03669 | hp2 | a0001 | c0001 | t0018 | g0177 | SAS | PJL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03834 | hp1 | a0005 | c0005 | t0002 | g0142 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0207 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03942 | hp1 | a0003 | c0003 | t0002 | g0101 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03942 | hp2 | a0004 | c0004 | t0003 | g0042 | SAS | BEB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0164 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04204 | hp2 | a0003 | c0003 | t0002 | g0100 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0173 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG04228 | hp2 | a0003 | c0003 | t0002 | g0079 | SAS | STU | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18522 | hp1 | a0004 | c0004 | t0003 | g0050 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18522 | hp2 | a0002 | c0002 | t0004 | g0026 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18612 | hp1 | a0003 | c0003 | t0002 | g0087 | EAS | CHB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0188 | EAS | CHB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0223 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18906 | hp2 | a0004 | c0004 | t0003 | g0055 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18941 | hp1 | a0003 | c0003 | t0002 | g0121 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18941 | hp2 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18943 | hp2 | a0003 | c0003 | t0002 | g0085 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18946 | hp1 | a0003 | c0003 | t0002 | g0122 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18946 | hp2 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18947 | hp1 | a0003 | c0003 | t0002 | g0106 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18947 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18948 | hp1 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18948 | hp2 | a0002 | c0002 | t0004 | g0033 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18949 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18949 | hp2 | a0003 | c0003 | t0002 | g0091 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18950 | hp2 | a0003 | c0003 | t0002 | g0082 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0196 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18953 | hp2 | a0013 | c0027 | t0002 | g0084 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18956 | hp1 | a0011 | c0014 | t0002 | g0089 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18956 | hp2 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18961 | hp1 | a0011 | c0014 | t0002 | g0088 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18967 | hp2 | a0003 | c0003 | t0002 | g0108 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18971 | hp2 | a0003 | c0013 | t0002 | g0111 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18975 | hp1 | a0005 | c0005 | t0002 | g0140 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18978 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18978 | hp2 | a0003 | c0003 | t0002 | g0107 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18979 | hp2 | a0003 | c0003 | t0002 | g0095 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18988 | hp2 | a0003 | c0003 | t0002 | g0117 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18990 | hp1 | a0003 | c0003 | t0002 | g0116 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18995 | hp1 | a0003 | c0003 | t0002 | g0096 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18998 | hp1 | a0014 | c0026 | t0001 | g0183 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18998 | hp2 | a0003 | c0003 | t0002 | g0120 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19002 | hp1 | a0003 | c0003 | t0002 | g0083 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19002 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0175 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19004 | hp2 | a0003 | c0003 | t0001 | g0090 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19005 | hp1 | a0005 | c0005 | t0002 | g0141 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19012 | hp1 | a0003 | c0013 | t0002 | g0110 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19012 | hp2 | a0023 | c0030 | t0001 | g0218 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19030 | hp1 | a0002 | c0002 | t0002 | g0244 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19030 | hp2 | a0010 | c0029 | t0010 | g0011 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19043 | hp1 | a0022 | c0028 | t0010 | g0012 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19043 | hp2 | a0002 | c0007 | t0002 | g0061 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19055 | hp1 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19055 | hp2 | a0003 | c0003 | t0002 | g0112 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19062 | hp1 | a0001 | c0011 | t0001 | g0149 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19062 | hp2 | a0003 | c0003 | t0002 | g0118 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19063 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19063 | hp2 | a0003 | c0003 | t0002 | g0225 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19068 | hp1 | a0003 | c0003 | t0002 | g0114 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0217 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19074 | hp1 | a0003 | c0003 | t0002 | g0098 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19074 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19078 | hp1 | a0003 | c0003 | t0002 | g0097 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19078 | hp2 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19081 | hp1 | a0001 | c0033 | t0001 | g0176 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19081 | hp2 | a0002 | c0002 | t0004 | g0030 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19083 | hp2 | a0003 | c0003 | t0002 | g0092 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19084 | hp1 | a0003 | c0003 | t0002 | g0119 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19240 | hp1 | a0016 | c0023 | t0002 | g0006 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA19240 | hp2 | a0002 | c0002 | t0002 | g0075 | AFR | YRI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20129 | hp1 | a0002 | c0002 | t0002 | g0078 | AFR | ASW | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0204 | AFR | ASW | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20752 | hp1 | a0001 | c0001 | t0001 | g0163 | EUR | TSI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20752 | hp2 | a0003 | c0003 | t0002 | g0103 | EUR | TSI | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20905 | hp1 | a0005 | c0005 | t0002 | g0143 | SAS | GIH | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0165 | SAS | GIH | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0222 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG01123 | hp2 | a0007 | c0008 | t0006 | g0018 | AMR | CLM | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02109 | hp1 | a0002 | c0002 | t0002 | g0245 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0211 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02486 | hp1 | a0002 | c0002 | t0002 | g0247 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02486 | hp2 | a0004 | c0004 | t0003 | g0051 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02559 | hp1 | a0002 | c0002 | t0002 | g0077 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG02559 | hp2 | a0005 | c0005 | t0002 | g0137 | AFR | ACB | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03471 | hp1 | a0004 | c0004 | t0003 | g0056 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG03471 | hp2 | a0008 | c0009 | t0008 | g0009 | AFR | MSL | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0193 | AFR | USA | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
HG06807 | hp2 | a0002 | c0002 | t0005 | g0124 | AFR | USA | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA18955 | hp2 | a0003 | c0003 | t0002 | g0115 | EAS | JPT | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA21309 | hp1 | a0012 | c0012 | t0009 | g0066 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
NA21309 | hp2 | a0006 | c0006 | t0002 | g0231 | AFR | LWK | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0171 | REF | REF | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
homoSapiens_grch38 | hp1 | a0002 | c0002 | t0002 | g0074 | REF | REF | CEP350_chr1_179949810_180119875 | CEP350 | chr1 | 179949810 | 180119875 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179990589
|
C | G | 1 | a0006 | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
missense_variant | MODERATE | c.203C>G | p.Ser68Cys | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/38 | 549/13414 | 203/9354 | 68/3117 | chr1 | 179990589 | ||
chr1:179996990
|
A | T | 1 | a0024 | 1 | HG02615.hp1 | missense_variant | MODERATE | c.833A>T | p.His278Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/38 | 1179/13414 | 833/9354 | 278/3117 | chr1 | 179996990 | ||
chr1:180006477
|
C | T | 1 | a0023 | 1 | NA19012.hp2 | missense_variant | MODERATE | c.1156C>T | p.Pro386Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/38 | 1502/13414 | 1156/9354 | 386/3117 | chr1 | 180006477 | ||
chr1:180014018
|
A | G | 2 | a0010a0022 | 4 | HG02622.hp2 HG03540.hp2 NA19030.hp2 others(1): Show |
missense_variant | MODERATE | c.1565A>G | p.Asp522Gly | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/38 | 1911/13414 | 1565/9354 | 522/3117 | chr1 | 180014018 | ||
chr1:180014060
|
A | T | 1 | a0013 | 1 | NA18953.hp2 | missense_variant | MODERATE | c.1607A>T | p.Gln536Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/38 | 1953/13414 | 1607/9354 | 536/3117 | chr1 | 180014060 | ||
chr1:180014445
|
G | T | 1 | a0014 | 1 | NA18998.hp1 | missense_variant | MODERATE | c.1992G>T | p.Leu664Phe | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/38 | 2338/13414 | 1992/9354 | 664/3117 | chr1 | 180014445 | ||
chr1:180020095
|
A | G | 1 | a0021 | 1 | HG03490.hp2 | missense_variant | MODERATE | c.2321A>G | p.Asp774Gly | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 2667/13414 | 2321/9354 | 774/3117 | chr1 | 180020095 | ||
chr1:180020193
|
A | G | 1 | a0015 | 1 | HG02129.hp2 | missense_variant | MODERATE | c.2419A>G | p.Thr807Ala | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 2765/13414 | 2419/9354 | 807/3117 | chr1 | 180020193 | ||
chr1:180020449
|
G | C | 1 | a0005 | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
missense_variant | MODERATE | c.2675G>C | p.Arg892Thr | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 3021/13414 | 2675/9354 | 892/3117 | chr1 | 180020449 | ||
chr1:180020607
|
G | C | 8 | a0001a0014a0015others(5): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
missense_variant | MODERATE | c.2833G>C | p.Glu945Gln | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 3179/13414 | 2833/9354 | 945/3117 | chr1 | 180020607 | ||
chr1:180022725
|
C | T | 1 | a0016 | 1 | NA19240.hp1 | missense_variant | MODERATE | c.3263C>T | p.Thr1088Ile | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/38 | 3609/13414 | 3263/9354 | 1088/3117 | chr1 | 180022725 | ||
chr1:180031407
|
G | T | 1 | a0007 | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
missense_variant | MODERATE | c.3638G>T | p.Gly1213Val | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/38 | 3984/13414 | 3638/9354 | 1213/3117 | chr1 | 180031407 | ||
chr1:180031443
|
A | G | 1 | a0020 | 1 | HG01109.hp1 | missense_variant | MODERATE | c.3674A>G | p.Gln1225Arg | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/38 | 4020/13414 | 3674/9354 | 1225/3117 | chr1 | 180031443 | ||
chr1:180034056
|
C | T | 1 | a0018 | 1 | HG02004.hp2 | missense_variant | MODERATE | c.3920C>T | p.Thr1307Met | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/38 | 4266/13414 | 3920/9354 | 1307/3117 | chr1 | 180034056 | ||
chr1:180041776
|
A | G | 4 | a0003a0005a0011others(1): Show | 56 | HG00544.hp1 HG01074.hp1 HG01261.hp1 others(53): Show |
missense_variant | MODERATE | c.4336A>G | p.Thr1446Ala | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/38 | 4682/13414 | 4336/9354 | 1446/3117 | chr1 | 180041776 | ||
chr1:180044100
|
T | G | 1 | a0004 | 16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
missense_variant | MODERATE | c.4549T>G | p.Ser1517Ala | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/38 | 4895/13414 | 4549/9354 | 1517/3117 | chr1 | 180044100 | ||
chr1:180075122
|
C | T | 1 | a0008 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
missense_variant | MODERATE | c.5668C>T | p.Arg1890Cys | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/38 | 6014/13414 | 5668/9354 | 1890/3117 | chr1 | 180075122 | ||
chr1:180080588
|
A | T | 1 | a0009 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
missense_variant | MODERATE | c.6051A>T | p.Gln2017His | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/38 | 6397/13414 | 6051/9354 | 2017/3117 | chr1 | 180080588 | ||
chr1:180092841
|
G | C | 1 | a0019 | 1 | HG00733.hp1 | missense_variant | MODERATE | c.6736G>C | p.Asp2246His | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 7082/13414 | 6736/9354 | 2246/3117 | chr1 | 180092841 | ||
chr1:180092944
|
A | T | 1 | a0017 | 1 | HG00597.hp1 | missense_variant | MODERATE | c.6839A>T | p.Lys2280Ile | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 7185/13414 | 6839/9354 | 2280/3117 | chr1 | 180092944 | ||
chr1:180093940
|
T | C | 1 | a0008 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
missense_variant | MODERATE | c.7835T>C | p.Phe2612Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8181/13414 | 7835/9354 | 2612/3117 | chr1 | 180093940 | ||
chr1:180093973
|
T | C | 1 | a0022 | 1 | NA19043.hp1 | missense_variant | MODERATE | c.7868T>C | p.Ile2623Thr | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8214/13414 | 7868/9354 | 2623/3117 | chr1 | 180093973 | ||
chr1:180094310
|
G | C | 1 | a0012 | 2 | HG03041.hp2 NA21309.hp1 |
missense_variant | MODERATE | c.8205G>C | p.Lys2735Asn | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8551/13414 | 8205/9354 | 2735/3117 | chr1 | 180094310 | ||
chr1:180095670
|
C | G | 1 | a0011 | 2 | NA18956.hp1 NA18961.hp1 |
missense_variant | MODERATE | c.8659C>G | p.Gln2887Glu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 35/38 | 9005/13414 | 8659/9354 | 2887/3117 | chr1 | 180095670 |
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179996646
|
C | T | 1 | a0001c0033 | 1 | NA19081.hp1 | synonymous_variant | LOW | c.489C>T | p.Ser163Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/38 | 835/13414 | 489/9354 | 163/3117 | chr1 | 179996646 | ||
chr1:180003202
|
A | C | 2 | a0007c0008a0007c0031 | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
synonymous_variant | LOW | c.1047A>C | p.Arg349Arg | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/38 | 1393/13414 | 1047/9354 | 349/3117 | chr1 | 180003202 | ||
chr1:180019989
|
T | C | 1 | a0002c0016 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.2215T>C | p.Leu739Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 2561/13414 | 2215/9354 | 739/3117 | chr1 | 180019989 | ||
chr1:180020672
|
T | C | 4 | a0002c0020a0008c0009a0010c0029others(1): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
synonymous_variant | LOW | c.2898T>C | p.Cys966Cys | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/38 | 3244/13414 | 2898/9354 | 966/3117 | chr1 | 180020672 | ||
chr1:180044147
|
T | C | 1 | a0003c0013 | 2 | NA18971.hp2 NA19012.hp1 |
synonymous_variant | LOW | c.4596T>C | p.Ser1532Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/38 | 4942/13414 | 4596/9354 | 1532/3117 | chr1 | 180044147 | ||
chr1:180053059
|
C | T | 1 | a0002c0022 | 1 | HG01243.hp1 | synonymous_variant | LOW | c.4882C>T | p.Leu1628Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/38 | 5228/13414 | 4882/9354 | 1628/3117 | chr1 | 180053059 | ||
chr1:180075202
|
C | T | 1 | a0002c0007 | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
synonymous_variant | LOW | c.5748C>T | p.Asp1916Asp | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/38 | 6094/13414 | 5748/9354 | 1916/3117 | chr1 | 180075202 | ||
chr1:180093080
|
T | C | 2 | a0006c0006a0009c0010 | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
synonymous_variant | LOW | c.6975T>C | p.Ser2325Ser | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 7321/13414 | 6975/9354 | 2325/3117 | chr1 | 180093080 | ||
chr1:180094391
|
T | C | 1 | a0001c0011 | 2 | HG02165.hp2 NA19062.hp1 |
synonymous_variant | LOW | c.8286T>C | p.Phe2762Phe | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/38 | 8632/13414 | 8286/9354 | 2762/3117 | chr1 | 180094391 | ||
chr1:180111155
|
T | A | 1 | a0007c0008 | 5 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show |
synonymous_variant | LOW | c.9348T>A | p.Leu3116Leu | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 9694/13414 | 9348/9354 | 3116/3117 | chr1 | 180111155 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179954976
|
G | A | 3 | a0007c0008t0006a0007c0008t0011a0007c0031t0006 | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-180G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/38 | 31206 | chr1 | 179954976 | |||||
chr1:180111178
|
C | T | 3 | a0002c0002t0004a0002c0002t0020a0017c0021t0004 | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*17C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 17 | chr1 | 180111178 | |||||
chr1:180111183
|
G | A | 1 | a0012c0012t0009 | 2 | HG03041.hp2 NA21309.hp1 |
3_prime_UTR_variant | MODIFIER | c.*22G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 22 | chr1 | 180111183 | |||||
chr1:180111308
|
A | G | 4 | a0002c0020t0019a0008c0009t0008a0010c0029t0010others(1): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*147A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 147 | chr1 | 180111308 | |||||
chr1:180111494
|
C | T | 3 | a0002c0002t0005a0002c0002t0007a0012c0012t0009 | 14 | HG00639.hp1 HG00733.hp2 HG01069.hp1 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*333C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 333 | chr1 | 180111494 | |||||
chr1:180111504
|
G | A | 1 | a0002c0002t0020 | 1 | HG00558.hp2 | 3_prime_UTR_variant | MODIFIER | c.*343G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 343 | chr1 | 180111504 | |||||
chr1:180111644
|
G | A | 1 | a0001c0001t0012 | 1 | HG02080.hp2 | 3_prime_UTR_variant | MODIFIER | c.*483G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 483 | chr1 | 180111644 | |||||
chr1:180111654
|
T | C | 1 | a0002c0020t0019 | 1 | HG02723.hp1 | 3_prime_UTR_variant | MODIFIER | c.*493T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 493 | chr1 | 180111654 | |||||
chr1:180111795
|
C | T | 1 | a0001c0001t0018 | 1 | HG03669.hp2 | 3_prime_UTR_variant | MODIFIER | c.*634C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 634 | chr1 | 180111795 | |||||
chr1:180112146
|
C | T | 2 | a0010c0029t0010a0022c0028t0010 | 2 | NA19030.hp2 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*985C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 985 | chr1 | 180112146 | |||||
chr1:180112557
|
G | C | 2 | a0010c0029t0010a0022c0028t0010 | 2 | NA19030.hp2 NA19043.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1396G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1396 | chr1 | 180112557 | |||||
chr1:180112604
|
CT | C | 3 | a0002c0002t0004a0002c0002t0020a0017c0021t0004 | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1444delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1444 | chr1 | 180112604 | |||||
chr1:180112721
|
T | A | 3 | a0002c0002t0003a0002c0016t0003a0004c0004t0003 | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*1560T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1560 | chr1 | 180112721 | |||||
chr1:180112980
|
T | C | 4 | a0002c0020t0019a0008c0009t0008a0010c0029t0010others(1): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1819T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1819 | chr1 | 180112980 | |||||
chr1:180113134
|
G | C | 3 | a0007c0008t0006a0007c0008t0011a0007c0031t0006 | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1973G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 1973 | chr1 | 180113134 | |||||
chr1:180113415
|
C | T | 2 | a0002c0002t0007a0012c0012t0009 | 7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2254C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2254 | chr1 | 180113415 | |||||
chr1:180113552
|
A | G | 1 | a0001c0001t0017 | 1 | HG01496.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2391A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2391 | chr1 | 180113552 | |||||
chr1:180113568
|
C | CA | 15 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(12): Show | 96 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(93): Show |
3_prime_UTR_variant | MODIFIER | c.*2416dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2417 | INFO_REALIGN_3_PRIME | chr1 | 180113568 | ||||
chr1:180113699
|
CT | C | 7 | a0002c0002t0004a0002c0002t0015a0002c0002t0020others(4): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*2543delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2543 | INFO_REALIGN_3_PRIME | chr1 | 180113699 | ||||
chr1:180113806
|
T | G | 4 | a0002c0020t0019a0008c0009t0008a0010c0029t0010others(1): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2645T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2645 | chr1 | 180113806 | |||||
chr1:180113843
|
C | A | 4 | a0002c0020t0019a0008c0009t0008a0010c0029t0010others(1): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2682C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2682 | chr1 | 180113843 | |||||
chr1:180113865
|
A | T | 1 | a0001c0001t0014 | 1 | HG01192.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2704A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2704 | chr1 | 180113865 | |||||
chr1:180114145
|
G | T | 1 | a0021c0025t0013 | 1 | HG03490.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2984G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2984 | chr1 | 180114145 | |||||
chr1:180114146
|
A | T | 1 | a0021c0025t0013 | 1 | HG03490.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2985A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2985 | chr1 | 180114146 | |||||
chr1:180114159
|
A | G | 1 | a0002c0002t0016 | 1 | HG02717.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2998A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 2998 | chr1 | 180114159 | |||||
chr1:180114558
|
C | T | 1 | a0007c0008t0011 | 1 | HG00323.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3397C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 38/38 | 3397 | chr1 | 180114558 |
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:179955255
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+113G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955255 | ||||||
chr1:179955329
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+187G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955329 | ||||||
chr1:179955498
|
G | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+356G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955498 | ||||||
chr1:179955639
|
T | C | 4 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(1): Show | 4 | HG01192.hp1 HG02004.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14+497T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955639 | ||||||
chr1:179955712
|
A | G | 4 | a0002c0002t0002g0244a0002c0002t0002g0245a0002c0002t0002g0247others(1): Show | 4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+570A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955712 | ||||||
chr1:179955793
|
A | T | 2 | a0002c0007t0002g0242a0002c0007t0002g0243 | 2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-14+651A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955793 | ||||||
chr1:179955902
|
T | C | 1 | a0002c0022t0002g0002 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.-14+760T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955902 | ||||||
chr1:179955969
|
T | G | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+827T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179955969 | ||||||
chr1:179956078
|
C | A | 1 | a0006c0006t0002g0041 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-14+936C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956078 | ||||||
chr1:179956264
|
T | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+1122T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956264 | ||||||
chr1:179956403
|
A | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-14+1261A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956403 | ||||||
chr1:179956508
|
A | G | 1 | a0001c0001t0001g0241 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.-14+1366A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956508 | ||||||
chr1:179956720
|
T | G | 25 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(22): Show | 25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.-14+1578T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956720 | ||||||
chr1:179956792
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-14+1650C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956792 | ||||||
chr1:179956822
|
CAAGG | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+1684_-14+1687d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179956822 | |||||
chr1:179956938
|
A | T | 1 | a0003c0003t0002g0237 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-14+1796A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179956938 | ||||||
chr1:179957016
|
T | A | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14+1874T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957016 | ||||||
chr1:179957031
|
GTTT | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+1891_-14+1893d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179957031 | |||||
chr1:179957070
|
CACTT | C | 4 | a0001c0001t0001g0233a0001c0001t0001g0234a0001c0001t0001g0235others(1): Show | 4 | NA18943.hp1 NA18949.hp1 NA18961.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+1933_-14+1936d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179957070 | |||||
chr1:179957358
|
G | C | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14+2216G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957358 | ||||||
chr1:179957602
|
A | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+2460A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957602 | ||||||
chr1:179957794
|
T | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+2652T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957794 | ||||||
chr1:179957814
|
C | T | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+2672C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957814 | ||||||
chr1:179957920
|
T | C | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+2778T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179957920 | ||||||
chr1:179958000
|
G | A | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+2858G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958000 | ||||||
chr1:179958180
|
AGT | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+3041_-14+3042d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179958180 | |||||
chr1:179958196
|
T | C | 6 | a0002c0002t0007g0001a0002c0002t0007g0067a0002c0002t0007g0068others(3): Show | 7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.-14+3054T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958196 | ||||||
chr1:179958276
|
C | T | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+3134C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958276 | ||||||
chr1:179958299
|
A | G | 1 | a0001c0001t0001g0227 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.-14+3157A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958299 | ||||||
chr1:179958337
|
G | C | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+3195G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958337 | ||||||
chr1:179958732
|
A | C | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+3590A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958732 | ||||||
chr1:179958739
|
A | T | 1 | a0001c0001t0001g0226 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.-14+3597A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958739 | ||||||
chr1:179958751
|
A | G | 1 | a0003c0003t0002g0225 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.-14+3609A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958751 | ||||||
chr1:179958867
|
G | A | 1 | a0004c0004t0003g0042 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.-14+3725G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179958867 | ||||||
chr1:179959073
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+3931G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959073 | ||||||
chr1:179959188
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+4046G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959188 | ||||||
chr1:179959194
|
C | T | 4 | a0004c0004t0003g0042a0004c0004t0003g0062a0004c0004t0003g0063others(1): Show | 4 | HG01516.hp1 HG01517.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.-14+4052C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959194 | ||||||
chr1:179959447
|
A | C | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+4305A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959447 | ||||||
chr1:179959483
|
G | A | 4 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(1): Show | 4 | HG00323.hp2 HG01175.hp2 HG01261.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+4341G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959483 | ||||||
chr1:179959508
|
A | G | 1 | a0020c0019t0001g0224 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-14+4366A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959508 | ||||||
chr1:179959553
|
C | G | 242 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(239): Show | 243 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(240): Show |
intron_variant | MODIFIER | c.-14+4411C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959553 | ||||||
chr1:179959637
|
C | G | 1 | a0001c0001t0001g0223 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.-14+4495C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959637 | ||||||
chr1:179959686
|
A | G | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+4544A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959686 | ||||||
chr1:179959812
|
CTA | C | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+4673_-14+4674d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179959812 | |||||
chr1:179959850
|
C | A | 1 | a0002c0002t0004g0020 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-14+4708C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179959850 | ||||||
chr1:179959904
|
T | TCTTAAAT others(9): Show |
24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+4765_-14+4780d others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179959904 | |||||
chr1:179959995
|
CA | C | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0018c0018t0001g0039 | 3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-14+4856delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179959995 | |||||
chr1:179960000
|
A | C | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0018c0018t0001g0039 | 3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-14+4858A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960000 | ||||||
chr1:179960093
|
A | G | 8 | a0002c0002t0004g0020a0002c0002t0004g0030a0002c0002t0004g0032others(5): Show | 8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.-14+4951A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960093 | ||||||
chr1:179960217
|
A | G | 1 | a0001c0001t0001g0222 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.-14+5075A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960217 | ||||||
chr1:179960225
|
A | G | 16 | a0001c0001t0001g0209a0001c0001t0001g0210a0001c0001t0001g0211others(13): Show | 16 | HG01099.hp1 HG01496.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.-14+5083A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960225 | ||||||
chr1:179960231
|
A | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+5089A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960231 | ||||||
chr1:179960240
|
A | G | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-14+5098A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960240 | ||||||
chr1:179960253
|
C | A | 25 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(22): Show | 25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.-14+5111C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960253 | ||||||
chr1:179960320
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+5178C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960320 | ||||||
chr1:179960389
|
G | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+5247G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960389 | ||||||
chr1:179960564
|
C | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+5422C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960564 | ||||||
chr1:179960628
|
A | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+5486A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960628 | ||||||
chr1:179960726
|
T | G | 1 | a0003c0003t0002g0079 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.-14+5584T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960726 | ||||||
chr1:179960731
|
T | C | 2 | a0003c0003t0002g0080a0003c0003t0002g0081 | 2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.-14+5589T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960731 | ||||||
chr1:179960942
|
A | G | 5 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205others(2): Show | 5 | HG01168.hp2 HG01192.hp2 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+5800A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179960942 | ||||||
chr1:179961123
|
A | C | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-14+5981A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961123 | ||||||
chr1:179961172
|
G | A | 47 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(44): Show | 47 | HG00544.hp1 HG01261.hp1 HG02015.hp1 others(44): Show |
intron_variant | MODIFIER | c.-14+6030G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961172 | ||||||
chr1:179961184
|
G | T | 1 | a0001c0001t0001g0202 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-14+6042G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961184 | ||||||
chr1:179961261
|
C | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+6119C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961261 | ||||||
chr1:179961305
|
C | T | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-14+6163C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961305 | ||||||
chr1:179961319
|
G | A | 2 | a0007c0008t0006g0013a0007c0008t0006g0014 | 2 | HG01256.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.-14+6177G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961319 | ||||||
chr1:179961321
|
A | G | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.-14+6179A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961321 | ||||||
chr1:179961397
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+6255G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961397 | ||||||
chr1:179961446
|
A | AAAAAT | 3 | a0008c0009t0008g0007a0008c0009t0008g0008a0008c0009t0008g0009 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-14+6323_-14+6327d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179961446 | |||||
chr1:179961554
|
ATTGTT | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+6425_-14+6429d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179961554 | |||||
chr1:179961679
|
G | T | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+6537G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961679 | ||||||
chr1:179961856
|
A | T | 1 | a0001c0001t0001g0221 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.-14+6714A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961856 | ||||||
chr1:179961878
|
C | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-14+6736C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961878 | ||||||
chr1:179961891
|
G | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+6749G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961891 | ||||||
chr1:179961970
|
C | T | 7 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(4): Show | 7 | HG01109.hp1 HG02723.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.-14+6828C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179961970 | ||||||
chr1:179962142
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+7000C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962142 | ||||||
chr1:179962143
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-14+7001G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962143 | ||||||
chr1:179962289
|
C | T | 2 | a0001c0001t0001g0220a0001c0001t0001g0223 | 2 | HG01891.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-14+7147C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962289 | ||||||
chr1:179962314
|
G | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-14+7172G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962314 | ||||||
chr1:179962396
|
TTTTG | T | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-14+7270_-14+7273d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179962396 | |||||
chr1:179962423
|
T | C | 1 | a0001c0001t0001g0146 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.-14+7281T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962423 | ||||||
chr1:179962600
|
G | A | 1 | a0002c0007t0002g0059 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-14+7458G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962600 | ||||||
chr1:179962619
|
A | T | 2 | a0002c0002t0004g0035a0002c0002t0004g0036 | 2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.-14+7477A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962619 | ||||||
chr1:179962810
|
G | GACA | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+7669_-14+7670i others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179962810 | |||||
chr1:179962813
|
T | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+7671T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962813 | ||||||
chr1:179962969
|
C | A | 9 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(6): Show | 9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+7827C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179962969 | ||||||
chr1:179963026
|
C | T | 9 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(6): Show | 9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+7884C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963026 | ||||||
chr1:179963028
|
G | C | 9 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(6): Show | 9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+7886G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963028 | ||||||
chr1:179963050
|
A | C | 246 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(243): Show | 247 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(244): Show |
intron_variant | MODIFIER | c.-14+7908A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963050 | ||||||
chr1:179963115
|
G | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+7973G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963115 | ||||||
chr1:179963125
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+7983C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963125 | ||||||
chr1:179963289
|
G | A | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-14+8147G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963289 | ||||||
chr1:179963516
|
ATTCT | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+8376_-14+8379d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179963516 | |||||
chr1:179963804
|
A | G | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0018c0018t0001g0039 | 3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.-14+8662A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963804 | ||||||
chr1:179963807
|
C | T | 1 | a0001c0001t0001g0201 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.-14+8665C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963807 | ||||||
chr1:179963808
|
A | G | 97 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(94): Show | 97 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.-14+8666A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179963808 | ||||||
chr1:179964284
|
T | A | 1 | a0001c0001t0001g0147 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-14+9142T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179964284 | ||||||
chr1:179964667
|
TA | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+9528delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179964667 | |||||
chr1:179964766
|
C | CT | 26 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(23): Show | 26 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(23): Show |
intron_variant | MODIFIER | c.-14+9637dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179964766 | |||||
chr1:179964766
|
CT | C | 10 | a0001c0001t0001g0148a0001c0001t0001g0201a0002c0002t0002g0003others(7): Show | 10 | HG01099.hp2 HG01243.hp1 HG01256.hp2 others(7): Show |
intron_variant | MODIFIER | c.-14+9637delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179964766 | |||||
chr1:179964959
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+9817G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179964959 | ||||||
chr1:179964981
|
G | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+9839G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179964981 | ||||||
chr1:179965137
|
C | T | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-14+9995C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965137 | ||||||
chr1:179965299
|
C | T | 1 | a0003c0003t0002g0122 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.-14+10157C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965299 | ||||||
chr1:179965615
|
C | CT | 108 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(105): Show | 108 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(105): Show |
intron_variant | MODIFIER | c.-14+10495dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | |||||
chr1:179965615
|
C | CTT | 5 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0199others(2): Show | 5 | HG01258.hp1 NA18946.hp2 NA18990.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+10494_-14+1049 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | |||||
chr1:179965615
|
CT | C | 14 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(11): Show | 14 | HG01109.hp2 HG01123.hp2 HG01167.hp2 others(11): Show |
intron_variant | MODIFIER | c.-14+10495delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | |||||
chr1:179965615
|
CTT | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+10494_-14+1049 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965615 | |||||
chr1:179965618
|
T | C | 1 | a0002c0002t0004g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.-14+10476T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965618 | ||||||
chr1:179965641
|
A | G | 1 | a0003c0003t0002g0116 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.-14+10499A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965641 | ||||||
chr1:179965724
|
G | A | 1 | a0005c0005t0002g0142 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-14+10582G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965724 | ||||||
chr1:179965787
|
A | AT | 18 | a0001c0001t0001g0241a0004c0004t0003g0042a0004c0004t0003g0047others(15): Show | 18 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+10655dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179965787 | |||||
chr1:179965872
|
T | C | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-14+10730T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965872 | ||||||
chr1:179965886
|
A | G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+10744A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179965886 | ||||||
chr1:179966178
|
C | A | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+11036C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966178 | ||||||
chr1:179966280
|
G | A | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.-14+11138G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966280 | ||||||
chr1:179966585
|
A | G | 2 | a0005c0005t0002g0140a0005c0005t0002g0141 | 2 | NA18975.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.-14+11443A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966585 | ||||||
chr1:179966652
|
T | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-14+11510T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966652 | ||||||
chr1:179966761
|
C | G | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-14+11619C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966761 | ||||||
chr1:179966769
|
C | G | 1 | a0001c0001t0001g0219 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-14+11627C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966769 | ||||||
chr1:179966910
|
G | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-14+11768G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966910 | ||||||
chr1:179966993
|
C | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-14+11851C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179966993 | ||||||
chr1:179967011
|
A | T | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-14+11869A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967011 | ||||||
chr1:179967023
|
T | C | 1 | a0003c0003t0002g0083 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-14+11881T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967023 | ||||||
chr1:179967035
|
G | A | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+11893G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967035 | ||||||
chr1:179967081
|
G | A | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+11939G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967081 | ||||||
chr1:179967094
|
T | C | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-14+11952T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967094 | ||||||
chr1:179967097
|
T | G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+11955T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967097 | ||||||
chr1:179967099
|
T | C | 1 | a0001c0001t0001g0156 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-14+11957T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967099 | ||||||
chr1:179967440
|
C | G | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+12298C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967440 | ||||||
chr1:179967444
|
C | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+12302C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967444 | ||||||
chr1:179967504
|
C | T | 9 | a0002c0020t0019g0010a0007c0008t0006g0013a0007c0008t0006g0014others(6): Show | 9 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+12362C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967504 | ||||||
chr1:179967516
|
G | A | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-14+12374G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967516 | ||||||
chr1:179967554
|
G | T | 1 | a0004c0004t0003g0058 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-14+12412G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967554 | ||||||
chr1:179967663
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+12521G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967663 | ||||||
chr1:179967700
|
C | T | 1 | a0023c0030t0001g0218 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.-14+12558C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967700 | ||||||
chr1:179967767
|
A | T | 9 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(6): Show | 9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-14+12625A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967767 | ||||||
chr1:179967854
|
A | G | 3 | a0001c0001t0001g0146a0001c0001t0001g0196a0001c0001t0001g0217 | 3 | HG01928.hp2 NA18953.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.-14+12712A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967854 | ||||||
chr1:179967876
|
T | C | 1 | a0001c0001t0001g0157 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.-14+12734T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967876 | ||||||
chr1:179967920
|
A | G | 1 | a0001c0001t0001g0202 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-14+12778A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179967920 | ||||||
chr1:179968043
|
G | T | 1 | a0001c0001t0001g0145 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.-14+12901G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968043 | ||||||
chr1:179968051
|
G | C | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.-14+12909G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968051 | ||||||
chr1:179968090
|
G | A | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+12948G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968090 | ||||||
chr1:179968332
|
CA | C | 39 | a0001c0001t0001g0154a0002c0002t0002g0003a0002c0002t0002g0004others(36): Show | 39 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(36): Show |
intron_variant | MODIFIER | c.-14+13207delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179968332 | |||||
chr1:179968354
|
A | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-14+13212A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968354 | ||||||
chr1:179968443
|
T | A | 1 | a0013c0027t0002g0084 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.-14+13301T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968443 | ||||||
chr1:179968486
|
G | GAGTC | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-14+13346_-14+1334 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179968486 | |||||
chr1:179968505
|
A | G | 1 | a0001c0001t0001g0216 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.-14+13363A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968505 | ||||||
chr1:179968601
|
C | T | 1 | a0004c0004t0003g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.-14+13459C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968601 | ||||||
chr1:179968639
|
T | C | 1 | a0001c0001t0001g0156 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-14+13497T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968639 | ||||||
chr1:179968864
|
A | T | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-14+13722A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179968864 | ||||||
chr1:179969170
|
G | C | 175 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(172): Show |
intron_variant | MODIFIER | c.-14+14028G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969170 | ||||||
chr1:179969410
|
C | T | 1 | a0001c0001t0012g0195 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-14+14268C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969410 | ||||||
chr1:179969513
|
C | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.-14+14371C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969513 | ||||||
chr1:179969663
|
A | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.-14+14521A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969663 | ||||||
chr1:179969773
|
A | G | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-14+14631A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969773 | ||||||
chr1:179969883
|
T | C | 2 | a0004c0004t0003g0062a0004c0004t0003g0063 | 2 | HG01516.hp1 HG01517.hp1 |
intron_variant | MODIFIER | c.-14+14741T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179969883 | ||||||
chr1:179970034
|
T | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-14+14892T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970034 | ||||||
chr1:179970039
|
G | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-14+14897G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970039 | ||||||
chr1:179970123
|
G | T | 1 | a0001c0001t0001g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.-14+14981G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970123 | ||||||
chr1:179970160
|
G | A | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-14+15018G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970160 | ||||||
chr1:179970256
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+15114G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970256 | ||||||
chr1:179970360
|
A | C | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.-14+15218A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970360 | ||||||
chr1:179970419
|
G | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-14+15277G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970419 | ||||||
chr1:179970497
|
A | G | 1 | a0003c0003t0002g0113 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.-14+15355A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970497 | ||||||
chr1:179970565
|
G | GATCTGAT others(28): Show |
1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-14+15437_-14+1543 others(39): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179970565 | |||||
chr1:179970582
|
A | G | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-14+15440A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970582 | ||||||
chr1:179970631
|
A | T | 1 | a0005c0005t0002g0139 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.-14+15489A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970631 | ||||||
chr1:179970679
|
A | G | 3 | a0001c0001t0001g0153a0001c0001t0001g0193a0001c0001t0001g0194 | 3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.-13-15490A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970679 | ||||||
chr1:179970830
|
T | C | 8 | a0001c0001t0001g0038a0001c0001t0001g0040a0002c0007t0002g0059others(5): Show | 8 | HG02004.hp2 HG02258.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.-13-15339T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970830 | ||||||
chr1:179970878
|
G | C | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-15291G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970878 | ||||||
chr1:179970883
|
C | G | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-13-15286C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970883 | ||||||
chr1:179970900
|
A | C | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-13-15269A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970900 | ||||||
chr1:179970912
|
A | G | 1 | a0005c0005t0002g0138 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-13-15257A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179970912 | ||||||
chr1:179970963
|
TGTTA | T | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-15202_-13-1519 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179970963 | |||||
chr1:179971004
|
AAAT | A | 4 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(1): Show | 4 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.-13-15159_-13-1515 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971004 | |||||
chr1:179971026
|
TTG | T | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15141_-13-1514 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971026 | |||||
chr1:179971031
|
T | G | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15138T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971031 | ||||||
chr1:179971032
|
G | GT | 48 | a0001c0001t0001g0073a0001c0001t0001g0190a0001c0001t0001g0191others(45): Show | 48 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(45): Show |
intron_variant | MODIFIER | c.-13-15123dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971032 | |||||
chr1:179971032
|
G | T | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15137G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971032 | ||||||
chr1:179971038
|
T | G | 1 | a0003c0003t0002g0085 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.-13-15131T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971038 | ||||||
chr1:179971051
|
CAG | C | 3 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0189 | 3 | NA18612.hp2 NA18947.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.-13-15115_-13-1511 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971051 | |||||
chr1:179971169
|
C | T | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-15000C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971169 | ||||||
chr1:179971203
|
A | T | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-13-14966A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971203 | ||||||
chr1:179971244
|
G | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-14925G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971244 | ||||||
chr1:179971497
|
A | AT | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-13-14663dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179971497 | |||||
chr1:179971590
|
C | T | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-14579C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179971590 | ||||||
chr1:179972079
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-14090C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972079 | ||||||
chr1:179972094
|
C | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.-13-14075C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972094 | ||||||
chr1:179972253
|
C | T | 2 | a0005c0005t0002g0127a0005c0005t0002g0137 | 2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.-13-13916C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972253 | ||||||
chr1:179972254
|
G | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-13915G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972254 | ||||||
chr1:179972261
|
G | A | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.-13-13908G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972261 | ||||||
chr1:179972304
|
C | T | 2 | a0003c0013t0002g0110a0003c0013t0002g0111 | 2 | NA18971.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.-13-13865C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972304 | ||||||
chr1:179972481
|
G | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-13688G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972481 | ||||||
chr1:179972652
|
A | G | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-13-13517A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972652 | ||||||
chr1:179972788
|
A | G | 1 | a0001c0001t0001g0215 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.-13-13381A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972788 | ||||||
chr1:179972870
|
CT | C | 12 | a0001c0001t0001g0073a0001c0001t0001g0196a0002c0002t0002g0003others(9): Show | 12 | HG01243.hp1 HG01346.hp1 HG01517.hp2 others(9): Show |
intron_variant | MODIFIER | c.-13-13283delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179972870 | |||||
chr1:179972953
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-13216C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972953 | ||||||
chr1:179972997
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-13172A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179972997 | ||||||
chr1:179973039
|
T | A | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-13130T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973039 | ||||||
chr1:179973043
|
A | G | 3 | a0002c0002t0002g0245a0002c0002t0002g0247a0002c0002t0016g0246 | 3 | HG02109.hp1 HG02486.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-13-13126A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973043 | ||||||
chr1:179973050
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-13119G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973050 | ||||||
chr1:179973099
|
C | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.-13-13070C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973099 | ||||||
chr1:179973154
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-13-13015A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973154 | ||||||
chr1:179973220
|
A | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.-13-12949A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973220 | ||||||
chr1:179973232
|
T | C | 1 | a0003c0003t0002g0087 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-13-12937T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973232 | ||||||
chr1:179973253
|
T | C | 175 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(172): Show |
intron_variant | MODIFIER | c.-13-12916T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973253 | ||||||
chr1:179973299
|
T | A | 1 | a0002c0002t0002g0003 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-13-12870T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973299 | ||||||
chr1:179973318
|
A | G | 1 | a0001c0001t0001g0189 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.-13-12851A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973318 | ||||||
chr1:179973545
|
G | A | 1 | a0001c0001t0001g0202 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-13-12624G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973545 | ||||||
chr1:179973556
|
G | A | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-13-12613G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973556 | ||||||
chr1:179973560
|
T | C | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.-13-12609T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973560 | ||||||
chr1:179973596
|
A | G | 10 | a0005c0005t0002g0126a0005c0005t0002g0127a0005c0005t0002g0137others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.-13-12573A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973596 | ||||||
chr1:179973685
|
T | G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-13-12484T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179973685 | ||||||
chr1:179974045
|
G | GT | 5 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0220others(2): Show | 5 | HG01891.hp2 HG02129.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-12114dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179974045 | |||||
chr1:179974053
|
T | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-12116T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974053 | ||||||
chr1:179974056
|
G | T | 92 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(89): Show | 92 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(89): Show |
intron_variant | MODIFIER | c.-13-12113G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974056 | ||||||
chr1:179974101
|
AT | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-13-12067delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974101 | ||||||
chr1:179974125
|
A | C | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-12044A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974125 | ||||||
chr1:179974172
|
C | T | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-11997C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974172 | ||||||
chr1:179974297
|
G | A | 6 | a0004c0004t0003g0042a0004c0004t0003g0049a0004c0004t0003g0052others(3): Show | 6 | HG01516.hp1 HG01517.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.-13-11872G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974297 | ||||||
chr1:179974476
|
A | AAGAT | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-11691_-13-1168 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179974476 | |||||
chr1:179974486
|
C | T | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-13-11683C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974486 | ||||||
chr1:179974538
|
A | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-11631A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974538 | ||||||
chr1:179974695
|
T | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-11474T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179974695 | ||||||
chr1:179975045
|
A | G | 1 | a0003c0003t0002g0109 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-13-11124A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975045 | ||||||
chr1:179975144
|
A | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-11025A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975144 | ||||||
chr1:179975379
|
T | A | 2 | a0001c0001t0001g0159a0001c0001t0001g0197 | 2 | HG00544.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.-13-10790T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975379 | ||||||
chr1:179975582
|
TAAAG | T | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.-13-10583_-13-1058 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179975582 | |||||
chr1:179975711
|
G | C | 6 | a0002c0002t0007g0001a0002c0002t0007g0067a0002c0002t0007g0068others(3): Show | 7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.-13-10458G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975711 | ||||||
chr1:179975764
|
G | C | 1 | a0001c0001t0017g0208 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.-13-10405G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975764 | ||||||
chr1:179975766
|
G | A | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.-13-10403G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975766 | ||||||
chr1:179975793
|
A | C | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.-13-10376A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975793 | ||||||
chr1:179975995
|
A | C | 4 | a0002c0002t0005g0125a0002c0002t0005g0134a0002c0002t0005g0135others(1): Show | 4 | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-10174A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179975995 | ||||||
chr1:179976138
|
G | A | 1 | a0004c0004t0003g0053 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-13-10031G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976138 | ||||||
chr1:179976231
|
G | GA | 90 | a0001c0001t0001g0037a0001c0001t0001g0070a0001c0001t0001g0071others(87): Show | 90 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(87): Show |
intron_variant | MODIFIER | c.-13-9929dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976231 | |||||
chr1:179976255
|
A | G | 2 | a0001c0001t0001g0185a0001c0001t0001g0226 | 2 | HG01496.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.-13-9914A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976255 | ||||||
chr1:179976350
|
TAAAAG | T | 26 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(23): Show | 26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.-13-9814_-13-9810d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976350 | |||||
chr1:179976464
|
T | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-9705T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976464 | ||||||
chr1:179976486
|
T | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-9683T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976486 | ||||||
chr1:179976598
|
G | A | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-9571G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976598 | ||||||
chr1:179976632
|
C | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-9537C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976632 | ||||||
chr1:179976651
|
C | CA | 7 | a0001c0001t0001g0070a0007c0008t0006g0013a0007c0008t0006g0014others(4): Show | 7 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(4): Show |
intron_variant | MODIFIER | c.-13-9504dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976651 | |||||
chr1:179976651
|
CA | C | 10 | a0002c0020t0019g0010a0005c0005t0002g0127a0008c0009t0008g0007others(7): Show | 10 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(7): Show |
intron_variant | MODIFIER | c.-13-9504delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179976651 | |||||
chr1:179976703
|
T | C | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.-13-9466T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976703 | ||||||
chr1:179976711
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-9458G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976711 | ||||||
chr1:179976886
|
G | T | 3 | a0002c0002t0002g0245a0002c0002t0002g0247a0002c0002t0016g0246 | 3 | HG02109.hp1 HG02486.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-13-9283G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179976886 | ||||||
chr1:179977080
|
C | T | 1 | a0002c0002t0020g0034 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.-13-9089C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977080 | ||||||
chr1:179977141
|
G | T | 33 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(30): Show | 33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.-13-9028G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977141 | ||||||
chr1:179977171
|
G | C | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-8998G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977171 | ||||||
chr1:179977667
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-13-8502T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977667 | ||||||
chr1:179977711
|
A | G | 1 | a0004c0004t0003g0052 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.-13-8458A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179977711 | ||||||
chr1:179977817
|
CTT | C | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-8349_-13-8348d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179977817 | |||||
chr1:179978026
|
A | G | 21 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(18): Show | 21 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(18): Show |
intron_variant | MODIFIER | c.-13-8143A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978026 | ||||||
chr1:179978149
|
C | T | 1 | a0001c0001t0012g0195 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.-13-8020C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978149 | ||||||
chr1:179978284
|
A | G | 17 | a0001c0001t0001g0241a0004c0004t0003g0042a0004c0004t0003g0047others(14): Show | 17 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(14): Show |
intron_variant | MODIFIER | c.-13-7885A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978284 | ||||||
chr1:179978441
|
G | A | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.-13-7728G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978441 | ||||||
chr1:179978485
|
T | C | 1 | a0005c0005t0002g0140 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.-13-7684T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978485 | ||||||
chr1:179978552
|
C | T | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-13-7617C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978552 | ||||||
chr1:179978656
|
T | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-7513T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179978656 | ||||||
chr1:179979148
|
G | C | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-13-7021G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979148 | ||||||
chr1:179979377
|
G | T | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.-13-6792G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979377 | ||||||
chr1:179979390
|
G | GT | 85 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0147others(82): Show | 85 | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.-13-6764dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr1 | 179979390 | |||||
chr1:179979457
|
G | A | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-6712G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979457 | ||||||
chr1:179979478
|
C | T | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.-13-6691C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979478 | ||||||
chr1:179979662
|
A | G | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-13-6507A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979662 | ||||||
chr1:179979718
|
T | C | 2 | a0001c0011t0001g0149a0001c0011t0001g0158 | 2 | HG02165.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.-13-6451T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979718 | ||||||
chr1:179979728
|
T | C | 179 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(176): Show | 179 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(176): Show |
intron_variant | MODIFIER | c.-13-6441T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979728 | ||||||
chr1:179979766
|
G | A | 33 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(30): Show | 33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.-13-6403G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979766 | ||||||
chr1:179979805
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-6364A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979805 | ||||||
chr1:179979812
|
A | G | 2 | a0005c0005t0002g0142a0005c0005t0002g0144 | 2 | HG03669.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.-13-6357A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979812 | ||||||
chr1:179979856
|
T | C | 1 | a0002c0002t0002g0075 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.-13-6313T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979856 | ||||||
chr1:179979907
|
G | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.-13-6262G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179979907 | ||||||
chr1:179980679
|
A | G | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-5490A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179980679 | ||||||
chr1:179980987
|
A | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-5182A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179980987 | ||||||
chr1:179981652
|
A | G | 1 | a0001c0001t0001g0207 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-13-4517A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179981652 | ||||||
chr1:179981762
|
CTGAGGTG others(107): Show |
C | 1 | a0001c0001t0001g0161 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.-13-4406_-13-4293d others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179981762 | ||||||
chr1:179981979
|
A | G | 139 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(136): Show |
intron_variant | MODIFIER | c.-13-4190A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179981979 | ||||||
chr1:179982035
|
A | C | 3 | a0002c0002t0004g0025a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG03130.hp1 HG03579.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.-13-4134A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982035 | ||||||
chr1:179982098
|
A | G | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.-13-4071A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982098 | ||||||
chr1:179982283
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-13-3886A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982283 | ||||||
chr1:179982366
|
G | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-13-3803G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982366 | ||||||
chr1:179982585
|
T | C | 2 | a0011c0014t0002g0088a0011c0014t0002g0089 | 2 | NA18956.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.-13-3584T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982585 | ||||||
chr1:179982614
|
T | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-3555T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179982614 | ||||||
chr1:179983079
|
G | A | 73 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(70): Show | 73 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(70): Show |
intron_variant | MODIFIER | c.-13-3090G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983079 | ||||||
chr1:179983094
|
G | A | 1 | a0001c0001t0001g0233 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-13-3075G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983094 | ||||||
chr1:179983330
|
G | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-13-2839G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983330 | ||||||
chr1:179983396
|
G | A | 1 | a0001c0001t0001g0168 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.-13-2773G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983396 | ||||||
chr1:179983936
|
A | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-13-2233A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179983936 | ||||||
chr1:179984291
|
C | T | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.-13-1878C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984291 | ||||||
chr1:179984301
|
G | C | 90 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(87): Show | 90 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(87): Show |
intron_variant | MODIFIER | c.-13-1868G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984301 | ||||||
chr1:179984418
|
C | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.-13-1751C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984418 | ||||||
chr1:179984475
|
A | G | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.-13-1694A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984475 | ||||||
chr1:179984527
|
C | A | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-1642C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984527 | ||||||
chr1:179984541
|
G | A | 1 | a0004c0004t0003g0050 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-13-1628G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984541 | ||||||
chr1:179984587
|
C | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-1582C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984587 | ||||||
chr1:179984603
|
A | T | 1 | a0001c0001t0014g0206 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-13-1566A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984603 | ||||||
chr1:179984827
|
C | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-1342C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984827 | ||||||
chr1:179984888
|
A | G | 10 | a0005c0005t0002g0126a0005c0005t0002g0127a0005c0005t0002g0137others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.-13-1281A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179984888 | ||||||
chr1:179985018
|
A | G | 1 | a0001c0001t0001g0212 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-13-1151A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985018 | ||||||
chr1:179985082
|
A | G | 1 | a0003c0003t0002g0109 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.-13-1087A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985082 | ||||||
chr1:179985178
|
A | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.-13-991A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985178 | ||||||
chr1:179985298
|
C | A | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.-13-871C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985298 | ||||||
chr1:179985317
|
G | T | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.-13-852G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985317 | ||||||
chr1:179985426
|
G | A | 1 | a0001c0001t0001g0070 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-13-743G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985426 | ||||||
chr1:179985506
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-663A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985506 | ||||||
chr1:179985696
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.-13-473G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985696 | ||||||
chr1:179985698
|
C | T | 5 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0215others(2): Show | 5 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.-13-471C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985698 | ||||||
chr1:179985769
|
CT | C | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.-13-399delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 1/37 | chr1 | 179985769 | ||||||
chr1:179986334
|
T | G | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.73+80T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986334 | ||||||
chr1:179986358
|
A | G | 2 | a0010c0015t0002g0132a0010c0015t0002g0133 | 2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.73+104A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986358 | ||||||
chr1:179986383
|
C | T | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.73+129C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986383 | ||||||
chr1:179986526
|
T | C | 1 | a0001c0001t0001g0071 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.73+272T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986526 | ||||||
chr1:179986777
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.74-463C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986777 | ||||||
chr1:179986881
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.74-359A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179986881 | ||||||
chr1:179987016
|
CTGTT | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.74-222_74-219delGT others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr1 | 179987016 | |||||
chr1:179987084
|
C | T | 9 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(6): Show | 9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.74-156C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179987084 | ||||||
chr1:179987220
|
AAT | A | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.74-17_74-16delAT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr1 | 179987220 | |||||
chr1:179987224
|
T | C | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.74-16T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 2/37 | chr1 | 179987224 | ||||||
chr1:179987338
|
TGTTATGA others(7): Show |
T | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.120+54_120+67delTT others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179987338 | |||||
chr1:179987357
|
A | T | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.120+71A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987357 | ||||||
chr1:179987358
|
A | T | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.120+72A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987358 | ||||||
chr1:179987362
|
G | T | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.120+76G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987362 | ||||||
chr1:179987427
|
A | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+141A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987427 | ||||||
chr1:179987487
|
A | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.120+201A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987487 | ||||||
chr1:179987581
|
A | G | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.120+295A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987581 | ||||||
chr1:179987705
|
T | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.120+419T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987705 | ||||||
chr1:179987719
|
G | A | 4 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(1): Show | 4 | HG01192.hp1 HG02004.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.120+433G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179987719 | ||||||
chr1:179988192
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+906G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988192 | ||||||
chr1:179988198
|
G | A | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.120+912G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988198 | ||||||
chr1:179988246
|
A | G | 1 | a0002c0002t0005g0136 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.120+960A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988246 | ||||||
chr1:179988296
|
C | CA | 11 | a0001c0001t0001g0145a0001c0001t0001g0222a0002c0002t0002g0244others(8): Show | 11 | HG01074.hp2 HG01123.hp1 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.120+1028dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179988296 | |||||
chr1:179988296
|
C | CAA | 5 | a0008c0009t0008g0007a0008c0009t0008g0008a0008c0009t0008g0009others(2): Show | 5 | HG02809.hp1 HG03453.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.120+1027_120+1028d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179988296 | |||||
chr1:179988296
|
CA | C | 21 | a0001c0001t0001g0071a0001c0001t0001g0184a0002c0002t0004g0020others(18): Show | 21 | HG00323.hp2 HG00558.hp2 HG00597.hp1 others(18): Show |
intron_variant | MODIFIER | c.120+1028delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179988296 | |||||
chr1:179988575
|
T | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+1289T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988575 | ||||||
chr1:179988612
|
G | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.120+1326G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988612 | ||||||
chr1:179988672
|
T | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.120+1386T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988672 | ||||||
chr1:179988905
|
C | T | 1 | a0001c0001t0001g0156 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.121-1602C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179988905 | ||||||
chr1:179989041
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.121-1466G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989041 | ||||||
chr1:179989121
|
T | A | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.121-1386T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989121 | ||||||
chr1:179989274
|
G | A | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.121-1233G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989274 | ||||||
chr1:179989373
|
T | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-1134T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989373 | ||||||
chr1:179989460
|
G | A | 3 | a0008c0009t0008g0007a0008c0009t0008g0008a0008c0009t0008g0009 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.121-1047G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989460 | ||||||
chr1:179989482
|
C | CA | 115 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(112): Show | 115 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(112): Show |
intron_variant | MODIFIER | c.121-1008dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179989482 | |||||
chr1:179989482
|
C | CAA | 10 | a0001c0001t0001g0072a0001c0001t0001g0151a0001c0001t0001g0169others(7): Show | 10 | HG01175.hp2 HG01243.hp1 HG01243.hp2 others(7): Show |
intron_variant | MODIFIER | c.121-1009_121-1008d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr1 | 179989482 | |||||
chr1:179989605
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-902G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989605 | ||||||
chr1:179989674
|
T | C | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.121-833T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989674 | ||||||
chr1:179989689
|
T | C | 1 | a0001c0001t0001g0185 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.121-818T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989689 | ||||||
chr1:179989743
|
T | C | 7 | a0002c0002t0005g0123a0002c0002t0005g0124a0002c0002t0005g0125others(4): Show | 7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.121-764T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989743 | ||||||
chr1:179989759
|
A | G | 5 | a0001c0001t0001g0185a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG01496.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-748A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989759 | ||||||
chr1:179989772
|
T | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-735T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989772 | ||||||
chr1:179989796
|
T | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.121-711T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179989796 | ||||||
chr1:179990162
|
C | T | 21 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(18): Show | 21 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(18): Show |
intron_variant | MODIFIER | c.121-345C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 3/37 | chr1 | 179990162 | ||||||
chr1:179990899
|
G | A | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.235+278G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179990899 | ||||||
chr1:179990969
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.235+348A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179990969 | ||||||
chr1:179991008
|
G | GTAGA | 4 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0215others(1): Show | 4 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.235+389_235+392dup others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991008 | |||||
chr1:179991013
|
T | C | 5 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(2): Show | 5 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.235+392T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991013 | ||||||
chr1:179991127
|
A | AT | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.235+517dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991127 | |||||
chr1:179991234
|
T | C | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.235+613T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991234 | ||||||
chr1:179991275
|
G | T | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.235+654G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991275 | ||||||
chr1:179991314
|
C | CT | 23 | a0001c0001t0001g0160a0001c0001t0001g0181a0001c0001t0001g0182others(20): Show | 23 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.235+713dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991314 | |||||
chr1:179991314
|
C | CTT | 10 | a0002c0002t0004g0023a0002c0002t0004g0024a0002c0002t0004g0030others(7): Show | 10 | HG00738.hp1 HG01168.hp1 HG01169.hp1 others(7): Show |
intron_variant | MODIFIER | c.235+712_235+713dup others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991314 | |||||
chr1:179991317
|
T | TTC | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.235+697_235+698ins others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991317 | |||||
chr1:179991318
|
T | TC | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.235+697_235+698ins others(1): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991318 | ||||||
chr1:179991319
|
T | C | 10 | a0005c0005t0002g0126a0005c0005t0002g0127a0005c0005t0002g0137others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.235+698T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991319 | ||||||
chr1:179991322
|
T | C | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.235+701T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991322 | ||||||
chr1:179991356
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.236-706G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991356 | ||||||
chr1:179991419
|
C | T | 16 | a0002c0020t0019g0010a0005c0005t0002g0126a0005c0005t0002g0127others(13): Show | 16 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(13): Show |
intron_variant | MODIFIER | c.236-643C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991419 | ||||||
chr1:179991437
|
G | A | 6 | a0002c0002t0007g0001a0002c0002t0007g0067a0002c0002t0007g0068others(3): Show | 7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.236-625G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991437 | ||||||
chr1:179991632
|
A | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.236-430A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991632 | ||||||
chr1:179991652
|
T | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.236-410T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991652 | ||||||
chr1:179991655
|
GTA | G | 8 | a0002c0002t0002g0078a0002c0002t0004g0030a0002c0002t0004g0035others(5): Show | 8 | HG00558.hp2 HG00597.hp1 HG01168.hp1 others(5): Show |
intron_variant | MODIFIER | c.236-395_236-394del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991655 | |||||
chr1:179991663
|
A | G | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.236-399A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991663 | ||||||
chr1:179991665
|
A | ATG | 3 | a0002c0002t0004g0029a0007c0008t0006g0018a0007c0008t0011g0016 | 3 | HG00323.hp1 HG01109.hp2 HG01123.hp2 |
intron_variant | MODIFIER | c.236-396_236-395ins others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991665 | |||||
chr1:179991665
|
A | G | 3 | a0007c0031t0006g0017a0010c0029t0010g0011a0022c0028t0010g0012 | 3 | HG00738.hp2 NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.236-397A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991665 | ||||||
chr1:179991667
|
A | ATATGTGT others(3): Show |
1 | a0001c0001t0001g0202 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.236-394_236-393ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | ATATGTGT others(7): Show |
1 | a0019c0017t0001g0162 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.236-394_236-393ins others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | ATG | 6 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(3): Show | 6 | HG02055.hp1 HG02451.hp2 HG02615.hp1 others(3): Show |
intron_variant | MODIFIER | c.236-355_236-354dup others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | ATGTG | 12 | a0001c0001t0001g0198a0002c0002t0002g0244a0002c0002t0002g0245others(9): Show | 12 | HG01099.hp2 HG01258.hp1 HG02040.hp1 others(9): Show |
intron_variant | MODIFIER | c.236-357_236-354dup others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | ATGTGTG | 44 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0234others(41): Show | 44 | HG00544.hp1 HG01261.hp1 HG02004.hp2 others(41): Show |
intron_variant | MODIFIER | c.236-359_236-354dup others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | ATGTGTGT others(1): Show |
14 | a0001c0001t0001g0159a0002c0002t0005g0124a0002c0002t0005g0125others(11): Show | 15 | HG00544.hp2 HG00639.hp1 HG01069.hp1 others(12): Show |
intron_variant | MODIFIER | c.236-361_236-354dup others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | ATGTGTGT others(3): Show |
9 | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0161others(6): Show | 9 | HG00733.hp2 HG01175.hp2 HG01261.hp2 others(6): Show |
intron_variant | MODIFIER | c.236-363_236-354dup others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | ATGTGTGT others(5): Show |
2 | a0001c0001t0001g0157a0002c0002t0007g0069 | 2 | HG02895.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.236-365_236-354dup others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
A | G | 36 | a0001c0001t0001g0148a0001c0001t0001g0160a0001c0001t0001g0167others(33): Show | 36 | HG00323.hp1 HG00738.hp1 HG00738.hp2 others(33): Show |
intron_variant | MODIFIER | c.236-395A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991667 | ||||||
chr1:179991667
|
ATG | A | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG02615.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-355_236-354del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
ATGTGTG | A | 3 | a0002c0002t0002g0076a0002c0002t0002g0128a0012c0012t0009g0065 | 3 | HG02698.hp2 HG03041.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.236-359_236-354del others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
ATGTGTGT others(5): Show |
A | 1 | a0001c0001t0001g0203 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.236-365_236-354del others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991667
|
ATGTGTGT others(9): Show |
A | 1 | a0001c0001t0001g0220 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.236-369_236-354del others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991667 | |||||
chr1:179991705
|
G | A | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-357G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991705 | ||||||
chr1:179991707
|
G | A | 16 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0001g0220others(13): Show | 16 | HG00733.hp1 HG01168.hp2 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.236-355G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991707 | ||||||
chr1:179991707
|
G | GTGTA | 3 | a0001c0001t0001g0037a0001c0001t0001g0184a0001c0001t0014g0206 | 3 | HG01167.hp1 HG01192.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.236-354_236-353ins others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTA | 9 | a0001c0001t0001g0148a0001c0001t0001g0167a0001c0001t0001g0170others(6): Show | 9 | HG01109.hp1 HG02004.hp1 HG02040.hp2 others(6): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTAT others(3): Show |
3 | a0005c0005t0002g0139a0005c0005t0002g0142a0005c0005t0002g0144 | 3 | HG01891.hp1 HG03669.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.236-354_236-353ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTGT others(1): Show |
25 | a0001c0001t0001g0151a0001c0001t0001g0152a0001c0001t0001g0154others(22): Show | 25 | HG00558.hp1 HG01069.hp2 HG01099.hp1 others(22): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTGT others(3): Show |
8 | a0001c0001t0001g0145a0001c0001t0001g0174a0001c0001t0001g0175others(5): Show | 8 | HG02165.hp2 NA18612.hp2 NA18947.hp2 others(5): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTGT others(5): Show |
2 | a0005c0005t0002g0127a0005c0005t0002g0137 | 2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.236-354_236-353ins others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTGT others(7): Show |
1 | a0005c0005t0002g0126 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.236-354_236-353ins others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTGT others(3): Show |
29 | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0150others(26): Show | 29 | HG00323.hp2 HG00639.hp2 HG01123.hp1 others(26): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTGT others(5): Show |
1 | a0001c0011t0001g0149 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.236-354_236-353ins others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
G | GTGTGTGT others(5): Show |
11 | a0001c0001t0001g0146a0001c0001t0001g0147a0001c0001t0001g0168others(8): Show | 11 | HG00597.hp2 HG01928.hp2 HG02080.hp2 others(8): Show |
intron_variant | MODIFIER | c.236-354_236-353ins others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
GTA | G | 3 | a0002c0002t0002g0004a0002c0002t0002g0005a0002c0022t0002g0002 | 3 | HG01243.hp1 HG03041.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.236-338_236-337del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
GTATA | G | 4 | a0008c0009t0008g0007a0009c0010t0002g0238a0009c0010t0002g0239others(1): Show | 4 | HG02809.hp1 HG02818.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.236-340_236-337del others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
GTATATAT others(1): Show |
G | 3 | a0002c0020t0019g0010a0008c0009t0008g0008a0010c0029t0010g0011 | 3 | HG02723.hp1 HG03453.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.236-344_236-337del others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991707
|
GTATATAT others(3): Show |
G | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.236-346_236-337del others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr1 | 179991707 | |||||
chr1:179991709
|
A | G | 35 | a0002c0002t0002g0003a0002c0002t0002g0078a0002c0002t0002g0131others(32): Show | 35 | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(32): Show |
intron_variant | MODIFIER | c.236-353A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991709 | ||||||
chr1:179991711
|
A | G | 13 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(10): Show | 13 | HG00558.hp2 HG00597.hp1 HG01168.hp1 others(10): Show |
intron_variant | MODIFIER | c.236-351A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991711 | ||||||
chr1:179991713
|
A | G | 5 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(2): Show | 5 | HG02055.hp1 HG02129.hp1 HG02451.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-349A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991713 | ||||||
chr1:179991715
|
A | G | 2 | a0008c0009t0008g0007a0008c0009t0008g0009 | 2 | HG02809.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.236-347A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991715 | ||||||
chr1:179991717
|
A | G | 5 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(2): Show | 5 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.236-345A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991717 | ||||||
chr1:179991719
|
A | G | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.236-343A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991719 | ||||||
chr1:179991746
|
G | A | 4 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(1): Show | 4 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.236-316G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991746 | ||||||
chr1:179991750
|
G | T | 1 | a0001c0001t0001g0156 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.236-312G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991750 | ||||||
chr1:179991905
|
A | G | 16 | a0004c0004t0003g0042a0004c0004t0003g0047a0004c0004t0003g0048others(13): Show | 16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.236-157A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 4/37 | chr1 | 179991905 | ||||||
chr1:179992229
|
T | C | 7 | a0001c0001t0001g0146a0001c0001t0001g0151a0001c0001t0001g0196others(4): Show | 7 | HG01258.hp1 HG01928.hp2 NA18946.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.395+8T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992229 | ||||||
chr1:179992233
|
GA | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.395+22delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179992233 | |||||
chr1:179992332
|
A | G | 2 | a0003c0003t0002g0080a0003c0003t0002g0081 | 2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.395+111A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992332 | ||||||
chr1:179992574
|
T | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.395+353T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992574 | ||||||
chr1:179992615
|
G | C | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.395+394G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992615 | ||||||
chr1:179992695
|
G | A | 1 | a0024c0032t0002g0130 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.395+474G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992695 | ||||||
chr1:179992700
|
C | A | 1 | a0001c0001t0001g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.395+479C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992700 | ||||||
chr1:179992933
|
A | C | 1 | a0002c0002t0003g0045 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.395+712A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179992933 | ||||||
chr1:179993280
|
T | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.395+1059T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993280 | ||||||
chr1:179993633
|
AGGGTGGT others(12): Show |
A | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.395+1434_395+1452d others(21): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179993633 | |||||
chr1:179993713
|
GA | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.395+1493delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993713 | ||||||
chr1:179993829
|
T | G | 1 | a0002c0002t0005g0134 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.395+1608T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993829 | ||||||
chr1:179993901
|
A | G | 1 | a0003c0003t0002g0103 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.395+1680A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179993901 | ||||||
chr1:179994022
|
C | G | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.395+1801C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994022 | ||||||
chr1:179994456
|
C | CT | 26 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(23): Show | 26 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(23): Show |
intron_variant | MODIFIER | c.396-2082dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179994456 | |||||
chr1:179994456
|
C | CTT | 6 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(3): Show | 6 | HG01243.hp1 HG02698.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-2083_396-2082d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179994456 | |||||
chr1:179994776
|
A | G | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.396-1777A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994776 | ||||||
chr1:179994874
|
T | C | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.396-1679T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994874 | ||||||
chr1:179994940
|
G | A | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.396-1613G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179994940 | ||||||
chr1:179995015
|
A | G | 1 | a0002c0002t0004g0022 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.396-1538A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995015 | ||||||
chr1:179995024
|
C | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.396-1529C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995024 | ||||||
chr1:179995027
|
C | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.396-1526C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995027 | ||||||
chr1:179995082
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-1471C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995082 | ||||||
chr1:179995223
|
A | AC | 3 | a0001c0001t0001g0147a0001c0001t0001g0227a0001c0033t0001g0176 | 3 | NA18995.hp2 NA19002.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.396-1329dupC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr1 | 179995223 | |||||
chr1:179995530
|
G | A | 7 | a0002c0002t0015g0019a0002c0020t0019g0010a0008c0009t0008g0007others(4): Show | 7 | HG02572.hp1 HG02723.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.396-1023G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995530 | ||||||
chr1:179995551
|
G | A | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.396-1002G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995551 | ||||||
chr1:179995744
|
A | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.396-809A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995744 | ||||||
chr1:179995799
|
C | A | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-754C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995799 | ||||||
chr1:179995891
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.396-662C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995891 | ||||||
chr1:179995898
|
A | G | 4 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(1): Show | 4 | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.396-655A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179995898 | ||||||
chr1:179996002
|
G | A | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.396-551G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179996002 | ||||||
chr1:179996091
|
T | G | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.396-462T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 5/37 | chr1 | 179996091 | ||||||
chr1:179997308
|
G | A | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1018+133G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997308 | ||||||
chr1:179997367
|
C | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+192C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997367 | ||||||
chr1:179997404
|
G | A | 1 | a0002c0002t0002g0247 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1018+229G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997404 | ||||||
chr1:179997522
|
C | T | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1018+347C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997522 | ||||||
chr1:179997543
|
C | CA | 20 | a0001c0001t0001g0213a0001c0001t0001g0214a0002c0002t0002g0003others(17): Show | 20 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(17): Show |
intron_variant | MODIFIER | c.1018+386dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179997543 | |||||
chr1:179997543
|
C | CAA | 19 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(16): Show | 19 | HG00558.hp2 HG00738.hp1 HG00738.hp2 others(16): Show |
intron_variant | MODIFIER | c.1018+385_1018+386d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179997543 | |||||
chr1:179997584
|
A | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1018+409A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997584 | ||||||
chr1:179997918
|
A | G | 1 | a0001c0033t0001g0176 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.1018+743A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179997918 | ||||||
chr1:179998009
|
CT | C | 163 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(160): Show | 163 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(160): Show |
intron_variant | MODIFIER | c.1018+847delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998009 | |||||
chr1:179998220
|
G | C | 4 | a0002c0002t0002g0244a0002c0002t0002g0245a0002c0002t0002g0247others(1): Show | 4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.1018+1045G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998220 | ||||||
chr1:179998248
|
G | A | 4 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(1): Show | 4 | HG02258.hp1 HG03130.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1018+1073G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998248 | ||||||
chr1:179998295
|
T | C | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.1018+1120T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998295 | ||||||
chr1:179998297
|
T | TATTA | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.1018+1125_1018+112 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998297 | |||||
chr1:179998300
|
T | TAATTTTC | 6 | a0002c0002t0004g0022a0002c0002t0004g0023a0002c0002t0004g0024others(3): Show | 6 | HG02886.hp1 HG03098.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1018+1125_1018+112 others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998300 | ||||||
chr1:179998303
|
C | CT | 13 | a0002c0002t0003g0045a0002c0002t0005g0136a0002c0002t0007g0067others(10): Show | 13 | HG01175.hp1 HG01346.hp1 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.1018+1151dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998303 | |||||
chr1:179998303
|
C | CTT | 13 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0025others(10): Show | 13 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(10): Show |
intron_variant | MODIFIER | c.1018+1150_1018+115 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998303 | |||||
chr1:179998303
|
C | T | 6 | a0002c0002t0004g0022a0002c0002t0004g0023a0002c0002t0004g0024others(3): Show | 6 | HG02886.hp1 HG03098.hp2 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1018+1128C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998303 | ||||||
chr1:179998307
|
T | TC | 4 | a0001c0001t0001g0188a0001c0001t0001g0190a0001c0001t0001g0196others(1): Show | 4 | NA18612.hp2 NA18953.hp1 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.1018+1132_1018+113 others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998307 | ||||||
chr1:179998308
|
T | C | 91 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(88): Show | 91 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(88): Show |
intron_variant | MODIFIER | c.1018+1133T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998308 | ||||||
chr1:179998309
|
T | TTC | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+1135_1018+113 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998309 | |||||
chr1:179998311
|
T | TTC | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1018+1137_1018+113 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998311 | |||||
chr1:179998348
|
G | A | 1 | a0023c0030t0001g0218 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1018+1173G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998348 | ||||||
chr1:179998447
|
A | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1018+1272A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998447 | ||||||
chr1:179998702
|
C | G | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1018+1527C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998702 | ||||||
chr1:179998783
|
C | T | 1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1018+1608C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998783 | ||||||
chr1:179998889
|
G | GA | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.1018+1717dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179998889 | |||||
chr1:179998975
|
C | T | 1 | a0001c0001t0001g0185 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1018+1800C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179998975 | ||||||
chr1:179999086
|
C | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+1911C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999086 | ||||||
chr1:179999150
|
C | T | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1018+1975C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999150 | ||||||
chr1:179999154
|
G | A | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.1018+1979G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999154 | ||||||
chr1:179999253
|
A | T | 2 | a0005c0005t0002g0127a0005c0005t0002g0137 | 2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.1018+2078A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 179999253 | ||||||
chr1:179999475
|
AT | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1018+2309delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 179999475 | |||||
chr1:180000101
|
A | G | 1 | a0023c0030t0001g0218 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1018+2926A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000101 | ||||||
chr1:180000315
|
C | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1019-2859C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000315 | ||||||
chr1:180000316
|
G | A | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.1019-2858G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000316 | ||||||
chr1:180000340
|
C | CT | 33 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(30): Show | 33 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(30): Show |
intron_variant | MODIFIER | c.1019-2820dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr1 | 180000340 | |||||
chr1:180000511
|
T | A | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0018c0018t0001g0039 | 3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1019-2663T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000511 | ||||||
chr1:180000512
|
T | A | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0018c0018t0001g0039 | 3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1019-2662T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000512 | ||||||
chr1:180000513
|
T | A | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0018c0018t0001g0039 | 3 | HG02004.hp2 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1019-2661T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000513 | ||||||
chr1:180000521
|
A | G | 1 | a0001c0001t0001g0151 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.1019-2653A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000521 | ||||||
chr1:180000549
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1019-2625G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000549 | ||||||
chr1:180000813
|
G | A | 1 | a0002c0002t0020g0034 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1019-2361G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000813 | ||||||
chr1:180000836
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1019-2338G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000836 | ||||||
chr1:180000878
|
A | G | 1 | a0001c0001t0001g0196 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1019-2296A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000878 | ||||||
chr1:180000914
|
A | G | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.1019-2260A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180000914 | ||||||
chr1:180001016
|
T | C | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.1019-2158T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001016 | ||||||
chr1:180001153
|
C | A | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1019-2021C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001153 | ||||||
chr1:180001447
|
T | C | 1 | a0001c0001t0001g0159 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1019-1727T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001447 | ||||||
chr1:180001584
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1019-1590G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001584 | ||||||
chr1:180001666
|
T | A | 2 | a0004c0004t0003g0049a0004c0004t0003g0052 | 2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.1019-1508T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180001666 | ||||||
chr1:180002061
|
T | C | 1 | a0001c0001t0001g0221 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.1019-1113T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002061 | ||||||
chr1:180002349
|
C | G | 2 | a0002c0007t0002g0060a0002c0007t0002g0061 | 2 | HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1019-825C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002349 | ||||||
chr1:180002352
|
T | G | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1019-822T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002352 | ||||||
chr1:180002568
|
A | G | 4 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(1): Show | 4 | HG01192.hp1 HG02004.hp2 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.1019-606A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002568 | ||||||
chr1:180002722
|
G | A | 46 | a0003c0003t0001g0090a0003c0003t0002g0079a0003c0003t0002g0080others(43): Show | 46 | HG00544.hp1 HG01261.hp1 HG02015.hp1 others(43): Show |
intron_variant | MODIFIER | c.1019-452G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002722 | ||||||
chr1:180002816
|
A | G | 2 | a0003c0003t0002g0080a0003c0003t0002g0081 | 2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.1019-358A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002816 | ||||||
chr1:180002901
|
A | G | 4 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(1): Show | 4 | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.1019-273A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180002901 | ||||||
chr1:180003158
|
T | A | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1019-16T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 6/37 | chr1 | 180003158 | ||||||
chr1:180003330
|
A | G | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1132+43A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003330 | ||||||
chr1:180003335
|
A | G | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1132+48A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003335 | ||||||
chr1:180003417
|
G | A | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1132+130G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003417 | ||||||
chr1:180003591
|
C | T | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.1132+304C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003591 | ||||||
chr1:180003808
|
T | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1132+521T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003808 | ||||||
chr1:180003854
|
C | T | 10 | a0005c0005t0002g0126a0005c0005t0002g0127a0005c0005t0002g0137others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.1132+567C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180003854 | ||||||
chr1:180004015
|
A | G | 1 | a0024c0032t0002g0130 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1132+728A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004015 | ||||||
chr1:180004144
|
G | T | 1 | a0002c0002t0002g0245 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1132+857G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004144 | ||||||
chr1:180004424
|
C | G | 1 | a0001c0001t0001g0179 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1132+1137C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004424 | ||||||
chr1:180004718
|
T | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1132+1431T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004718 | ||||||
chr1:180004820
|
A | G | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1132+1533A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004820 | ||||||
chr1:180004864
|
A | AGGCT | 20 | a0002c0002t0002g0128a0002c0002t0002g0244a0002c0002t0005g0123others(17): Show | 21 | HG00733.hp2 HG01069.hp1 HG01074.hp2 others(18): Show |
intron_variant | MODIFIER | c.1133-1581_1133-157 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004864 | |||||
chr1:180004864
|
A | AGGCTGGC others(5): Show |
1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1132+1578_1133-157 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004864 | |||||
chr1:180004864
|
AGGCT | A | 4 | a0002c0016t0003g0046a0004c0004t0003g0056a0004c0004t0003g0057others(1): Show | 4 | HG02615.hp2 HG02698.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1133-1581_1133-157 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004864 | |||||
chr1:180004869
|
GGCTGGCT others(5): Show |
G | 2 | a0001c0001t0001g0205a0004c0004t0003g0054 | 2 | HG02647.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.1133-1581_1133-157 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004869 | |||||
chr1:180004873
|
G | GGCTT | 9 | a0002c0002t0002g0131a0003c0003t0002g0097a0003c0003t0002g0098others(6): Show | 9 | HG02027.hp1 HG02056.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.1133-1548_1133-154 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | |||||
chr1:180004873
|
G | T | 15 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(12): Show | 15 | HG01516.hp1 HG01517.hp1 HG02055.hp1 others(12): Show |
intron_variant | MODIFIER | c.1133-1581G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004873 | ||||||
chr1:180004873
|
GGCTTGCT others(1): Show |
G | 4 | a0001c0001t0001g0189a0002c0002t0002g0245a0002c0002t0002g0247others(1): Show | 4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1552_1133-154 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | |||||
chr1:180004873
|
GGCTTGCT others(5): Show |
G | 8 | a0002c0002t0004g0030a0002c0002t0015g0019a0006c0006t0002g0041others(5): Show | 8 | HG00323.hp1 HG02572.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.1133-1556_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | |||||
chr1:180004873
|
GGCTTGCT others(9): Show |
G | 7 | a0001c0001t0001g0154a0001c0001t0001g0173a0001c0001t0001g0226others(4): Show | 7 | HG00597.hp1 HG01069.hp2 HG01516.hp2 others(4): Show |
intron_variant | MODIFIER | c.1133-1560_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | |||||
chr1:180004873
|
GGCTTGCT others(13): Show |
G | 11 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(8): Show | 11 | HG00558.hp2 HG00738.hp1 HG01123.hp2 others(8): Show |
intron_variant | MODIFIER | c.1133-1564_1133-154 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | |||||
chr1:180004873
|
GGCTTGCT others(17): Show |
G | 11 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(8): Show | 11 | HG01109.hp2 HG01256.hp2 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1133-1568_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | |||||
chr1:180004873
|
GGCTTGCT others(21): Show |
G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.1133-1572_1133-154 others(32): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004873 | |||||
chr1:180004885
|
T | G | 3 | a0002c0002t0002g0245a0002c0002t0002g0247a0002c0002t0016g0246 | 3 | HG02109.hp1 HG02486.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.1133-1569T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004885 | ||||||
chr1:180004889
|
T | G | 10 | a0002c0002t0002g0245a0002c0002t0002g0247a0002c0002t0015g0019others(7): Show | 10 | HG00323.hp1 HG02109.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.1133-1565T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004889 | ||||||
chr1:180004890
|
G | T | 1 | a0002c0002t0004g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1133-1564G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004890 | ||||||
chr1:180004893
|
T | G | 4 | a0002c0002t0004g0020a0002c0002t0004g0024a0002c0002t0004g0033others(1): Show | 4 | HG00597.hp1 HG02129.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1561T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004893 | ||||||
chr1:180004894
|
G | T | 1 | a0002c0002t0004g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1133-1560G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004894 | ||||||
chr1:180004894
|
GCTTGCTT others(9): Show |
G | 1 | a0006c0006t0002g0232 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1133-1556_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004894 | |||||
chr1:180004897
|
T | G | 5 | a0002c0002t0004g0032a0002c0002t0004g0035a0002c0002t0004g0036others(2): Show | 5 | HG00558.hp2 HG00738.hp1 HG01123.hp2 others(2): Show |
intron_variant | MODIFIER | c.1133-1557T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004897 | ||||||
chr1:180004898
|
G | T | 96 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(93): Show | 96 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(93): Show |
intron_variant | MODIFIER | c.1133-1556G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004898 | ||||||
chr1:180004901
|
T | G | 11 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(8): Show | 11 | HG01109.hp2 HG01256.hp2 HG01258.hp2 others(8): Show |
intron_variant | MODIFIER | c.1133-1553T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004901 | ||||||
chr1:180004902
|
G | GCTTTCTT others(1): Show |
3 | a0002c0002t0005g0125a0002c0002t0005g0135a0012c0012t0009g0066 | 3 | HG01167.hp2 HG01169.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1133-1549_1133-154 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | |||||
chr1:180004902
|
G | GCTTTCTT others(5): Show |
4 | a0003c0003t0002g0109a0003c0003t0002g0118a0003c0003t0002g0119others(1): Show | 4 | HG02040.hp1 NA19030.hp2 NA19062.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1549_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | |||||
chr1:180004902
|
G | GCTTTCTT others(9): Show |
1 | a0002c0002t0005g0134 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1133-1549_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | |||||
chr1:180004902
|
G | T | 103 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(100): Show | 103 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(100): Show |
intron_variant | MODIFIER | c.1133-1552G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004902 | ||||||
chr1:180004902
|
GCTTGCTT others(9): Show |
G | 1 | a0003c0003t0002g0080 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.1133-1548_1133-153 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004902 | |||||
chr1:180004906
|
G | GCTTGCTT others(17): Show |
1 | a0002c0007t0002g0060 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(9): Show |
2 | a0005c0005t0002g0127a0005c0005t0002g0139 | 2 | HG01891.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(13): Show |
3 | a0002c0007t0002g0059a0002c0007t0002g0061a0005c0005t0002g0144 | 3 | HG02258.hp1 HG03669.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(17): Show |
1 | a0005c0005t0002g0142 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(21): Show |
1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(32): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(5): Show |
2 | a0003c0003t0002g0093a0003c0003t0002g0116 | 2 | HG02165.hp1 NA18990.hp1 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(9): Show |
1 | a0005c0005t0002g0137 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(13): Show |
3 | a0002c0007t0002g0243a0009c0010t0002g0238a0009c0010t0002g0240 | 3 | HG02896.hp1 HG02897.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(17): Show |
2 | a0005c0005t0002g0126a0009c0010t0002g0239 | 2 | HG01074.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(1): Show |
4 | a0003c0003t0002g0099a0003c0003t0002g0113a0010c0015t0002g0132others(1): Show | 4 | HG00544.hp1 HG02135.hp2 HG02622.hp2 others(1): Show |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(5): Show |
1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1133-1545_1133-154 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTGCTT others(9): Show |
2 | a0002c0007t0002g0242a0005c0005t0002g0143 | 2 | HG03098.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.1133-1545_1133-154 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTT | 14 | a0002c0002t0003g0044a0002c0002t0003g0045a0002c0002t0005g0129others(11): Show | 14 | HG00733.hp2 HG01261.hp1 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.1133-1502_1133-149 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTTCTT others(1): Show |
13 | a0002c0002t0005g0123a0002c0002t0007g0068a0003c0003t0002g0086others(10): Show | 13 | HG01099.hp2 HG01516.hp1 HG01517.hp1 others(10): Show |
intron_variant | MODIFIER | c.1133-1506_1133-149 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTTCTT others(5): Show |
9 | a0002c0002t0002g0247a0002c0002t0005g0136a0002c0002t0016g0246others(6): Show | 9 | HG01175.hp1 HG02486.hp1 HG02698.hp1 others(6): Show |
intron_variant | MODIFIER | c.1133-1510_1133-149 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTTCTT others(9): Show |
8 | a0002c0002t0002g0245a0002c0002t0007g0069a0002c0016t0003g0046others(5): Show | 8 | HG02109.hp1 HG02486.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1133-1514_1133-149 others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | GCTTTCTT others(17): Show |
1 | a0004c0004t0003g0048 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1133-1522_1133-149 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004906
|
G | T | 124 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(121): Show | 124 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(121): Show |
intron_variant | MODIFIER | c.1133-1548G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004906 | ||||||
chr1:180004906
|
GCTTT | G | 9 | a0002c0002t0002g0075a0002c0002t0002g0078a0002c0002t0005g0124others(6): Show | 9 | HG02723.hp2 HG02922.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.1133-1502_1133-149 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004906 | |||||
chr1:180004910
|
T | G | 10 | a0002c0002t0002g0076a0003c0003t0002g0092a0003c0003t0002g0094others(7): Show | 10 | HG02056.hp1 HG02056.hp2 HG03486.hp2 others(7): Show |
intron_variant | MODIFIER | c.1133-1544T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004910 | ||||||
chr1:180004914
|
T | G | 2 | a0002c0002t0005g0124a0003c0003t0002g0083 | 2 | HG06807.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1133-1540T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004914 | ||||||
chr1:180004925
|
TTC | T | 77 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(74): Show | 77 | HG00544.hp2 HG00558.hp1 HG00597.hp2 others(74): Show |
intron_variant | MODIFIER | c.1133-1527_1133-152 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004925 | |||||
chr1:180004927
|
C | CTT | 10 | a0001c0001t0001g0071a0001c0001t0001g0171a0001c0001t0001g0185others(7): Show | 10 | HG00323.hp2 HG01168.hp2 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.1133-1525_1133-152 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004927 | |||||
chr1:180004931
|
C | CTTTCTTT others(3): Show |
1 | a0001c0001t0001g0205 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1133-1521_1133-151 others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004931 | |||||
chr1:180004931
|
C | CTTTCTTT others(7): Show |
3 | a0001c0001t0001g0154a0001c0001t0001g0173a0001c0001t0001g0226 | 3 | HG01069.hp2 HG01516.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.1133-1521_1133-150 others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004931 | |||||
chr1:180004955
|
C | CTTT | 5 | a0001c0001t0001g0073a0001c0001t0001g0154a0001c0001t0001g0173others(2): Show | 5 | HG01069.hp2 HG01516.hp2 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.1133-1499_1133-149 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004955 | ||||||
chr1:180004958
|
CT | C | 90 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(87): Show | 90 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(87): Show |
intron_variant | MODIFIER | c.1133-1495delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004958 | ||||||
chr1:180004959
|
T | C | 5 | a0001c0001t0001g0073a0001c0001t0001g0154a0001c0001t0001g0173others(2): Show | 5 | HG01069.hp2 HG01516.hp2 HG01517.hp2 others(2): Show |
intron_variant | MODIFIER | c.1133-1495T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180004959 | ||||||
chr1:180004980
|
CT | C | 33 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(30): Show | 33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.1133-1464delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180004980 | |||||
chr1:180005077
|
C | CT | 6 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(3): Show | 6 | HG01243.hp1 HG02809.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-1368dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr1 | 180005077 | |||||
chr1:180005154
|
A | G | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-1300A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005154 | ||||||
chr1:180005172
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-1282G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005172 | ||||||
chr1:180005297
|
G | T | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1133-1157G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005297 | ||||||
chr1:180005367
|
T | A | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.1133-1087T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005367 | ||||||
chr1:180005442
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1133-1012A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005442 | ||||||
chr1:180005479
|
A | G | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-975A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005479 | ||||||
chr1:180005497
|
G | A | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1133-957G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005497 | ||||||
chr1:180005989
|
G | A | 1 | a0001c0001t0001g0173 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1133-465G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180005989 | ||||||
chr1:180006056
|
A | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.1133-398A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180006056 | ||||||
chr1:180006318
|
A | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1133-136A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180006318 | ||||||
chr1:180006362
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1133-92A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 7/37 | chr1 | 180006362 | ||||||
chr1:180006622
|
T | A | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1246+55T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180006622 | ||||||
chr1:180006856
|
T | C | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1246+289T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180006856 | ||||||
chr1:180007005
|
A | G | 1 | a0014c0026t0001g0183 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1246+438A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007005 | ||||||
chr1:180007053
|
G | T | 1 | a0001c0001t0001g0148 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1246+486G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007053 | ||||||
chr1:180007217
|
C | T | 4 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0220others(1): Show | 4 | HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.1246+650C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007217 | ||||||
chr1:180007286
|
T | C | 1 | a0002c0002t0005g0129 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1246+719T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007286 | ||||||
chr1:180007327
|
T | G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.1246+760T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007327 | ||||||
chr1:180007422
|
G | A | 1 | a0003c0003t0002g0122 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1246+855G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007422 | ||||||
chr1:180007505
|
C | T | 1 | a0020c0019t0001g0224 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1246+938C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007505 | ||||||
chr1:180007520
|
A | G | 1 | a0005c0005t0002g0142 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1246+953A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007520 | ||||||
chr1:180007548
|
G | A | 1 | a0001c0001t0001g0145 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.1246+981G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007548 | ||||||
chr1:180007595
|
G | T | 1 | a0020c0019t0001g0224 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1246+1028G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007595 | ||||||
chr1:180007679
|
C | T | 1 | a0002c0007t0002g0242 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.1246+1112C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007679 | ||||||
chr1:180007762
|
A | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1246+1195A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007762 | ||||||
chr1:180007798
|
CATT | C | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1246+1232_1246+123 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180007798 | ||||||
chr1:180007839
|
C | CGT | 17 | a0001c0001t0001g0172a0002c0002t0002g0005a0002c0002t0002g0075others(14): Show | 17 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(14): Show |
intron_variant | MODIFIER | c.1246+1311_1246+131 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
C | CGTGT | 30 | a0001c0001t0001g0151a0001c0001t0001g0156a0001c0001t0001g0157others(27): Show | 30 | HG00558.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.1246+1309_1246+131 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
C | CGTGTGT | 33 | a0001c0001t0001g0037a0001c0001t0001g0070a0001c0001t0001g0071others(30): Show | 33 | HG00323.hp2 HG00639.hp2 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1246+1307_1246+131 others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
C | CGTGTGTG others(1): Show |
44 | a0001c0001t0001g0072a0001c0001t0001g0145a0001c0001t0001g0147others(41): Show | 44 | HG00544.hp2 HG00733.hp1 HG01069.hp2 others(41): Show |
intron_variant | MODIFIER | c.1246+1305_1246+131 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
C | CGTGTGTG others(3): Show |
15 | a0001c0001t0001g0040a0001c0001t0001g0146a0001c0001t0001g0171others(12): Show | 15 | HG01167.hp1 HG01928.hp2 HG02004.hp2 others(12): Show |
intron_variant | MODIFIER | c.1246+1303_1246+131 others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
C | CGTGTGTG others(5): Show |
6 | a0001c0001t0001g0038a0001c0001t0001g0179a0001c0001t0001g0185others(3): Show | 6 | HG01496.hp1 HG02080.hp1 HG02165.hp2 others(3): Show |
intron_variant | MODIFIER | c.1246+1301_1246+131 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
C | CGTGTGTG others(7): Show |
2 | a0001c0001t0001g0153a0001c0001t0001g0194 | 2 | HG02922.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1246+1299_1246+131 others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
CGT | C | 52 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(49): Show | 53 | HG00544.hp1 HG00639.hp1 HG01069.hp1 others(50): Show |
intron_variant | MODIFIER | c.1246+1311_1246+131 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
CGTGT | C | 19 | a0002c0002t0002g0128a0004c0004t0003g0042a0004c0004t0003g0047others(16): Show | 19 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(16): Show |
intron_variant | MODIFIER | c.1246+1309_1246+131 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
CGTGTGT | C | 5 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(2): Show | 5 | HG02615.hp1 HG02723.hp2 HG02922.hp2 others(2): Show |
intron_variant | MODIFIER | c.1246+1307_1246+131 others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
CGTGTGTG others(1): Show |
C | 4 | a0003c0003t0002g0086a0003c0003t0002g0102a0006c0006t0002g0231others(1): Show | 4 | HG01074.hp2 HG03490.hp1 HG03492.hp1 others(1): Show |
intron_variant | MODIFIER | c.1246+1305_1246+131 others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
CGTGTGTG others(3): Show |
C | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1246+1303_1246+131 others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180007839
|
CGTGTGTG others(5): Show |
C | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1246+1301_1246+131 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180007839 | |||||
chr1:180008015
|
A | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1246+1448A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008015 | ||||||
chr1:180008031
|
A | C | 4 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(1): Show | 4 | HG02723.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.1246+1464A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008031 | ||||||
chr1:180008197
|
G | C | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.1246+1630G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008197 | ||||||
chr1:180008446
|
G | GTTAGCTA | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.1246+1881_1246+188 others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180008446 | |||||
chr1:180008646
|
T | C | 3 | a0001c0001t0001g0148a0001c0001t0001g0150a0001c0001t0001g0167 | 3 | HG00639.hp2 NA18971.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.1246+2079T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008646 | ||||||
chr1:180008864
|
G | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.1246+2297G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008864 | ||||||
chr1:180008928
|
G | A | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.1246+2361G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180008928 | ||||||
chr1:180009066
|
C | G | 242 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(239): Show | 243 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(240): Show |
intron_variant | MODIFIER | c.1246+2499C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009066 | ||||||
chr1:180009100
|
C | T | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1246+2533C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009100 | ||||||
chr1:180009222
|
A | T | 1 | a0001c0001t0001g0156 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.1246+2655A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009222 | ||||||
chr1:180009514
|
C | G | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.1247-2415C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009514 | ||||||
chr1:180009758
|
C | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.1247-2171C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009758 | ||||||
chr1:180009957
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1247-1972A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180009957 | ||||||
chr1:180010295
|
T | C | 1 | a0001c0001t0001g0217 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1247-1634T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010295 | ||||||
chr1:180010404
|
CT | C | 118 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(115): Show | 118 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(115): Show |
intron_variant | MODIFIER | c.1247-1506delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180010404 | |||||
chr1:180010404
|
CTT | C | 19 | a0001c0001t0001g0154a0001c0001t0001g0199a0001c0001t0001g0211others(16): Show | 19 | HG01069.hp2 HG01074.hp2 HG02055.hp2 others(16): Show |
intron_variant | MODIFIER | c.1247-1507_1247-150 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180010404 | |||||
chr1:180010492
|
C | T | 1 | a0023c0030t0001g0218 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.1247-1437C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010492 | ||||||
chr1:180010515
|
A | T | 1 | a0002c0002t0007g0069 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.1247-1414A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010515 | ||||||
chr1:180010537
|
C | T | 1 | a0001c0001t0001g0186 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1247-1392C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010537 | ||||||
chr1:180010582
|
T | C | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.1247-1347T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010582 | ||||||
chr1:180010693
|
T | C | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.1247-1236T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010693 | ||||||
chr1:180010714
|
A | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.1247-1215A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010714 | ||||||
chr1:180010749
|
G | A | 1 | a0002c0002t0004g0026 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1247-1180G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010749 | ||||||
chr1:180010776
|
T | A | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.1247-1153T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010776 | ||||||
chr1:180010958
|
T | C | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1247-971T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180010958 | ||||||
chr1:180010987
|
C | CT | 46 | a0003c0003t0001g0090a0003c0003t0002g0079a0003c0003t0002g0080others(43): Show | 46 | HG00544.hp1 HG01261.hp1 HG02015.hp1 others(43): Show |
intron_variant | MODIFIER | c.1247-933dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180010987 | |||||
chr1:180011060
|
G | A | 2 | a0010c0015t0002g0132a0010c0015t0002g0133 | 2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1247-869G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011060 | ||||||
chr1:180011085
|
T | C | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.1247-844T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011085 | ||||||
chr1:180011278
|
ACTCTTTG others(14): Show |
A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1247-649_1247-629d others(23): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | INFO_REALIGN_3_PRIME | chr1 | 180011278 | |||||
chr1:180011544
|
C | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1247-385C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011544 | ||||||
chr1:180011566
|
T | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1247-363T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011566 | ||||||
chr1:180011919
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1247-10A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 8/37 | chr1 | 180011919 | ||||||
chr1:180012317
|
A | C | 1 | a0001c0001t0001g0185 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1393+242A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012317 | ||||||
chr1:180012407
|
A | G | 1 | a0002c0002t0007g0067 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1393+332A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012407 | ||||||
chr1:180012767
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.1393+692G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012767 | ||||||
chr1:180012823
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1393+748C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180012823 | ||||||
chr1:180013196
|
G | T | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1394-651G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013196 | ||||||
chr1:180013208
|
A | C | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.1394-639A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013208 | ||||||
chr1:180013268
|
T | G | 1 | a0006c0006t0002g0228 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1394-579T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013268 | ||||||
chr1:180013425
|
G | T | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.1394-422G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013425 | ||||||
chr1:180013549
|
C | T | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1394-298C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013549 | ||||||
chr1:180013803
|
G | T | 3 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073 | 3 | HG00323.hp2 HG01261.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.1394-44G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 9/37 | chr1 | 180013803 | ||||||
chr1:180014530
|
G | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.2052+25G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014530 | ||||||
chr1:180014856
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2052+351A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014856 | ||||||
chr1:180014877
|
G | A | 242 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(239): Show | 243 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(240): Show |
intron_variant | MODIFIER | c.2052+372G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014877 | ||||||
chr1:180014921
|
T | C | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.2052+416T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180014921 | ||||||
chr1:180014994
|
ATAT | A | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.2052+495_2052+497d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180014994 | |||||
chr1:180015137
|
CAA | C | 5 | a0001c0001t0001g0156a0001c0001t0001g0169a0001c0001t0001g0172others(2): Show | 5 | HG00558.hp1 HG01243.hp2 HG01346.hp2 others(2): Show |
intron_variant | MODIFIER | c.2052+633_2052+634d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015137 | ||||||
chr1:180015207
|
A | ATTGT | 4 | a0002c0002t0004g0023a0009c0010t0002g0238a0009c0010t0002g0239others(1): Show | 4 | HG02818.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.2053-639_2053-636d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015207 | |||||
chr1:180015210
|
G | GTTTA | 48 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0146others(45): Show | 49 | HG01069.hp1 HG01099.hp1 HG01167.hp2 others(46): Show |
intron_variant | MODIFIER | c.2053-599_2053-596d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | |||||
chr1:180015210
|
G | GTTTATTT others(1): Show |
6 | a0001c0001t0001g0157a0001c0001t0001g0159a0002c0007t0002g0243others(3): Show | 6 | HG00544.hp2 HG01516.hp1 HG01517.hp1 others(3): Show |
intron_variant | MODIFIER | c.2053-603_2053-596d others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | |||||
chr1:180015210
|
GTTTA | G | 50 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(47): Show | 50 | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.2053-599_2053-596d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | |||||
chr1:180015210
|
GTTTATTT others(9): Show |
G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2053-611_2053-596d others(18): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 180015210 | |||||
chr1:180015214
|
A | G | 13 | a0001c0001t0001g0037a0002c0002t0004g0021a0002c0002t0004g0022others(10): Show | 13 | HG00558.hp2 HG01192.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.2053-635A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015214 | ||||||
chr1:180015218
|
A | G | 8 | a0002c0002t0004g0020a0002c0002t0004g0029a0002c0002t0004g0030others(5): Show | 8 | HG00597.hp1 HG00738.hp1 HG01109.hp2 others(5): Show |
intron_variant | MODIFIER | c.2053-631A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015218 | ||||||
chr1:180015258
|
C | T | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.2053-591C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015258 | ||||||
chr1:180015303
|
G | T | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.2053-546G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015303 | ||||||
chr1:180015384
|
G | A | 2 | a0002c0002t0002g0003a0002c0022t0002g0002 | 2 | HG01243.hp1 HG02809.hp2 |
intron_variant | MODIFIER | c.2053-465G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015384 | ||||||
chr1:180015476
|
C | T | 25 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(22): Show | 25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.2053-373C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015476 | ||||||
chr1:180015554
|
A | G | 1 | a0005c0005t0002g0138 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2053-295A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015554 | ||||||
chr1:180015624
|
A | G | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.2053-225A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015624 | ||||||
chr1:180015648
|
G | A | 1 | a0003c0003t0002g0108 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.2053-201G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 10/37 | chr1 | 180015648 | ||||||
chr1:180016021
|
C | T | 33 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(30): Show | 33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.2174+51C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016021 | ||||||
chr1:180016297
|
T | A | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+327T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016297 | ||||||
chr1:180016319
|
T | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2174+349T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016319 | ||||||
chr1:180016340
|
T | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2174+370T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016340 | ||||||
chr1:180016371
|
G | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.2174+401G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016371 | ||||||
chr1:180016579
|
C | T | 1 | a0002c0007t0002g0059 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2174+609C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016579 | ||||||
chr1:180016659
|
TG | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+690delG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016659 | ||||||
chr1:180016660
|
G | GT | 20 | a0001c0001t0001g0236a0002c0002t0002g0003a0002c0002t0002g0004others(17): Show | 20 | HG01243.hp1 HG02258.hp1 HG02559.hp2 others(17): Show |
intron_variant | MODIFIER | c.2174+708dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | |||||
chr1:180016660
|
G | GTT | 114 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(111): Show | 114 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(111): Show |
intron_variant | MODIFIER | c.2174+707_2174+708d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | |||||
chr1:180016660
|
G | GTTT | 6 | a0001c0001t0001g0168a0001c0001t0001g0178a0001c0001t0001g0182others(3): Show | 6 | HG00597.hp2 HG02027.hp2 HG02040.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+706_2174+708d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | |||||
chr1:180016660
|
GT | G | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+708delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180016660 | |||||
chr1:180016813
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+843C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016813 | ||||||
chr1:180016814
|
A | G | 1 | a0002c0002t0004g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.2174+844A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016814 | ||||||
chr1:180016870
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+900C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016870 | ||||||
chr1:180016871
|
C | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+901C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016871 | ||||||
chr1:180016873
|
G | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+903G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016873 | ||||||
chr1:180016874
|
G | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+904G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016874 | ||||||
chr1:180016876
|
AGGTCTTA others(8): Show |
A | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+907_2174+921d others(17): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016876 | ||||||
chr1:180016892
|
A | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+922A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016892 | ||||||
chr1:180016912
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+942C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016912 | ||||||
chr1:180016986
|
T | C | 10 | a0005c0005t0002g0126a0005c0005t0002g0127a0005c0005t0002g0137others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.2174+1016T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180016986 | ||||||
chr1:180017041
|
A | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+1071A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017041 | ||||||
chr1:180017174
|
C | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.2174+1204C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017174 | ||||||
chr1:180017215
|
T | A | 3 | a0001c0001t0001g0153a0001c0001t0001g0193a0001c0001t0001g0194 | 3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2174+1245T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017215 | ||||||
chr1:180017276
|
A | G | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.2174+1306A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017276 | ||||||
chr1:180017319
|
A | G | 2 | a0001c0001t0001g0154a0001c0001t0001g0173 | 2 | HG01069.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2174+1349A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017319 | ||||||
chr1:180017388
|
G | A | 3 | a0001c0001t0001g0153a0001c0001t0001g0193a0001c0001t0001g0194 | 3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.2174+1418G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017388 | ||||||
chr1:180017473
|
A | G | 3 | a0008c0009t0008g0007a0008c0009t0008g0008a0008c0009t0008g0009 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.2174+1503A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017473 | ||||||
chr1:180017618
|
A | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2174+1648A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017618 | ||||||
chr1:180017693
|
G | A | 7 | a0002c0002t0005g0123a0002c0002t0005g0124a0002c0002t0005g0125others(4): Show | 7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.2174+1723G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017693 | ||||||
chr1:180017694
|
T | G | 7 | a0002c0002t0005g0123a0002c0002t0005g0124a0002c0002t0005g0125others(4): Show | 7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.2174+1724T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017694 | ||||||
chr1:180017698
|
T | C | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2174+1728T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017698 | ||||||
chr1:180017733
|
A | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.2174+1763A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180017733 | ||||||
chr1:180018331
|
G | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2175-1618G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018331 | ||||||
chr1:180018446
|
C | A | 1 | a0001c0001t0001g0219 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.2175-1503C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018446 | ||||||
chr1:180018523
|
T | C | 9 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(6): Show | 9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.2175-1426T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018523 | ||||||
chr1:180018623
|
C | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.2175-1326C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018623 | ||||||
chr1:180018644
|
C | A | 15 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(12): Show | 15 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(12): Show |
intron_variant | MODIFIER | c.2175-1305C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018644 | ||||||
chr1:180018679
|
T | A | 15 | a0002c0020t0019g0010a0007c0008t0006g0013a0007c0008t0006g0014others(12): Show | 15 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(12): Show |
intron_variant | MODIFIER | c.2175-1270T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018679 | ||||||
chr1:180018687
|
G | A | 1 | a0010c0015t0002g0132 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.2175-1262G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018687 | ||||||
chr1:180018722
|
T | C | 1 | a0003c0003t0002g0237 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2175-1227T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018722 | ||||||
chr1:180018767
|
T | C | 15 | a0002c0020t0019g0010a0007c0008t0006g0013a0007c0008t0006g0014others(12): Show | 15 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(12): Show |
intron_variant | MODIFIER | c.2175-1182T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018767 | ||||||
chr1:180018856
|
T | C | 96 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(93): Show | 96 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(93): Show |
intron_variant | MODIFIER | c.2175-1093T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018856 | ||||||
chr1:180018857
|
C | CT | 91 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(88): Show | 91 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(88): Show |
intron_variant | MODIFIER | c.2175-1075dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr1 | 180018857 | |||||
chr1:180018873
|
T | A | 1 | a0002c0002t0004g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.2175-1076T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018873 | ||||||
chr1:180018931
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2175-1018A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180018931 | ||||||
chr1:180019021
|
A | G | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2175-928A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019021 | ||||||
chr1:180019280
|
T | A | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2175-669T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019280 | ||||||
chr1:180019340
|
C | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2175-609C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019340 | ||||||
chr1:180019463
|
C | T | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.2175-486C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019463 | ||||||
chr1:180019808
|
A | C | 2 | a0004c0004t0003g0049a0004c0004t0003g0052 | 2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.2175-141A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019808 | ||||||
chr1:180019844
|
T | G | 2 | a0002c0007t0002g0242a0002c0007t0002g0243 | 2 | HG03098.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.2175-105T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019844 | ||||||
chr1:180019935
|
A | G | 2 | a0001c0001t0001g0153a0001c0001t0001g0194 | 2 | HG02922.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.2175-14A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 11/37 | chr1 | 180019935 | ||||||
chr1:180021103
|
C | T | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.3235+94C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021103 | ||||||
chr1:180021231
|
A | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3235+222A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021231 | ||||||
chr1:180021428
|
C | T | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3235+419C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021428 | ||||||
chr1:180021609
|
G | A | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.3235+600G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021609 | ||||||
chr1:180021644
|
C | T | 2 | a0001c0001t0001g0153a0001c0001t0001g0194 | 2 | HG02922.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.3235+635C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180021644 | ||||||
chr1:180021651
|
C | CCTT | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3235+644_3235+645i others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr1 | 180021651 | |||||
chr1:180022256
|
A | G | 1 | a0001c0001t0017g0208 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3236-442A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022256 | ||||||
chr1:180022267
|
G | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.3236-431G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022267 | ||||||
chr1:180022278
|
C | CT | 26 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(23): Show | 26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.3236-418dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | INFO_REALIGN_3_PRIME | chr1 | 180022278 | |||||
chr1:180022389
|
G | T | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3236-309G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022389 | ||||||
chr1:180022457
|
A | T | 33 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(30): Show | 33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.3236-241A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022457 | ||||||
chr1:180022553
|
A | T | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.3236-145A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022553 | ||||||
chr1:180022563
|
A | G | 1 | a0008c0009t0008g0008 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3236-135A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022563 | ||||||
chr1:180022654
|
T | C | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3236-44T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 12/37 | chr1 | 180022654 | ||||||
chr1:180022941
|
A | G | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.3386+93A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180022941 | ||||||
chr1:180023187
|
G | A | 1 | a0003c0003t0002g0099 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.3386+339G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023187 | ||||||
chr1:180023202
|
G | A | 7 | a0002c0002t0015g0019a0006c0006t0002g0041a0006c0006t0002g0228others(4): Show | 7 | HG01074.hp2 HG02572.hp1 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.3386+354G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023202 | ||||||
chr1:180023282
|
GA | G | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.3386+443delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr1 | 180023282 | |||||
chr1:180023752
|
C | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.3387-667C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023752 | ||||||
chr1:180023990
|
A | G | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3387-429A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180023990 | ||||||
chr1:180024080
|
ATTG | A | 4 | a0002c0002t0005g0125a0002c0002t0005g0134a0002c0002t0005g0135others(1): Show | 4 | HG00639.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.3387-336_3387-334d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr1 | 180024080 | |||||
chr1:180024138
|
G | A | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3387-281G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180024138 | ||||||
chr1:180024166
|
T | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.3387-253T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | chr1 | 180024166 | ||||||
chr1:180024288
|
T | TAATA | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.3387-128_3387-125d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr1 | 180024288 | |||||
chr1:180024621
|
A | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.3550+39A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024621 | ||||||
chr1:180024658
|
T | C | 175 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(172): Show |
intron_variant | MODIFIER | c.3550+76T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024658 | ||||||
chr1:180024709
|
T | G | 4 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(1): Show | 4 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.3550+127T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024709 | ||||||
chr1:180024746
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.3550+164A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024746 | ||||||
chr1:180024823
|
CAAAG | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+247_3550+250d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180024823 | |||||
chr1:180024874
|
T | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+292T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024874 | ||||||
chr1:180024893
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+311G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024893 | ||||||
chr1:180024980
|
A | G | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3550+398A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024980 | ||||||
chr1:180024987
|
T | C | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.3550+405T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024987 | ||||||
chr1:180024993
|
T | G | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3550+411T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180024993 | ||||||
chr1:180025025
|
T | C | 175 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(172): Show |
intron_variant | MODIFIER | c.3550+443T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025025 | ||||||
chr1:180025079
|
C | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3550+497C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025079 | ||||||
chr1:180025115
|
G | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+533G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025115 | ||||||
chr1:180025146
|
G | A | 1 | a0001c0033t0001g0176 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.3550+564G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025146 | ||||||
chr1:180025160
|
G | A | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3550+578G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025160 | ||||||
chr1:180025379
|
G | A | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.3550+797G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025379 | ||||||
chr1:180025389
|
C | T | 1 | a0001c0001t0001g0181 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.3550+807C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025389 | ||||||
chr1:180025413
|
C | T | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.3550+831C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025413 | ||||||
chr1:180025432
|
T | C | 1 | a0001c0001t0001g0223 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.3550+850T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025432 | ||||||
chr1:180025472
|
A | G | 1 | a0003c0003t0002g0113 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.3550+890A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025472 | ||||||
chr1:180025493
|
T | C | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3550+911T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025493 | ||||||
chr1:180025667
|
G | A | 1 | a0001c0001t0001g0233 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.3550+1085G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025667 | ||||||
chr1:180025790
|
C | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.3550+1208C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025790 | ||||||
chr1:180025934
|
A | G | 4 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0215others(1): Show | 4 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.3550+1352A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025934 | ||||||
chr1:180025955
|
G | A | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.3550+1373G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180025955 | ||||||
chr1:180026058
|
CG | C | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.3550+1478delG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180026058 | |||||
chr1:180026186
|
G | T | 3 | a0001c0001t0001g0153a0001c0001t0001g0193a0001c0001t0001g0194 | 3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3550+1604G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026186 | ||||||
chr1:180026249
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+1667C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026249 | ||||||
chr1:180026270
|
CA | C | 26 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(23): Show | 26 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(23): Show |
intron_variant | MODIFIER | c.3550+1703delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180026270 | |||||
chr1:180026338
|
C | T | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3550+1756C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026338 | ||||||
chr1:180026356
|
G | A | 3 | a0008c0009t0008g0007a0008c0009t0008g0008a0008c0009t0008g0009 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.3550+1774G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026356 | ||||||
chr1:180026446
|
A | G | 3 | a0005c0005t0002g0127a0005c0005t0002g0137a0022c0028t0010g0012 | 3 | HG02559.hp2 HG02976.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3550+1864A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026446 | ||||||
chr1:180026489
|
T | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.3550+1907T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026489 | ||||||
chr1:180026778
|
A | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+2196A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026778 | ||||||
chr1:180026840
|
G | A | 164 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(161): Show | 164 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.3550+2258G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180026840 | ||||||
chr1:180027060
|
C | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3550+2478C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027060 | ||||||
chr1:180027155
|
C | A | 1 | a0001c0001t0001g0145 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.3550+2573C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027155 | ||||||
chr1:180027278
|
G | A | 3 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0207 | 3 | HG01168.hp2 HG03834.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.3550+2696G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027278 | ||||||
chr1:180027293
|
A | G | 1 | a0007c0008t0006g0015 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3550+2711A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027293 | ||||||
chr1:180027390
|
G | A | 1 | a0001c0001t0001g0152 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3550+2808G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027390 | ||||||
chr1:180027403
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+2821G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027403 | ||||||
chr1:180027498
|
A | G | 3 | a0005c0005t0002g0142a0005c0005t0002g0143a0005c0005t0002g0144 | 3 | HG03669.hp1 HG03834.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.3550+2916A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027498 | ||||||
chr1:180027547
|
G | T | 1 | a0003c0003t0002g0115 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.3550+2965G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027547 | ||||||
chr1:180027616
|
C | T | 1 | a0002c0002t0004g0020 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3550+3034C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027616 | ||||||
chr1:180027844
|
C | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3550+3262C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027844 | ||||||
chr1:180027883
|
T | C | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.3550+3301T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027883 | ||||||
chr1:180027938
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3550+3356C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180027938 | ||||||
chr1:180028559
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3551-2761G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028559 | ||||||
chr1:180028570
|
G | A | 1 | a0001c0001t0001g0152 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3551-2750G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028570 | ||||||
chr1:180028588
|
A | C | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3551-2732A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028588 | ||||||
chr1:180028669
|
T | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3551-2651T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180028669 | ||||||
chr1:180029510
|
G | C | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.3551-1810G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029510 | ||||||
chr1:180029544
|
T | C | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3551-1776T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029544 | ||||||
chr1:180029628
|
C | T | 2 | a0001c0001t0001g0199a0001c0001t0001g0200 | 2 | NA18946.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.3551-1692C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029628 | ||||||
chr1:180029697
|
G | A | 132 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(129): Show | 132 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(129): Show |
intron_variant | MODIFIER | c.3551-1623G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180029697 | ||||||
chr1:180030068
|
C | T | 26 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(23): Show | 26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.3551-1252C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030068 | ||||||
chr1:180030144
|
T | A | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3551-1176T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030144 | ||||||
chr1:180030213
|
G | GTA | 23 | a0001c0001t0001g0219a0001c0001t0001g0241a0003c0003t0001g0090others(20): Show | 23 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(20): Show |
intron_variant | MODIFIER | c.3551-1091_3551-109 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030213 | |||||
chr1:180030213
|
G | GTATA | 4 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(1): Show | 4 | HG01123.hp2 HG01256.hp2 HG01258.hp2 others(1): Show |
intron_variant | MODIFIER | c.3551-1093_3551-109 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030213 | |||||
chr1:180030213
|
GTA | G | 13 | a0001c0001t0001g0166a0001c0001t0001g0171a0001c0001t0001g0184others(10): Show | 13 | HG01123.hp1 HG01167.hp1 HG01256.hp1 others(10): Show |
intron_variant | MODIFIER | c.3551-1091_3551-109 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030213 | |||||
chr1:180030280
|
CGTATATA others(27): Show |
C | 1 | a0001c0001t0001g0151 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.3551-1030_3551-997 others(37): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030280 | |||||
chr1:180030317
|
A | ATATGTAT others(19): Show |
30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3551-1000_3551-999 others(29): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030317 | |||||
chr1:180030317
|
A | ATATGTAT others(15): Show |
5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3551-1000_3551-999 others(25): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180030317 | |||||
chr1:180030340
|
T | C | 1 | a0024c0032t0002g0130 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.3551-980T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030340 | ||||||
chr1:180030343
|
A | ATG | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3551-977_3551-976i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030343 | ||||||
chr1:180030377
|
T | C | 73 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(70): Show | 73 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(70): Show |
intron_variant | MODIFIER | c.3551-943T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030377 | ||||||
chr1:180030497
|
T | C | 1 | a0005c0005t0002g0127 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.3551-823T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030497 | ||||||
chr1:180030513
|
A | C | 1 | a0001c0001t0001g0196 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.3551-807A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030513 | ||||||
chr1:180030713
|
G | A | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3551-607G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030713 | ||||||
chr1:180030732
|
A | G | 1 | a0001c0001t0001g0216 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.3551-588A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030732 | ||||||
chr1:180030843
|
T | A | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.3551-477T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030843 | ||||||
chr1:180030936
|
A | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3551-384A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030936 | ||||||
chr1:180030961
|
G | A | 1 | a0004c0004t0003g0054 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3551-359G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180030961 | ||||||
chr1:180031055
|
A | G | 1 | a0002c0002t0005g0134 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.3551-265A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031055 | ||||||
chr1:180031169
|
A | G | 1 | a0005c0005t0002g0139 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3551-151A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031169 | ||||||
chr1:180031222
|
T | A | 1 | a0001c0001t0001g0186 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.3551-98T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031222 | ||||||
chr1:180031259
|
A | G | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3551-61A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | chr1 | 180031259 | ||||||
chr1:180031262
|
ATC | A | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3551-51_3551-50del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 180031262 | |||||
chr1:180031583
|
A | G | 1 | a0001c0001t0001g0073 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.3725+89A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031583 | ||||||
chr1:180031643
|
C | T | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3725+149C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031643 | ||||||
chr1:180031749
|
G | A | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3725+255G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031749 | ||||||
chr1:180031946
|
C | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3725+452C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180031946 | ||||||
chr1:180032002
|
TC | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3725+510delC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | 180032002 | |||||
chr1:180032024
|
C | CTT | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3725+531_3725+532d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | 180032024 | |||||
chr1:180032110
|
T | C | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3725+616T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032110 | ||||||
chr1:180032381
|
A | C | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3725+887A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032381 | ||||||
chr1:180032573
|
G | C | 2 | a0003c0003t0002g0080a0003c0003t0002g0081 | 2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.3725+1079G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032573 | ||||||
chr1:180032576
|
A | G | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.3725+1082A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032576 | ||||||
chr1:180032622
|
A | G | 2 | a0001c0001t0001g0179a0001c0001t0012g0195 | 2 | HG02080.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.3725+1128A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032622 | ||||||
chr1:180032727
|
T | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3726-1135T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032727 | ||||||
chr1:180032775
|
T | C | 1 | a0001c0001t0001g0190 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.3726-1087T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032775 | ||||||
chr1:180032935
|
A | G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3726-927A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032935 | ||||||
chr1:180032948
|
T | C | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3726-914T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032948 | ||||||
chr1:180032980
|
C | T | 1 | a0001c0001t0001g0159 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.3726-882C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180032980 | ||||||
chr1:180033008
|
A | AT | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.3726-853dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | 180033008 | |||||
chr1:180033116
|
G | A | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.3726-746G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033116 | ||||||
chr1:180033229
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3726-633G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033229 | ||||||
chr1:180033384
|
G | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3726-478G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033384 | ||||||
chr1:180033411
|
C | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.3726-451C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033411 | ||||||
chr1:180033463
|
G | A | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.3726-399G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033463 | ||||||
chr1:180033473
|
A | G | 1 | a0001c0001t0017g0208 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3726-389A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033473 | ||||||
chr1:180033553
|
T | G | 1 | a0002c0002t0004g0020 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3726-309T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033553 | ||||||
chr1:180033848
|
A | G | 9 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(6): Show | 9 | HG01074.hp2 HG02055.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.3726-14A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 15/37 | chr1 | 180033848 | ||||||
chr1:180034142
|
C | A | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.3946+60C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034142 | ||||||
chr1:180034157
|
TTTGAG | T | 4 | a0001c0001t0001g0220a0001c0001t0001g0234a0001c0001t0001g0235others(1): Show | 4 | HG01891.hp2 NA18943.hp1 NA18961.hp2 others(1): Show |
intron_variant | MODIFIER | c.3946+82_3946+86del others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180034157 | |||||
chr1:180034288
|
G | A | 1 | a0008c0009t0008g0009 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3946+206G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034288 | ||||||
chr1:180034335
|
C | T | 3 | a0001c0001t0001g0153a0001c0001t0001g0193a0001c0001t0001g0194 | 3 | HG02922.hp1 HG02976.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.3946+253C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034335 | ||||||
chr1:180034353
|
T | C | 33 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(30): Show | 33 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(30): Show |
intron_variant | MODIFIER | c.3946+271T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034353 | ||||||
chr1:180034373
|
C | T | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.3946+291C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034373 | ||||||
chr1:180034376
|
A | G | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.3946+294A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034376 | ||||||
chr1:180034443
|
C | T | 2 | a0004c0004t0003g0049a0004c0004t0003g0052 | 2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.3946+361C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034443 | ||||||
chr1:180034473
|
C | CT | 168 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(165): Show | 168 | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(165): Show |
intron_variant | MODIFIER | c.3946+404dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180034473 | |||||
chr1:180034473
|
C | CTT | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.3946+403_3946+404d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180034473 | |||||
chr1:180034514
|
G | C | 1 | a0001c0001t0001g0193 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.3946+432G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034514 | ||||||
chr1:180034630
|
C | T | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.3946+548C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034630 | ||||||
chr1:180034765
|
C | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3946+683C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034765 | ||||||
chr1:180034933
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3946+851G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034933 | ||||||
chr1:180034943
|
C | T | 1 | a0004c0004t0003g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.3946+861C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180034943 | ||||||
chr1:180035265
|
G | A | 1 | a0002c0002t0002g0247 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3946+1183G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035265 | ||||||
chr1:180035410
|
A | G | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.3946+1328A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035410 | ||||||
chr1:180035466
|
T | C | 2 | a0003c0003t0002g0080a0003c0003t0002g0081 | 2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.3946+1384T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035466 | ||||||
chr1:180035707
|
G | C | 1 | a0002c0002t0004g0026 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3947-1219G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035707 | ||||||
chr1:180035790
|
A | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.3947-1136A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035790 | ||||||
chr1:180035805
|
C | T | 1 | a0002c0002t0002g0131 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.3947-1121C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180035805 | ||||||
chr1:180036060
|
G | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3947-866G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036060 | ||||||
chr1:180036095
|
G | A | 1 | a0005c0005t0002g0126 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.3947-831G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036095 | ||||||
chr1:180036097
|
A | G | 1 | a0004c0004t0003g0047 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.3947-829A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036097 | ||||||
chr1:180036573
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3947-353G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036573 | ||||||
chr1:180036614
|
TTTAAA | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.3947-306_3947-302d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | INFO_REALIGN_3_PRIME | chr1 | 180036614 | |||||
chr1:180036670
|
T | C | 1 | a0023c0030t0001g0218 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.3947-256T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 16/37 | chr1 | 180036670 | ||||||
chr1:180037408
|
A | AG | 3 | a0001c0001t0001g0178a0001c0001t0001g0181a0001c0011t0001g0149 | 3 | HG02027.hp2 HG02135.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.4110+322dupG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037408 | |||||
chr1:180037411
|
G | GT | 13 | a0002c0020t0019g0010a0003c0003t0002g0094a0003c0003t0002g0101others(10): Show | 13 | HG00738.hp2 HG02056.hp1 HG02056.hp2 others(10): Show |
intron_variant | MODIFIER | c.4110+339dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037411 | |||||
chr1:180037411
|
GT | G | 11 | a0001c0001t0001g0184a0002c0002t0002g0128a0002c0002t0004g0035others(8): Show | 11 | HG01167.hp1 HG01168.hp1 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.4110+339delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037411 | |||||
chr1:180037412
|
T | G | 86 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(83): Show | 86 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(83): Show |
intron_variant | MODIFIER | c.4110+323T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037412 | ||||||
chr1:180037413
|
T | G | 1 | a0001c0001t0001g0184 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.4110+324T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037413 | ||||||
chr1:180037646
|
G | GTTTA | 4 | a0002c0002t0002g0244a0002c0002t0002g0245a0002c0002t0002g0247others(1): Show | 4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.4110+573_4110+576d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180037646 | |||||
chr1:180037666
|
T | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4110+577T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037666 | ||||||
chr1:180037807
|
G | A | 1 | a0001c0001t0001g0163 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.4110+718G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037807 | ||||||
chr1:180037810
|
C | T | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4110+721C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180037810 | ||||||
chr1:180038224
|
TTTTTG | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4110+1150_4110+115 others(9): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180038224 | |||||
chr1:180038344
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4110+1255G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180038344 | ||||||
chr1:180038369
|
G | A | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.4110+1280G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180038369 | ||||||
chr1:180038788
|
G | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4110+1699G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180038788 | ||||||
chr1:180039061
|
A | G | 1 | a0004c0004t0003g0042 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.4110+1972A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039061 | ||||||
chr1:180039086
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4110+1997G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039086 | ||||||
chr1:180039112
|
G | A | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4110+2023G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039112 | ||||||
chr1:180039114
|
C | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4111-2024C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039114 | ||||||
chr1:180039136
|
T | TG | 7 | a0001c0001t0001g0173a0001c0001t0001g0221a0002c0002t0005g0123others(4): Show | 7 | HG01099.hp2 HG02615.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.4111-1996dupG | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039136 | |||||
chr1:180039217
|
G | A | 1 | a0003c0003t0002g0108 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.4111-1921G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039217 | ||||||
chr1:180039224
|
G | C | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0170 | 3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.4111-1914G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039224 | ||||||
chr1:180039247
|
C | CA | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4111-1881dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039247 | |||||
chr1:180039283
|
G | A | 1 | a0004c0004t0003g0064 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.4111-1855G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039283 | ||||||
chr1:180039283
|
G | GGAGA | 139 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(136): Show |
intron_variant | MODIFIER | c.4111-1852_4111-185 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039283 | |||||
chr1:180039482
|
C | A | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.4111-1656C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039482 | ||||||
chr1:180039759
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4111-1379C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039759 | ||||||
chr1:180039787
|
T | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4111-1351T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039787 | ||||||
chr1:180039789
|
T | TCAA | 32 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(29): Show | 32 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(29): Show |
intron_variant | MODIFIER | c.4111-1333_4111-133 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180039789 | |||||
chr1:180039908
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4111-1230A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180039908 | ||||||
chr1:180040076
|
G | A | 2 | a0005c0005t0002g0140a0005c0005t0002g0141 | 2 | NA18975.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.4111-1062G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040076 | ||||||
chr1:180040144
|
C | G | 1 | a0014c0026t0001g0183 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.4111-994C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040144 | ||||||
chr1:180040189
|
A | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-949A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040189 | ||||||
chr1:180040190
|
C | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-948C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040190 | ||||||
chr1:180040191
|
A | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-947A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040191 | ||||||
chr1:180040192
|
G | GTC | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4111-946_4111-945i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040192 | ||||||
chr1:180040474
|
G | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4111-664G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040474 | ||||||
chr1:180040524
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4111-614G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040524 | ||||||
chr1:180040545
|
C | T | 1 | a0001c0001t0001g0164 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.4111-593C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040545 | ||||||
chr1:180040638
|
G | GA | 7 | a0002c0016t0003g0046a0006c0006t0002g0041a0006c0006t0002g0228others(4): Show | 7 | HG01074.hp2 HG02615.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4111-490dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | INFO_REALIGN_3_PRIME | chr1 | 180040638 | |||||
chr1:180040645
|
A | T | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4111-493A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040645 | ||||||
chr1:180040647
|
A | AT | 22 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(19): Show | 22 | HG01074.hp1 HG01099.hp1 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.4111-491_4111-490i others(3): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040647 | ||||||
chr1:180040647
|
A | T | 77 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(74): Show | 78 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.4111-491A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040647 | ||||||
chr1:180040649
|
T | A | 1 | a0001c0001t0001g0173 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.4111-489T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180040649 | ||||||
chr1:180041020
|
T | C | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.4111-118T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 17/37 | chr1 | 180041020 | ||||||
chr1:180041497
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4222-165A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 18/37 | chr1 | 180041497 | ||||||
chr1:180041567
|
T | C | 162 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(159): Show | 162 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(159): Show |
intron_variant | MODIFIER | c.4222-95T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 18/37 | chr1 | 180041567 | ||||||
chr1:180041648
|
C | A | 1 | a0001c0001t0001g0161 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.4222-14C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 18/37 | chr1 | 180041648 | ||||||
chr1:180041944
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4362+142A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180041944 | ||||||
chr1:180042127
|
T | TTC | 8 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(5): Show | 8 | HG02055.hp1 HG02258.hp1 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.4362+330_4362+331d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042127 | |||||
chr1:180042127
|
TTC | T | 3 | a0002c0002t0004g0033a0002c0002t0020g0034a0003c0003t0002g0081 | 3 | HG00558.hp2 HG02572.hp2 NA18948.hp2 |
intron_variant | MODIFIER | c.4362+330_4362+331d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042127 | |||||
chr1:180042130
|
T | TCA | 9 | a0001c0001t0001g0169a0001c0001t0001g0172a0001c0001t0001g0201others(6): Show | 9 | HG00738.hp1 HG01243.hp2 HG01346.hp2 others(6): Show |
intron_variant | MODIFIER | c.4362+329_4362+330i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042130 | |||||
chr1:180042132
|
T | A | 25 | a0001c0001t0001g0169a0001c0001t0001g0172a0001c0001t0001g0201others(22): Show | 25 | HG00597.hp1 HG00738.hp1 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.4362+330T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042132 | ||||||
chr1:180042132
|
T | TCACA | 66 | a0001c0001t0001g0037a0001c0001t0001g0145a0001c0001t0001g0146others(63): Show | 66 | HG00544.hp2 HG00558.hp1 HG00733.hp1 others(63): Show |
intron_variant | MODIFIER | c.4362+363_4362+366d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCACACA | 11 | a0001c0001t0001g0038a0001c0001t0001g0072a0001c0001t0001g0073others(8): Show | 11 | HG00597.hp2 HG00639.hp2 HG01175.hp2 others(8): Show |
intron_variant | MODIFIER | c.4362+361_4362+366d others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCACACAC others(3): Show |
4 | a0001c0001t0001g0040a0001c0001t0001g0170a0001c0001t0001g0193others(1): Show | 4 | HG02004.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.4362+357_4362+366d others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCACACAC others(7): Show |
2 | a0008c0009t0008g0007a0008c0009t0008g0009 | 2 | HG02809.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.4362+353_4362+366d others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCTCA | 7 | a0002c0016t0003g0046a0006c0006t0002g0041a0006c0006t0002g0228others(4): Show | 7 | HG01074.hp2 HG02615.hp2 HG02723.hp2 others(4): Show |
intron_variant | MODIFIER | c.4362+331_4362+332i others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCTCACA | 9 | a0001c0001t0001g0071a0007c0008t0006g0013a0007c0008t0006g0014others(6): Show | 9 | HG00323.hp1 HG00323.hp2 HG01123.hp2 others(6): Show |
intron_variant | MODIFIER | c.4362+331_4362+332i others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCTCACAC others(7): Show |
1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.4362+331_4362+332i others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCTCTCAC others(5): Show |
1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4362+331_4362+332i others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
T | TCTCTCAC others(11): Show |
1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4362+331_4362+332i others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042132
|
TCA | T | 65 | a0002c0002t0002g0128a0002c0002t0002g0244a0002c0002t0002g0245others(62): Show | 66 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(63): Show |
intron_variant | MODIFIER | c.4362+365_4362+366d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr1 | 180042132 | |||||
chr1:180042134
|
A | T | 16 | a0004c0004t0003g0042a0004c0004t0003g0047a0004c0004t0003g0048others(13): Show | 16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.4362+332A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042134 | ||||||
chr1:180042136
|
A | T | 4 | a0002c0002t0002g0128a0004c0004t0003g0049a0004c0004t0003g0052others(1): Show | 4 | HG02257.hp1 HG02698.hp2 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.4362+334A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042136 | ||||||
chr1:180042168
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4362+366A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042168 | ||||||
chr1:180042350
|
T | C | 1 | a0001c0001t0001g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.4362+548T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042350 | ||||||
chr1:180042538
|
C | G | 1 | a0002c0002t0005g0124 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4363-518C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042538 | ||||||
chr1:180042555
|
A | T | 128 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(125): Show | 128 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(125): Show |
intron_variant | MODIFIER | c.4363-501A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042555 | ||||||
chr1:180042557
|
A | G | 72 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(69): Show | 72 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.4363-499A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042557 | ||||||
chr1:180042587
|
A | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.4363-469A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 19/37 | chr1 | 180042587 | ||||||
chr1:180043219
|
T | C | 2 | a0003c0003t0002g0080a0003c0003t0002g0081 | 2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.4499+27T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043219 | ||||||
chr1:180043555
|
A | G | 5 | a0005c0005t0002g0126a0005c0005t0002g0139a0005c0005t0002g0142others(2): Show | 5 | HG01074.hp1 HG01891.hp1 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.4499+363A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043555 | ||||||
chr1:180043708
|
A | G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.4500-343A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043708 | ||||||
chr1:180043772
|
T | TTG | 34 | a0002c0002t0002g0131a0002c0002t0003g0043a0002c0002t0003g0044others(31): Show | 35 | HG01069.hp1 HG01074.hp2 HG01346.hp1 others(32): Show |
intron_variant | MODIFIER | c.4500-247_4500-246d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | |||||
chr1:180043772
|
T | TTGTG | 7 | a0002c0002t0002g0128a0002c0002t0003g0045a0002c0007t0002g0060others(4): Show | 7 | HG02055.hp1 HG02698.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.4500-249_4500-246d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | |||||
chr1:180043772
|
TTG | T | 17 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(14): Show | 17 | HG00558.hp2 HG01109.hp2 HG01168.hp1 others(14): Show |
intron_variant | MODIFIER | c.4500-247_4500-246d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | |||||
chr1:180043772
|
TTGTG | T | 9 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(6): Show | 9 | HG01243.hp1 HG02572.hp1 HG02809.hp1 others(6): Show |
intron_variant | MODIFIER | c.4500-249_4500-246d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | |||||
chr1:180043772
|
TTGTGTG | T | 94 | a0001c0001t0001g0037a0001c0001t0001g0070a0001c0001t0001g0071others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.4500-251_4500-246d others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | |||||
chr1:180043772
|
TTGTGTGT others(11): Show |
T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4500-263_4500-246d others(20): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr1 | 180043772 | |||||
chr1:180043968
|
CT | C | 7 | a0002c0002t0005g0123a0002c0002t0005g0124a0002c0002t0005g0125others(4): Show | 7 | HG00639.hp1 HG00733.hp2 HG01099.hp2 others(4): Show |
intron_variant | MODIFIER | c.4500-82delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180043968 | ||||||
chr1:180044004
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4500-47G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180044004 | ||||||
chr1:180044045
|
T | C | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
splice_region_variant&intron_variant | LOW | c.4500-6T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 20/37 | chr1 | 180044045 | ||||||
chr1:180044398
|
T | G | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.4622+225T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044398 | ||||||
chr1:180044471
|
G | C | 3 | a0008c0009t0008g0007a0008c0009t0008g0008a0008c0009t0008g0009 | 3 | HG02809.hp1 HG03453.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.4622+298G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044471 | ||||||
chr1:180044495
|
C | T | 1 | a0001c0001t0001g0222 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.4622+322C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044495 | ||||||
chr1:180044593
|
C | T | 1 | a0001c0001t0001g0201 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.4622+420C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044593 | ||||||
chr1:180044609
|
T | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+436T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044609 | ||||||
chr1:180044615
|
G | A | 1 | a0002c0007t0002g0059 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4622+442G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044615 | ||||||
chr1:180044644
|
A | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4622+471A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044644 | ||||||
chr1:180044665
|
C | T | 1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.4622+492C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044665 | ||||||
chr1:180044802
|
A | G | 1 | a0003c0003t0002g0109 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.4622+629A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044802 | ||||||
chr1:180044841
|
A | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4622+668A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044841 | ||||||
chr1:180044849
|
A | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4622+676A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180044849 | ||||||
chr1:180044896
|
G | GA | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.4622+734dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180044896 | |||||
chr1:180045033
|
TTTTATTG others(12): Show |
T | 2 | a0004c0004t0003g0049a0004c0004t0003g0052 | 2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.4622+863_4622+881d others(21): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180045033 | |||||
chr1:180045053
|
T | C | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4622+880T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045053 | ||||||
chr1:180045126
|
G | A | 1 | a0017c0021t0004g0031 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.4622+953G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045126 | ||||||
chr1:180045235
|
A | G | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.4622+1062A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045235 | ||||||
chr1:180045323
|
C | CA | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.4622+1151dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180045323 | |||||
chr1:180045354
|
A | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+1181A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045354 | ||||||
chr1:180045599
|
T | C | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.4622+1426T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045599 | ||||||
chr1:180045729
|
A | G | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+1556A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045729 | ||||||
chr1:180045763
|
T | C | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.4622+1590T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045763 | ||||||
chr1:180045953
|
C | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4622+1780C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045953 | ||||||
chr1:180045965
|
T | C | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.4622+1792T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180045965 | ||||||
chr1:180046220
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4622+2047G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180046220 | ||||||
chr1:180046377
|
T | G | 4 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(1): Show | 4 | HG02723.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.4623-2159T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180046377 | ||||||
chr1:180046717
|
A | G | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.4623-1819A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180046717 | ||||||
chr1:180047373
|
G | T | 1 | a0001c0001t0001g0185 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4623-1163G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047373 | ||||||
chr1:180047380
|
G | T | 2 | a0001c0001t0001g0185a0001c0001t0001g0226 | 2 | HG01496.hp1 HG01516.hp2 |
intron_variant | MODIFIER | c.4623-1156G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047380 | ||||||
chr1:180047389
|
A | T | 5 | a0003c0003t0002g0117a0003c0003t0002g0118a0003c0003t0002g0119others(2): Show | 5 | NA18941.hp1 NA18988.hp2 NA18998.hp2 others(2): Show |
intron_variant | MODIFIER | c.4623-1147A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047389 | ||||||
chr1:180047569
|
C | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4623-967C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047569 | ||||||
chr1:180047757
|
C | CA | 112 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(109): Show | 112 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(109): Show |
intron_variant | MODIFIER | c.4623-758dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180047757 | |||||
chr1:180047757
|
C | CAA | 5 | a0001c0001t0001g0190a0001c0001t0001g0211a0001c0001t0001g0233others(2): Show | 5 | HG02109.hp2 HG03130.hp2 NA18949.hp1 others(2): Show |
intron_variant | MODIFIER | c.4623-759_4623-758d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180047757 | |||||
chr1:180047757
|
CAAAAAAA others(2): Show |
C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4623-766_4623-758d others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr1 | 180047757 | |||||
chr1:180047844
|
A | G | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4623-692A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180047844 | ||||||
chr1:180048195
|
G | A | 1 | a0002c0002t0016g0246 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.4623-341G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180048195 | ||||||
chr1:180048365
|
C | T | 1 | a0003c0003t0002g0237 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.4623-171C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 21/37 | chr1 | 180048365 | ||||||
chr1:180048924
|
G | A | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.4792+219G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180048924 | ||||||
chr1:180049086
|
A | T | 1 | a0002c0002t0007g0067 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4792+381A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049086 | ||||||
chr1:180049119
|
C | T | 155 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(152): Show | 156 | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(153): Show |
intron_variant | MODIFIER | c.4792+414C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049119 | ||||||
chr1:180049316
|
A | G | 10 | a0003c0003t0002g0094a0005c0005t0002g0126a0005c0005t0002g0127others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.4792+611A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049316 | ||||||
chr1:180049407
|
T | C | 26 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(23): Show | 26 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(23): Show |
intron_variant | MODIFIER | c.4792+702T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049407 | ||||||
chr1:180049519
|
A | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.4792+814A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049519 | ||||||
chr1:180049543
|
CT | C | 121 | a0001c0001t0001g0185a0001c0001t0001g0190a0001c0001t0001g0212others(118): Show | 122 | HG00323.hp1 HG00544.hp1 HG00639.hp1 others(119): Show |
intron_variant | MODIFIER | c.4792+857delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180049543 | |||||
chr1:180049543
|
CTT | C | 19 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(16): Show | 19 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(16): Show |
intron_variant | MODIFIER | c.4792+856_4792+857d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180049543 | |||||
chr1:180049864
|
A | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1159A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049864 | ||||||
chr1:180049890
|
C | G | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4792+1185C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180049890 | ||||||
chr1:180050156
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1451C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050156 | ||||||
chr1:180050163
|
A | G | 3 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015 | 3 | HG01256.hp2 HG01258.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.4792+1458A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050163 | ||||||
chr1:180050204
|
G | A | 1 | a0002c0002t0002g0244 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.4792+1499G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050204 | ||||||
chr1:180050274
|
A | G | 1 | a0001c0001t0001g0198 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.4792+1569A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050274 | ||||||
chr1:180050491
|
C | T | 6 | a0002c0002t0005g0124a0002c0002t0005g0125a0002c0002t0005g0129others(3): Show | 6 | HG00639.hp1 HG00733.hp2 HG01167.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1786C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050491 | ||||||
chr1:180050612
|
G | A | 113 | a0002c0002t0002g0075a0002c0002t0002g0076a0002c0002t0002g0077others(110): Show | 114 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(111): Show |
intron_variant | MODIFIER | c.4792+1907G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050612 | ||||||
chr1:180050639
|
G | A | 6 | a0001c0001t0001g0151a0001c0001t0001g0209a0001c0001t0001g0210others(3): Show | 6 | HG01496.hp2 NA18955.hp1 NA18956.hp2 others(3): Show |
intron_variant | MODIFIER | c.4792+1934G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050639 | ||||||
chr1:180050673
|
C | CA | 35 | a0001c0001t0001g0154a0001c0001t0001g0173a0001c0001t0001g0174others(32): Show | 35 | HG01069.hp2 HG01109.hp1 HG01123.hp1 others(32): Show |
intron_variant | MODIFIER | c.4792+1985dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | |||||
chr1:180050673
|
CA | C | 20 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(17): Show | 20 | HG00639.hp2 HG01099.hp1 HG01192.hp1 others(17): Show |
intron_variant | MODIFIER | c.4792+1985delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | |||||
chr1:180050673
|
CAAA | C | 23 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(20): Show | 23 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.4792+1983_4792+198 others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | |||||
chr1:180050673
|
CAAAA | C | 5 | a0002c0020t0019g0010a0008c0009t0008g0008a0008c0009t0008g0009others(2): Show | 5 | HG02723.hp1 HG03453.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.4792+1982_4792+198 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180050673 | |||||
chr1:180050675
|
A | C | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.4792+1970A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050675 | ||||||
chr1:180050676
|
A | C | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.4792+1971A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050676 | ||||||
chr1:180050690
|
AC | A | 4 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(1): Show | 4 | HG02809.hp2 HG03041.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.4792+1986delC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050690 | ||||||
chr1:180050691
|
C | A | 17 | a0002c0022t0002g0002a0004c0004t0003g0042a0004c0004t0003g0047others(14): Show | 17 | HG01243.hp1 HG01346.hp1 HG01516.hp1 others(14): Show |
intron_variant | MODIFIER | c.4792+1986C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050691 | ||||||
chr1:180050725
|
T | G | 1 | a0005c0005t0002g0126 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.4792+2020T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050725 | ||||||
chr1:180050792
|
A | G | 151 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(148): Show | 152 | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(149): Show |
intron_variant | MODIFIER | c.4792+2087A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180050792 | ||||||
chr1:180051009
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4793-1961A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051009 | ||||||
chr1:180051484
|
A | G | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.4793-1486A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051484 | ||||||
chr1:180051510
|
AT | A | 10 | a0003c0003t0002g0094a0005c0005t0002g0126a0005c0005t0002g0127others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.4793-1459delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051510 | ||||||
chr1:180051638
|
T | A | 1 | a0001c0001t0001g0236 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.4793-1332T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051638 | ||||||
chr1:180051915
|
C | T | 81 | a0002c0002t0002g0075a0002c0002t0002g0076a0002c0002t0002g0077others(78): Show | 82 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(79): Show |
intron_variant | MODIFIER | c.4793-1055C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051915 | ||||||
chr1:180051916
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.4793-1054G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051916 | ||||||
chr1:180051949
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.4793-1021G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180051949 | ||||||
chr1:180052033
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4793-937C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052033 | ||||||
chr1:180052054
|
A | G | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.4793-916A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052054 | ||||||
chr1:180052093
|
G | A | 1 | a0004c0004t0003g0054 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4793-877G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052093 | ||||||
chr1:180052209
|
CT | C | 4 | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0001g0215others(1): Show | 4 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.4793-758delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180052209 | |||||
chr1:180052345
|
T | C | 1 | a0001c0001t0001g0170 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.4793-625T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052345 | ||||||
chr1:180052470
|
A | G | 1 | a0002c0002t0020g0034 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.4793-500A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052470 | ||||||
chr1:180052540
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.4793-430A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052540 | ||||||
chr1:180052599
|
TTTGA | T | 25 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(22): Show | 25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.4793-365_4793-362d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr1 | 180052599 | |||||
chr1:180052613
|
A | T | 1 | a0004c0004t0003g0054 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4793-357A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 22/37 | chr1 | 180052613 | ||||||
chr1:180053172
|
T | C | 1 | a0003c0003t0002g0103 | 1 | NA20752.hp2 | splice_region_variant&intron_variant | LOW | c.4989+6T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053172 | ||||||
chr1:180053208
|
T | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.4989+42T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053208 | ||||||
chr1:180053224
|
T | C | 1 | a0016c0023t0002g0006 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.4989+58T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053224 | ||||||
chr1:180053432
|
A | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.4989+266A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053432 | ||||||
chr1:180053529
|
A | G | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4990-221A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053529 | ||||||
chr1:180053625
|
A | T | 246 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(243): Show | 247 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(244): Show |
intron_variant | MODIFIER | c.4990-125A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053625 | ||||||
chr1:180053678
|
A | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.4990-72A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053678 | ||||||
chr1:180053718
|
A | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.4990-32A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 23/37 | chr1 | 180053718 | ||||||
chr1:180054069
|
ATACT | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5174+137_5174+140d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr1 | 180054069 | |||||
chr1:180054672
|
A | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5262+170A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180054672 | ||||||
chr1:180055147
|
C | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5262+645C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055147 | ||||||
chr1:180055289
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5262+787A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055289 | ||||||
chr1:180055383
|
C | G | 1 | a0003c0003t0002g0108 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.5262+881C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055383 | ||||||
chr1:180055546
|
C | CT | 100 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(97): Show | 100 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(97): Show |
intron_variant | MODIFIER | c.5262+1068dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180055546 | |||||
chr1:180055546
|
C | CTT | 9 | a0001c0001t0001g0146a0001c0001t0001g0164a0001c0001t0001g0174others(6): Show | 9 | HG01256.hp2 HG01258.hp2 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.5262+1067_5262+106 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180055546 | |||||
chr1:180055546
|
CTT | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5262+1067_5262+106 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180055546 | |||||
chr1:180055612
|
G | A | 2 | a0002c0002t0004g0035a0002c0002t0004g0036 | 2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.5262+1110G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055612 | ||||||
chr1:180055797
|
C | T | 31 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(28): Show | 31 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(28): Show |
intron_variant | MODIFIER | c.5262+1295C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055797 | ||||||
chr1:180055922
|
T | C | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5262+1420T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055922 | ||||||
chr1:180055997
|
T | A | 1 | a0003c0003t0002g0112 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.5262+1495T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180055997 | ||||||
chr1:180056318
|
C | T | 9 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(6): Show | 9 | HG02723.hp1 HG02809.hp1 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.5262+1816C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056318 | ||||||
chr1:180056355
|
C | T | 1 | a0004c0004t0003g0049 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.5262+1853C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056355 | ||||||
chr1:180056404
|
A | G | 3 | a0002c0002t0004g0032a0002c0002t0004g0035a0002c0002t0004g0036 | 3 | HG00738.hp1 HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.5262+1902A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056404 | ||||||
chr1:180056465
|
T | TC | 69 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0072others(66): Show | 70 | HG00597.hp2 HG01069.hp1 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.5262+1974dupC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180056465 | |||||
chr1:180056465
|
T | TCC | 36 | a0001c0001t0001g0040a0001c0001t0001g0202a0001c0001t0001g0214others(33): Show | 36 | HG00544.hp1 HG01261.hp1 HG01346.hp1 others(33): Show |
intron_variant | MODIFIER | c.5262+1973_5262+197 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180056465 | |||||
chr1:180056465
|
TC | T | 39 | a0001c0001t0001g0174a0001c0001t0001g0192a0001c0001t0001g0204others(36): Show | 39 | HG00558.hp2 HG00597.hp1 HG00639.hp1 others(36): Show |
intron_variant | MODIFIER | c.5262+1974delC | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180056465 | |||||
chr1:180056477
|
T | C | 2 | a0002c0002t0015g0019a0005c0005t0002g0126 | 2 | HG01074.hp1 HG02572.hp1 |
intron_variant | MODIFIER | c.5262+1975T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056477 | ||||||
chr1:180056601
|
C | A | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.5262+2099C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056601 | ||||||
chr1:180056632
|
G | C | 1 | a0024c0032t0002g0130 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5262+2130G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056632 | ||||||
chr1:180056692
|
A | G | 1 | a0002c0002t0020g0034 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.5262+2190A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056692 | ||||||
chr1:180056707
|
C | G | 10 | a0003c0003t0002g0094a0005c0005t0002g0126a0005c0005t0002g0127others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.5262+2205C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180056707 | ||||||
chr1:180057017
|
G | T | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.5262+2515G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057017 | ||||||
chr1:180057080
|
C | G | 3 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015 | 3 | HG01256.hp2 HG01258.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.5262+2578C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057080 | ||||||
chr1:180057099
|
C | CT | 7 | a0002c0002t0007g0001a0002c0002t0007g0067a0002c0002t0007g0068others(4): Show | 8 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.5262+2612dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180057099 | |||||
chr1:180057243
|
C | T | 6 | a0001c0001t0001g0151a0001c0001t0001g0209a0001c0001t0001g0210others(3): Show | 6 | HG01496.hp2 NA18955.hp1 NA18956.hp2 others(3): Show |
intron_variant | MODIFIER | c.5262+2741C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057243 | ||||||
chr1:180057256
|
A | G | 1 | a0012c0012t0009g0066 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.5262+2754A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057256 | ||||||
chr1:180057422
|
T | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.5262+2920T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057422 | ||||||
chr1:180057516
|
CT | C | 20 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(17): Show | 20 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(17): Show |
intron_variant | MODIFIER | c.5262+3027delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180057516 | |||||
chr1:180057627
|
G | T | 1 | a0001c0011t0001g0149 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.5262+3125G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057627 | ||||||
chr1:180057653
|
CT | C | 10 | a0003c0003t0002g0094a0005c0005t0002g0126a0005c0005t0002g0127others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.5262+3154delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180057653 | |||||
chr1:180057833
|
C | T | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.5262+3331C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057833 | ||||||
chr1:180057924
|
C | T | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.5262+3422C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180057924 | ||||||
chr1:180058028
|
C | G | 1 | a0001c0001t0001g0175 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.5262+3526C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058028 | ||||||
chr1:180058094
|
T | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5262+3592T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058094 | ||||||
chr1:180058148
|
T | G | 179 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(176): Show | 179 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(176): Show |
intron_variant | MODIFIER | c.5262+3646T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058148 | ||||||
chr1:180058314
|
A | G | 1 | a0021c0025t0013g0180 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.5262+3812A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058314 | ||||||
chr1:180058490
|
T | C | 99 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(96): Show | 99 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.5263-3730T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180058490 | ||||||
chr1:180059015
|
C | T | 175 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(172): Show |
intron_variant | MODIFIER | c.5263-3205C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059015 | ||||||
chr1:180059041
|
G | A | 175 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(172): Show |
intron_variant | MODIFIER | c.5263-3179G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059041 | ||||||
chr1:180059536
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5263-2684C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059536 | ||||||
chr1:180059546
|
A | G | 1 | a0001c0001t0001g0152 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.5263-2674A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059546 | ||||||
chr1:180059606
|
A | G | 165 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(162): Show | 165 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.5263-2614A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180059606 | ||||||
chr1:180059980
|
TA | T | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5263-2230delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180059980 | |||||
chr1:180060049
|
T | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5263-2171T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060049 | ||||||
chr1:180060086
|
A | G | 1 | a0005c0005t0002g0144 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5263-2134A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060086 | ||||||
chr1:180060155
|
G | A | 1 | a0004c0004t0003g0047 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.5263-2065G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060155 | ||||||
chr1:180060317
|
GT | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.5263-1900delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180060317 | |||||
chr1:180060341
|
G | C | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5263-1879G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060341 | ||||||
chr1:180060376
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5263-1844C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060376 | ||||||
chr1:180060460
|
A | G | 3 | a0003c0003t0002g0094a0005c0005t0002g0140a0005c0005t0002g0141 | 3 | HG02056.hp1 NA18975.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.5263-1760A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060460 | ||||||
chr1:180060516
|
G | A | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5263-1704G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060516 | ||||||
chr1:180060756
|
A | T | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0170 | 3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.5263-1464A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060756 | ||||||
chr1:180060821
|
T | C | 1 | a0024c0032t0002g0130 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.5263-1399T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180060821 | ||||||
chr1:180061186
|
C | CATTG | 106 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(103): Show | 106 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(103): Show |
intron_variant | MODIFIER | c.5263-1008_5263-100 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180061186 | |||||
chr1:180061186
|
CATTGATT others(5): Show |
C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5263-1016_5263-100 others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr1 | 180061186 | |||||
chr1:180061353
|
C | T | 1 | a0003c0003t0002g0109 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5263-867C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061353 | ||||||
chr1:180061397
|
A | G | 139 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(136): Show |
intron_variant | MODIFIER | c.5263-823A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061397 | ||||||
chr1:180061415
|
A | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5263-805A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061415 | ||||||
chr1:180061483
|
C | A | 3 | a0001c0001t0001g0160a0001c0001t0001g0181a0001c0001t0001g0182 | 3 | HG02015.hp2 HG02040.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.5263-737C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061483 | ||||||
chr1:180061506
|
T | G | 5 | a0003c0003t0002g0117a0003c0003t0002g0118a0003c0003t0002g0119others(2): Show | 5 | NA18941.hp1 NA18988.hp2 NA18998.hp2 others(2): Show |
intron_variant | MODIFIER | c.5263-714T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061506 | ||||||
chr1:180061670
|
G | A | 4 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(1): Show | 4 | HG02055.hp1 HG02451.hp2 HG02615.hp2 others(1): Show |
intron_variant | MODIFIER | c.5263-550G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061670 | ||||||
chr1:180061802
|
G | C | 14 | a0003c0003t0002g0083a0003c0003t0002g0092a0003c0003t0002g0093others(11): Show | 14 | HG00544.hp1 HG02056.hp2 HG02135.hp2 others(11): Show |
intron_variant | MODIFIER | c.5263-418G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061802 | ||||||
chr1:180061845
|
C | T | 2 | a0010c0015t0002g0132a0010c0015t0002g0133 | 2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5263-375C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061845 | ||||||
chr1:180061854
|
T | C | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.5263-366T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061854 | ||||||
chr1:180061923
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5263-297G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180061923 | ||||||
chr1:180062046
|
T | G | 33 | a0001c0001t0001g0193a0001c0001t0001g0241a0002c0002t0003g0043others(30): Show | 33 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.5263-174T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 25/37 | chr1 | 180062046 | ||||||
chr1:180062496
|
G | A | 1 | a0005c0005t0002g0142 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.5409+130G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062496 | ||||||
chr1:180062650
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5409+284G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062650 | ||||||
chr1:180062722
|
C | A | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5409+356C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062722 | ||||||
chr1:180062724
|
C | T | 1 | a0003c0003t0002g0097 | 1 | NA19078.hp1 | intron_variant | MODIFIER | c.5409+358C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062724 | ||||||
chr1:180062801
|
A | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5409+435A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180062801 | ||||||
chr1:180063058
|
C | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5409+692C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063058 | ||||||
chr1:180063095
|
T | C | 9 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(6): Show | 9 | HG01074.hp2 HG02055.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.5409+729T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063095 | ||||||
chr1:180063138
|
G | A | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5409+772G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063138 | ||||||
chr1:180063174
|
C | A | 1 | a0001c0033t0001g0176 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.5409+808C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063174 | ||||||
chr1:180063186
|
C | CT | 102 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(99): Show | 102 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(99): Show |
intron_variant | MODIFIER | c.5409+841dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | |||||
chr1:180063186
|
C | CTT | 18 | a0001c0001t0001g0145a0001c0001t0001g0151a0001c0001t0001g0181others(15): Show | 18 | HG01496.hp2 HG01891.hp2 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.5409+840_5409+841d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | |||||
chr1:180063186
|
CT | C | 39 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(36): Show | 39 | HG00733.hp2 HG01074.hp1 HG01074.hp2 others(36): Show |
intron_variant | MODIFIER | c.5409+841delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | |||||
chr1:180063186
|
CTT | C | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5409+840_5409+841d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063186 | |||||
chr1:180063215
|
C | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5409+849C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063215 | ||||||
chr1:180063316
|
C | T | 1 | a0002c0002t0004g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.5409+950C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063316 | ||||||
chr1:180063374
|
A | T | 1 | a0015c0024t0001g0155 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.5409+1008A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063374 | ||||||
chr1:180063538
|
C | T | 1 | a0023c0030t0001g0218 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.5409+1172C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063538 | ||||||
chr1:180063782
|
C | T | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.5410-1333C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180063782 | ||||||
chr1:180063812
|
C | CA | 123 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(120): Show | 123 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.5410-1294dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr1 | 180063812 | |||||
chr1:180064016
|
C | T | 1 | a0002c0002t0005g0134 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.5410-1099C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064016 | ||||||
chr1:180064203
|
A | G | 1 | a0005c0005t0002g0144 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.5410-912A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064203 | ||||||
chr1:180064216
|
G | A | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5410-899G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064216 | ||||||
chr1:180064309
|
C | T | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.5410-806C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064309 | ||||||
chr1:180064384
|
A | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5410-731A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064384 | ||||||
chr1:180064902
|
C | A | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5410-213C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180064902 | ||||||
chr1:180065013
|
A | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5410-102A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180065013 | ||||||
chr1:180065087
|
A | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.5410-28A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180065087 | ||||||
chr1:180065106
|
T | G | 1 | a0001c0001t0001g0147 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.5410-9T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 26/37 | chr1 | 180065106 | ||||||
chr1:180065296
|
CTT | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+25_5567+26del others(2): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065296 | ||||||
chr1:180065400
|
A | G | 4 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0220others(1): Show | 4 | HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.5567+128A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065400 | ||||||
chr1:180065467
|
G | A | 131 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(128): Show | 131 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(128): Show |
intron_variant | MODIFIER | c.5567+195G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065467 | ||||||
chr1:180065746
|
A | G | 1 | a0007c0008t0011g0016 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5567+474A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065746 | ||||||
chr1:180065762
|
C | A | 3 | a0001c0001t0001g0186a0001c0001t0001g0196a0001c0001t0001g0217 | 3 | HG01928.hp1 NA18953.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.5567+490C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065762 | ||||||
chr1:180065763
|
A | C | 3 | a0001c0001t0001g0037a0002c0002t0007g0001a0002c0002t0015g0019 | 4 | HG01069.hp1 HG01192.hp1 HG02258.hp2 others(1): Show |
intron_variant | MODIFIER | c.5567+491A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065763 | ||||||
chr1:180065764
|
A | G | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5567+492A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065764 | ||||||
chr1:180065870
|
A | G | 1 | a0001c0001t0017g0208 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.5567+598A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180065870 | ||||||
chr1:180066228
|
G | A | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.5567+956G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066228 | ||||||
chr1:180066228
|
G | C | 1 | a0003c0003t0002g0109 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.5567+956G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066228 | ||||||
chr1:180066288
|
A | C | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5567+1016A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066288 | ||||||
chr1:180066561
|
C | A | 242 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(239): Show | 243 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(240): Show |
intron_variant | MODIFIER | c.5567+1289C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066561 | ||||||
chr1:180066611
|
G | A | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.5567+1339G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066611 | ||||||
chr1:180066672
|
G | A | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5567+1400G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066672 | ||||||
chr1:180066944
|
T | A | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5567+1672T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180066944 | ||||||
chr1:180067522
|
T | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5567+2250T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180067522 | ||||||
chr1:180067619
|
G | T | 8 | a0002c0002t0004g0020a0002c0002t0004g0030a0002c0002t0004g0032others(5): Show | 8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.5567+2347G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180067619 | ||||||
chr1:180068052
|
T | G | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.5567+2780T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068052 | ||||||
chr1:180068078
|
T | G | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+2806T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068078 | ||||||
chr1:180068080
|
G | A | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5567+2808G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068080 | ||||||
chr1:180068191
|
C | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.5567+2919C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068191 | ||||||
chr1:180068442
|
A | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+3170A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068442 | ||||||
chr1:180068852
|
A | G | 129 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(126): Show | 129 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(126): Show |
intron_variant | MODIFIER | c.5567+3580A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068852 | ||||||
chr1:180068853
|
C | T | 17 | a0001c0001t0001g0241a0004c0004t0003g0042a0004c0004t0003g0047others(14): Show | 17 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(14): Show |
intron_variant | MODIFIER | c.5567+3581C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068853 | ||||||
chr1:180068871
|
T | C | 1 | a0004c0004t0003g0054 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.5567+3599T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180068871 | ||||||
chr1:180069333
|
T | C | 8 | a0002c0002t0004g0020a0002c0002t0004g0030a0002c0002t0004g0032others(5): Show | 8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.5567+4061T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069333 | ||||||
chr1:180069359
|
C | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5567+4087C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069359 | ||||||
chr1:180069408
|
T | G | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5567+4136T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069408 | ||||||
chr1:180069430
|
T | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5567+4158T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069430 | ||||||
chr1:180069488
|
A | C | 1 | a0001c0001t0001g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.5567+4216A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069488 | ||||||
chr1:180069580
|
G | A | 1 | a0002c0002t0004g0020 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.5567+4308G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069580 | ||||||
chr1:180069703
|
A | G | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5567+4431A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069703 | ||||||
chr1:180069783
|
A | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5567+4511A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180069783 | ||||||
chr1:180070002
|
C | T | 93 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(90): Show | 93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.5567+4730C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070002 | ||||||
chr1:180070411
|
T | C | 1 | a0001c0001t0001g0211 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.5568-4611T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070411 | ||||||
chr1:180070478
|
A | G | 1 | a0007c0008t0006g0018 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.5568-4544A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070478 | ||||||
chr1:180070556
|
A | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5568-4466A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070556 | ||||||
chr1:180070562
|
G | C | 1 | a0007c0008t0011g0016 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.5568-4460G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070562 | ||||||
chr1:180070625
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-4397C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070625 | ||||||
chr1:180070719
|
G | C | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5568-4303G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070719 | ||||||
chr1:180070816
|
G | A | 1 | a0001c0001t0001g0146 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.5568-4206G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070816 | ||||||
chr1:180070981
|
C | G | 1 | a0001c0011t0001g0149 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.5568-4041C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180070981 | ||||||
chr1:180071018
|
C | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5568-4004C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071018 | ||||||
chr1:180071025
|
G | C | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-3997G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071025 | ||||||
chr1:180071111
|
A | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5568-3911A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071111 | ||||||
chr1:180071146
|
C | CA | 32 | a0001c0001t0001g0037a0001c0001t0001g0071a0001c0001t0001g0073others(29): Show | 33 | HG00323.hp2 HG00639.hp1 HG00733.hp2 others(30): Show |
intron_variant | MODIFIER | c.5568-3855dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071146 | |||||
chr1:180071146
|
CA | C | 23 | a0001c0001t0001g0151a0001c0001t0001g0154a0001c0001t0001g0184others(20): Show | 23 | HG01069.hp2 HG01167.hp1 HG01168.hp2 others(20): Show |
intron_variant | MODIFIER | c.5568-3855delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071146 | |||||
chr1:180071274
|
A | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.5568-3748A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071274 | ||||||
chr1:180071316
|
G | T | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3706G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071316 | ||||||
chr1:180071331
|
C | T | 1 | a0001c0001t0001g0161 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.5568-3691C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071331 | ||||||
chr1:180071459
|
C | CA | 20 | a0001c0001t0001g0200a0001c0001t0001g0204a0002c0002t0004g0020others(17): Show | 20 | HG00597.hp1 HG00738.hp1 HG01109.hp2 others(17): Show |
intron_variant | MODIFIER | c.5568-3544dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071459 | |||||
chr1:180071459
|
CA | C | 14 | a0001c0001t0001g0156a0001c0001t0001g0164a0001c0001t0001g0167others(11): Show | 14 | HG00558.hp1 HG01074.hp1 HG02723.hp1 others(11): Show |
intron_variant | MODIFIER | c.5568-3544delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071459 | |||||
chr1:180071477
|
A | T | 4 | a0003c0003t0001g0090a0003c0003t0002g0079a0003c0003t0002g0091others(1): Show | 4 | HG04228.hp2 NA18949.hp2 NA18978.hp2 others(1): Show |
intron_variant | MODIFIER | c.5568-3545A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071477 | ||||||
chr1:180071498
|
T | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3524T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071498 | ||||||
chr1:180071628
|
C | CAAAAATT others(6068): Show |
1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.5568-3380_5568-337 others(6079): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071628 | |||||
chr1:180071645
|
T | C | 27 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(24): Show | 27 | HG01074.hp2 HG01099.hp1 HG01346.hp1 others(24): Show |
intron_variant | MODIFIER | c.5568-3377T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071645 | ||||||
chr1:180071781
|
C | CA | 123 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(120): Show | 123 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(120): Show |
intron_variant | MODIFIER | c.5568-3231dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180071781 | |||||
chr1:180071813
|
A | G | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3209A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071813 | ||||||
chr1:180071912
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-3110G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180071912 | ||||||
chr1:180072012
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.5568-3010A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072012 | ||||||
chr1:180072097
|
A | G | 132 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(129): Show | 132 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(129): Show |
intron_variant | MODIFIER | c.5568-2925A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072097 | ||||||
chr1:180072152
|
A | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5568-2870A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072152 | ||||||
chr1:180072288
|
G | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-2734G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072288 | ||||||
chr1:180072312
|
G | A | 1 | a0001c0011t0001g0149 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.5568-2710G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072312 | ||||||
chr1:180072530
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5568-2492G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072530 | ||||||
chr1:180072659
|
T | C | 1 | a0002c0002t0005g0129 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.5568-2363T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072659 | ||||||
chr1:180072683
|
G | A | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5568-2339G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072683 | ||||||
chr1:180072816
|
A | G | 2 | a0002c0002t0004g0021a0002c0002t0004g0022 | 2 | HG02647.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.5568-2206A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180072816 | ||||||
chr1:180072967
|
C | CA | 10 | a0003c0003t0002g0094a0005c0005t0002g0126a0005c0005t0002g0127others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.5568-2054dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180072967 | |||||
chr1:180073116
|
A | T | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.5568-1906A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073116 | ||||||
chr1:180073157
|
G | A | 1 | a0001c0001t0001g0219 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.5568-1865G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073157 | ||||||
chr1:180073159
|
A | G | 44 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(41): Show | 44 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.5568-1863A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073159 | ||||||
chr1:180073253
|
T | C | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.5568-1769T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073253 | ||||||
chr1:180073806
|
A | G | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0170 | 3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.5568-1216A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180073806 | ||||||
chr1:180074372
|
A | G | 94 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(91): Show | 94 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.5568-650A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074372 | ||||||
chr1:180074399
|
C | T | 1 | a0001c0001t0001g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.5568-623C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074399 | ||||||
chr1:180074404
|
G | A | 131 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(128): Show | 131 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(128): Show |
intron_variant | MODIFIER | c.5568-618G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074404 | ||||||
chr1:180074676
|
CATCTTCT others(13): Show |
C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5568-343_5568-324d others(22): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 180074676 | |||||
chr1:180074707
|
A | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5568-315A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074707 | ||||||
chr1:180074788
|
T | C | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.5568-234T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074788 | ||||||
chr1:180074849
|
A | G | 1 | a0002c0002t0004g0024 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.5568-173A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 27/37 | chr1 | 180074849 | ||||||
chr1:180075340
|
A | G | 1 | a0007c0008t0006g0018 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.5767+119A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075340 | ||||||
chr1:180075435
|
A | AAC | 99 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(96): Show | 99 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.5767+215_5767+216i others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180075435 | |||||
chr1:180075449
|
G | A | 1 | a0002c0002t0016g0246 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.5767+228G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075449 | ||||||
chr1:180075474
|
T | G | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.5767+253T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075474 | ||||||
chr1:180075626
|
G | T | 1 | a0001c0001t0001g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.5767+405G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075626 | ||||||
chr1:180075948
|
C | T | 1 | a0001c0001t0001g0193 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.5767+727C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180075948 | ||||||
chr1:180075958
|
G | GGAAAAAA others(24): Show |
1 | a0001c0001t0001g0164 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.5767+738_5767+768d others(33): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180075958 | |||||
chr1:180075959
|
GA | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.5767+749delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180075959 | |||||
chr1:180076113
|
G | C | 1 | a0001c0001t0001g0150 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.5767+892G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076113 | ||||||
chr1:180076217
|
A | C | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.5767+996A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076217 | ||||||
chr1:180076341
|
A | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.5767+1120A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076341 | ||||||
chr1:180076356
|
T | A | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.5767+1135T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076356 | ||||||
chr1:180076381
|
C | T | 2 | a0001c0001t0001g0163a0001c0001t0018g0177 | 2 | HG03669.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.5767+1160C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076381 | ||||||
chr1:180076412
|
A | G | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.5767+1191A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076412 | ||||||
chr1:180076512
|
T | C | 1 | a0001c0001t0001g0166 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.5767+1291T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076512 | ||||||
chr1:180076558
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.5767+1337G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076558 | ||||||
chr1:180076605
|
A | G | 1 | a0004c0004t0003g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.5767+1384A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076605 | ||||||
chr1:180076606
|
T | G | 1 | a0001c0001t0001g0201 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5767+1385T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076606 | ||||||
chr1:180076617
|
C | T | 1 | a0003c0003t0002g0085 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.5767+1396C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076617 | ||||||
chr1:180076662
|
A | T | 1 | a0001c0001t0001g0201 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.5767+1441A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076662 | ||||||
chr1:180076867
|
A | G | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.5768-1596A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076867 | ||||||
chr1:180076935
|
A | G | 2 | a0001c0001t0001g0186a0001c0001t0001g0217 | 2 | HG01928.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.5768-1528A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180076935 | ||||||
chr1:180077016
|
G | T | 1 | a0001c0001t0018g0177 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.5768-1447G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077016 | ||||||
chr1:180077052
|
T | C | 1 | a0001c0001t0001g0071 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.5768-1411T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077052 | ||||||
chr1:180077102
|
A | C | 2 | a0010c0015t0002g0132a0010c0015t0002g0133 | 2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.5768-1361A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077102 | ||||||
chr1:180077379
|
T | TAAAG | 139 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(136): Show | 139 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(136): Show |
intron_variant | MODIFIER | c.5768-1081_5768-108 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077379 | |||||
chr1:180077447
|
A | G | 1 | a0003c0003t0002g0113 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.5768-1016A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077447 | ||||||
chr1:180077535
|
C | T | 25 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(22): Show | 25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.5768-928C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077535 | ||||||
chr1:180077671
|
T | TA | 7 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(4): Show | 7 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.5768-772dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | |||||
chr1:180077671
|
T | TAA | 6 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(3): Show | 6 | HG00558.hp2 HG01168.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.5768-773_5768-772d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | |||||
chr1:180077671
|
T | TAAA | 93 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073others(90): Show | 93 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(90): Show |
intron_variant | MODIFIER | c.5768-774_5768-772d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | |||||
chr1:180077671
|
T | TAAAA | 18 | a0001c0001t0001g0072a0001c0001t0001g0147a0001c0001t0001g0148others(15): Show | 18 | HG01175.hp2 HG01243.hp2 HG01496.hp1 others(15): Show |
intron_variant | MODIFIER | c.5768-775_5768-772d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr1 | 180077671 | |||||
chr1:180077776
|
A | G | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.5768-687A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077776 | ||||||
chr1:180077877
|
T | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.5768-586T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180077877 | ||||||
chr1:180078064
|
C | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.5768-399C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 28/37 | chr1 | 180078064 | ||||||
chr1:180078682
|
A | C | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
splice_region_variant&intron_variant | LOW | c.5979+8A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180078682 | ||||||
chr1:180079179
|
GA | G | 88 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(85): Show | 88 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(85): Show |
intron_variant | MODIFIER | c.5979+514delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr1 | 180079179 | |||||
chr1:180079223
|
C | CT | 97 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(94): Show | 97 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(94): Show |
intron_variant | MODIFIER | c.5979+560dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr1 | 180079223 | |||||
chr1:180079523
|
A | T | 15 | a0003c0003t0002g0083a0003c0003t0002g0092a0003c0003t0002g0093others(12): Show | 15 | HG00544.hp1 HG02056.hp2 HG02135.hp2 others(12): Show |
intron_variant | MODIFIER | c.5979+849A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180079523 | ||||||
chr1:180079877
|
A | T | 130 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(127): Show | 130 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.5980-640A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180079877 | ||||||
chr1:180079974
|
A | G | 124 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(121): Show | 124 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(121): Show |
intron_variant | MODIFIER | c.5980-543A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180079974 | ||||||
chr1:180080460
|
A | G | 1 | a0006c0006t0002g0232 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.5980-57A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 29/37 | chr1 | 180080460 | ||||||
chr1:180080705
|
C | T | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.6124+44C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080705 | ||||||
chr1:180080804
|
ACCATATT others(8): Show |
A | 5 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(2): Show | 5 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show |
intron_variant | MODIFIER | c.6124+157_6124+171d others(17): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr1 | 180080804 | |||||
chr1:180080887
|
T | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6124+226T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080887 | ||||||
chr1:180080923
|
G | A | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6124+262G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080923 | ||||||
chr1:180080929
|
G | A | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.6124+268G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080929 | ||||||
chr1:180080984
|
C | T | 4 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(1): Show | 4 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.6124+323C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180080984 | ||||||
chr1:180081017
|
G | A | 16 | a0004c0004t0003g0042a0004c0004t0003g0047a0004c0004t0003g0048others(13): Show | 16 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(13): Show |
intron_variant | MODIFIER | c.6124+356G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081017 | ||||||
chr1:180081034
|
A | AT | 12 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(9): Show | 12 | HG00323.hp1 HG00738.hp2 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.6124+386dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr1 | 180081034 | |||||
chr1:180081416
|
C | G | 5 | a0004c0004t0003g0047a0004c0004t0003g0050a0004c0004t0003g0051others(2): Show | 5 | HG01346.hp1 HG02486.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.6124+755C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081416 | ||||||
chr1:180081442
|
T | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.6124+781T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081442 | ||||||
chr1:180081455
|
A | T | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.6124+794A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081455 | ||||||
chr1:180081470
|
A | G | 1 | a0003c0003t0002g0118 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.6124+809A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081470 | ||||||
chr1:180081714
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.6124+1053C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081714 | ||||||
chr1:180081844
|
C | A | 4 | a0003c0003t0002g0093a0003c0003t0002g0106a0003c0003t0002g0113others(1): Show | 4 | HG00544.hp1 HG02165.hp1 NA18947.hp1 others(1): Show |
intron_variant | MODIFIER | c.6124+1183C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081844 | ||||||
chr1:180081973
|
G | A | 3 | a0005c0005t0002g0142a0005c0005t0002g0143a0005c0005t0002g0144 | 3 | HG03669.hp1 HG03834.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.6124+1312G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180081973 | ||||||
chr1:180082130
|
A | T | 2 | a0002c0007t0002g0060a0002c0007t0002g0061 | 2 | HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.6124+1469A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082130 | ||||||
chr1:180082236
|
T | C | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6124+1575T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082236 | ||||||
chr1:180082341
|
G | C | 1 | a0004c0004t0003g0054 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6125-1677G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082341 | ||||||
chr1:180082502
|
A | G | 1 | a0022c0028t0010g0012 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.6125-1516A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082502 | ||||||
chr1:180082592
|
G | T | 2 | a0004c0004t0003g0049a0004c0004t0003g0052 | 2 | HG02257.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.6125-1426G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082592 | ||||||
chr1:180082611
|
G | A | 1 | a0001c0001t0001g0150 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.6125-1407G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082611 | ||||||
chr1:180082699
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.6125-1319A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082699 | ||||||
chr1:180082882
|
A | G | 124 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(121): Show | 124 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(121): Show |
intron_variant | MODIFIER | c.6125-1136A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180082882 | ||||||
chr1:180083529
|
CAG | C | 13 | a0002c0002t0005g0123a0002c0002t0005g0124a0002c0002t0005g0125others(10): Show | 14 | HG00639.hp1 HG00733.hp2 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.6125-488_6125-487d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083529 | ||||||
chr1:180083717
|
T | C | 1 | a0001c0001t0001g0179 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.6125-301T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083717 | ||||||
chr1:180083737
|
C | T | 4 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(1): Show | 4 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.6125-281C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083737 | ||||||
chr1:180083829
|
G | A | 1 | a0003c0003t0002g0237 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.6125-189G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 30/37 | chr1 | 180083829 | ||||||
chr1:180084396
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.6285+218G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084396 | ||||||
chr1:180084410
|
G | A | 2 | a0012c0012t0009g0065a0012c0012t0009g0066 | 2 | HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.6285+232G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084410 | ||||||
chr1:180084425
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.6285+247C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084425 | ||||||
chr1:180084442
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6285+264G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084442 | ||||||
chr1:180084446
|
G | T | 1 | a0004c0004t0003g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.6285+268G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084446 | ||||||
chr1:180084513
|
C | T | 8 | a0001c0001t0001g0153a0001c0001t0001g0194a0002c0020t0019g0010others(5): Show | 8 | HG02723.hp1 HG02809.hp1 HG02922.hp1 others(5): Show |
intron_variant | MODIFIER | c.6285+335C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084513 | ||||||
chr1:180084522
|
G | A | 1 | a0007c0008t0006g0018 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.6285+344G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084522 | ||||||
chr1:180084779
|
G | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6285+601G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180084779 | ||||||
chr1:180085280
|
T | C | 1 | a0001c0001t0001g0073 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.6285+1102T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085280 | ||||||
chr1:180085349
|
T | C | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.6285+1171T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085349 | ||||||
chr1:180085480
|
T | C | 2 | a0002c0007t0002g0060a0002c0007t0002g0061 | 2 | HG03130.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.6285+1302T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085480 | ||||||
chr1:180085508
|
GTTACACA others(15): Show |
G | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6285+1345_6285+136 others(26): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180085508 | |||||
chr1:180085589
|
T | A | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.6285+1411T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085589 | ||||||
chr1:180085926
|
G | A | 6 | a0002c0002t0007g0001a0002c0002t0007g0067a0002c0002t0007g0068others(3): Show | 7 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.6286-1652G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085926 | ||||||
chr1:180085953
|
T | C | 3 | a0001c0001t0001g0198a0001c0001t0001g0199a0001c0001t0001g0200 | 3 | HG01258.hp1 NA18946.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.6286-1625T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180085953 | ||||||
chr1:180086010
|
A | G | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.6286-1568A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086010 | ||||||
chr1:180086089
|
A | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6286-1489A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086089 | ||||||
chr1:180086150
|
A | C | 122 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(119): Show | 122 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(119): Show |
intron_variant | MODIFIER | c.6286-1428A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086150 | ||||||
chr1:180086220
|
A | G | 35 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(32): Show | 35 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.6286-1358A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086220 | ||||||
chr1:180086475
|
T | C | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6286-1103T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086475 | ||||||
chr1:180086525
|
A | G | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.6286-1053A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086525 | ||||||
chr1:180086540
|
C | CAT | 33 | a0001c0001t0001g0178a0002c0002t0002g0077a0002c0002t0007g0068others(30): Show | 33 | HG01261.hp1 HG02015.hp1 HG02027.hp1 others(30): Show |
intron_variant | MODIFIER | c.6286-1018_6286-101 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | |||||
chr1:180086540
|
C | CATAT | 3 | a0003c0003t0002g0108a0011c0014t0002g0088a0011c0014t0002g0089 | 3 | NA18956.hp1 NA18961.hp1 NA18967.hp2 |
intron_variant | MODIFIER | c.6286-1020_6286-101 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | |||||
chr1:180086540
|
CAT | C | 51 | a0001c0001t0001g0164a0001c0001t0001g0193a0001c0001t0001g0213others(48): Show | 51 | HG00323.hp1 HG01074.hp1 HG01074.hp2 others(48): Show |
intron_variant | MODIFIER | c.6286-1018_6286-101 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | |||||
chr1:180086540
|
CATAT | C | 106 | a0001c0001t0001g0037a0001c0001t0001g0070a0001c0001t0001g0071others(103): Show | 106 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(103): Show |
intron_variant | MODIFIER | c.6286-1020_6286-101 others(8): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | |||||
chr1:180086540
|
CATATAT | C | 9 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0170others(6): Show | 9 | HG02004.hp1 HG02717.hp1 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.6286-1022_6286-101 others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 180086540 | |||||
chr1:180086560
|
T | A | 1 | a0004c0004t0003g0054 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.6286-1018T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086560 | ||||||
chr1:180086850
|
A | C | 10 | a0003c0003t0002g0094a0005c0005t0002g0126a0005c0005t0002g0127others(7): Show | 10 | HG01074.hp1 HG01891.hp1 HG02056.hp1 others(7): Show |
intron_variant | MODIFIER | c.6286-728A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180086850 | ||||||
chr1:180087007
|
T | G | 1 | a0002c0022t0002g0002 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.6286-571T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087007 | ||||||
chr1:180087236
|
A | G | 1 | a0001c0001t0001g0146 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.6286-342A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087236 | ||||||
chr1:180087353
|
C | T | 2 | a0002c0002t0004g0035a0002c0002t0004g0036 | 2 | HG01168.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.6286-225C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087353 | ||||||
chr1:180087356
|
G | T | 1 | a0001c0001t0001g0217 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.6286-222G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087356 | ||||||
chr1:180087405
|
G | A | 1 | a0001c0011t0001g0149 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.6286-173G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 31/37 | chr1 | 180087405 | ||||||
chr1:180087971
|
T | A | 1 | a0005c0005t0002g0142 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.6425+254T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180087971 | ||||||
chr1:180088101
|
T | C | 1 | a0001c0001t0001g0160 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.6425+384T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088101 | ||||||
chr1:180088145
|
G | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6425+428G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088145 | ||||||
chr1:180088325
|
A | G | 1 | a0001c0001t0001g0160 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.6425+608A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088325 | ||||||
chr1:180088421
|
CA | C | 65 | a0001c0001t0001g0201a0001c0001t0001g0210a0002c0002t0002g0131others(62): Show | 66 | HG00544.hp1 HG00639.hp1 HG00733.hp2 others(63): Show |
intron_variant | MODIFIER | c.6425+719delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180088421 | |||||
chr1:180088421
|
CAA | C | 174 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(171): Show | 174 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(171): Show |
intron_variant | MODIFIER | c.6425+718_6425+719d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180088421 | |||||
chr1:180088456
|
C | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.6425+739C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088456 | ||||||
chr1:180088680
|
C | A | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.6425+963C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088680 | ||||||
chr1:180088746
|
A | T | 2 | a0003c0003t0002g0080a0003c0003t0002g0081 | 2 | HG02451.hp1 HG02572.hp2 |
intron_variant | MODIFIER | c.6425+1029A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088746 | ||||||
chr1:180088797
|
G | T | 25 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(22): Show | 25 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(22): Show |
intron_variant | MODIFIER | c.6425+1080G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088797 | ||||||
chr1:180088853
|
A | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.6425+1136A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088853 | ||||||
chr1:180088993
|
G | A | 3 | a0001c0001t0001g0148a0001c0001t0001g0150a0001c0001t0001g0167 | 3 | HG00639.hp2 NA18971.hp1 NA18979.hp1 |
intron_variant | MODIFIER | c.6425+1276G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180088993 | ||||||
chr1:180089057
|
A | G | 1 | a0001c0001t0001g0190 | 1 | NA19078.hp2 | intron_variant | MODIFIER | c.6425+1340A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089057 | ||||||
chr1:180089323
|
C | T | 1 | a0001c0001t0001g0147 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.6426-1391C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089323 | ||||||
chr1:180089397
|
A | G | 1 | a0007c0008t0011g0016 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.6426-1317A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089397 | ||||||
chr1:180089414
|
C | G | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.6426-1300C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089414 | ||||||
chr1:180089456
|
G | A | 1 | a0003c0003t0002g0109 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.6426-1258G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089456 | ||||||
chr1:180089471
|
T | C | 1 | a0001c0001t0001g0164 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.6426-1243T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089471 | ||||||
chr1:180089494
|
C | T | 2 | a0002c0002t0005g0125a0002c0002t0005g0135 | 2 | HG01167.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.6426-1220C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089494 | ||||||
chr1:180089550
|
C | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.6426-1164C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089550 | ||||||
chr1:180089582
|
C | CA | 12 | a0001c0001t0001g0147a0001c0001t0001g0181a0001c0001t0001g0227others(9): Show | 12 | HG01074.hp2 HG02135.hp1 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.6426-1115dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180089582 | |||||
chr1:180089582
|
CA | C | 21 | a0001c0001t0001g0201a0002c0002t0002g0128a0002c0002t0004g0020others(18): Show | 21 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(18): Show |
intron_variant | MODIFIER | c.6426-1115delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180089582 | |||||
chr1:180089582
|
CAA | C | 5 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(2): Show | 5 | HG00323.hp1 HG01123.hp2 HG01256.hp2 others(2): Show |
intron_variant | MODIFIER | c.6426-1116_6426-111 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180089582 | |||||
chr1:180089781
|
C | T | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.6426-933C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089781 | ||||||
chr1:180089814
|
G | A | 5 | a0001c0001t0001g0166a0001c0001t0001g0171a0001c0001t0001g0184others(2): Show | 5 | HG01123.hp1 HG01167.hp1 HG01256.hp1 others(2): Show |
intron_variant | MODIFIER | c.6426-900G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089814 | ||||||
chr1:180089830
|
A | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.6426-884A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089830 | ||||||
chr1:180089929
|
A | G | 1 | a0001c0001t0001g0152 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.6426-785A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089929 | ||||||
chr1:180089946
|
C | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.6426-768C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180089946 | ||||||
chr1:180090104
|
A | G | 1 | a0001c0001t0001g0070 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.6426-610A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090104 | ||||||
chr1:180090120
|
A | G | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.6426-594A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090120 | ||||||
chr1:180090152
|
C | T | 30 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(27): Show | 30 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(27): Show |
intron_variant | MODIFIER | c.6426-562C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090152 | ||||||
chr1:180090154
|
T | G | 175 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(172): Show | 175 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(172): Show |
intron_variant | MODIFIER | c.6426-560T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090154 | ||||||
chr1:180090267
|
C | T | 1 | a0001c0001t0001g0145 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.6426-447C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090267 | ||||||
chr1:180090274
|
C | T | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.6426-440C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090274 | ||||||
chr1:180090287
|
C | T | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.6426-427C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090287 | ||||||
chr1:180090439
|
G | A | 6 | a0001c0001t0001g0151a0001c0001t0001g0209a0001c0001t0001g0210others(3): Show | 6 | HG01496.hp2 NA18955.hp1 NA18956.hp2 others(3): Show |
intron_variant | MODIFIER | c.6426-275G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090439 | ||||||
chr1:180090470
|
C | CGGGAGGC others(10): Show |
1 | a0001c0001t0001g0073 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.6426-242_6426-226d others(19): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090470 | |||||
chr1:180090545
|
C | CA | 11 | a0002c0002t0003g0045a0002c0002t0007g0068a0002c0020t0019g0010others(8): Show | 11 | HG01261.hp1 HG02055.hp1 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.6426-144dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | |||||
chr1:180090545
|
C | CAAAAAAA others(5): Show |
1 | a0001c0001t0001g0150 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.6426-155_6426-144d others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | |||||
chr1:180090545
|
CAAAAAAA others(3): Show |
C | 23 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(20): Show | 23 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.6426-153_6426-144d others(12): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | |||||
chr1:180090545
|
CAAAAAAA others(4): Show |
C | 1 | a0002c0002t0004g0036 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.6426-154_6426-144d others(13): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | |||||
chr1:180090545
|
CAAAAAAA others(5): Show |
C | 1 | a0004c0004t0003g0047 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.6426-155_6426-144d others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090545 | |||||
chr1:180090556
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.6426-145_6426-144i others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090556 | |||||
chr1:180090556
|
A | AAAAAAAA others(6): Show |
1 | a0001c0001t0001g0165 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.6426-146_6426-145i others(15): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090556 | |||||
chr1:180090557
|
A | AAAAAAAA others(7): Show |
1 | a0001c0001t0001g0148 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.6426-153_6426-140d others(16): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | |||||
chr1:180090557
|
A | AAAAAAAA others(6): Show |
15 | a0001c0001t0001g0145a0001c0001t0001g0147a0001c0001t0001g0151others(12): Show | 15 | HG00544.hp2 HG01109.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.6426-145_6426-144i others(15): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | |||||
chr1:180090557
|
A | AAAAAAAA others(5): Show |
73 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(70): Show | 73 | HG00323.hp2 HG00558.hp1 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.6426-146_6426-145i others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | |||||
chr1:180090557
|
A | AAAAAAAA others(4): Show |
1 | a0001c0001t0001g0160 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.6426-147_6426-146i others(13): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090557 | |||||
chr1:180090558
|
A | AAAAAAAA others(5): Show |
1 | a0001c0001t0001g0233 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.6426-145_6426-144i others(14): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090558 | |||||
chr1:180090558
|
A | AAAAAAAA others(4): Show |
1 | a0001c0001t0001g0201 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.6426-146_6426-145i others(13): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090558 | |||||
chr1:180090601
|
GACATACC others(1): Show |
G | 100 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(97): Show | 100 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(97): Show |
intron_variant | MODIFIER | c.6426-110_6426-103d others(10): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr1 | 180090601 | |||||
chr1:180090676
|
A | C | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.6426-38A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 32/37 | chr1 | 180090676 | ||||||
chr1:180090967
|
G | A | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.6508+171G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180090967 | ||||||
chr1:180091008
|
G | T | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.6508+212G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091008 | ||||||
chr1:180091039
|
C | G | 1 | a0002c0002t0015g0019 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.6508+243C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091039 | ||||||
chr1:180091095
|
C | G | 100 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(97): Show | 100 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(97): Show |
intron_variant | MODIFIER | c.6508+299C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091095 | ||||||
chr1:180091141
|
A | G | 100 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(97): Show | 100 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(97): Show |
intron_variant | MODIFIER | c.6508+345A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091141 | ||||||
chr1:180091182
|
CT | C | 25 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(22): Show | 25 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(22): Show |
intron_variant | MODIFIER | c.6508+400delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr1 | 180091182 | |||||
chr1:180091202
|
A | AT | 11 | a0001c0001t0001g0219a0002c0002t0003g0043a0002c0002t0003g0044others(8): Show | 11 | HG01074.hp2 HG02055.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.6508+406_6508+407i others(3): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091202 | ||||||
chr1:180091203
|
C | G | 11 | a0001c0001t0001g0219a0002c0002t0003g0043a0002c0002t0003g0044others(8): Show | 11 | HG01074.hp2 HG02055.hp1 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.6508+407C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091203 | ||||||
chr1:180091203
|
C | T | 154 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(151): Show | 154 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(151): Show |
intron_variant | MODIFIER | c.6508+407C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091203 | ||||||
chr1:180091205
|
G | A | 1 | a0001c0001t0001g0204 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.6508+409G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091205 | ||||||
chr1:180091233
|
G | A | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.6508+437G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091233 | ||||||
chr1:180091502
|
T | A | 9 | a0002c0002t0004g0021a0002c0002t0004g0022a0002c0002t0004g0023others(6): Show | 9 | HG01109.hp2 HG02257.hp2 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.6508+706T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091502 | ||||||
chr1:180091556
|
C | T | 1 | a0010c0015t0002g0132 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.6508+760C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091556 | ||||||
chr1:180091623
|
G | C | 1 | a0001c0001t0001g0163 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.6508+827G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091623 | ||||||
chr1:180091667
|
C | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.6508+871C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091667 | ||||||
chr1:180091750
|
C | T | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.6509-864C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180091750 | ||||||
chr1:180091828
|
C | CA | 6 | a0003c0003t0002g0092a0003c0003t0002g0095a0003c0003t0002g0096others(3): Show | 6 | HG02135.hp2 NA18967.hp2 NA18979.hp2 others(3): Show |
intron_variant | MODIFIER | c.6509-771dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr1 | 180091828 | |||||
chr1:180092046
|
C | CA | 124 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(121): Show | 124 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(121): Show |
intron_variant | MODIFIER | c.6509-558dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr1 | 180092046 | |||||
chr1:180092144
|
G | A | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.6509-470G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180092144 | ||||||
chr1:180092569
|
T | C | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.6509-45T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 33/37 | chr1 | 180092569 | ||||||
chr1:180095073
|
T | A | 2 | a0010c0015t0002g0132a0010c0015t0002g0133 | 2 | HG02622.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.8512-450T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | chr1 | 180095073 | ||||||
chr1:180095147
|
A | C | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.8512-376A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | chr1 | 180095147 | ||||||
chr1:180095232
|
T | TAGAC | 130 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(127): Show | 130 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(127): Show |
intron_variant | MODIFIER | c.8512-288_8512-285d others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr1 | 180095232 | |||||
chr1:180095488
|
A | C | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.8512-35A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 34/37 | chr1 | 180095488 | ||||||
chr1:180096402
|
C | CA | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.9066+233dupA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180096402 | |||||
chr1:180096402
|
CA | C | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9066+233delA | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180096402 | |||||
chr1:180096420
|
C | A | 1 | a0003c0003t0002g0100 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.9066+236C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180096420 | ||||||
chr1:180096650
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9066+466G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180096650 | ||||||
chr1:180096968
|
A | ATGCTGGT others(2): Show |
16 | a0001c0001t0001g0241a0004c0004t0003g0042a0004c0004t0003g0047others(13): Show | 16 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(13): Show |
intron_variant | MODIFIER | c.9066+812_9066+820d others(11): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180096968 | |||||
chr1:180097064
|
G | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9066+880G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097064 | ||||||
chr1:180097767
|
T | C | 4 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(1): Show | 4 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.9067-1096T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097767 | ||||||
chr1:180097785
|
A | AT | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9067-1072dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180097785 | |||||
chr1:180097833
|
C | A | 1 | a0001c0001t0001g0072 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.9067-1030C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097833 | ||||||
chr1:180097904
|
T | C | 26 | a0001c0001t0001g0241a0002c0002t0003g0043a0002c0002t0003g0044others(23): Show | 26 | HG01099.hp1 HG01346.hp1 HG01516.hp1 others(23): Show |
intron_variant | MODIFIER | c.9067-959T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180097904 | ||||||
chr1:180098057
|
G | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.9067-806G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098057 | ||||||
chr1:180098083
|
G | T | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.9067-780G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098083 | ||||||
chr1:180098089
|
G | A | 3 | a0001c0001t0001g0241a0004c0004t0003g0047a0004c0004t0003g0050 | 3 | HG01099.hp1 HG02896.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.9067-774G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098089 | ||||||
chr1:180098108
|
T | G | 3 | a0003c0003t0002g0092a0003c0003t0002g0096a0003c0003t0002g0112 | 3 | NA18995.hp1 NA19055.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.9067-755T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098108 | ||||||
chr1:180098116
|
A | G | 4 | a0001c0001t0001g0157a0001c0001t0001g0168a0001c0001t0001g0178others(1): Show | 4 | HG00597.hp2 HG02027.hp2 HG02080.hp2 others(1): Show |
intron_variant | MODIFIER | c.9067-747A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098116 | ||||||
chr1:180098258
|
C | T | 1 | a0001c0001t0001g0173 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.9067-605C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098258 | ||||||
chr1:180098330
|
TTTG | T | 240 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(237): Show | 241 | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(238): Show |
intron_variant | MODIFIER | c.9067-512_9067-510d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr1 | 180098330 | |||||
chr1:180098460
|
C | T | 3 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0170 | 3 | HG02004.hp1 HG02717.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.9067-403C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098460 | ||||||
chr1:180098635
|
T | C | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9067-228T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098635 | ||||||
chr1:180098779
|
G | A | 38 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(35): Show | 38 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(35): Show |
intron_variant | MODIFIER | c.9067-84G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098779 | ||||||
chr1:180098779
|
G | T | 1 | a0001c0001t0001g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9067-84G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098779 | ||||||
chr1:180098787
|
G | A | 1 | a0004c0004t0003g0051 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.9067-76G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098787 | ||||||
chr1:180098853
|
G | A | 29 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(26): Show | 29 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.9067-10G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 36/37 | chr1 | 180098853 | ||||||
chr1:180099654
|
T | C | 1 | a0001c0001t0001g0241 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.9189+669T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180099654 | ||||||
chr1:180099780
|
A | AT | 26 | a0001c0001t0001g0193a0002c0002t0002g0003a0002c0002t0002g0004others(23): Show | 26 | HG01109.hp2 HG01168.hp1 HG01243.hp1 others(23): Show |
intron_variant | MODIFIER | c.9189+818dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | |||||
chr1:180099780
|
A | ATT | 8 | a0002c0002t0004g0024a0002c0002t0004g0028a0002c0002t0004g0032others(5): Show | 8 | HG00738.hp1 HG01169.hp1 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.9189+817_9189+818d others(4): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | |||||
chr1:180099780
|
A | ATTT | 6 | a0002c0002t0004g0020a0002c0002t0004g0030a0002c0002t0004g0033others(3): Show | 6 | HG00558.hp2 HG00597.hp1 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.9189+816_9189+818d others(5): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | |||||
chr1:180099780
|
AT | A | 6 | a0002c0002t0005g0125a0002c0002t0007g0069a0003c0003t0002g0117others(3): Show | 6 | HG01167.hp2 HG02559.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+818delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | |||||
chr1:180099780
|
ATTTTTTT | A | 90 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(87): Show | 90 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(87): Show |
intron_variant | MODIFIER | c.9189+812_9189+818d others(9): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180099780 | |||||
chr1:180099850
|
A | G | 1 | a0020c0019t0001g0224 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.9189+865A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180099850 | ||||||
chr1:180099988
|
G | A | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.9189+1003G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180099988 | ||||||
chr1:180100029
|
G | A | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+1044G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100029 | ||||||
chr1:180100075
|
C | T | 2 | a0001c0001t0001g0233a0002c0002t0004g0032 | 2 | HG00738.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.9189+1090C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100075 | ||||||
chr1:180100093
|
C | T | 1 | a0001c0001t0001g0163 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.9189+1108C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100093 | ||||||
chr1:180100313
|
C | A | 1 | a0004c0004t0003g0057 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.9189+1328C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100313 | ||||||
chr1:180100351
|
C | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9189+1366C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100351 | ||||||
chr1:180100603
|
G | A | 1 | a0003c0003t0002g0100 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.9189+1618G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100603 | ||||||
chr1:180100769
|
A | G | 1 | a0001c0001t0001g0157 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.9189+1784A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100769 | ||||||
chr1:180100920
|
C | A | 1 | a0004c0004t0003g0047 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.9189+1935C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180100920 | ||||||
chr1:180101082
|
A | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+2097A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101082 | ||||||
chr1:180101270
|
G | A | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.9189+2285G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101270 | ||||||
chr1:180101286
|
AT | A | 18 | a0001c0001t0001g0174a0002c0002t0004g0020a0002c0002t0004g0021others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+2312delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180101286 | |||||
chr1:180101346
|
C | A | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+2361C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101346 | ||||||
chr1:180101351
|
T | C | 2 | a0001c0001t0001g0186a0001c0001t0001g0217 | 2 | HG01928.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.9189+2366T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101351 | ||||||
chr1:180101488
|
A | G | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9189+2503A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101488 | ||||||
chr1:180101505
|
A | T | 2 | a0001c0001t0001g0157a0001c0001t0001g0168 | 2 | HG00597.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.9189+2520A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101505 | ||||||
chr1:180101604
|
C | T | 4 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0220others(1): Show | 4 | HG01891.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.9189+2619C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101604 | ||||||
chr1:180101958
|
A | C | 140 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(137): Show | 140 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(137): Show |
intron_variant | MODIFIER | c.9189+2973A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180101958 | ||||||
chr1:180102063
|
C | G | 3 | a0001c0001t0001g0160a0001c0001t0001g0181a0001c0001t0001g0182 | 3 | HG02015.hp2 HG02040.hp2 HG02135.hp1 |
intron_variant | MODIFIER | c.9189+3078C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102063 | ||||||
chr1:180102134
|
A | AT | 16 | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0216others(13): Show | 16 | HG01074.hp2 HG01175.hp1 HG02135.hp2 others(13): Show |
intron_variant | MODIFIER | c.9189+3168dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180102134 | |||||
chr1:180102134
|
AT | A | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+3168delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180102134 | |||||
chr1:180102134
|
ATT | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+3167_9189+316 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180102134 | |||||
chr1:180102228
|
C | T | 1 | a0002c0007t0002g0243 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.9189+3243C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102228 | ||||||
chr1:180102276
|
G | C | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.9189+3291G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102276 | ||||||
chr1:180102371
|
G | A | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9189+3386G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102371 | ||||||
chr1:180102475
|
G | A | 1 | a0001c0001t0001g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9189+3490G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102475 | ||||||
chr1:180102508
|
A | C | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.9189+3523A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102508 | ||||||
chr1:180102527
|
T | C | 2 | a0012c0012t0009g0065a0012c0012t0009g0066 | 2 | HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.9189+3542T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102527 | ||||||
chr1:180102542
|
C | T | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+3557C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102542 | ||||||
chr1:180102649
|
T | C | 99 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(96): Show | 99 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(96): Show |
intron_variant | MODIFIER | c.9189+3664T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102649 | ||||||
chr1:180102852
|
A | G | 177 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(174): Show | 177 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(174): Show |
intron_variant | MODIFIER | c.9189+3867A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102852 | ||||||
chr1:180102977
|
A | G | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9189+3992A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180102977 | ||||||
chr1:180103134
|
A | T | 1 | a0010c0029t0010g0011 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.9189+4149A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103134 | ||||||
chr1:180103374
|
C | T | 1 | a0003c0013t0002g0111 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.9189+4389C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103374 | ||||||
chr1:180103477
|
T | C | 2 | a0005c0005t0002g0127a0005c0005t0002g0137 | 2 | HG02559.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.9189+4492T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103477 | ||||||
chr1:180103581
|
G | T | 1 | a0020c0019t0001g0224 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.9189+4596G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103581 | ||||||
chr1:180103809
|
C | T | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9189+4824C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103809 | ||||||
chr1:180103815
|
T | G | 133 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(130): Show | 133 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(130): Show |
intron_variant | MODIFIER | c.9189+4830T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180103815 | ||||||
chr1:180103953
|
C | CAAAATAT others(17): Show |
7 | a0002c0002t0002g0128a0002c0002t0007g0001a0002c0002t0007g0067others(4): Show | 8 | HG01069.hp1 HG02258.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.9189+5031_9189+505 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180103953 | |||||
chr1:180103953
|
C | CAAATATA others(16): Show |
18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+4971_9189+497 others(27): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180103953 | |||||
chr1:180103953
|
CAAAATAT others(17): Show |
C | 8 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(5): Show | 8 | HG00738.hp2 HG01243.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.9189+5031_9189+505 others(28): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180103953 | |||||
chr1:180104235
|
T | C | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+5250T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104235 | ||||||
chr1:180104266
|
A | G | 1 | a0002c0002t0004g0030 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.9189+5281A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104266 | ||||||
chr1:180104356
|
C | T | 98 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(95): Show | 98 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(95): Show |
intron_variant | MODIFIER | c.9189+5371C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104356 | ||||||
chr1:180104382
|
T | A | 1 | a0002c0002t0002g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.9189+5397T>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104382 | ||||||
chr1:180104398
|
C | T | 138 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(135): Show | 138 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.9189+5413C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104398 | ||||||
chr1:180104413
|
A | G | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9189+5428A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104413 | ||||||
chr1:180104430
|
T | C | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9189+5445T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104430 | ||||||
chr1:180104657
|
G | A | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.9189+5672G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180104657 | ||||||
chr1:180105215
|
G | C | 1 | a0005c0005t0002g0142 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.9190-5782G>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105215 | ||||||
chr1:180105281
|
G | A | 3 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0189 | 3 | NA18612.hp2 NA18947.hp2 NA19083.hp1 |
intron_variant | MODIFIER | c.9190-5716G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105281 | ||||||
chr1:180105567
|
C | T | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.9190-5430C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105567 | ||||||
chr1:180105657
|
A | G | 1 | a0002c0016t0003g0046 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.9190-5340A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105657 | ||||||
chr1:180105704
|
A | G | 9 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(6): Show | 9 | HG01074.hp2 HG02723.hp2 HG02818.hp2 others(6): Show |
intron_variant | MODIFIER | c.9190-5293A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105704 | ||||||
chr1:180105878
|
A | G | 1 | a0001c0001t0001g0156 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.9190-5119A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180105878 | ||||||
chr1:180106253
|
A | G | 179 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(176): Show | 179 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(176): Show |
intron_variant | MODIFIER | c.9190-4744A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106253 | ||||||
chr1:180106298
|
A | G | 1 | a0004c0004t0003g0047 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.9190-4699A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106298 | ||||||
chr1:180106306
|
C | G | 1 | a0017c0021t0004g0031 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.9190-4691C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106306 | ||||||
chr1:180106357
|
A | G | 5 | a0002c0007t0002g0059a0002c0007t0002g0060a0002c0007t0002g0061others(2): Show | 5 | HG02258.hp1 HG03098.hp1 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.9190-4640A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106357 | ||||||
chr1:180106429
|
G | A | 1 | a0004c0004t0003g0053 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.9190-4568G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106429 | ||||||
chr1:180106523
|
C | T | 93 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(90): Show | 93 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.9190-4474C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106523 | ||||||
chr1:180106709
|
G | A | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9190-4288G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106709 | ||||||
chr1:180106722
|
G | A | 1 | a0003c0003t0002g0101 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.9190-4275G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106722 | ||||||
chr1:180106806
|
A | AT | 8 | a0001c0001t0001g0187a0001c0001t0001g0209a0005c0005t0002g0140others(5): Show | 8 | HG02809.hp1 HG03453.hp2 HG03471.hp2 others(5): Show |
intron_variant | MODIFIER | c.9190-4177dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180106806 | |||||
chr1:180106806
|
AT | A | 6 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(3): Show | 6 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.9190-4177delT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180106806 | |||||
chr1:180106806
|
ATT | A | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.9190-4178_9190-417 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180106806 | |||||
chr1:180106969
|
A | G | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9190-4028A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180106969 | ||||||
chr1:180107334
|
G | A | 4 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(1): Show | 4 | HG01192.hp1 HG02004.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.9190-3663G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107334 | ||||||
chr1:180107434
|
C | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9190-3563C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107434 | ||||||
chr1:180107524
|
C | T | 1 | a0001c0001t0001g0219 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.9190-3473C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107524 | ||||||
chr1:180107536
|
C | T | 20 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045others(17): Show | 20 | HG01346.hp1 HG01516.hp1 HG01517.hp1 others(17): Show |
intron_variant | MODIFIER | c.9190-3461C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107536 | ||||||
chr1:180107624
|
C | T | 1 | a0002c0020t0019g0010 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.9190-3373C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107624 | ||||||
chr1:180107664
|
G | A | 3 | a0002c0002t0003g0043a0002c0002t0003g0044a0002c0002t0003g0045 | 3 | HG02055.hp1 HG02451.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.9190-3333G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107664 | ||||||
chr1:180107683
|
C | G | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-3314C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107683 | ||||||
chr1:180107687
|
C | T | 1 | a0005c0005t0002g0139 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.9190-3310C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107687 | ||||||
chr1:180107830
|
A | AAAAAC | 95 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(92): Show | 95 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(92): Show |
intron_variant | MODIFIER | c.9190-3142_9190-313 others(9): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180107830 | |||||
chr1:180107915
|
A | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9190-3082A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107915 | ||||||
chr1:180107947
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9190-3050G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180107947 | ||||||
chr1:180108240
|
T | C | 6 | a0006c0006t0002g0041a0006c0006t0002g0228a0006c0006t0002g0229others(3): Show | 6 | HG01074.hp2 HG02723.hp2 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-2757T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108240 | ||||||
chr1:180108334
|
A | G | 17 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(14): Show | 17 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(14): Show |
intron_variant | MODIFIER | c.9190-2663A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108334 | ||||||
chr1:180108352
|
G | T | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9190-2645G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108352 | ||||||
chr1:180108446
|
G | A | 1 | a0004c0004t0003g0053 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.9190-2551G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108446 | ||||||
chr1:180108466
|
C | T | 8 | a0002c0002t0004g0020a0002c0002t0004g0030a0002c0002t0004g0032others(5): Show | 8 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.9190-2531C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108466 | ||||||
chr1:180108517
|
G | A | 1 | a0003c0003t0002g0087 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.9190-2480G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108517 | ||||||
chr1:180108519
|
G | A | 1 | a0019c0017t0001g0162 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.9190-2478G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108519 | ||||||
chr1:180108542
|
T | C | 1 | a0015c0024t0001g0155 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.9190-2455T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108542 | ||||||
chr1:180108558
|
G | A | 1 | a0007c0031t0006g0017 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.9190-2439G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108558 | ||||||
chr1:180108645
|
A | T | 1 | a0001c0001t0001g0202 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.9190-2352A>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108645 | ||||||
chr1:180108841
|
C | G | 24 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(21): Show | 24 | HG00323.hp1 HG00558.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.9190-2156C>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108841 | ||||||
chr1:180108879
|
G | A | 5 | a0002c0002t0002g0003a0002c0002t0002g0004a0002c0002t0002g0005others(2): Show | 5 | HG01243.hp1 HG02809.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.9190-2118G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180108879 | ||||||
chr1:180109123
|
C | CT | 111 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(108): Show | 111 | HG00323.hp1 HG00323.hp2 HG00544.hp2 others(108): Show |
intron_variant | MODIFIER | c.9190-1859dupT | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180109123 | |||||
chr1:180109123
|
C | CTT | 18 | a0002c0002t0004g0020a0002c0002t0004g0021a0002c0002t0004g0022others(15): Show | 18 | HG00558.hp2 HG00597.hp1 HG00738.hp1 others(15): Show |
intron_variant | MODIFIER | c.9190-1860_9190-185 others(6): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180109123 | |||||
chr1:180109211
|
C | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-1786C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109211 | ||||||
chr1:180109370
|
C | T | 1 | a0002c0002t0007g0068 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.9190-1627C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109370 | ||||||
chr1:180109371
|
G | A | 1 | a0001c0001t0001g0150 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.9190-1626G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109371 | ||||||
chr1:180109414
|
G | A | 6 | a0007c0008t0006g0013a0007c0008t0006g0014a0007c0008t0006g0015others(3): Show | 6 | HG00323.hp1 HG00738.hp2 HG01123.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-1583G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109414 | ||||||
chr1:180109447
|
T | C | 1 | a0002c0002t0004g0020 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.9190-1550T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109447 | ||||||
chr1:180109464
|
A | G | 4 | a0004c0004t0003g0048a0004c0004t0003g0053a0004c0004t0003g0055others(1): Show | 4 | HG02280.hp2 HG02965.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.9190-1533A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109464 | ||||||
chr1:180109601
|
G | A | 1 | a0001c0001t0001g0241 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.9190-1396G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109601 | ||||||
chr1:180109636
|
G | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-1361G>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109636 | ||||||
chr1:180109674
|
C | T | 1 | a0003c0003t0002g0109 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.9190-1323C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109674 | ||||||
chr1:180109722
|
G | A | 1 | a0017c0021t0004g0031 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.9190-1275G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109722 | ||||||
chr1:180109781
|
G | A | 1 | a0001c0001t0001g0186 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.9190-1216G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109781 | ||||||
chr1:180109782
|
C | T | 2 | a0010c0029t0010g0011a0022c0028t0010g0012 | 2 | NA19030.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.9190-1215C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109782 | ||||||
chr1:180109924
|
C | T | 1 | a0002c0002t0002g0128 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.9190-1073C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180109924 | ||||||
chr1:180110092
|
TTAAAA | T | 3 | a0009c0010t0002g0238a0009c0010t0002g0239a0009c0010t0002g0240 | 3 | HG02818.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.9190-900_9190-896d others(7): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | 180110092 | |||||
chr1:180110209
|
T | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-788T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110209 | ||||||
chr1:180110241
|
A | G | 1 | a0002c0002t0003g0045 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.9190-756A>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110241 | ||||||
chr1:180110273
|
C | A | 1 | a0001c0001t0001g0174 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.9190-724C>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110273 | ||||||
chr1:180110316
|
G | A | 1 | a0023c0030t0001g0218 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.9190-681G>A | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110316 | ||||||
chr1:180110420
|
T | C | 4 | a0002c0002t0002g0244a0002c0002t0002g0245a0002c0002t0002g0247others(1): Show | 4 | HG02109.hp1 HG02486.hp1 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.9190-577T>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110420 | ||||||
chr1:180110590
|
A | C | 6 | a0002c0020t0019g0010a0008c0009t0008g0007a0008c0009t0008g0008others(3): Show | 6 | HG02723.hp1 HG02809.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.9190-407A>C | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110590 | ||||||
chr1:180110924
|
C | T | 1 | a0001c0001t0001g0037 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.9190-73C>T | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110924 | ||||||
chr1:180110980
|
T | G | 88 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(85): Show | 88 | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(85): Show |
intron_variant | MODIFIER | c.9190-17T>G | CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | chr1 | 180110980 |