geneid | 102723859 |
---|---|
ensemblid | ENSG00000278599.6 |
hgncid | 27071 |
symbol | TBC1D3E |
name | TBC1 domain family member 3E |
refseq_nuc | NM_001291466.2 |
refseq_prot | NP_001278395.1 |
ensembl_nuc | ENST00000621587.2 |
ensembl_prot | ENSP00000483965.1 |
mane_status | MANE Select |
chr | chr17 |
start | 38127951 |
end | 38138868 |
strand | + |
ver | v1.2 |
region | chr17:38127951-38138868 |
region5000 | chr17:38122951-38143868 |
regionname0 | TBC1D3E_chr17_38127951_38138868 |
regionname5000 | TBC1D3E_chr17_38122951_38143868 |
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 | 0/0 | 549 | 8 | 5 | 1 | 2 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002 | 0/0 | 549 | 8 | 7 | 0 | 1 | 0 | 0 | 1 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0003 | 0/0 | 549 | 6 | 0 | 1 | 5 | 0 | 0 | 3 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004 | 0/0 | 549 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0005 | 0/0 | 549 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0006 | 0/0 | 549 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
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 | 0/0 | 1650 | 6 | 0 | 1 | 5 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0002 | 0/0 | 1650 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0003 | 0/0 | 1650 | 3 | 2 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0004 | 0/0 | 1650 | 3 | 1 | 1 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0005 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0006 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0007 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0008 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0009 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0010 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0011 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0012 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0013 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0014 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0015 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0016 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
c0017 | 0/0 | 1650 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
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 | 0/0 | 432 | 14 | 9 | 1 | 4 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
t0002 | 0/0 | 432 | 13 | 8 | 1 | 4 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
t0003 | 0/0 | 432 | 4 | 4 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
t0004 | 0/0 | 432 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
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 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0004 | 0/0 | 1650 | 3 | 1 | 1 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0005 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0007 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0017 | 0/0 | 1650 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0002 | 0/0 | 1650 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0003 | 0/0 | 1650 | 3 | 2 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0009 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0010 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0003c0001 | 0/0 | 1650 | 6 | 0 | 1 | 5 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004c0006 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004c0008 | 0/0 | 1650 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004c0015 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0005c0013 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0005c0014 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0005c0016 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0006c0011 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0006c0012 | 0/0 | 1650 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0004t0001 | 0/0 | 2081 | 2 | 1 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0004t0002 | 0/0 | 2081 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0005t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0005t0004 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0007t0002 | 0/0 | 2081 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0001c0017t0001 | 0/0 | 2081 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0002t0003 | 0/0 | 2081 | 3 | 3 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0003t0001 | 0/0 | 2081 | 3 | 2 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0009t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0002c0010t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0003c0001t0001 | 0/0 | 2081 | 2 | 0 | 0 | 2 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0003c0001t0002 | 0/0 | 2081 | 4 | 0 | 1 | 3 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004c0006t0002 | 0/0 | 2081 | 2 | 2 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004c0008t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004c0008t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0004c0015t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0005c0013t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0005c0014t0002 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0005c0016t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0006c0011t0003 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
a0006c0012t0001 | 0/0 | 2081 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | copy fasta | chr17 | 38122951 | 38143868 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0004t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0001c0004t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0001c0004t0002g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0001c0005t0002g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0001c0005t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0001c0007t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0001c0007t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0001c0017t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0002t0003g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0002t0003g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0002t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0003t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0003t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0003t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0009t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0002c0010t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0003c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0003c0001t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0003c0001t0002g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0003c0001t0002g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0003c0001t0002g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0003c0001t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0004c0006t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0004c0006t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0004c0008t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0004c0008t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0004c0015t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0005c0013t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0005c0014t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0005c0016t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0006c0011t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
a0006c0012t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00738 | hp1 | a0003 | c0001 | t0002 | g0012 | AMR | PUR | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG00738 | hp2 | a0001 | c0004 | t0001 | g0023 | AMR | PUR | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02040 | hp1 | a0003 | c0001 | t0001 | g0032 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02040 | hp2 | a0001 | c0004 | t0002 | g0021 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02074 | hp1 | a0003 | c0001 | t0002 | g0015 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02074 | hp2 | a0001 | c0017 | t0001 | g0005 | EAS | KHV | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02145 | hp1 | a0002 | c0003 | t0001 | g0006 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02145 | hp2 | a0004 | c0008 | t0001 | g0025 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02717 | hp1 | a0002 | c0002 | t0003 | g0003 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02717 | hp2 | a0005 | c0014 | t0002 | g0008 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02723 | hp1 | a0001 | c0007 | t0002 | g0009 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02723 | hp2 | a0002 | c0002 | t0003 | g0001 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02818 | hp1 | a0004 | c0008 | t0002 | g0011 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02818 | hp2 | a0001 | c0005 | t0002 | g0010 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02895 | hp1 | a0001 | c0004 | t0001 | g0019 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02895 | hp2 | a0002 | c0009 | t0001 | g0024 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02897 | hp1 | a0002 | c0010 | t0001 | g0029 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02897 | hp2 | a0001 | c0007 | t0002 | g0026 | AFR | GWD | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG03098 | hp1 | a0002 | c0002 | t0003 | g0002 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG03098 | hp2 | a0005 | c0013 | t0001 | g0028 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG03209 | hp1 | a0002 | c0003 | t0001 | g0004 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG03209 | hp2 | a0001 | c0005 | t0004 | g0027 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG03453 | hp1 | a0006 | c0011 | t0003 | g0007 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG03453 | hp2 | a0004 | c0006 | t0002 | g0016 | AFR | MSL | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
NA18946 | hp1 | a0003 | c0001 | t0001 | g0031 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
NA18946 | hp2 | a0002 | c0003 | t0001 | g0030 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
NA19066 | hp1 | a0003 | c0001 | t0002 | g0013 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
NA19066 | hp2 | a0003 | c0001 | t0002 | g0014 | EAS | JPT | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
NA19240 | hp1 | a0004 | c0006 | t0002 | g0017 | AFR | YRI | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
NA19240 | hp2 | a0005 | c0016 | t0001 | g0018 | AFR | YRI | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02559 | hp1 | a0006 | c0012 | t0001 | g0020 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
HG02559 | hp2 | a0004 | c0015 | t0002 | g0022 | AFR | ACB | TBC1D3E_chr17_38122951_38143868 | TBC1D3E | chr17 | 38122951 | 38143868 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:38132155
|
A | G | 6 | a0001a0002a0003others(3): Show | 32 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(29): Show |
missense_variant | MODERATE | c.290A>G | p.Gln97Arg | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 6/14 | 407/2082 | 290/1650 | 97/549 | chr17 | 38132155 | ||
chr17:38132215
|
C | T | 4 | a0001a0003a0004others(1): Show | 22 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(19): Show |
missense_variant | MODERATE | c.350C>T | p.Thr117Ile | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 6/14 | 467/2082 | 350/1650 | 117/549 | chr17 | 38132215 | ||
chr17:38132604
|
A | G | 6 | a0001a0002a0003others(3): Show | 32 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(29): Show |
missense_variant | MODERATE | c.410A>G | p.Lys137Arg | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/14 | 527/2082 | 410/1650 | 137/549 | chr17 | 38132604 | ||
chr17:38136982
|
A | C | 2 | a0004a0006 | 7 | HG02145.hp2 HG02559.hp1 HG02559.hp2 others(4): Show |
missense_variant | MODERATE | c.1060A>C | p.Lys354Gln | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/14 | 1177/2082 | 1060/1650 | 354/549 | chr17 | 38136982 | ||
chr17:38138120
|
C | T | 2 | a0003a0005 | 9 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(6): Show |
missense_variant | MODERATE | c.1217C>T | p.Pro406Leu | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 1334/2082 | 1217/1650 | 406/549 | chr17 | 38138120 | ||
chr17:38138342
|
T | C | 1 | a0003 | 6 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(3): Show |
missense_variant | MODERATE | c.1439T>C | p.Val480Ala | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 1556/2082 | 1439/1650 | 480/549 | chr17 | 38138342 | ||
chr17:38138354
|
C | A | 1 | a0003 | 6 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(3): Show |
missense_variant | MODERATE | c.1451C>A | p.Ser484Tyr | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 1568/2082 | 1451/1650 | 484/549 | chr17 | 38138354 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:38132651
|
T | C | 2 | a0001c0005a0002c0009 | 3 | HG02818.hp2 HG02895.hp2 HG03209.hp2 |
synonymous_variant | LOW | c.457T>C | p.Leu153Leu | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/14 | 574/2082 | 457/1650 | 153/549 | chr17 | 38132651 | ||
chr17:38133989
|
C | T | 7 | a0001c0004a0001c0017a0002c0003others(4): Show | 17 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(14): Show |
synonymous_variant | LOW | c.540C>T | p.Tyr180Tyr | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/14 | 657/2082 | 540/1650 | 180/549 | chr17 | 38133989 | ||
chr17:38134652
|
C | T | 2 | a0001c0017a0006c0012 | 2 | HG02074.hp2 HG02559.hp1 |
synonymous_variant | LOW | c.660C>T | p.Ser220Ser | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/14 | 777/2082 | 660/1650 | 220/549 | chr17 | 38134652 | ||
chr17:38136441
|
C | T | 14 | a0001c0004a0001c0005a0001c0007others(11): Show | 26 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(23): Show |
synonymous_variant | LOW | c.889C>T | p.Leu297Leu | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/14 | 1006/2082 | 889/1650 | 297/549 | chr17 | 38136441 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:38127953
|
C | G | 9 | a0001c0004t0002a0001c0005t0002a0001c0005t0004others(6): Show | 14 | HG00738.hp1 HG02040.hp2 HG02074.hp1 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-115C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/14 | 1543 | chr17 | 38127953 | |||||
chr17:38138734
|
A | G | 3 | a0001c0005t0004a0002c0002t0003a0006c0011t0003 | 5 | HG02717.hp1 HG02723.hp2 HG03098.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*181A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 14/14 | 181 | chr17 | 38138734 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:38128125
|
G | A | 4 | a0002c0002t0003g0001a0002c0002t0003g0002a0002c0002t0003g0003others(1): Show | 4 | HG02717.hp1 HG02723.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.-2+59G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128125 | ||||||
chr17:38128185
|
C | T | 3 | a0002c0003t0001g0030a0003c0001t0001g0031a0003c0001t0001g0032 | 3 | HG02040.hp1 NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.-2+119C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128185 | ||||||
chr17:38128225
|
G | A | 1 | a0001c0017t0001g0005 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-2+159G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128225 | ||||||
chr17:38128275
|
C | T | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-2+209C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128275 | ||||||
chr17:38128334
|
T | C | 31 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(28): Show | 31 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(28): Show |
intron_variant | MODIFIER | c.-2+268T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128334 | ||||||
chr17:38128462
|
CAGAGCCA others(7): Show |
C | 4 | a0001c0005t0002g0010a0001c0007t0002g0009a0005c0014t0002g0008others(1): Show | 4 | HG02717.hp2 HG02723.hp1 HG02818.hp2 others(1): Show |
intron_variant | MODIFIER | c.-2+410_-2+423delTA others(12): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | 38128462 | |||||
chr17:38128473
|
G | A | 1 | a0002c0003t0001g0006 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-2+407G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128473 | ||||||
chr17:38128584
|
GGGGGAGC others(11): Show |
G | 4 | a0002c0002t0003g0001a0002c0002t0003g0002a0002c0002t0003g0003others(1): Show | 4 | HG02717.hp1 HG02723.hp2 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.-2+522_-2+539delGA others(16): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr17 | 38128584 | |||||
chr17:38128609
|
C | G | 1 | a0005c0013t0001g0028 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-2+543C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128609 | ||||||
chr17:38128716
|
C | T | 1 | a0002c0003t0001g0004 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-2+650C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128716 | ||||||
chr17:38128730
|
G | A | 8 | a0002c0003t0001g0030a0003c0001t0001g0031a0003c0001t0001g0032others(5): Show | 8 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(5): Show |
intron_variant | MODIFIER | c.-2+664G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128730 | ||||||
chr17:38128789
|
C | T | 3 | a0002c0003t0001g0030a0003c0001t0001g0031a0003c0001t0001g0032 | 3 | HG02040.hp1 NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.-1-706C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128789 | ||||||
chr17:38128922
|
T | C | 14 | a0001c0004t0001g0019a0001c0005t0002g0010a0001c0007t0002g0009others(11): Show | 14 | HG00738.hp1 HG02040.hp1 HG02717.hp2 others(11): Show |
intron_variant | MODIFIER | c.-1-573T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128922 | ||||||
chr17:38128930
|
C | T | 1 | a0006c0011t0003g0007 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-1-565C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38128930 | ||||||
chr17:38129002
|
C | T | 2 | a0001c0005t0004g0027a0001c0007t0002g0026 | 2 | HG02897.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.-1-493C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129002 | ||||||
chr17:38129254
|
A | T | 1 | a0003c0001t0002g0015 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.-1-241A>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129254 | ||||||
chr17:38129296
|
T | C | 1 | a0002c0003t0001g0004 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-1-199T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129296 | ||||||
chr17:38129464
|
G | A | 18 | a0001c0004t0001g0023a0001c0004t0002g0021a0001c0005t0002g0010others(15): Show | 18 | HG00738.hp1 HG00738.hp2 HG02040.hp2 others(15): Show |
intron_variant | MODIFIER | c.-1-31G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 1/13 | chr17 | 38129464 | ||||||
chr17:38129842
|
C | T | 1 | a0001c0005t0002g0010 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.158+27C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38129842 | ||||||
chr17:38129884
|
A | T | 1 | a0004c0008t0001g0025 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.158+69A>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38129884 | ||||||
chr17:38130016
|
G | A | 1 | a0004c0008t0001g0025 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.158+201G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130016 | ||||||
chr17:38130203
|
C | G | 2 | a0001c0007t0002g0009a0005c0014t0002g0008 | 2 | HG02717.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.158+388C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130203 | ||||||
chr17:38130217
|
A | G | 1 | a0002c0003t0001g0006 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.158+402A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130217 | ||||||
chr17:38130547
|
A | C | 1 | a0002c0009t0001g0024 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.159-552A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130547 | ||||||
chr17:38130564
|
T | C | 5 | a0001c0004t0002g0021a0002c0002t0003g0001a0002c0002t0003g0002others(2): Show | 5 | HG02040.hp2 HG02559.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.159-535T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130564 | ||||||
chr17:38130625
|
G | A | 2 | a0001c0017t0001g0005a0004c0008t0001g0025 | 2 | HG02074.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.159-474G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130625 | ||||||
chr17:38130626
|
T | C | 1 | a0002c0009t0001g0024 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.159-473T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130626 | ||||||
chr17:38130825
|
C | G | 2 | a0001c0017t0001g0005a0004c0008t0001g0025 | 2 | HG02074.hp2 HG02145.hp2 |
intron_variant | MODIFIER | c.159-274C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130825 | ||||||
chr17:38130924
|
C | G | 3 | a0002c0003t0001g0030a0003c0001t0001g0031a0003c0001t0001g0032 | 3 | HG02040.hp1 NA18946.hp1 NA18946.hp2 |
intron_variant | MODIFIER | c.159-175C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130924 | ||||||
chr17:38130983
|
G | A | 1 | a0006c0012t0001g0020 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.159-116G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38130983 | ||||||
chr17:38131033
|
G | A | 3 | a0002c0002t0003g0001a0002c0002t0003g0002a0002c0002t0003g0003 | 3 | HG02717.hp1 HG02723.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.159-66G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 3/13 | chr17 | 38131033 | ||||||
chr17:38131232
|
C | T | 1 | a0002c0002t0003g0003 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.198+94C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 4/13 | chr17 | 38131232 | ||||||
chr17:38131319
|
A | G | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.198+181A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 4/13 | chr17 | 38131319 | ||||||
chr17:38131365
|
C | T | 3 | a0002c0002t0003g0001a0002c0002t0003g0002a0002c0002t0003g0003 | 3 | HG02717.hp1 HG02723.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.198+227C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 4/13 | chr17 | 38131365 | ||||||
chr17:38131833
|
G | A | 1 | a0006c0012t0001g0020 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.279+132G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 5/13 | chr17 | 38131833 | ||||||
chr17:38131932
|
T | G | 2 | a0001c0004t0002g0021a0002c0003t0001g0030 | 2 | HG02040.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.280-213T>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 5/13 | chr17 | 38131932 | ||||||
chr17:38132492
|
G | A | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.388-90G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 6/13 | chr17 | 38132492 | ||||||
chr17:38132773
|
G | A | 1 | a0002c0003t0001g0006 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.497+82G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38132773 | ||||||
chr17:38132994
|
T | C | 32 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(29): Show | 32 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(29): Show |
intron_variant | MODIFIER | c.497+303T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38132994 | ||||||
chr17:38133030
|
G | C | 20 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(17): Show | 20 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(17): Show |
intron_variant | MODIFIER | c.497+339G>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133030 | ||||||
chr17:38133452
|
A | C | 13 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(10): Show | 13 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(10): Show |
intron_variant | MODIFIER | c.498-495A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133452 | ||||||
chr17:38133522
|
C | T | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.498-425C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133522 | ||||||
chr17:38133637
|
T | C | 28 | a0001c0004t0001g0023a0001c0004t0002g0021a0001c0005t0002g0010others(25): Show | 28 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(25): Show |
intron_variant | MODIFIER | c.498-310T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133637 | ||||||
chr17:38133696
|
GA | G | 12 | a0001c0005t0002g0010a0001c0007t0002g0009a0002c0002t0003g0001others(9): Show | 12 | HG00738.hp1 HG02040.hp1 HG02145.hp2 others(9): Show |
intron_variant | MODIFIER | c.498-234delA | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38133696 | |||||
chr17:38133696
|
GAA | G | 6 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(3): Show | 6 | HG00738.hp2 HG02040.hp2 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.498-235_498-234del others(2): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38133696 | |||||
chr17:38133696
|
GAAAAAAA | G | 5 | a0002c0003t0001g0006a0002c0003t0001g0030a0002c0009t0001g0024others(2): Show | 5 | HG02145.hp1 HG02818.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.498-240_498-234del others(7): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr17 | 38133696 | |||||
chr17:38133782
|
T | A | 1 | a0006c0012t0001g0020 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.498-165T>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133782 | ||||||
chr17:38133805
|
G | A | 22 | a0001c0004t0001g0023a0001c0004t0002g0021a0001c0005t0002g0010others(19): Show | 22 | HG00738.hp2 HG02040.hp2 HG02074.hp2 others(19): Show |
intron_variant | MODIFIER | c.498-142G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133805 | ||||||
chr17:38133846
|
A | C | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.498-101A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 7/13 | chr17 | 38133846 | ||||||
chr17:38134008
|
G | A | 3 | a0002c0002t0003g0001a0002c0002t0003g0002a0002c0002t0003g0003 | 3 | HG02717.hp1 HG02723.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.546+13G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134008 | ||||||
chr17:38134083
|
A | C | 12 | a0001c0005t0002g0010a0001c0005t0004g0027a0001c0007t0002g0009others(9): Show | 12 | HG02559.hp2 HG02717.hp1 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.546+88A>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134083 | ||||||
chr17:38134160
|
G | A | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.546+165G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134160 | ||||||
chr17:38134190
|
A | G | 4 | a0001c0005t0004g0027a0004c0006t0002g0016a0004c0006t0002g0017others(1): Show | 4 | HG03098.hp2 HG03209.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.546+195A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134190 | ||||||
chr17:38134503
|
G | A | 1 | a0006c0012t0001g0020 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.547-36G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 8/13 | chr17 | 38134503 | ||||||
chr17:38134662
|
T | A | 32 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(29): Show | 32 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(29): Show |
splice_region_variant&intron_variant | LOW | c.667+3T>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134662 | ||||||
chr17:38134721
|
A | G | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.667+62A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134721 | ||||||
chr17:38134753
|
C | T | 1 | a0004c0008t0002g0011 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.667+94C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134753 | ||||||
chr17:38134761
|
G | A | 1 | a0004c0008t0002g0011 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.667+102G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134761 | ||||||
chr17:38134784
|
G | A | 10 | a0001c0004t0001g0019a0002c0002t0003g0001a0002c0002t0003g0002others(7): Show | 10 | HG00738.hp1 HG02074.hp1 HG02717.hp1 others(7): Show |
intron_variant | MODIFIER | c.667+125G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134784 | ||||||
chr17:38134843
|
C | T | 1 | a0003c0001t0002g0015 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.667+184C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134843 | ||||||
chr17:38134848
|
C | G | 13 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0005t0002g0010others(10): Show | 13 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(10): Show |
intron_variant | MODIFIER | c.667+189C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134848 | ||||||
chr17:38134871
|
T | C | 1 | a0002c0010t0001g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.667+212T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134871 | ||||||
chr17:38134985
|
T | C | 1 | a0004c0008t0002g0011 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.667+326T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38134985 | ||||||
chr17:38135010
|
T | C | 7 | a0001c0004t0001g0019a0002c0003t0001g0004a0002c0003t0001g0006others(4): Show | 7 | HG02145.hp1 HG02895.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.667+351T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135010 | ||||||
chr17:38135016
|
G | A | 1 | a0006c0011t0003g0007 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.667+357G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135016 | ||||||
chr17:38135057
|
C | T | 19 | a0001c0004t0001g0019a0001c0007t0002g0026a0001c0017t0001g0005others(16): Show | 19 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(16): Show |
intron_variant | MODIFIER | c.668-316C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135057 | ||||||
chr17:38135116
|
A | G | 1 | a0003c0001t0002g0013 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.668-257A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135116 | ||||||
chr17:38135140
|
G | T | 1 | a0004c0008t0001g0025 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.668-233G>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135140 | ||||||
chr17:38135212
|
GC | G | 2 | a0001c0017t0001g0005a0006c0012t0001g0020 | 2 | HG02074.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.668-157delC | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | 38135212 | |||||
chr17:38135256
|
C | T | 24 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(21): Show | 24 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(21): Show |
intron_variant | MODIFIER | c.668-117C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 9/13 | chr17 | 38135256 | ||||||
chr17:38135531
|
G | C | 1 | a0002c0009t0001g0024 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.762+64G>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135531 | ||||||
chr17:38135581
|
G | T | 7 | a0001c0004t0001g0023a0001c0004t0002g0021a0001c0005t0002g0010others(4): Show | 7 | HG00738.hp2 HG02040.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.762+114G>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135581 | ||||||
chr17:38135584
|
C | T | 31 | a0001c0004t0001g0019a0001c0004t0001g0023a0001c0004t0002g0021others(28): Show | 31 | HG00738.hp1 HG00738.hp2 HG02040.hp1 others(28): Show |
intron_variant | MODIFIER | c.762+117C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135584 | ||||||
chr17:38135677
|
G | A | 6 | a0001c0004t0001g0023a0001c0004t0002g0021a0001c0005t0002g0010others(3): Show | 6 | HG00738.hp2 HG02040.hp2 HG02145.hp2 others(3): Show |
intron_variant | MODIFIER | c.763-175G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135677 | ||||||
chr17:38135807
|
T | G | 1 | a0002c0002t0003g0001 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.763-45T>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 10/13 | chr17 | 38135807 | ||||||
chr17:38136044
|
C | T | 1 | a0001c0007t0002g0009 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.828+127C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136044 | ||||||
chr17:38136152
|
A | G | 10 | a0001c0004t0001g0019a0001c0007t0002g0009a0003c0001t0001g0031others(7): Show | 10 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.829-229A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136152 | ||||||
chr17:38136167
|
G | A | 1 | a0002c0003t0001g0006 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.829-214G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136167 | ||||||
chr17:38136204
|
A | G | 5 | a0001c0005t0002g0010a0001c0005t0004g0027a0001c0007t0002g0026others(2): Show | 5 | HG02559.hp2 HG02818.hp2 HG02897.hp2 others(2): Show |
intron_variant | MODIFIER | c.829-177A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136204 | ||||||
chr17:38136225
|
C | T | 1 | a0005c0013t0001g0028 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.829-156C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 11/13 | chr17 | 38136225 | ||||||
chr17:38136692
|
G | A | 2 | a0001c0017t0001g0005a0006c0012t0001g0020 | 2 | HG02074.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.929-159G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136692 | ||||||
chr17:38136696
|
C | T | 1 | a0006c0012t0001g0020 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.929-155C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136696 | ||||||
chr17:38136720
|
G | A | 2 | a0001c0017t0001g0005a0006c0012t0001g0020 | 2 | HG02074.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.929-131G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136720 | ||||||
chr17:38136722
|
G | A | 4 | a0001c0017t0001g0005a0005c0013t0001g0028a0006c0011t0003g0007others(1): Show | 4 | HG02074.hp2 HG02559.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.929-129G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136722 | ||||||
chr17:38136761
|
C | G | 2 | a0003c0001t0001g0031a0003c0001t0001g0032 | 2 | HG02040.hp1 NA18946.hp1 |
intron_variant | MODIFIER | c.929-90C>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136761 | ||||||
chr17:38136762
|
C | T | 10 | a0001c0004t0001g0019a0001c0007t0002g0009a0003c0001t0001g0031others(7): Show | 10 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.929-89C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 12/13 | chr17 | 38136762 | ||||||
chr17:38137058
|
A | G | 1 | a0004c0015t0002g0022 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1081+55A>G | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137058 | ||||||
chr17:38137478
|
AGGGCACA others(11): Show |
A | 3 | a0002c0009t0001g0024a0002c0010t0001g0029a0004c0008t0001g0025 | 3 | HG02145.hp2 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1081+480_1082-485d others(20): Show |
TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | 38137478 | |||||
chr17:38137532
|
T | C | 3 | a0001c0005t0002g0010a0001c0005t0004g0027a0001c0007t0002g0026 | 3 | HG02818.hp2 HG02897.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1082-453T>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137532 | ||||||
chr17:38137641
|
G | A | 3 | a0001c0004t0001g0023a0001c0004t0002g0021a0002c0003t0001g0030 | 3 | HG00738.hp2 HG02040.hp2 NA18946.hp2 |
intron_variant | MODIFIER | c.1082-344G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137641 | ||||||
chr17:38137782
|
G | C | 1 | a0006c0011t0003g0007 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1082-203G>C | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137782 | ||||||
chr17:38137817
|
C | T | 10 | a0001c0004t0001g0019a0001c0007t0002g0009a0003c0001t0001g0031others(7): Show | 10 | HG00738.hp1 HG02040.hp1 HG02074.hp1 others(7): Show |
intron_variant | MODIFIER | c.1082-168C>T | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137817 | ||||||
chr17:38137852
|
G | A | 1 | a0001c0004t0002g0021 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.1082-133G>A | TBC1D3E | ENSG00000278599.6 | transcript | ENST00000621587.2 | protein_coding | 13/13 | chr17 | 38137852 |