geneid | 100287178 |
---|---|
ensemblid | ENSG00000233136.3 |
hgncid | 44439 |
symbol | USP17L11 |
name | ubiquitin specific peptidase 17 like family member 11 |
refseq_nuc | NM_001256854.1 |
refseq_prot | NP_001243783.1 |
ensembl_nuc | ENST00000457736.1 |
ensembl_prot | ENSP00000400880.1 |
mane_status | MANE Select |
chr | chr4 |
start | 9215405 |
end | 9216997 |
strand | + |
ver | v1.2 |
region | chr4:9215405-9216997 |
region5000 | chr4:9210405-9221997 |
regionname0 | USP17L11_chr4_9215405_9216997 |
regionname5000 | USP17L11_chr4_9210405_9221997 |
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 | 413 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | copy fasta | chr4 | 9210405 | 9221997 |
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 | 1593 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | copy fasta | chr4 | 9210405 | 9221997 |
c0002 | 0/0 | 1593 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | copy fasta | chr4 | 9210405 | 9221997 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0000 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | chr4 | 9210405 | 9221997 |
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 | 0/0 | 1593 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | copy fasta | chr4 | 9210405 | 9221997 |
a0001c0002 | 0/0 | 1593 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | copy fasta | chr4 | 9210405 | 9221997 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0000 | 0/0 | 1593 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | copy fasta | chr4 | 9210405 | 9221997 |
a0001c0002t0000 | 0/0 | 1593 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | copy fasta | chr4 | 9210405 | 9221997 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0000g0000 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | chr4 | 9210405 | 9221997 |
a0001c0002t0000g0000 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | USP17L11_chr4_9210405_9221997 | USP17L11 | chr4 | 9210405 | 9221997 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01978 | hp1 | a0001 | c0001 | t0000 | g0000 | AMR | PEL | USP17L11_chr4_9210405_9221997 | USP17L11 | chr4 | 9210405 | 9221997 |
HG01978 | hp2 | a0001 | c0002 | t0000 | g0000 | AMR | PEL | USP17L11_chr4_9210405_9221997 | USP17L11 | chr4 | 9210405 | 9221997 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr4:9215413
|
C | G | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.9C>G | p.Asp3Glu | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 9/1593 | 9/1593 | 3/530 | chr4 | 9215413 | ||
chr4:9215478
|
C | T | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.74C>T | p.Pro25Leu | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 74/1593 | 74/1593 | 25/530 | chr4 | 9215478 | ||
chr4:9215571
|
C | T | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.167C>T | p.Ala56Val | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 167/1593 | 167/1593 | 56/530 | chr4 | 9215571 | ||
chr4:9215577
|
T | A | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.173T>A | p.Val58Glu | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 173/1593 | 173/1593 | 58/530 | chr4 | 9215577 | ||
chr4:9215961
|
A | C | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.557A>C | p.His186Pro | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 557/1593 | 557/1593 | 186/530 | chr4 | 9215961 | ||
chr4:9216332
|
A | C | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.928A>C | p.Thr310Pro | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 928/1593 | 928/1593 | 310/530 | chr4 | 9216332 | ||
chr4:9216333
|
C | A | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.929C>A | p.Thr310Lys | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 929/1593 | 929/1593 | 310/530 | chr4 | 9216333 | ||
chr4:9216612
|
C | T | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.1208C>T | p.Ala403Val | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 1208/1593 | 1208/1593 | 403/530 | chr4 | 9216612 | ||
chr4:9216646
|
C | A | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
stop_gained | HIGH | c.1242C>A | p.Cys414* | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 1242/1593 | 1242/1593 | 414/530 | chr4 | 9216646 | ||
chr4:9216896
|
G | C | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.1492G>C | p.Glu498Gln | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 1492/1593 | 1492/1593 | 498/530 | chr4 | 9216896 | ||
chr4:9216909
|
C | A | 1 | a0001 | 2 | HG01978.hp1 HG01978.hp2 |
missense_variant | MODERATE | c.1505C>A | p.Thr502Asn | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 1505/1593 | 1505/1593 | 502/530 | chr4 | 9216909 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr4:9215431
|
A | T | 2 | a0001c0001a0001c0002 | 2 | HG01978.hp1 HG01978.hp2 |
synonymous_variant | LOW | c.27A>T | p.Gly9Gly | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 27/1593 | 27/1593 | 9/530 | chr4 | 9215431 | ||
chr4:9215785
|
G | T | 2 | a0001c0001a0001c0002 | 2 | HG01978.hp1 HG01978.hp2 |
synonymous_variant | LOW | c.381G>T | p.Thr127Thr | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 381/1593 | 381/1593 | 127/530 | chr4 | 9215785 | ||
chr4:9215953
|
G | A | 2 | a0001c0001a0001c0002 | 2 | HG01978.hp1 HG01978.hp2 |
synonymous_variant | LOW | c.549G>A | p.Val183Val | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 549/1593 | 549/1593 | 183/530 | chr4 | 9215953 | ||
chr4:9216217
|
C | T | 2 | a0001c0001a0001c0002 | 2 | HG01978.hp1 HG01978.hp2 |
synonymous_variant | LOW | c.813C>T | p.Thr271Thr | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 813/1593 | 813/1593 | 271/530 | chr4 | 9216217 | ||
chr4:9216349
|
C | T | 1 | a0001c0002 | 1 | HG01978.hp2 | synonymous_variant | LOW | c.945C>T | p.Leu315Leu | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 945/1593 | 945/1593 | 315/530 | chr4 | 9216349 | ||
chr4:9216484
|
T | A | 2 | a0001c0001a0001c0002 | 2 | HG01978.hp1 HG01978.hp2 |
synonymous_variant | LOW | c.1080T>A | p.Thr360Thr | USP17L11 | ENSG00000233136.3 | transcript | ENST00000457736.1 | protein_coding | 1/1 | 1080/1593 | 1080/1593 | 360/530 | chr4 | 9216484 |
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 |
---|
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 |
---|