geneid | 728049 |
---|---|
ensemblid | ENSG00000230347.5 |
hgncid | 33289 |
symbol | CT47A8 |
name | cancer/testis antigen family 47 member A8 |
refseq_nuc | NM_001080139.2 |
refseq_prot | NP_001073608.1 |
ensembl_nuc | ENST00000457977.3 |
ensembl_prot | ENSP00000400046.2 |
mane_status | MANE Select |
chr | chrX |
start | 120948422 |
end | 120951744 |
strand | - |
ver | v1.2 |
region | chrX:120948422-120951744 |
region5000 | chrX:120943422-120956744 |
regionname0 | CT47A8_chrX_120948422_120951744 |
regionname5000 | CT47A8_chrX_120943422_120956744 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 288 | 5 | 0 | 0 | 3 | 1 | 1 | 2 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
a0002 | 0/0 | 288 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
a0003 | 0/0 | 202 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 867 | 5 | 0 | 0 | 3 | 1 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
c0002 | 0/0 | 868 | 1 | 0 | 0 | 0 | 0 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
c0003 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 432 | 7 | 0 | 0 | 4 | 1 | 2 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 4 | 0 | 0 | 2 | 1 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 867 | 5 | 0 | 0 | 3 | 1 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
a0002c0003 | 0/0 | 867 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
a0003c0002 | 0/0 | 868 | 1 | 0 | 0 | 0 | 0 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1298 | 5 | 0 | 0 | 3 | 1 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
a0002c0003t0001 | 0/0 | 1298 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
a0003c0002t0001 | 0/0 | 1299 | 1 | 0 | 0 | 0 | 0 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | copy fasta | chrX | 120943422 | 120956744 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 4 | 0 | 0 | 2 | 1 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
a0002c0003t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
a0003c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
HG00621 | hp1 | a0002 | c0003 | t0001 | g0004 | EAS | CHS | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
HG03927 | hp1 | a0003 | c0002 | t0001 | g0002 | SAS | BEB | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
HG03927 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A8_chrX_120943422_120956744 | CT47A8 | chrX | 120943422 | 120956744 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:120950986
|
G | A | 1 | a0002 | 1 | HG00621.hp1 | missense_variant | MODERATE | c.500C>T | p.Pro167Leu | CT47A8 | ENSG00000230347.5 | transcript | ENST00000457977.3 | protein_coding | 1/3 | 759/1298 | 500/867 | 167/288 | chrX | 120950986 | ||
chrX:120951141
|
C | CG | 1 | a0003 | 1 | HG03927.hp1 | frameshift_variant | HIGH | c.344dupC | p.Ala116fs | CT47A8 | ENSG00000230347.5 | transcript | ENST00000457977.3 | protein_coding | 1/3 | 603/1298 | 344/867 | 115/288 | chrX | 120951141 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:120949489
|
G | A | 3 | a0001c0001t0001g0001a0002c0003t0001g0004a0003c0002t0001g0002 | 6 | HG00140.hp1 HG00621.hp1 HG02056.hp1 others(3): Show |
intron_variant | MODIFIER | c.*31+212C>T | CT47A8 | ENSG00000230347.5 | transcript | ENST00000457977.3 | protein_coding | 2/2 | chrX | 120949489 |