geneid | 728036 |
---|---|
ensemblid | ENSG00000224089.3 |
hgncid | 33291 |
symbol | CT47A10 |
name | cancer/testis antigen family 47 member A10 |
refseq_nuc | NM_001080137.2 |
refseq_prot | NP_001073606.1 |
ensembl_nuc | ENST00000430448.3 |
ensembl_prot | ENSP00000411909.2 |
mane_status | MANE Select |
chr | chrX |
start | 120938701 |
end | 120942023 |
strand | - |
ver | v1.2 |
region | chrX:120938701-120942023 |
region5000 | chrX:120933701-120947023 |
regionname0 | CT47A10_chrX_120938701_120942023 |
regionname5000 | CT47A10_chrX_120933701_120947023 |
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 | 288 | 6 | 0 | 0 | 6 | 0 | 0 | 5 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
a0002 | 0/0 | 31 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
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 | 867 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
c0002 | 0/0 | 871 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
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 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
t0002 | 0/0 | 431 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
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 | 0 | 0 | 2 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
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 | 867 | 6 | 0 | 0 | 6 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
a0002c0002 | 0/0 | 871 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1298 | 5 | 0 | 0 | 5 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
a0001c0001t0002 | 0/0 | 1297 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
a0002c0002t0001 | 0/0 | 1302 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | copy fasta | chrX | 120933701 | 120947023 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
a0001c0001t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
a0001c0001t0002g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
a0002c0002t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00597 | hp1 | a0002 | c0002 | t0001 | g0005 | EAS | CHS | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
NA18959 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
NA18967 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
NA19086 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT47A10_chrX_120933701_120947023 | CT47A10 | chrX | 120933701 | 120947023 |
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:120941044
|
G | C | 1 | a0002 | 1 | HG00597.hp1 | missense_variant | MODERATE | c.721C>G | p.Gln241Glu | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 1/3 | 980/1298 | 721/867 | 241/288 | chrX | 120941044 | ||
chrX:120941045
|
T | TG | 1 | a0002 | 1 | HG00597.hp1 | frameshift_variant | HIGH | c.719dupC | p.Gln241fs | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 1/3 | 978/1298 | 719/867 | 240/288 | chrX | 120941045 | ||
chrX:120941059
|
C | CTG | 1 | a0002 | 1 | HG00597.hp1 | frameshift_variant | HIGH | c.704_705dupCA | p.Glu236fs | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 1/3 | 964/1298 | 705/867 | 235/288 | chrX | 120941059 | ||
chrX:120941699
|
T | TC | 1 | a0002 | 1 | HG00597.hp1 | frameshift_variant | HIGH | c.65dupG | p.Ala23fs | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 1/3 | 324/1298 | 65/867 | 22/288 | chrX | 120941699 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:120938731
|
AT | A | 1 | a0001c0001t0002 | 1 | NA18959.hp1 | 3_prime_UTR_variant | MODIFIER | c.*141delA | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 3/3 | 1279 | chrX | 120938731 |
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:120938895
|
A | G | 1 | a0001c0001t0001g0003 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.*32-54T>C | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 2/2 | chrX | 120938895 | ||||||
chrX:120939768
|
G | A | 1 | a0001c0001t0001g0002 | 2 | NA18967.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.*31+212C>T | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 2/2 | chrX | 120939768 | ||||||
chrX:120940943
|
G | GC | 1 | a0002c0002t0001g0005 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.742+79dupG | CT47A10 | ENSG00000224089.3 | transcript | ENST00000430448.3 | protein_coding | 1/2 | chrX | 120940943 |