geneid | 442867 |
---|---|
ensemblid | ENSG00000183795.8 |
hgncid | 25449 |
symbol | BPY2B |
name | basic charge Y-linked 2B |
refseq_nuc | NM_001002760.1 |
refseq_prot | NP_001002760.1 |
ensembl_nuc | ENST00000382392.5 |
ensembl_prot | ENSP00000371829.1 |
mane_status | MANE Select |
chr | chrY |
start | 24618004 |
end | 24639207 |
strand | + |
ver | v1.2 |
region | chrY:24618004-24639207 |
region5000 | chrY:24613004-24644207 |
regionname0 | BPY2B_chrY_24618004_24639207 |
regionname5000 | BPY2B_chrY_24613004_24644207 |
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 | 106 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | BPY2B_chrY_24613004_24644207 | BPY2B | copy fasta | chrY | 24613004 | 24644207 |
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 | 321 | 2 | 0 | 0 | 2 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | copy fasta | chrY | 24613004 | 24644207 |
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 | 886 | 2 | 0 | 0 | 2 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | copy fasta | chrY | 24613004 | 24644207 |
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 | 0 | 0 | 1 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | chrY | 24613004 | 24644207 |
g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | chrY | 24613004 | 24644207 |
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 | 321 | 2 | 0 | 0 | 2 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | copy fasta | chrY | 24613004 | 24644207 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1206 | 2 | 0 | 0 | 2 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | copy fasta | chrY | 24613004 | 24644207 |
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 | 1 | 0 | 0 | 1 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | chrY | 24613004 | 24644207 |
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BPY2B_chrY_24613004_24644207 | BPY2B | chrY | 24613004 | 24644207 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
NA18974 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | BPY2B_chrY_24613004_24644207 | BPY2B | chrY | 24613004 | 24644207 |
NA18985 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | BPY2B_chrY_24613004_24644207 | BPY2B | chrY | 24613004 | 24644207 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrY:24618537
|
A | C | 1 | a0001c0001t0001g0002 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.-179+105A>C | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 2/8 | chrY | 24618537 | ||||||
chrY:24629912
|
G | GT | 1 | a0001c0001t0001g0002 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.197-1263dupT | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chrY | 24629912 | |||||
chrY:24631011
|
T | C | 2 | a0001c0001t0001g0001a0001c0001t0001g0002 | 2 | NA18974.hp1 NA18985.hp1 |
intron_variant | MODIFIER | c.197-183T>C | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 5/8 | chrY | 24631011 | ||||||
chrY:24631482
|
C | T | 1 | a0001c0001t0001g0002 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.302+183C>T | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 6/8 | chrY | 24631482 | ||||||
chrY:24634876
|
C | CA | 1 | a0001c0001t0001g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.*106+2766dupA | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrY | 24634876 | |||||
chrY:24635083
|
T | TG | 1 | a0001c0001t0001g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.*106+2970dupG | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrY | 24635083 | |||||
chrY:24635348
|
TG | T | 1 | a0001c0001t0001g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.*106+3236delG | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrY | 24635348 | |||||
chrY:24635503
|
TG | T | 1 | a0001c0001t0001g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.*107-3162delG | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrY | 24635503 | |||||
chrY:24635530
|
AT | A | 1 | a0001c0001t0001g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.*107-3134delT | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrY | 24635530 | |||||
chrY:24636119
|
AG | A | 1 | a0001c0001t0001g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.*107-2546delG | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrY | 24636119 | |||||
chrY:24636466
|
G | GC | 1 | a0001c0001t0001g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.*107-2200dupC | BPY2B | ENSG00000183795.8 | transcript | ENST00000382392.5 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chrY | 24636466 |