geneid | 642778 |
---|---|
ensemblid | ENSG00000224712.13 |
hgncid | 41978 |
symbol | NPIPA3 |
name | nuclear pore complex interacting protein family member A3 |
refseq_nuc | NM_001395487.1 |
refseq_prot | NP_001382416.1 |
ensembl_nuc | ENST00000531598.7 |
ensembl_prot | ENSP00000437133.1 |
mane_status | MANE Select |
chr | chr16 |
start | 14703411 |
end | 14726342 |
strand | + |
ver | v1.2 |
region | chr16:14703411-14726342 |
region5000 | chr16:14698411-14731342 |
regionname0 | NPIPA3_chr16_14703411_14726342 |
regionname5000 | NPIPA3_chr16_14698411_14731342 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 369 | 21 | 11 | 0 | 6 | 2 | 2 | 4 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0002 | 0/0 | 369 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0003 | 0/0 | 388 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0004 | 0/0 | 369 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 1110 | 21 | 11 | 0 | 6 | 2 | 2 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
c0002 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
c0003 | 0/0 | 1167 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
c0004 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1110 | 21 | 11 | 0 | 6 | 2 | 2 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0002c0004 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0003c0003 | 0/0 | 1167 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0004c0002 | 0/0 | 1110 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1747 | 21 | 11 | 0 | 6 | 2 | 2 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0002c0004t0001 | 0/0 | 1747 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0003c0003t0001 | 0/0 | 1804 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
a0004c0002t0002 | 0/0 | 1747 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | copy fasta | chr16 | 14698411 | 14731342 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0002c0004t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0003c0003t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
a0004c0002t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0015 | EUR | GBR | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG00099 | hp2 | a0001 | c0001 | t0001 | g0004 | EUR | GBR | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG00438 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | CHS | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02280 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | ACB | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | GWD | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02922 | hp1 | a0003 | c0003 | t0001 | g0023 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG03139 | hp1 | a0001 | c0001 | t0001 | g0008 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | PJL | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
HG03490 | hp2 | a0001 | c0001 | t0001 | g0017 | SAS | PJL | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA18964 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | LWK | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA19043 | hp2 | a0002 | c0004 | t0001 | g0013 | AFR | LWK | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA19056 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA19056 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
NA20129 | hp2 | a0004 | c0002 | t0002 | g0016 | AFR | ASW | NPIPA3_chr16_14698411_14731342 | NPIPA3 | chr16 | 14698411 | 14731342 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:14719911
|
C | T | 1 | a0002 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.334C>T | p.Arg112Cys | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 5/10 | 922/1747 | 334/1110 | 112/369 | chr16 | 14719911 | ||
chr16:14720224
|
G | A | 1 | a0004 | 1 | NA20129.hp2 | missense_variant | MODERATE | c.484G>A | p.Ala162Thr | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/10 | 1072/1747 | 484/1110 | 162/369 | chr16 | 14720224 | ||
chr16:14725899
|
C | T | 1 | a0003 | 1 | HG02922.hp1 | missense_variant | MODERATE | c.716C>T | p.Ala239Val | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 10/10 | 1304/1747 | 716/1110 | 239/369 | chr16 | 14725899 | ||
chr16:14726026
|
C | CCTCAAGA others(50): Show |
1 | a0003 | 1 | HG02922.hp1 | conservative_inframe_insertion | MODERATE | c.855_856insTCCGAGCG others(49): Show |
p.Pro285_Pro286insSe others(55): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 10/10 | 1444/1747 | 856/1110 | 286/369 | INFO_REALIGN_3_PRIME | chr16 | 14726026 | |
chr16:14726211
|
T | C | 4 | a0001a0002a0003others(1): Show | 24 | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(21): Show |
missense_variant | MODERATE | c.1028T>C | p.Val343Ala | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 10/10 | 1616/1747 | 1028/1110 | 343/369 | chr16 | 14726211 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:14703631
|
C | G | 1 | a0004c0002t0002 | 1 | NA20129.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-368C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/10 | chr16 | 14703631 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr16:14705701
|
T | G | 1 | a0001c0001t0001g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.-118+1820T>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14705701 | ||||||
chr16:14706418
|
G | A | 1 | a0001c0001t0001g0002 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-117-2247G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14706418 | ||||||
chr16:14706750
|
A | G | 1 | a0001c0001t0001g0024 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-117-1915A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14706750 | ||||||
chr16:14708050
|
A | C | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-117-615A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708050 | ||||||
chr16:14708289
|
A | G | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-117-376A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708289 | ||||||
chr16:14708308
|
G | A | 1 | a0001c0001t0001g0003 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-117-357G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708308 | ||||||
chr16:14708512
|
A | G | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-117-153A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708512 | ||||||
chr16:14708625
|
C | A | 2 | a0001c0001t0001g0002a0001c0001t0001g0004 | 2 | HG00099.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.-117-40C>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 1/9 | chr16 | 14708625 | ||||||
chr16:14709918
|
A | G | 1 | a0001c0001t0001g0022 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.120+855A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14709918 | ||||||
chr16:14710033
|
A | AT | 3 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019 | 3 | HG02723.hp1 HG03139.hp2 HG03490.hp2 |
intron_variant | MODIFIER | c.120+986dupT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14710033 | |||||
chr16:14710033
|
A | T | 3 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0022 | 3 | NA18964.hp2 NA19043.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.120+970A>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710033 | ||||||
chr16:14710034
|
T | TA | 3 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006 | 3 | HG00099.hp2 HG00438.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.120+971_120+972ins others(1): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710034 | ||||||
chr16:14710036
|
T | A | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.120+973T>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710036 | ||||||
chr16:14710707
|
C | CTGTTTTG others(4): Show |
1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.120+1654_120+1655i others(13): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14710707 | |||||
chr16:14710975
|
C | A | 1 | a0001c0001t0001g0022 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.120+1912C>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14710975 | ||||||
chr16:14712044
|
C | A | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.120+2981C>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712044 | ||||||
chr16:14712315
|
C | CCCCCTTC others(4): Show |
1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.120+3268_120+3278d others(13): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14712315 | |||||
chr16:14712315
|
CCCCCTTC others(4): Show |
C | 1 | a0001c0001t0001g0007 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.120+3268_120+3278d others(13): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14712315 | |||||
chr16:14712333
|
C | T | 1 | a0001c0001t0001g0021 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.120+3270C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712333 | ||||||
chr16:14712432
|
C | T | 10 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0014others(7): Show | 10 | HG00099.hp1 HG00099.hp2 HG02280.hp2 others(7): Show |
intron_variant | MODIFIER | c.120+3369C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712432 | ||||||
chr16:14712634
|
C | G | 12 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(9): Show | 12 | HG00099.hp1 HG00099.hp2 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.121-3434C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712634 | ||||||
chr16:14712711
|
G | A | 1 | a0001c0001t0001g0008 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.121-3357G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14712711 | ||||||
chr16:14712989
|
CT | C | 3 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0019 | 3 | HG00099.hp2 HG02723.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.121-3071delT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | 14712989 | |||||
chr16:14713247
|
G | A | 3 | a0001c0001t0001g0003a0001c0001t0001g0009a0002c0004t0001g0013 | 3 | HG02723.hp2 HG02922.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.121-2821G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14713247 | ||||||
chr16:14713346
|
G | T | 1 | a0002c0004t0001g0013 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.121-2722G>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14713346 | ||||||
chr16:14713517
|
A | G | 1 | a0001c0001t0001g0009 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.121-2551A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14713517 | ||||||
chr16:14714028
|
C | G | 1 | a0001c0001t0001g0005 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.121-2040C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714028 | ||||||
chr16:14714365
|
G | A | 1 | a0001c0001t0001g0006 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.121-1703G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714365 | ||||||
chr16:14714371
|
T | G | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.121-1697T>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714371 | ||||||
chr16:14714617
|
G | A | 14 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(11): Show | 14 | HG00099.hp2 HG00438.hp1 HG02258.hp1 others(11): Show |
intron_variant | MODIFIER | c.121-1451G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714617 | ||||||
chr16:14714940
|
C | T | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.121-1128C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14714940 | ||||||
chr16:14715057
|
G | A | 1 | a0001c0001t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.121-1011G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715057 | ||||||
chr16:14715277
|
A | C | 1 | a0001c0001t0001g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.121-791A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715277 | ||||||
chr16:14715644
|
A | G | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.121-424A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715644 | ||||||
chr16:14715667
|
C | T | 1 | a0001c0001t0001g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.121-401C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 3/9 | chr16 | 14715667 | ||||||
chr16:14716624
|
A | G | 1 | a0001c0001t0001g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.249+428A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14716624 | ||||||
chr16:14716815
|
G | T | 1 | a0004c0002t0002g0016 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.249+619G>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14716815 | ||||||
chr16:14716873
|
G | A | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.249+677G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14716873 | ||||||
chr16:14717012
|
A | C | 1 | a0001c0001t0001g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.249+816A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14717012 | ||||||
chr16:14717988
|
T | G | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.249+1792T>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14717988 | ||||||
chr16:14718222
|
C | T | 1 | a0004c0002t0002g0016 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.250-1605C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14718222 | ||||||
chr16:14718843
|
A | G | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.250-984A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14718843 | ||||||
chr16:14718854
|
A | AT | 4 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0022others(1): Show | 4 | HG00099.hp1 HG02280.hp2 NA19043.hp1 others(1): Show |
intron_variant | MODIFIER | c.250-950dupT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14718854 | |||||
chr16:14718854
|
AT | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0018 | 3 | HG02723.hp2 HG03139.hp2 NA20129.hp1 |
intron_variant | MODIFIER | c.250-950delT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14718854 | |||||
chr16:14719285
|
T | C | 24 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(21): Show | 24 | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(21): Show |
intron_variant | MODIFIER | c.250-542T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | chr16 | 14719285 | ||||||
chr16:14719471
|
TTG | T | 7 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(4): Show | 7 | HG02258.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.250-305_250-304del others(2): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | |||||
chr16:14719471
|
TTGTG | T | 6 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(3): Show | 6 | HG00438.hp1 HG00438.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.250-307_250-304del others(4): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | |||||
chr16:14719471
|
TTGTGTG | T | 2 | a0001c0001t0001g0010a0001c0001t0001g0020 | 2 | HG02280.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.250-309_250-304del others(6): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | |||||
chr16:14719471
|
TTGTGTGT others(3): Show |
T | 2 | a0001c0001t0001g0005a0004c0002t0002g0016 | 2 | HG03490.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.250-313_250-304del others(10): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | |||||
chr16:14719471
|
TTGTGTGT others(5): Show |
T | 4 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0017others(1): Show | 4 | HG00099.hp2 HG02280.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.250-315_250-304del others(12): Show |
NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr16 | 14719471 | |||||
chr16:14719988
|
A | G | 1 | a0001c0001t0001g0007 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.349+62A>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 5/9 | chr16 | 14719988 | ||||||
chr16:14720482
|
T | C | 4 | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0018others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.494+248T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720482 | ||||||
chr16:14720483
|
T | C | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.494+249T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720483 | ||||||
chr16:14720725
|
G | A | 1 | a0001c0001t0001g0003 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.494+491G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720725 | ||||||
chr16:14720737
|
C | G | 1 | a0002c0004t0001g0013 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.494+503C>G | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14720737 | ||||||
chr16:14720946
|
A | AT | 4 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0017others(1): Show | 4 | HG00438.hp1 HG02723.hp1 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.494+739dupT | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr16 | 14720946 | |||||
chr16:14721616
|
G | A | 4 | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0020others(1): Show | 4 | HG00099.hp1 HG02280.hp2 NA18964.hp2 others(1): Show |
intron_variant | MODIFIER | c.494+1382G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14721616 | ||||||
chr16:14722298
|
G | A | 1 | a0001c0001t0001g0009 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.495-894G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14722298 | ||||||
chr16:14722301
|
T | C | 14 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(11): Show | 14 | HG00099.hp1 HG00099.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.495-891T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14722301 | ||||||
chr16:14722506
|
A | C | 1 | a0001c0001t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.495-686A>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 6/9 | chr16 | 14722506 | ||||||
chr16:14723361
|
C | T | 1 | a0001c0001t0001g0019 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.602+62C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14723361 | ||||||
chr16:14723941
|
T | C | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.603-377T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14723941 | ||||||
chr16:14723990
|
T | C | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.603-328T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14723990 | ||||||
chr16:14724055
|
T | C | 4 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(1): Show | 4 | HG00099.hp2 HG00438.hp1 HG02723.hp2 others(1): Show |
intron_variant | MODIFIER | c.603-263T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14724055 | ||||||
chr16:14724154
|
C | T | 1 | a0001c0001t0001g0010 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.603-164C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 7/9 | chr16 | 14724154 | ||||||
chr16:14724596
|
C | T | 1 | a0001c0001t0001g0014 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.699+73C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14724596 | ||||||
chr16:14724641
|
G | A | 1 | a0001c0001t0001g0001 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.699+118G>A | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14724641 | ||||||
chr16:14724786
|
T | C | 1 | a0003c0003t0001g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.699+263T>C | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14724786 | ||||||
chr16:14725698
|
C | T | 2 | a0001c0001t0001g0008a0001c0001t0001g0011 | 2 | HG02258.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.700-185C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14725698 | ||||||
chr16:14725706
|
C | T | 1 | a0001c0001t0001g0004 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.700-177C>T | NPIPA3 | ENSG00000224712.13 | transcript | ENST00000531598.7 | protein_coding | 9/9 | chr16 | 14725706 |