geneid | 80115 |
---|---|
ensemblid | ENSG00000128298.18 |
hgncid | 26203 |
symbol | BAIAP2L2 |
name | BAR/IMD domain containing adaptor protein 2 like 2 |
refseq_nuc | NM_025045.6 |
refseq_prot | NP_079321.3 |
ensembl_nuc | ENST00000381669.8 |
ensembl_prot | ENSP00000371085.3 |
mane_status | MANE Select |
chr | chr22 |
start | 38084900 |
end | 38110684 |
strand | - |
ver | v1.2 |
region | chr22:38084900-38110684 |
region5000 | chr22:38079900-38115684 |
regionname0 | BAIAP2L2_chr22_38084900_38110684 |
regionname5000 | BAIAP2L2_chr22_38079900_38115684 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 529 | 5 | 2 | 0 | 1 | 0 | 2 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0002 | 1/1 | 529 | 4 | 0 | 1 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0003 | 0/0 | 518 | 3 | 0 | 1 | 1 | 1 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0004 | 0/0 | 532 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0005 | 0/0 | 529 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0006 | 0/0 | 529 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0007 | 0/0 | 521 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0008 | 0/0 | 529 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 1590 | 5 | 2 | 0 | 1 | 0 | 2 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
c0002 | 1/1 | 1590 | 4 | 0 | 1 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
c0003 | 0/0 | 1557 | 3 | 0 | 1 | 1 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
c0004 | 0/0 | 1599 | 2 | 0 | 2 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
c0005 | 0/0 | 1566 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
c0006 | 0/0 | 1590 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
c0007 | 0/0 | 1590 | 1 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
c0008 | 0/0 | 1590 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 560 | 11 | 1 | 4 | 2 | 0 | 2 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
t0002 | 0/0 | 560 | 4 | 0 | 1 | 0 | 2 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
t0003 | 0/0 | 560 | 2 | 0 | 1 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
t0004 | 0/0 | 589 | 1 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0010 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1590 | 5 | 2 | 0 | 1 | 0 | 2 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0002c0002 | 1/1 | 1590 | 4 | 0 | 1 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0003c0003 | 0/0 | 1557 | 3 | 0 | 1 | 1 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0004c0004 | 0/0 | 1599 | 2 | 0 | 2 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0005c0007 | 0/0 | 1590 | 1 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0006c0008 | 0/0 | 1590 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0007c0005 | 0/0 | 1566 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0008c0006 | 0/0 | 1590 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 2149 | 4 | 1 | 0 | 1 | 0 | 2 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0001c0001t0004 | 0/0 | 2178 | 1 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0002c0002t0001 | 1/1 | 2149 | 3 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0002c0002t0003 | 0/0 | 2149 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0003c0003t0001 | 0/0 | 2116 | 1 | 0 | 0 | 1 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0003c0003t0002 | 0/0 | 2116 | 2 | 0 | 1 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0004c0004t0001 | 0/0 | 2158 | 2 | 0 | 2 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0005c0007t0002 | 0/0 | 2149 | 1 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0006c0008t0003 | 0/0 | 2149 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0007c0005t0002 | 0/0 | 2125 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
a0008c0006t0001 | 0/0 | 2149 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | copy fasta | chr22 | 38079900 | 38115684 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0001c0001t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0001c0001t0001g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0001c0001t0004g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0002c0002t0001g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0002c0002t0001g0010 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0002c0002t0001g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0002c0002t0003g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0003c0003t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0003c0003t0002g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0003c0003t0002g0018 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0004c0004t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0004c0004t0001g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0005c0007t0002g0015 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0006c0008t0003g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0007c0005t0002g0016 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
a0008c0006t0001g0005 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0003 | c0003 | t0002 | g0018 | EUR | GBR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG00099 | hp2 | a0005 | c0007 | t0002 | g0015 | EUR | GBR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG01071 | hp1 | a0003 | c0003 | t0002 | g0017 | AMR | PUR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG01071 | hp2 | a0008 | c0006 | t0001 | g0005 | AMR | PUR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG01081 | hp1 | a0004 | c0004 | t0001 | g0007 | AMR | PUR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG01081 | hp2 | a0006 | c0008 | t0003 | g0009 | AMR | PUR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG01168 | hp1 | a0002 | c0002 | t0001 | g0011 | AMR | PUR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG01168 | hp2 | a0004 | c0004 | t0001 | g0013 | AMR | PUR | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | ESN | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG02976 | hp2 | a0001 | c0001 | t0004 | g0014 | AFR | ESN | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG03669 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
HG03669 | hp2 | a0002 | c0002 | t0003 | g0008 | SAS | PJL | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
NA19077 | hp2 | a0003 | c0003 | t0001 | g0004 | EAS | JPT | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0006 | SAS | GIH | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
NA20905 | hp2 | a0007 | c0005 | t0002 | g0016 | SAS | GIH | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
homoSapiens_chm13v2 | hp1 | a0002 | c0002 | t0001 | g0010 | REF | REF | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
homoSapiens_grch38 | hp1 | a0002 | c0002 | t0001 | g0001 | REF | REF | BAIAP2L2_chr22_38079900_38115684 | BAIAP2L2 | chr22 | 38079900 | 38115684 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:38086345
|
GTGCGGGA others(35): Show |
G | 2 | a0003a0007 | 4 | HG00099.hp1 HG01071.hp1 NA19077.hp2 others(1): Show |
disruptive_inframe_deletion | MODERATE | c.1322_1363delTAGCAC others(36): Show |
p.Ile441_Arg454del | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 12/14 | 1522/2149 | 1322/1590 | 441/529 | chr22 | 38086345 | ||
chr22:38087148
|
T | TTCATGGG others(2): Show |
1 | a0003 | 3 | HG00099.hp1 HG01071.hp1 NA19077.hp2 |
conservative_inframe_insertion | MODERATE | c.1226_1234dupCACCCA others(3): Show |
p.Thr409_Met411dup | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1393/2149 | 1234/1590 | 412/529 | chr22 | 38087148 | ||
chr22:38087148
|
T | TTCATGGG others(11): Show |
1 | a0007 | 1 | NA20905.hp2 | conservative_inframe_insertion | MODERATE | c.1234_1235insCACCCA others(12): Show |
p.Met411_Asn412insTh others(16): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1393/2149 | 1234/1590 | 412/529 | chr22 | 38087148 | ||
chr22:38087164
|
G | A | 2 | a0005a0008 | 2 | HG00099.hp2 HG01071.hp2 |
missense_variant | MODERATE | c.1219C>T | p.Pro407Ser | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1378/2149 | 1219/1590 | 407/529 | chr22 | 38087164 | ||
chr22:38087167
|
A | ACATGGAG others(2): Show |
1 | a0004 | 2 | HG01081.hp1 HG01168.hp2 |
conservative_inframe_insertion | MODERATE | c.1207_1215dupACCTCC others(3): Show |
p.Met405_Ser406insTh others(7): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1374/2149 | 1215/1590 | 405/529 | chr22 | 38087167 | ||
chr22:38087178
|
A | C | 1 | a0006 | 1 | HG01081.hp2 | missense_variant | MODERATE | c.1205T>G | p.Met402Arg | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/14 | 1364/2149 | 1205/1590 | 402/529 | chr22 | 38087178 | ||
chr22:38088844
|
T | G | 1 | a0006 | 1 | HG01081.hp2 | missense_variant | MODERATE | c.1022A>C | p.His341Pro | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 10/14 | 1181/2149 | 1022/1590 | 341/529 | chr22 | 38088844 | ||
chr22:38089533
|
A | G | 4 | a0001a0003a0007others(1): Show | 10 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(7): Show |
missense_variant | MODERATE | c.754T>C | p.Cys252Arg | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/14 | 913/2149 | 754/1590 | 252/529 | chr22 | 38089533 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:38084929
|
T | TTTACAAA others(22): Show |
1 | a0001c0001t0004 | 1 | HG02976.hp2 | 3_prime_UTR_variant | MODIFIER | c.*342_*370dupCACATG others(23): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 14/14 | 370 | chr22 | 38084929 | |||||
chr22:38085280
|
G | A | 2 | a0002c0002t0003a0006c0008t0003 | 2 | HG01081.hp2 HG03669.hp2 |
3_prime_UTR_variant | MODIFIER | c.*20C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 14/14 | 20 | chr22 | 38085280 | |||||
chr22:38110681
|
T | C | 4 | a0001c0001t0004a0003c0003t0002a0005c0007t0002others(1): Show | 5 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(2): Show |
5_prime_UTR_variant | MODIFIER | c.-156A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/14 | 156 | chr22 | 38110681 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr22:38085509
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 8 | HG00099.hp1 HG01071.hp1 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.1515-134C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 13/13 | chr22 | 38085509 | ||||||
chr22:38086547
|
C | A | 1 | a0006c0008t0003g0009 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1260-98G>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/13 | chr22 | 38086547 | ||||||
chr22:38086639
|
CAG | C | 4 | a0001c0001t0004g0014a0002c0002t0001g0010a0002c0002t0003g0008others(1): Show | 4 | HG01081.hp2 HG02976.hp2 HG03669.hp2 others(1): Show |
intron_variant | MODIFIER | c.1260-192_1260-191d others(4): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/13 | chr22 | 38086639 | ||||||
chr22:38087009
|
C | A | 10 | a0001c0001t0001g0012a0001c0001t0004g0014a0002c0002t0001g0010others(7): Show | 10 | HG00099.hp1 HG01071.hp1 HG01081.hp2 others(7): Show |
intron_variant | MODIFIER | c.1259+115G>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/13 | chr22 | 38087009 | ||||||
chr22:38087028
|
A | C | 1 | a0006c0008t0003g0009 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1259+96T>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/13 | chr22 | 38087028 | ||||||
chr22:38087109
|
T | C | 1 | a0001c0001t0001g0006 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1259+15A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 11/13 | chr22 | 38087109 | ||||||
chr22:38087691
|
G | C | 1 | a0006c0008t0003g0009 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1119-427C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 10/13 | chr22 | 38087691 | ||||||
chr22:38087692
|
C | T | 1 | a0006c0008t0003g0009 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1119-428G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 10/13 | chr22 | 38087692 | ||||||
chr22:38087746
|
C | T | 1 | a0001c0001t0001g0012 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1119-482G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 10/13 | chr22 | 38087746 | ||||||
chr22:38087798
|
AC | A | 5 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(2): Show | 5 | HG01168.hp1 HG03669.hp1 NA19077.hp1 others(2): Show |
intron_variant | MODIFIER | c.1119-535delG | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 10/13 | chr22 | 38087798 | ||||||
chr22:38087890
|
A | AC | 10 | a0002c0002t0001g0010a0002c0002t0001g0011a0002c0002t0003g0008others(7): Show | 10 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(7): Show |
intron_variant | MODIFIER | c.1119-627dupG | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 10/13 | chr22 | 38087890 | ||||||
chr22:38089057
|
C | G | 8 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 8 | HG00099.hp1 HG01071.hp1 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.901+39G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 9/13 | chr22 | 38089057 | ||||||
chr22:38089275
|
G | C | 5 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0004g0014others(2): Show | 5 | HG00099.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.766-44C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089275 | ||||||
chr22:38089276
|
G | C | 5 | a0001c0001t0001g0002a0001c0001t0001g0003a0003c0003t0001g0004others(2): Show | 5 | HG01071.hp1 HG01071.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.766-45C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089276 | ||||||
chr22:38089276
|
GGGC | G | 5 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0004g0014others(2): Show | 5 | HG00099.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.766-48_766-46delGC others(1): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089276 | ||||||
chr22:38089277
|
G | C | 2 | a0002c0002t0001g0011a0002c0002t0003g0008 | 2 | HG01168.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.766-46C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089277 | ||||||
chr22:38089277
|
GGC | G | 5 | a0001c0001t0001g0002a0001c0001t0001g0003a0003c0003t0001g0004others(2): Show | 5 | HG01071.hp1 HG01071.hp2 HG03669.hp1 others(2): Show |
intron_variant | MODIFIER | c.766-48_766-47delGC | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089277 | ||||||
chr22:38089278
|
G | C | 1 | a0002c0002t0001g0010 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.766-47C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089278 | ||||||
chr22:38089278
|
GC | G | 2 | a0002c0002t0001g0011a0002c0002t0003g0008 | 2 | HG01168.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.766-48delG | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089278 | ||||||
chr22:38089279
|
C | CG | 2 | a0004c0004t0001g0007a0004c0004t0001g0013 | 2 | HG01081.hp1 HG01168.hp2 |
intron_variant | MODIFIER | c.766-49dupC | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089279 | ||||||
chr22:38089279
|
C | G | 2 | a0002c0002t0001g0010a0005c0007t0002g0015 | 2 | HG00099.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.766-48G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089279 | ||||||
chr22:38089284
|
C | G | 1 | a0006c0008t0003g0009 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.766-53G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 8/13 | chr22 | 38089284 | ||||||
chr22:38090118
|
T | TTTTTATT others(4): Show |
2 | a0001c0001t0001g0012a0003c0003t0001g0004 | 2 | HG02976.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.613-445_613-444ins others(11): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38090118 | ||||||
chr22:38090118
|
T | TTTTTTAT others(5): Show |
1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.613-445_613-444ins others(12): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38090118 | ||||||
chr22:38090118
|
T | TTTTTTTA others(6): Show |
5 | a0001c0001t0001g0003a0001c0001t0001g0006a0003c0003t0002g0017others(2): Show | 5 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(2): Show |
intron_variant | MODIFIER | c.613-445_613-444ins others(13): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38090118 | ||||||
chr22:38090118
|
T | TTTTTTTT others(8): Show |
1 | a0001c0001t0001g0002 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.613-445_613-444ins others(15): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38090118 | ||||||
chr22:38090517
|
C | CTCT | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.613-846_613-844dup others(3): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38090517 | ||||||
chr22:38090731
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.613-1057A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38090731 | ||||||
chr22:38090995
|
G | A | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.613-1321C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38090995 | ||||||
chr22:38091022
|
A | G | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.613-1348T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38091022 | ||||||
chr22:38091519
|
A | G | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(6): Show |
intron_variant | MODIFIER | c.613-1845T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38091519 | ||||||
chr22:38091708
|
G | A | 2 | a0002c0002t0001g0010a0002c0002t0001g0011 | 2 | HG01168.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.613-2034C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38091708 | ||||||
chr22:38092609
|
A | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.613-2935T>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38092609 | ||||||
chr22:38092781
|
A | AGGTGGTG | 14 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(11): Show | 14 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(11): Show |
intron_variant | MODIFIER | c.613-3108_613-3107i others(9): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38092781 | ||||||
chr22:38093551
|
G | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.612+3481C>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38093551 | ||||||
chr22:38094029
|
G | A | 2 | a0004c0004t0001g0007a0004c0004t0001g0013 | 2 | HG01081.hp1 HG01168.hp2 |
intron_variant | MODIFIER | c.612+3003C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38094029 | ||||||
chr22:38094049
|
C | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.612+2983G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38094049 | ||||||
chr22:38094633
|
T | A | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.612+2399A>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38094633 | ||||||
chr22:38094794
|
G | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.612+2238C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38094794 | ||||||
chr22:38094821
|
G | GGGCATGG others(2): Show |
3 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006 | 3 | HG03669.hp1 NA19077.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.612+2210_612+2211i others(11): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38094821 | ||||||
chr22:38094821
|
G | GGGCGTGG others(2): Show |
8 | a0001c0001t0001g0012a0003c0003t0001g0004a0003c0003t0002g0017others(5): Show | 8 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(5): Show |
intron_variant | MODIFIER | c.612+2202_612+2210d others(11): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38094821 | ||||||
chr22:38094887
|
C | T | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.612+2145G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38094887 | ||||||
chr22:38095363
|
A | G | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.612+1669T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38095363 | ||||||
chr22:38095758
|
G | T | 2 | a0002c0002t0001g0010a0002c0002t0001g0011 | 2 | HG01168.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.612+1274C>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38095758 | ||||||
chr22:38096742
|
A | G | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.612+290T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 7/13 | chr22 | 38096742 | ||||||
chr22:38097998
|
CGGTCTCG others(6): Show |
C | 10 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(7): Show | 10 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.465+52_465+64delTC others(11): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 6/13 | chr22 | 38097998 | ||||||
chr22:38099004
|
T | C | 15 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(12): Show | 15 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.277-522A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38099004 | ||||||
chr22:38099405
|
G | A | 8 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 8 | HG00099.hp1 HG01071.hp1 HG02976.hp1 others(5): Show |
intron_variant | MODIFIER | c.277-923C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38099405 | ||||||
chr22:38100158
|
G | A | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.277-1676C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38100158 | ||||||
chr22:38100247
|
C | A | 2 | a0002c0002t0003g0008a0006c0008t0003g0009 | 2 | HG01081.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.277-1765G>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38100247 | ||||||
chr22:38100526
|
CAATA | C | 2 | a0001c0001t0001g0002a0008c0006t0001g0005 | 2 | HG01071.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.277-2048_277-2045d others(6): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38100526 | ||||||
chr22:38100526
|
CAATAAAT others(1): Show |
C | 12 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0004g0014others(9): Show | 12 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.277-2052_277-2045d others(10): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38100526 | ||||||
chr22:38100526
|
CAATAAAT others(5): Show |
C | 1 | a0001c0001t0001g0012 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.277-2056_277-2045d others(14): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38100526 | ||||||
chr22:38100923
|
T | C | 1 | a0004c0004t0001g0013 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.277-2441A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38100923 | ||||||
chr22:38101371
|
T | TA | 3 | a0002c0002t0001g0011a0002c0002t0003g0008a0006c0008t0003g0009 | 3 | HG01081.hp2 HG01168.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.277-2890dupT | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38101371 | ||||||
chr22:38101371
|
TAAAAAAA others(5): Show |
T | 1 | a0004c0004t0001g0007 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.277-2901_277-2890d others(14): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38101371 | ||||||
chr22:38101371
|
TAAAAAAA others(6): Show |
T | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG00099.hp1 HG01071.hp1 HG01168.hp2 others(6): Show |
intron_variant | MODIFIER | c.277-2902_277-2890d others(15): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38101371 | ||||||
chr22:38101546
|
C | CA | 11 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0004g0014others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.277-3065dupT | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38101546 | ||||||
chr22:38101546
|
C | CAA | 4 | a0001c0001t0001g0002a0001c0001t0001g0012a0002c0002t0001g0010others(1): Show | 4 | HG01168.hp1 HG02976.hp1 HG03669.hp1 others(1): Show |
intron_variant | MODIFIER | c.277-3066_277-3065d others(4): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38101546 | ||||||
chr22:38101712
|
A | G | 13 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(10): Show | 13 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.277-3230T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38101712 | ||||||
chr22:38102876
|
A | G | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.277-4394T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38102876 | ||||||
chr22:38102978
|
G | A | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.277-4496C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38102978 | ||||||
chr22:38103516
|
A | G | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+4336T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38103516 | ||||||
chr22:38103579
|
A | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+4273T>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38103579 | ||||||
chr22:38103839
|
G | A | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.276+4013C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38103839 | ||||||
chr22:38103862
|
C | CA | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG00099.hp1 HG01071.hp1 HG01081.hp2 others(6): Show |
intron_variant | MODIFIER | c.276+3989dupT | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38103862 | ||||||
chr22:38103925
|
G | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+3927C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38103925 | ||||||
chr22:38104097
|
G | T | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.276+3755C>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104097 | ||||||
chr22:38104119
|
C | T | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(6): Show |
intron_variant | MODIFIER | c.276+3733G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104119 | ||||||
chr22:38104263
|
G | T | 1 | a0006c0008t0003g0009 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.276+3589C>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104263 | ||||||
chr22:38104375
|
C | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+3477G>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104375 | ||||||
chr22:38104473
|
G | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+3379C>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104473 | ||||||
chr22:38104588
|
C | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+3264G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104588 | ||||||
chr22:38104620
|
C | T | 2 | a0002c0002t0001g0010a0002c0002t0001g0011 | 2 | HG01168.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.276+3232G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104620 | ||||||
chr22:38104648
|
A | C | 1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.276+3204T>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104648 | ||||||
chr22:38104820
|
G | A | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+3032C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38104820 | ||||||
chr22:38105326
|
C | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+2526G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105326 | ||||||
chr22:38105343
|
T | TTG | 10 | a0001c0001t0001g0003a0001c0001t0001g0006a0002c0002t0003g0008others(7): Show | 10 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.276+2508_276+2509i others(4): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105343 | ||||||
chr22:38105400
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+2452A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105400 | ||||||
chr22:38105465
|
G | C | 1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.276+2387C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105465 | ||||||
chr22:38105538
|
T | G | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+2314A>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105538 | ||||||
chr22:38105622
|
C | T | 2 | a0004c0004t0001g0007a0004c0004t0001g0013 | 2 | HG01081.hp1 HG01168.hp2 |
intron_variant | MODIFIER | c.276+2230G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105622 | ||||||
chr22:38105656
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+2196A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105656 | ||||||
chr22:38105938
|
G | A | 1 | a0001c0001t0001g0006 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.276+1914C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38105938 | ||||||
chr22:38106165
|
G | A | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.276+1687C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106165 | ||||||
chr22:38106404
|
C | T | 3 | a0001c0001t0001g0002a0004c0004t0001g0007a0004c0004t0001g0013 | 3 | HG01081.hp1 HG01168.hp2 HG03669.hp1 |
intron_variant | MODIFIER | c.276+1448G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106404 | ||||||
chr22:38106527
|
T | A | 1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.276+1325A>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106527 | ||||||
chr22:38106528
|
T | TA | 8 | a0001c0001t0001g0003a0001c0001t0001g0006a0002c0002t0003g0008others(5): Show | 8 | HG00099.hp1 HG01071.hp1 HG01081.hp2 others(5): Show |
intron_variant | MODIFIER | c.276+1323dupT | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106528 | ||||||
chr22:38106632
|
T | C | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+1220A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106632 | ||||||
chr22:38106810
|
C | G | 1 | a0004c0004t0001g0007 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.276+1042G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106810 | ||||||
chr22:38106818
|
C | G | 4 | a0001c0001t0001g0012a0001c0001t0004g0014a0002c0002t0001g0010others(1): Show | 4 | HG01168.hp1 HG02976.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.276+1034G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106818 | ||||||
chr22:38106920
|
C | T | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(8): Show |
intron_variant | MODIFIER | c.276+932G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38106920 | ||||||
chr22:38107472
|
G | A | 3 | a0003c0003t0002g0017a0003c0003t0002g0018a0007c0005t0002g0016 | 3 | HG00099.hp1 HG01071.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.276+380C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38107472 | ||||||
chr22:38107725
|
C | T | 1 | a0002c0002t0003g0008 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.276+127G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38107725 | ||||||
chr22:38107840
|
C | T | 15 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(12): Show | 15 | HG00099.hp1 HG01071.hp1 HG01081.hp1 others(12): Show |
intron_variant | MODIFIER | c.276+12G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 4/13 | chr22 | 38107840 | ||||||
chr22:38107961
|
C | T | 3 | a0001c0001t0001g0012a0002c0002t0001g0011a0006c0008t0003g0009 | 3 | HG01081.hp2 HG01168.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.215-48G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 3/13 | chr22 | 38107961 | ||||||
chr22:38107965
|
C | T | 2 | a0002c0002t0001g0010a0002c0002t0001g0011 | 2 | HG01168.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.215-52G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 3/13 | chr22 | 38107965 | ||||||
chr22:38107974
|
C | T | 2 | a0001c0001t0001g0003a0003c0003t0001g0004 | 2 | NA19077.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.215-61G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 3/13 | chr22 | 38107974 | ||||||
chr22:38108112
|
C | CG | 2 | a0003c0003t0002g0017a0007c0005t0002g0016 | 2 | HG01071.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.214+142dupC | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 3/13 | chr22 | 38108112 | ||||||
chr22:38108120
|
C | G | 1 | a0002c0002t0001g0010 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.214+135G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 3/13 | chr22 | 38108120 | ||||||
chr22:38108365
|
T | C | 16 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(13): Show | 16 | HG00099.hp1 HG01071.hp1 HG01071.hp2 others(13): Show |
intron_variant | MODIFIER | c.128-24A>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 2/13 | chr22 | 38108365 | ||||||
chr22:38108763
|
T | G | 1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.127+370A>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 2/13 | chr22 | 38108763 | ||||||
chr22:38109259
|
A | G | 1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.52-51T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38109259 | ||||||
chr22:38109340
|
G | A | 8 | a0002c0002t0001g0010a0002c0002t0001g0011a0002c0002t0003g0008others(5): Show | 8 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.52-132C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38109340 | ||||||
chr22:38109349
|
A | G | 4 | a0001c0001t0004g0014a0003c0003t0002g0017a0003c0003t0002g0018others(1): Show | 4 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(1): Show |
intron_variant | MODIFIER | c.52-141T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38109349 | ||||||
chr22:38109739
|
C | T | 14 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0012others(11): Show | 14 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(11): Show |
intron_variant | MODIFIER | c.52-531G>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38109739 | ||||||
chr22:38109753
|
G | T | 1 | a0003c0003t0002g0017 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.52-545C>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38109753 | ||||||
chr22:38109962
|
A | G | 5 | a0001c0001t0001g0002a0001c0001t0001g0012a0004c0004t0001g0007others(2): Show | 5 | HG01081.hp1 HG01081.hp2 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.51+513T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38109962 | ||||||
chr22:38110049
|
C | CAGAGACA others(1650): Show |
1 | a0003c0003t0002g0017 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.51+425_51+426insCT others(1655): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110049 | ||||||
chr22:38110049
|
C | CAGAGACA others(1217): Show |
1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.51+425_51+426insCT others(1222): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110049 | ||||||
chr22:38110049
|
C | CAGAGACA others(1525): Show |
1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.51+425_51+426insCT others(1530): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110049 | ||||||
chr22:38110050
|
A | AGAGACAC others(1193): Show |
1 | a0001c0001t0001g0006 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1198): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1608): Show |
1 | a0002c0002t0001g0010 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1613): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1326): Show |
1 | a0003c0003t0001g0004 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1331): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1327): Show |
1 | a0001c0001t0001g0003 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1332): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1524): Show |
1 | a0002c0002t0001g0011 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1529): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1539): Show |
1 | a0008c0006t0001g0005 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1544): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(2663): Show |
1 | a0002c0002t0003g0008 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.51+424_51+425insCC others(2668): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1312): Show |
1 | a0001c0001t0001g0002 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1317): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1453): Show |
1 | a0006c0008t0003g0009 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1458): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1485): Show |
1 | a0001c0001t0001g0012 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1490): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110050
|
A | AGAGACAC others(1475): Show |
1 | a0004c0004t0001g0007 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.51+424_51+425insCC others(1480): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110050 | ||||||
chr22:38110053
|
G | GACACAGA others(1237): Show |
1 | a0005c0007t0002g0015 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.51+421_51+422insGT others(1242): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110053 | ||||||
chr22:38110053
|
G | GACACAGA others(971): Show |
1 | a0004c0004t0001g0013 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.51+421_51+422insGT others(976): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110053 | ||||||
chr22:38110056
|
A | G | 1 | a0005c0007t0002g0015 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.51+419T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110056 | ||||||
chr22:38110059
|
G | C | 1 | a0003c0003t0002g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.51+416C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110059 | ||||||
chr22:38110066
|
A | G | 2 | a0001c0001t0004g0014a0003c0003t0002g0017 | 2 | HG01071.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.51+409T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110066 | ||||||
chr22:38110067
|
C | CAGAGACA others(1876): Show |
1 | a0003c0003t0002g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.51+407_51+408insCT others(1881): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110067 | ||||||
chr22:38110067
|
C | CAGGG | 2 | a0001c0001t0001g0012a0002c0002t0001g0011 | 2 | HG01168.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.51+407_51+408insCC others(2): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110067 | ||||||
chr22:38110067
|
C | G | 2 | a0001c0001t0004g0014a0003c0003t0002g0017 | 2 | HG01071.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.51+408G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110067 | ||||||
chr22:38110068
|
A | AGG | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG01071.hp2 HG01081.hp1 HG01081.hp2 others(6): Show |
intron_variant | MODIFIER | c.51+406_51+407insCC | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110068 | ||||||
chr22:38110082
|
A | G | 1 | a0003c0003t0002g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.51+393T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110082 | ||||||
chr22:38110083
|
C | G | 11 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(8): Show | 11 | HG00099.hp1 HG00099.hp2 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.51+392G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110083 | ||||||
chr22:38110085
|
G | C | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG01071.hp2 HG01081.hp1 HG01081.hp2 others(6): Show |
intron_variant | MODIFIER | c.51+390C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110085 | ||||||
chr22:38110086
|
A | G | 2 | a0002c0002t0001g0011a0007c0005t0002g0016 | 2 | HG01168.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.51+389T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110086 | ||||||
chr22:38110088
|
A | G | 10 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(7): Show | 10 | HG00099.hp1 HG01071.hp2 HG01081.hp1 others(7): Show |
intron_variant | MODIFIER | c.51+387T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110088 | ||||||
chr22:38110089
|
G | C | 1 | a0005c0007t0002g0015 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.51+386C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110089 | ||||||
chr22:38110092
|
A | G | 1 | a0005c0007t0002g0015 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.51+383T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110092 | ||||||
chr22:38110093
|
G | C | 1 | a0001c0001t0001g0012 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.51+382C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110093 | ||||||
chr22:38110097
|
G | C | 1 | a0002c0002t0001g0011 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.51+378C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110097 | ||||||
chr22:38110099
|
C | G | 8 | a0001c0001t0001g0012a0001c0001t0004g0014a0002c0002t0001g0011others(5): Show | 8 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(5): Show |
intron_variant | MODIFIER | c.51+376G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110099 | ||||||
chr22:38110102
|
A | G | 2 | a0001c0001t0004g0014a0003c0003t0002g0017 | 2 | HG01071.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.51+373T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110102 | ||||||
chr22:38110108
|
G | A | 13 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(10): Show | 13 | HG01071.hp1 HG01071.hp2 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.51+367C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110108 | ||||||
chr22:38110112
|
A | G | 1 | a0002c0002t0001g0011 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.51+363T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110112 | ||||||
chr22:38110114
|
A | G | 10 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(7): Show | 10 | HG01071.hp2 HG01081.hp1 HG01081.hp2 others(7): Show |
intron_variant | MODIFIER | c.51+361T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110114 | ||||||
chr22:38110116
|
A | G | 1 | a0002c0002t0001g0011 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.51+359T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110116 | ||||||
chr22:38110117
|
G | C | 1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.51+358C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110117 | ||||||
chr22:38110118
|
A | G | 9 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 9 | HG01071.hp2 HG01081.hp1 HG01081.hp2 others(6): Show |
intron_variant | MODIFIER | c.51+357T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110118 | ||||||
chr22:38110120
|
G | A | 12 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(9): Show | 12 | HG00099.hp1 HG01071.hp2 HG01081.hp1 others(9): Show |
intron_variant | MODIFIER | c.51+355C>T | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110120 | ||||||
chr22:38110122
|
A | ATAGAGAG others(359): Show |
1 | a0001c0001t0004g0014 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.51+352_51+353insCT others(364): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110122 | ||||||
chr22:38110123
|
G | T | 1 | a0003c0003t0002g0017 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.51+352C>A | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110123 | ||||||
chr22:38110135
|
G | C | 1 | a0003c0003t0002g0018 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.51+340C>G | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110135 | ||||||
chr22:38110135
|
G | GAGAGAGA others(221): Show |
1 | a0003c0003t0002g0017 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.51+339_51+340insGT others(226): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110135 | ||||||
chr22:38110135
|
G | GAGAGAGG others(695): Show |
1 | a0005c0007t0002g0015 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.51+339_51+340insGT others(700): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110135 | ||||||
chr22:38110135
|
G | GGAGAGAG others(785): Show |
1 | a0007c0005t0002g0016 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.51+339_51+340insGT others(790): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110135 | ||||||
chr22:38110142
|
A | G | 1 | a0004c0004t0001g0013 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.51+333T>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110142 | ||||||
chr22:38110149
|
G | GAGAGAGA others(467): Show |
1 | a0004c0004t0001g0013 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.51+325_51+326insTC others(472): Show |
BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110149 | ||||||
chr22:38110157
|
C | G | 5 | a0001c0001t0004g0014a0003c0003t0002g0017a0003c0003t0002g0018others(2): Show | 5 | HG00099.hp1 HG00099.hp2 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.51+318G>C | BAIAP2L2 | ENSG00000128298.18 | transcript | ENST00000381669.8 | protein_coding | 1/13 | chr22 | 38110157 |