geneid | 84968 |
---|---|
ensemblid | ENSG00000235961.6 |
hgncid | 28248 |
symbol | PNMA6A |
name | PNMA family member 6A |
refseq_nuc | NM_032882.6 |
refseq_prot | NP_116271.3 |
ensembl_nuc | ENST00000421798.5 |
ensembl_prot | ENSP00000391488.3 |
mane_status | MANE Select |
chr | chrX |
start | 153072454 |
end | 153075019 |
strand | + |
ver | v1.2 |
region | chrX:153072454-153075019 |
region5000 | chrX:153067454-153080019 |
regionname0 | PNMA6A_chrX_153072454_153075019 |
regionname5000 | PNMA6A_chrX_153067454_153080019 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 399 | 32 | 8 | 5 | 7 | 4 | 6 | 6 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002 | 0/0 | 399 | 26 | 2 | 5 | 18 | 0 | 1 | 10 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0003 | 0/0 | 399 | 6 | 1 | 0 | 5 | 0 | 0 | 3 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0004 | 0/0 | 382 | 5 | 1 | 1 | 2 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0005 | 0/0 | 382 | 2 | 0 | 1 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0006 | 0/0 | 30 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0007 | 0/0 | 30 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0008 | 0/0 | 399 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0009 | 0/0 | 171 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0010 | 0/0 | 152 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0011 | 0/0 | 296 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0012 | 0/0 | 399 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0013 | 0/0 | 305 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0014 | 0/0 | 361 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0015 | 0/0 | 243 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0016 | 0/0 | 399 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0017 | 0/0 | 382 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0018 | 0/0 | 60 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0019 | 0/0 | 30 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0020 | 0/0 | 30 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/0 | 1200 | 26 | 7 | 4 | 7 | 3 | 4 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0002 | 0/0 | 1200 | 24 | 0 | 5 | 18 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0003 | 0/0 | 1200 | 6 | 1 | 0 | 5 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0004 | 0/0 | 1201 | 5 | 1 | 1 | 2 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0005 | 0/1 | 1200 | 5 | 1 | 0 | 0 | 1 | 2 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0006 | 0/0 | 1200 | 2 | 2 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0007 | 0/0 | 1201 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0008 | 0/0 | 1205 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0009 | 0/0 | 1200 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0010 | 0/0 | 1201 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0011 | 0/0 | 1200 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0012 | 0/0 | 1207 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0013 | 0/0 | 1201 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0014 | 0/0 | 1200 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0015 | 0/0 | 1200 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0016 | 0/0 | 1201 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0017 | 0/0 | 1202 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0018 | 0/0 | 1205 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0019 | 0/0 | 1200 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0020 | 0/0 | 1201 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0021 | 0/0 | 1209 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0022 | 0/0 | 1207 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0023 | 0/0 | 1202 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
c0024 | 0/0 | 1204 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/0 | 1039 | 26 | 9 | 3 | 5 | 3 | 5 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0002 | 0/0 | 1039 | 18 | 0 | 3 | 15 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0003 | 0/0 | 1039 | 9 | 0 | 1 | 7 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0004 | 0/0 | 1039 | 3 | 2 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0005 | 0/0 | 1039 | 3 | 0 | 2 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0006 | 0/0 | 1039 | 2 | 0 | 0 | 1 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0007 | 0/0 | 1040 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0008 | 0/0 | 1040 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0009 | 0/0 | 1041 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0010 | 0/0 | 1048 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0011 | 0/0 | 1042 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0012 | 0/0 | 1041 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0013 | 0/0 | 1040 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0014 | 0/0 | 1041 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0015 | 0/0 | 1042 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0016 | 0/0 | 1039 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0017 | 0/0 | 1040 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0018 | 0/0 | 1033 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0019 | 0/1 | 1039 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0020 | 0/0 | 1039 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0021 | 0/0 | 1035 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0022 | 0/0 | 1040 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0023 | 0/0 | 1040 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0024 | 0/0 | 1031 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0025 | 0/0 | 1040 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0026 | 0/0 | 1040 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0027 | 0/0 | 1040 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0028 | 0/0 | 1039 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0029 | 0/0 | 1039 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0030 | 0/0 | 1032 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
t0031 | 0/0 | 1040 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 1/1 | 71 | 10 | 11 | 35 | 4 | 9 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0002 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 1200 | 26 | 7 | 4 | 7 | 3 | 4 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0005 | 0/1 | 1200 | 5 | 1 | 0 | 0 | 1 | 2 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0009 | 0/0 | 1200 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002 | 0/0 | 1200 | 24 | 0 | 5 | 18 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0006 | 0/0 | 1200 | 2 | 2 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0003c0003 | 0/0 | 1200 | 6 | 1 | 0 | 5 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0004c0004 | 0/0 | 1201 | 5 | 1 | 1 | 2 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0005c0016 | 0/0 | 1201 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0005c0020 | 0/0 | 1201 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0006c0007 | 0/0 | 1201 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0007c0008 | 0/0 | 1205 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0008c0011 | 0/0 | 1200 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0009c0010 | 0/0 | 1201 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0010c0012 | 0/0 | 1207 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0011c0021 | 0/0 | 1209 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0012c0014 | 0/0 | 1200 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0013c0019 | 0/0 | 1200 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0014c0018 | 0/0 | 1205 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0015c0017 | 0/0 | 1202 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0016c0015 | 0/0 | 1200 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0017c0013 | 0/0 | 1201 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0018c0022 | 0/0 | 1207 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0019c0023 | 0/0 | 1202 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0020c0024 | 0/0 | 1204 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 2238 | 20 | 7 | 3 | 4 | 2 | 3 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0001t0003 | 0/0 | 2238 | 3 | 0 | 0 | 3 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0001t0005 | 0/0 | 2238 | 2 | 0 | 1 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0001t0029 | 0/0 | 2238 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0005t0001 | 0/0 | 2238 | 3 | 1 | 0 | 0 | 1 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0005t0014 | 0/0 | 2240 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0005t0019 | 0/1 | 2238 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0001c0009t0005 | 0/0 | 2238 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0002 | 0/0 | 2238 | 16 | 0 | 3 | 13 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0006 | 0/0 | 2238 | 2 | 0 | 0 | 1 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0009 | 0/0 | 2240 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0013 | 0/0 | 2239 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0021 | 0/0 | 2234 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0022 | 0/0 | 2239 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0026 | 0/0 | 2239 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0002t0028 | 0/0 | 2238 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0002c0006t0004 | 0/0 | 2238 | 2 | 2 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0003c0003t0003 | 0/0 | 2238 | 4 | 0 | 0 | 4 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0003c0003t0020 | 0/0 | 2238 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0003c0003t0024 | 0/0 | 2230 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0004c0004t0001 | 0/0 | 2239 | 2 | 1 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0004c0004t0003 | 0/0 | 2239 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0004c0004t0007 | 0/0 | 2240 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0004c0004t0023 | 0/0 | 2240 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0005c0016t0004 | 0/0 | 2239 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0005c0020t0002 | 0/0 | 2239 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0006c0007t0003 | 0/0 | 2239 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0007c0008t0012 | 0/0 | 2245 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0008c0011t0001 | 0/0 | 2238 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0009c0010t0025 | 0/0 | 2240 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0010c0012t0018 | 0/0 | 2239 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0011c0021t0030 | 0/0 | 2240 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0012c0014t0016 | 0/0 | 2238 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0013c0019t0002 | 0/0 | 2238 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0014c0018t0008 | 0/0 | 2244 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0015c0017t0015 | 0/0 | 2243 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0016c0015t0017 | 0/0 | 2239 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0017c0013t0011 | 0/0 | 2242 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0018c0022t0010 | 0/0 | 2254 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0019c0023t0027 | 0/0 | 2241 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
a0020c0024t0031 | 0/0 | 2243 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | copy fasta | chrX | 153067454 | 153080019 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 1/0 | 19 | 7 | 2 | 4 | 2 | 3 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0001t0003g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0001t0003g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0001t0005g0001 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0001t0029g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0005t0001g0001 | 0/0 | 3 | 1 | 0 | 0 | 1 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0005t0014g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0005t0019g0001 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0001c0009t0005g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0002g0001 | 0/0 | 16 | 0 | 3 | 13 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0006g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0006g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0009g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0013g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0021g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0022g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0026g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0002t0028g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0002c0006t0004g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0003c0003t0003g0001 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0003c0003t0020g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0003c0003t0024g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0004c0004t0001g0001 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0004c0004t0003g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0004c0004t0007g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0004c0004t0023g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0005c0016t0004g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0005c0020t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0006c0007t0003g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0007c0008t0012g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0008c0011t0001g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0009c0010t0025g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0010c0012t0018g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0011c0021t0030g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0012c0014t0016g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0013c0019t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0014c0018t0008g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0015c0017t0015g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0016c0015t0017g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0017c0013t0011g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0018c0022t0010g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0019c0023t0027g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
a0020c0024t0031g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | GBR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00099 | hp2 | a0001 | c0001 | t0005 | g0001 | EUR | GBR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00438 | hp1 | a0004 | c0004 | t0001 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00438 | hp2 | a0013 | c0019 | t0002 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00544 | hp2 | a0004 | c0004 | t0007 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00609 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00621 | hp1 | a0003 | c0003 | t0003 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00673 | hp1 | a0005 | c0020 | t0002 | g0001 | EAS | CHS | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00735 | hp1 | a0004 | c0004 | t0003 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG00735 | hp2 | a0005 | c0016 | t0004 | g0002 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01106 | hp1 | a0001 | c0009 | t0005 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01169 | hp1 | a0009 | c0010 | t0025 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01255 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01258 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | CLM | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01358 | hp1 | a0001 | c0001 | t0005 | g0001 | AMR | CLM | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01934 | hp1 | a0002 | c0002 | t0026 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01978 | hp1 | a0002 | c0002 | t0013 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG01978 | hp2 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02027 | hp1 | a0002 | c0002 | t0022 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02040 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02056 | hp1 | a0002 | c0002 | t0009 | g0005 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02071 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02080 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02080 | hp2 | a0002 | c0002 | t0002 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02129 | hp1 | a0017 | c0013 | t0011 | g0013 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02132 | hp1 | a0003 | c0003 | t0024 | g0001 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02135 | hp1 | a0020 | c0024 | t0031 | g0009 | EAS | KHV | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02300 | hp1 | a0002 | c0002 | t0002 | g0001 | AMR | PEL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02622 | hp2 | a0019 | c0023 | t0027 | g0014 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02647 | hp1 | a0004 | c0004 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02698 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02896 | hp1 | a0010 | c0012 | t0018 | g0001 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02896 | hp2 | a0012 | c0014 | t0016 | g0011 | AFR | GWD | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03098 | hp1 | a0002 | c0006 | t0004 | g0002 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03209 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03225 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03492 | hp1 | a0004 | c0004 | t0023 | g0001 | SAS | PJL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03710 | hp1 | a0006 | c0007 | t0003 | g0001 | SAS | PJL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03834 | hp1 | a0001 | c0005 | t0001 | g0001 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03834 | hp2 | a0001 | c0001 | t0029 | g0001 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG04115 | hp1 | a0001 | c0005 | t0014 | g0001 | SAS | STU | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG04184 | hp1 | a0002 | c0002 | t0006 | g0006 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG04184 | hp2 | a0008 | c0011 | t0001 | g0001 | SAS | BEB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18522 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18747 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | CHB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18943 | hp1 | a0003 | c0003 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18959 | hp1 | a0001 | c0001 | t0003 | g0004 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18962 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18966 | hp1 | a0002 | c0002 | t0021 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18970 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18974 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18977 | hp1 | a0015 | c0017 | t0015 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18980 | hp1 | a0002 | c0002 | t0006 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18980 | hp2 | a0003 | c0003 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18982 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18984 | hp1 | a0002 | c0002 | t0028 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18986 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18988 | hp1 | a0011 | c0021 | t0030 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA18990 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19000 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19007 | hp1 | a0003 | c0003 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19056 | hp1 | a0014 | c0018 | t0008 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19060 | hp2 | a0018 | c0022 | t0010 | g0008 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19067 | hp1 | a0001 | c0001 | t0003 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19076 | hp1 | a0007 | c0008 | t0012 | g0012 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA19091 | hp1 | a0002 | c0002 | t0002 | g0001 | EAS | JPT | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA20752 | hp1 | a0001 | c0005 | t0001 | g0001 | EUR | TSI | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | GIH | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02486 | hp1 | a0002 | c0006 | t0004 | g0002 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02559 | hp1 | a0001 | c0005 | t0001 | g0001 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG02559 | hp2 | a0016 | c0015 | t0017 | g0010 | AFR | ACB | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
HG03471 | hp1 | a0003 | c0003 | t0020 | g0003 | AFR | MSL | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
homoSapiens_chm13v2 | hp1 | a0001 | c0005 | t0019 | g0001 | REF | REF | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | PNMA6A_chrX_153067454_153080019 | PNMA6A | chrX | 153067454 | 153080019 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:153073064
|
T | TG | 1 | a0020 | 1 | HG02135.hp1 | frameshift_variant | HIGH | c.4dupG | p.Ala2fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 286/2238 | 5/1200 | 2/399 | INFO_REALIGN_3_PRIME | chrX | 153073064 | |
chrX:153073100
|
T | TG | 1 | a0006 | 1 | HG03710.hp1 | frameshift_variant | HIGH | c.43dupG | p.Val15fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 325/2238 | 44/1200 | 15/399 | INFO_REALIGN_3_PRIME | chrX | 153073100 | |
chrX:153073113
|
T | TC | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.52dupC | p.Arg18fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 334/2238 | 53/1200 | 18/399 | INFO_REALIGN_3_PRIME | chrX | 153073113 | |
chrX:153073117
|
A | AG | 1 | a0019 | 1 | HG02622.hp2 | frameshift_variant | HIGH | c.59dupG | p.Leu21fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 341/2238 | 60/1200 | 20/399 | INFO_REALIGN_3_PRIME | chrX | 153073117 | |
chrX:153073139
|
TC | T | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.80delC | p.Pro27fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 361/2238 | 80/1200 | 27/399 | INFO_REALIGN_3_PRIME | chrX | 153073139 | |
chrX:153073154
|
A | AT | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant&stop_gained | HIGH | c.93dupT | p.Asp32fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 375/2238 | 94/1200 | 32/399 | INFO_REALIGN_3_PRIME | chrX | 153073154 | |
chrX:153073166
|
T | TC | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.106dupC | p.Gln36fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 388/2238 | 107/1200 | 36/399 | INFO_REALIGN_3_PRIME | chrX | 153073166 | |
chrX:153073174
|
T | TC | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.115dupC | p.Leu39fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 397/2238 | 116/1200 | 39/399 | INFO_REALIGN_3_PRIME | chrX | 153073174 | |
chrX:153073226
|
C | T | 11 | a0002a0003a0005others(8): Show | 42 | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(39): Show |
missense_variant | MODERATE | c.164C>T | p.Ala55Val | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 445/2238 | 164/1200 | 55/399 | chrX | 153073226 | ||
chrX:153073253
|
C | CG | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.193dupG | p.Ala65fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 475/2238 | 194/1200 | 65/399 | INFO_REALIGN_3_PRIME | chrX | 153073253 | |
chrX:153073273
|
CG | C | 1 | a0017 | 1 | HG02129.hp1 | frameshift_variant | HIGH | c.214delG | p.Glu72fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 495/2238 | 214/1200 | 72/399 | INFO_REALIGN_3_PRIME | chrX | 153073273 | |
chrX:153073295
|
T | TC | 1 | a0017 | 1 | HG02129.hp1 | frameshift_variant | HIGH | c.237dupC | p.Arg80fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 519/2238 | 238/1200 | 80/399 | INFO_REALIGN_3_PRIME | chrX | 153073295 | |
chrX:153073317
|
TG | T | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.260delG | p.Gly87fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 541/2238 | 260/1200 | 87/399 | INFO_REALIGN_3_PRIME | chrX | 153073317 | |
chrX:153073374
|
T | TC | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.313dupC | p.Leu105fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 595/2238 | 314/1200 | 105/399 | INFO_REALIGN_3_PRIME | chrX | 153073374 | |
chrX:153073380
|
T | TCGCGTGT others(2): Show |
1 | a0010 | 1 | HG02896.hp1 | disruptive_inframe_insertion | MODERATE | c.320_328dupGCGTGTTC others(1): Show |
p.Arg107_Phe109dup | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 610/2238 | 329/1200 | 110/399 | INFO_REALIGN_3_PRIME | chrX | 153073380 | |
chrX:153073397
|
C | T | 1 | a0008 | 1 | HG04184.hp2 | missense_variant | MODERATE | c.335C>T | p.Pro112Leu | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 616/2238 | 335/1200 | 112/399 | chrX | 153073397 | ||
chrX:153073445
|
TG | T | 1 | a0010 | 1 | HG02896.hp1 | frameshift_variant | HIGH | c.387delG | p.Leu130fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 668/2238 | 387/1200 | 129/399 | INFO_REALIGN_3_PRIME | chrX | 153073445 | |
chrX:153073447
|
G | A | 1 | a0016 | 1 | HG02559.hp2 | missense_variant | MODERATE | c.385G>A | p.Gly129Arg | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 666/2238 | 385/1200 | 129/399 | chrX | 153073447 | ||
chrX:153073451
|
T | TG | 1 | a0020 | 1 | HG02135.hp1 | frameshift_variant | HIGH | c.390dupG | p.Arg131fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 672/2238 | 391/1200 | 131/399 | INFO_REALIGN_3_PRIME | chrX | 153073451 | |
chrX:153073513
|
A | AG | 1 | a0009 | 1 | HG01169.hp1 | frameshift_variant | HIGH | c.453dupG | p.Cys152fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 735/2238 | 454/1200 | 152/399 | INFO_REALIGN_3_PRIME | chrX | 153073513 | |
chrX:153073517
|
G | A | 9 | a0002a0005a0012others(6): Show | 35 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(32): Show |
missense_variant | MODERATE | c.455G>A | p.Cys152Tyr | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 736/2238 | 455/1200 | 152/399 | chrX | 153073517 | ||
chrX:153073519
|
C | CA | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.458dupA | p.Ser154fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 740/2238 | 459/1200 | 153/399 | INFO_REALIGN_3_PRIME | chrX | 153073519 | |
chrX:153073555
|
G | GC | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.497dupC | p.Gly167fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 779/2238 | 498/1200 | 166/399 | INFO_REALIGN_3_PRIME | chrX | 153073555 | |
chrX:153073619
|
A | AG | 1 | a0011 | 1 | NA18988.hp1 | frameshift_variant | HIGH | c.562dupG | p.Val188fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 844/2238 | 563/1200 | 188/399 | INFO_REALIGN_3_PRIME | chrX | 153073619 | |
chrX:153073668
|
T | TG | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.609dupG | p.Thr204fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 891/2238 | 610/1200 | 204/399 | INFO_REALIGN_3_PRIME | chrX | 153073668 | |
chrX:153073692
|
C | CA | 1 | a0015 | 1 | NA18977.hp1 | frameshift_variant | HIGH | c.630_631insA | p.Ala211fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 912/2238 | 631/1200 | 211/399 | chrX | 153073692 | ||
chrX:153073755
|
G | GT | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.696dupT | p.Gly233fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 978/2238 | 697/1200 | 233/399 | INFO_REALIGN_3_PRIME | chrX | 153073755 | |
chrX:153073771
|
TC | T | 1 | a0010 | 1 | HG02896.hp1 | frameshift_variant | HIGH | c.712delC | p.Gln238fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 993/2238 | 712/1200 | 238/399 | INFO_REALIGN_3_PRIME | chrX | 153073771 | |
chrX:153073786
|
C | CG | 1 | a0015 | 1 | NA18977.hp1 | frameshift_variant | HIGH | c.727dupG | p.Val243fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1009/2238 | 728/1200 | 243/399 | INFO_REALIGN_3_PRIME | chrX | 153073786 | |
chrX:153073818
|
A | AG | 1 | a0010 | 1 | HG02896.hp1 | frameshift_variant | HIGH | c.758dupG | p.Glu254fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1040/2238 | 759/1200 | 253/399 | INFO_REALIGN_3_PRIME | chrX | 153073818 | |
chrX:153073825
|
C | CG | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.764dupG | p.Leu256fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1046/2238 | 765/1200 | 255/399 | INFO_REALIGN_3_PRIME | chrX | 153073825 | |
chrX:153073832
|
C | CAGCTTT | 1 | a0014 | 1 | NA19056.hp1 | disruptive_inframe_insertion | MODERATE | c.771_776dupAGCTTT | p.Ala258_Phe259insLe others(4): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1058/2238 | 777/1200 | 259/399 | INFO_REALIGN_3_PRIME | chrX | 153073832 | |
chrX:153073883
|
A | AG | 1 | a0020 | 1 | HG02135.hp1 | frameshift_variant | HIGH | c.823dupG | p.Ala275fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1105/2238 | 824/1200 | 275/399 | INFO_REALIGN_3_PRIME | chrX | 153073883 | |
chrX:153073910
|
G | A | 1 | a0012 | 1 | HG02896.hp2 | missense_variant | MODERATE | c.848G>A | p.Arg283His | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1129/2238 | 848/1200 | 283/399 | chrX | 153073910 | ||
chrX:153073910
|
G | GT | 1 | a0010 | 1 | HG02896.hp1 | frameshift_variant | HIGH | c.848_849insT | p.Val284fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1130/2238 | 849/1200 | 283/399 | chrX | 153073910 | ||
chrX:153073936
|
A | AG | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.877dupG | p.Ala293fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1159/2238 | 878/1200 | 293/399 | INFO_REALIGN_3_PRIME | chrX | 153073936 | |
chrX:153073945
|
CT | C | 1 | a0010 | 1 | HG02896.hp1 | frameshift_variant | HIGH | c.885delT | p.Thr296fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1166/2238 | 885/1200 | 295/399 | INFO_REALIGN_3_PRIME | chrX | 153073945 | |
chrX:153073972
|
AG | A | 1 | a0013 | 1 | HG00438.hp2 | frameshift_variant | HIGH | c.912delG | p.Lys305fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1193/2238 | 912/1200 | 304/399 | INFO_REALIGN_3_PRIME | chrX | 153073972 | |
chrX:153073984
|
A | ATGGCC | 1 | a0011 | 1 | NA18988.hp1 | frameshift_variant | HIGH | c.923_927dupTGGCC | p.Gly310fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1209/2238 | 928/1200 | 310/399 | INFO_REALIGN_3_PRIME | chrX | 153073984 | |
chrX:153073995
|
G | GT | 1 | a0018 | 1 | NA19060.hp2 | frameshift_variant | HIGH | c.934dupT | p.Ser312fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1216/2238 | 935/1200 | 312/399 | INFO_REALIGN_3_PRIME | chrX | 153073995 | |
chrX:153074018
|
T | TG | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.960dupG | p.Leu321fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1242/2238 | 961/1200 | 321/399 | INFO_REALIGN_3_PRIME | chrX | 153074018 | |
chrX:153074050
|
GC | G | 1 | a0007 | 1 | NA19076.hp1 | frameshift_variant | HIGH | c.990delC | p.Ser331fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1271/2238 | 990/1200 | 330/399 | INFO_REALIGN_3_PRIME | chrX | 153074050 | |
chrX:153074088
|
A | AG | 2 | a0010a0020 | 2 | HG02135.hp1 HG02896.hp1 |
frameshift_variant | HIGH | c.1030dupG | p.Ala344fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1312/2238 | 1031/1200 | 344/399 | INFO_REALIGN_3_PRIME | chrX | 153074088 | |
chrX:153074094
|
C | CG | 1 | a0015 | 1 | NA18977.hp1 | frameshift_variant | HIGH | c.1034dupG | p.Ala346fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1316/2238 | 1035/1200 | 345/399 | INFO_REALIGN_3_PRIME | chrX | 153074094 | |
chrX:153074136
|
TA | T | 1 | a0014 | 1 | NA19056.hp1 | frameshift_variant | HIGH | c.1077delA | p.Val360fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1358/2238 | 1077/1200 | 359/399 | INFO_REALIGN_3_PRIME | chrX | 153074136 | |
chrX:153074147
|
C | CG | 6 | a0004a0005a0013others(3): Show | 11 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(8): Show |
frameshift_variant | HIGH | c.1087dupG | p.Val363fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1369/2238 | 1088/1200 | 363/399 | INFO_REALIGN_3_PRIME | chrX | 153074147 | |
chrX:153074147
|
C | CT | 1 | a0011 | 1 | NA18988.hp1 | frameshift_variant | HIGH | c.1085_1086insT | p.Val363fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1367/2238 | 1086/1200 | 362/399 | chrX | 153074147 | ||
chrX:153074150
|
TC | T | 1 | a0015 | 1 | NA18977.hp1 | frameshift_variant | HIGH | c.1091delC | p.Pro364fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1372/2238 | 1091/1200 | 364/399 | INFO_REALIGN_3_PRIME | chrX | 153074150 | |
chrX:153074186
|
T | G | 9 | a0002a0005a0012others(6): Show | 35 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(32): Show |
missense_variant | MODERATE | c.1124T>G | p.Leu375Arg | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1405/2238 | 1124/1200 | 375/399 | chrX | 153074186 | ||
chrX:153074186
|
TC | T | 1 | a0010 | 1 | HG02896.hp1 | frameshift_variant | HIGH | c.1126delC | p.Gln376fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1407/2238 | 1126/1200 | 376/399 | INFO_REALIGN_3_PRIME | chrX | 153074186 | |
chrX:153074216
|
T | TC | 1 | a0011 | 1 | NA18988.hp1 | frameshift_variant | HIGH | c.1156dupC | p.Leu386fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1438/2238 | 1157/1200 | 386/399 | INFO_REALIGN_3_PRIME | chrX | 153074216 | |
chrX:153074225
|
AG | A | 1 | a0010 | 1 | HG02896.hp1 | frameshift_variant | HIGH | c.1167delG | p.Leu390fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1448/2238 | 1167/1200 | 389/399 | INFO_REALIGN_3_PRIME | chrX | 153074225 | |
chrX:153074229
|
G | GC | 1 | a0011 | 1 | NA18988.hp1 | frameshift_variant | HIGH | c.1168dupC | p.Leu390fs | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 1450/2238 | 1169/1200 | 390/399 | INFO_REALIGN_3_PRIME | chrX | 153074229 | |
chrX:153075016
|
TC | T | 2 | a0010a0011 | 2 | HG02896.hp1 NA18988.hp1 |
splice_region_variant | LOW | c.*756delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | 153075016 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:153073209
|
T | C | 1 | a0001c0009 | 1 | HG01106.hp1 | synonymous_variant | LOW | c.147T>C | p.Phe49Phe | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 428/2238 | 147/1200 | 49/399 | chrX | 153073209 | ||
chrX:153073287
|
T | C | 1 | a0012c0014 | 1 | HG02896.hp2 | synonymous_variant | LOW | c.225T>C | p.Tyr75Tyr | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 506/2238 | 225/1200 | 75/399 | chrX | 153073287 | ||
chrX:153073443
|
T | C | 4 | a0002c0006a0005c0016a0012c0014others(1): Show | 5 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
synonymous_variant | LOW | c.381T>C | p.Gly127Gly | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 662/2238 | 381/1200 | 127/399 | chrX | 153073443 | ||
chrX:153073470
|
G | C | 4 | a0002c0006a0005c0016a0012c0014others(1): Show | 5 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
synonymous_variant | LOW | c.408G>C | p.Leu136Leu | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 689/2238 | 408/1200 | 136/399 | chrX | 153073470 | ||
chrX:153073530
|
C | T | 3 | a0001c0005a0009c0010a0020c0024 | 7 | HG01169.hp1 HG02135.hp1 HG02559.hp1 others(4): Show |
synonymous_variant | LOW | c.468C>T | p.Gly156Gly | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 749/2238 | 468/1200 | 156/399 | chrX | 153073530 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:153072497
|
G | GC | 1 | a0004c0004t0007 | 1 | HG00544.hp2 | 5_prime_UTR_variant | MODIFIER | c.-235dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 562 | INFO_REALIGN_3_PRIME | chrX | 153072497 | ||||
chrX:153072504
|
C | CG | 1 | a0020c0024t0031 | 1 | HG02135.hp1 | 5_prime_UTR_variant | MODIFIER | c.-227dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 554 | INFO_REALIGN_3_PRIME | chrX | 153072504 | ||||
chrX:153072524
|
A | AC | 3 | a0002c0002t0009a0014c0018t0008a0018c0022t0010 | 3 | HG02056.hp1 NA19056.hp1 NA19060.hp2 |
5_prime_UTR_variant | MODIFIER | c.-207dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 534 | INFO_REALIGN_3_PRIME | chrX | 153072524 | ||||
chrX:153072562
|
G | GC | 1 | a0017c0013t0011 | 1 | HG02129.hp1 | 5_prime_UTR_variant | MODIFIER | c.-170dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 497 | INFO_REALIGN_3_PRIME | chrX | 153072562 | ||||
chrX:153072573
|
A | AC | 1 | a0017c0013t0011 | 1 | HG02129.hp1 | 5_prime_UTR_variant | MODIFIER | c.-159dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 486 | INFO_REALIGN_3_PRIME | chrX | 153072573 | ||||
chrX:153072576
|
CG | C | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 5_prime_UTR_variant | MODIFIER | c.-157delG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 485 | INFO_REALIGN_3_PRIME | chrX | 153072576 | ||||
chrX:153072576
|
CGGACCA | C | 1 | a0011c0021t0030 | 1 | NA18988.hp1 | 5_prime_UTR_variant | MODIFIER | c.-155_-150delCCAGGA | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/2 | 478 | INFO_REALIGN_3_PRIME | chrX | 153072576 | ||||
chrX:153072944
|
A | AC | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 5_prime_UTR_variant | MODIFIER | c.-117dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 116 | INFO_REALIGN_3_PRIME | chrX | 153072944 | ||||
chrX:153072976
|
A | AC | 2 | a0001c0005t0014a0002c0002t0013 | 2 | HG01978.hp1 HG04115.hp1 |
5_prime_UTR_variant | MODIFIER | c.-82dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 81 | INFO_REALIGN_3_PRIME | chrX | 153072976 | ||||
chrX:153072985
|
G | GC | 1 | a0015c0017t0015 | 1 | NA18977.hp1 | 5_prime_UTR_variant | MODIFIER | c.-74dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 73 | INFO_REALIGN_3_PRIME | chrX | 153072985 | ||||
chrX:153072991
|
T | A | 6 | a0002c0002t0006a0002c0006t0004a0005c0016t0004others(3): Show | 8 | HG00735.hp2 HG02129.hp1 HG02486.hp1 others(5): Show |
5_prime_UTR_variant | MODIFIER | c.-72T>A | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 72 | chrX | 153072991 | |||||
chrX:153073012
|
G | GA | 1 | a0017c0013t0011 | 1 | HG02129.hp1 | 5_prime_UTR_variant | MODIFIER | c.-49dupA | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 48 | INFO_REALIGN_3_PRIME | chrX | 153073012 | ||||
chrX:153073020
|
T | TC | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 5_prime_UTR_variant | MODIFIER | c.-41dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 40 | INFO_REALIGN_3_PRIME | chrX | 153073020 | ||||
chrX:153073024
|
G | GC | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 5_prime_UTR_variant | MODIFIER | c.-35dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 34 | INFO_REALIGN_3_PRIME | chrX | 153073024 | ||||
chrX:153074263
|
GT | G | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3delT | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 3 | INFO_REALIGN_3_PRIME | chrX | 153074263 | ||||
chrX:153074271
|
TG | T | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*13delG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 13 | INFO_REALIGN_3_PRIME | chrX | 153074271 | ||||
chrX:153074281
|
G | GC | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*22dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 23 | INFO_REALIGN_3_PRIME | chrX | 153074281 | ||||
chrX:153074289
|
C | CG | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*28dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 29 | INFO_REALIGN_3_PRIME | chrX | 153074289 | ||||
chrX:153074289
|
C | T | 1 | a0001c0001t0029 | 1 | HG03834.hp2 | 3_prime_UTR_variant | MODIFIER | c.*27C>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 27 | chrX | 153074289 | |||||
chrX:153074320
|
GC | G | 1 | a0015c0017t0015 | 1 | NA18977.hp1 | 3_prime_UTR_variant | MODIFIER | c.*62delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 62 | INFO_REALIGN_3_PRIME | chrX | 153074320 | ||||
chrX:153074346
|
A | AG | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*86dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 87 | INFO_REALIGN_3_PRIME | chrX | 153074346 | ||||
chrX:153074356
|
GC | G | 1 | a0011c0021t0030 | 1 | NA18988.hp1 | 3_prime_UTR_variant | MODIFIER | c.*97delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 97 | INFO_REALIGN_3_PRIME | chrX | 153074356 | ||||
chrX:153074370
|
C | T | 1 | a0002c0002t0028 | 1 | NA18984.hp1 | 3_prime_UTR_variant | MODIFIER | c.*108C>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 108 | chrX | 153074370 | |||||
chrX:153074376
|
C | CG | 2 | a0015c0017t0015a0018c0022t0010 | 2 | NA18977.hp1 NA19060.hp2 |
3_prime_UTR_variant | MODIFIER | c.*118dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 119 | INFO_REALIGN_3_PRIME | chrX | 153074376 | ||||
chrX:153074377
|
G | C | 1 | a0001c0005t0019 | 1 | homoSapiens_chm13v2.hp1 | 3_prime_UTR_variant | MODIFIER | c.*115G>C | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 115 | chrX | 153074377 | |||||
chrX:153074388
|
C | CT | 1 | a0015c0017t0015 | 1 | NA18977.hp1 | 3_prime_UTR_variant | MODIFIER | c.*126_*127insT | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 127 | chrX | 153074388 | |||||
chrX:153074412
|
C | CG | 2 | a0007c0008t0012a0019c0023t0027 | 2 | HG02622.hp2 NA19076.hp1 |
3_prime_UTR_variant | MODIFIER | c.*154dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 155 | INFO_REALIGN_3_PRIME | chrX | 153074412 | ||||
chrX:153074416
|
G | GC | 1 | a0002c0002t0009 | 1 | HG02056.hp1 | 3_prime_UTR_variant | MODIFIER | c.*160dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 161 | INFO_REALIGN_3_PRIME | chrX | 153074416 | ||||
chrX:153074439
|
C | G | 1 | a0002c0002t0026 | 1 | HG01934.hp1 | 3_prime_UTR_variant | MODIFIER | c.*177C>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 177 | chrX | 153074439 | |||||
chrX:153074457
|
TC | T | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*198delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 198 | INFO_REALIGN_3_PRIME | chrX | 153074457 | ||||
chrX:153074465
|
A | AC | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*206dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 207 | INFO_REALIGN_3_PRIME | chrX | 153074465 | ||||
chrX:153074465
|
AC | A | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 3_prime_UTR_variant | MODIFIER | c.*206delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 206 | INFO_REALIGN_3_PRIME | chrX | 153074465 | ||||
chrX:153074492
|
TG | T | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*234delG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 234 | INFO_REALIGN_3_PRIME | chrX | 153074492 | ||||
chrX:153074497
|
T | TGG | 1 | a0015c0017t0015 | 1 | NA18977.hp1 | 3_prime_UTR_variant | MODIFIER | c.*240_*241dupGG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 242 | INFO_REALIGN_3_PRIME | chrX | 153074497 | ||||
chrX:153074517
|
G | T | 3 | a0002c0006t0004a0005c0016t0004a0016c0015t0017 | 4 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*255G>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 255 | chrX | 153074517 | |||||
chrX:153074522
|
A | AG | 1 | a0009c0010t0025 | 1 | HG01169.hp1 | 3_prime_UTR_variant | MODIFIER | c.*264dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 265 | INFO_REALIGN_3_PRIME | chrX | 153074522 | ||||
chrX:153074571
|
C | CCT | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*309_*310insCT | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 310 | chrX | 153074571 | |||||
chrX:153074572
|
T | C | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*310T>C | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 310 | chrX | 153074572 | |||||
chrX:153074576
|
G | C | 1 | a0003c0003t0020 | 1 | HG03471.hp1 | 3_prime_UTR_variant | MODIFIER | c.*314G>C | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 314 | chrX | 153074576 | |||||
chrX:153074580
|
C | G | 7 | a0001c0001t0003a0003c0003t0003a0003c0003t0020others(4): Show | 12 | HG00621.hp1 HG00735.hp1 HG02132.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*318C>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 318 | chrX | 153074580 | |||||
chrX:153074594
|
C | CT | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 3_prime_UTR_variant | MODIFIER | c.*333dupT | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 334 | INFO_REALIGN_3_PRIME | chrX | 153074594 | ||||
chrX:153074603
|
C | T | 4 | a0002c0006t0004a0005c0016t0004a0012c0014t0016others(1): Show | 5 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*341C>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 341 | chrX | 153074603 | |||||
chrX:153074620
|
A | AG | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*362dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 363 | INFO_REALIGN_3_PRIME | chrX | 153074620 | ||||
chrX:153074620
|
AG | A | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*362delG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 362 | INFO_REALIGN_3_PRIME | chrX | 153074620 | ||||
chrX:153074630
|
T | TG | 1 | a0011c0021t0030 | 1 | NA18988.hp1 | 3_prime_UTR_variant | MODIFIER | c.*369dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 370 | INFO_REALIGN_3_PRIME | chrX | 153074630 | ||||
chrX:153074637
|
GTGGAGCC | G | 1 | a0002c0002t0021 | 1 | NA18966.hp1 | 3_prime_UTR_variant | MODIFIER | c.*376_*382delTGGAGC others(1): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 376 | chrX | 153074637 | |||||
chrX:153074671
|
TC | T | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*413delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 413 | INFO_REALIGN_3_PRIME | chrX | 153074671 | ||||
chrX:153074687
|
G | T | 2 | a0001c0001t0005a0001c0009t0005 | 3 | HG00099.hp2 HG01106.hp1 HG01358.hp1 |
3_prime_UTR_variant | MODIFIER | c.*425G>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 425 | chrX | 153074687 | |||||
chrX:153074693
|
TC | T | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*434delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 434 | INFO_REALIGN_3_PRIME | chrX | 153074693 | ||||
chrX:153074702
|
A | AT | 1 | a0002c0002t0021 | 1 | NA18966.hp1 | 3_prime_UTR_variant | MODIFIER | c.*441dupT | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 442 | INFO_REALIGN_3_PRIME | chrX | 153074702 | ||||
chrX:153074740
|
TC | T | 1 | a0015c0017t0015 | 1 | NA18977.hp1 | 3_prime_UTR_variant | MODIFIER | c.*481delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 481 | INFO_REALIGN_3_PRIME | chrX | 153074740 | ||||
chrX:153074743
|
CGTGACAG | C | 1 | a0003c0003t0024 | 1 | HG02132.hp1 | 3_prime_UTR_variant | MODIFIER | c.*482_*488delGTGACA others(1): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 482 | chrX | 153074743 | |||||
chrX:153074788
|
CG | C | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 3_prime_UTR_variant | MODIFIER | c.*529delG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 529 | INFO_REALIGN_3_PRIME | chrX | 153074788 | ||||
chrX:153074798
|
T | TG | 1 | a0007c0008t0012 | 1 | NA19076.hp1 | 3_prime_UTR_variant | MODIFIER | c.*540dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 541 | INFO_REALIGN_3_PRIME | chrX | 153074798 | ||||
chrX:153074806
|
T | TC | 1 | a0011c0021t0030 | 1 | NA18988.hp1 | 3_prime_UTR_variant | MODIFIER | c.*545dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 546 | INFO_REALIGN_3_PRIME | chrX | 153074806 | ||||
chrX:153074812
|
T | G | 18 | a0002c0002t0002a0002c0002t0006a0002c0002t0009others(15): Show | 35 | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*550T>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 550 | chrX | 153074812 | |||||
chrX:153074820
|
G | GA | 1 | a0002c0002t0021 | 1 | NA18966.hp1 | 3_prime_UTR_variant | MODIFIER | c.*558_*559insA | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 559 | chrX | 153074820 | |||||
chrX:153074825
|
CT | C | 1 | a0015c0017t0015 | 1 | NA18977.hp1 | 3_prime_UTR_variant | MODIFIER | c.*566delT | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 566 | INFO_REALIGN_3_PRIME | chrX | 153074825 | ||||
chrX:153074835
|
T | TG | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*575dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 576 | INFO_REALIGN_3_PRIME | chrX | 153074835 | ||||
chrX:153074841
|
T | TC | 2 | a0015c0017t0015a0018c0022t0010 | 2 | NA18977.hp1 NA19060.hp2 |
3_prime_UTR_variant | MODIFIER | c.*581dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 582 | INFO_REALIGN_3_PRIME | chrX | 153074841 | ||||
chrX:153074871
|
TC | T | 1 | a0011c0021t0030 | 1 | NA18988.hp1 | 3_prime_UTR_variant | MODIFIER | c.*611delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 611 | INFO_REALIGN_3_PRIME | chrX | 153074871 | ||||
chrX:153074880
|
T | G | 1 | a0015c0017t0015 | 1 | NA18977.hp1 | 3_prime_UTR_variant | MODIFIER | c.*618T>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 618 | chrX | 153074880 | |||||
chrX:153074880
|
T | TG | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*622dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 623 | INFO_REALIGN_3_PRIME | chrX | 153074880 | ||||
chrX:153074892
|
TC | T | 2 | a0010c0012t0018a0018c0022t0010 | 2 | HG02896.hp1 NA19060.hp2 |
3_prime_UTR_variant | MODIFIER | c.*635delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 635 | INFO_REALIGN_3_PRIME | chrX | 153074892 | ||||
chrX:153074904
|
A | AG | 6 | a0001c0005t0014a0002c0002t0021a0002c0002t0022others(3): Show | 6 | HG01934.hp1 HG02027.hp1 HG02559.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*648dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 649 | INFO_REALIGN_3_PRIME | chrX | 153074904 | ||||
chrX:153074904
|
AG | A | 1 | a0010c0012t0018 | 1 | HG02896.hp1 | 3_prime_UTR_variant | MODIFIER | c.*648delG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 648 | INFO_REALIGN_3_PRIME | chrX | 153074904 | ||||
chrX:153074916
|
AC | A | 1 | a0003c0003t0024 | 1 | HG02132.hp1 | 3_prime_UTR_variant | MODIFIER | c.*656delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 656 | INFO_REALIGN_3_PRIME | chrX | 153074916 | ||||
chrX:153074930
|
G | GT | 1 | a0018c0022t0010 | 1 | NA19060.hp2 | 3_prime_UTR_variant | MODIFIER | c.*669dupT | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 670 | INFO_REALIGN_3_PRIME | chrX | 153074930 | ||||
chrX:153074972
|
A | T | 1 | a0002c0002t0021 | 1 | NA18966.hp1 | 3_prime_UTR_variant | MODIFIER | c.*710A>T | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 2/2 | 710 | chrX | 153074972 |
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chrX:153072625
|
G | GGA | 1 | a0019c0023t0027g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-129+19_-129+20ins others(2): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | chrX | 153072625 | ||||||
chrX:153072626
|
A | AG | 1 | a0017c0013t0011g0013 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-129+25dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072626 | |||||
chrX:153072626
|
A | G | 1 | a0019c0023t0027g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-129+20A>G | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | chrX | 153072626 | ||||||
chrX:153072646
|
G | C | 1 | a0003c0003t0020g0003 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-129+40G>C | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | chrX | 153072646 | ||||||
chrX:153072657
|
GC | G | 1 | a0007c0008t0012g0012 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.-129+55delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072657 | |||||
chrX:153072697
|
C | CG | 1 | a0019c0023t0027g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-129+95dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072697 | |||||
chrX:153072705
|
C | CGGTCCGG | 3 | a0002c0006t0004g0002a0005c0016t0004g0002a0016c0015t0017g0010 | 4 | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.-129+130_-129+136d others(9): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072705 | |||||
chrX:153072705
|
C | CGGTCCGG others(14): Show |
1 | a0012c0014t0016g0011 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-129+116_-129+136d others(23): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072705 | |||||
chrX:153072705
|
CGGTCCGG others(7): Show |
C | 1 | a0001c0001t0003g0004 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.-129+123_-129+136d others(16): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072705 | |||||
chrX:153072736
|
TC | T | 1 | a0007c0008t0012g0012 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.-129+132delC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072736 | |||||
chrX:153072738
|
C | CG | 1 | a0017c0013t0011g0013 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-129+137dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072738 | |||||
chrX:153072749
|
C | CG | 1 | a0020c0024t0031g0009 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-129+147dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072749 | |||||
chrX:153072757
|
A | AGG | 1 | a0018c0022t0010g0008 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-129+152_-129+153d others(4): Show |
PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072757 | |||||
chrX:153072763
|
A | AG | 1 | a0007c0008t0012g0012 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.-129+158dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072763 | |||||
chrX:153072771
|
A | AG | 1 | a0007c0008t0012g0012 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.-128-161dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072771 | |||||
chrX:153072778
|
A | AC | 1 | a0002c0002t0009g0005 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.-128-150dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072778 | |||||
chrX:153072785
|
C | CG | 1 | a0007c0008t0012g0012 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.-128-143dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072785 | |||||
chrX:153072793
|
C | CG | 1 | a0016c0015t0017g0010 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-128-138dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072793 | |||||
chrX:153072809
|
C | CG | 2 | a0018c0022t0010g0008a0019c0023t0027g0014 | 2 | HG02622.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.-128-122dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072809 | |||||
chrX:153072830
|
C | CG | 1 | a0017c0013t0011g0013 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-128-103dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072830 | |||||
chrX:153072835
|
A | AG | 1 | a0019c0023t0027g0014 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.-128-96dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072835 | |||||
chrX:153072843
|
A | AG | 1 | a0001c0001t0001g0007 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-128-89dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072843 | |||||
chrX:153072878
|
A | AC | 1 | a0018c0022t0010g0008 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-128-56dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072878 | |||||
chrX:153072892
|
A | AG | 1 | a0001c0001t0001g0007 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-128-39dupG | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072892 | |||||
chrX:153072917
|
G | GC | 1 | a0002c0002t0006g0006 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.-128-15dupC | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | 153072917 | |||||
chrX:153072920
|
C | A | 1 | a0007c0008t0012g0012 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.-128-15C>A | PNMA6A | ENSG00000235961.6 | transcript | ENST00000421798.5 | protein_coding | 1/1 | chrX | 153072920 |