Item | Value |
---|---|
geneid | 8209 |
ensemblid | ENSG00000160221.18 |
hgncid | 1273 |
symbol | GATD3 |
name | glutamine amidotransferase class 1 domain containing 3 |
refseq_nuc | NM_004649.8 |
refseq_prot | NP_004640.4 |
ensembl_nuc | ENST00000291577.11 |
ensembl_prot | ENSP00000291577.6 |
mane_status | MANE Select |
chr | chr21 |
start | 44133683 |
end | 44145711 |
strand | + |
ver | v1.2 |
region | chr21:44133683-44145711 |
region5000 | chr21:44128683-44150711 |
regionname0 | GATD3_chr21_44133683_44145711 |
regionname5000 | GATD3_chr21_44128683_44150711 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 268 | 34 | 24 | 5 | 5 | 0 | 0 | 3 | GATD3_chr21_44128683_44150711 | GATD3 | MAAVR others(263): Show |
chr21 | 44128683 | 44150711 |
a0002 | 0/0 | 268 | 20 | 14 | 3 | 3 | 0 | 0 | 1 | GATD3_chr21_44128683_44150711 | GATD3 | MAAVR others(263): Show |
chr21 | 44128683 | 44150711 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 804 | 34 | 24 | 5 | 5 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | ATGGC others(799): Show |
chr21 | 44128683 | 44150711 | ||
a0002c0002 | 0/0 | 804 | 20 | 14 | 3 | 3 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | ATGGC others(799): Show |
chr21 | 44128683 | 44150711 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1584 | 32 | 23 | 4 | 5 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | GCTGT others(1579): Show |
chr21 | 44128683 | 44150711 |
a0001c0001t0002 | 0/0 | 1584 | 2 | 1 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | GCTGT others(1579): Show |
chr21 | 44128683 | 44150711 |
a0002c0002t0002 | 0/0 | 1584 | 7 | 7 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | GCTGT others(1579): Show |
chr21 | 44128683 | 44150711 |
a0002c0002t0003 | 0/0 | 1584 | 7 | 7 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | GCTGT others(1579): Show |
chr21 | 44128683 | 44150711 |
a0002c0002t0004 | 0/0 | 1580 | 4 | 0 | 2 | 2 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | GCTGT others(1575): Show |
chr21 | 44128683 | 44150711 |
a0002c0002t0005 | 0/0 | 1580 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | GCTGT others(1575): Show |
chr21 | 44128683 | 44150711 |
a0002c0002t0006 | 0/0 | 1584 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | GCTGT others(1579): Show |
chr21 | 44128683 | 44150711 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 8 | 8 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0002 | 0/0 | 6 | 0 | 2 | 4 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0005 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0006 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0001c0001t0002g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0002g0004 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0003g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0003g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0003g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0003g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0004g0003 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0004g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0005g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
a0002c0002t0006g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01081 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PUR | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG01081 | hp2 | a0001 | c0001 | t0002 | g0020 | AMR | PUR | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG01358 | hp1 | a0002 | c0002 | t0004 | g0003 | AMR | CLM | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG01358 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02148 | hp1 | a0002 | c0002 | t0004 | g0021 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02155 | hp2 | a0002 | c0002 | t0004 | g0003 | EAS | CDX | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02257 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02257 | hp2 | a0002 | c0002 | t0002 | g0004 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02280 | hp2 | a0002 | c0002 | t0003 | g0012 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02300 | hp1 | a0001 | c0001 | t0001 | g0022 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02300 | hp2 | a0002 | c0002 | t0005 | g0003 | AMR | PEL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02717 | hp1 | a0002 | c0002 | t0003 | g0008 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02717 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02723 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02723 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02809 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02809 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0024 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02922 | hp2 | a0002 | c0002 | t0002 | g0027 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02965 | hp1 | a0002 | c0002 | t0003 | g0007 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02976 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03130 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03130 | hp2 | a0001 | c0001 | t0001 | g0017 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03139 | hp1 | a0002 | c0002 | t0003 | g0008 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03195 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03195 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03209 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03209 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03453 | hp1 | a0002 | c0002 | t0002 | g0004 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03453 | hp2 | a0001 | c0001 | t0001 | g0013 | AFR | MSL | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03516 | hp1 | a0002 | c0002 | t0002 | g0003 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03516 | hp2 | a0002 | c0002 | t0002 | g0004 | AFR | ESN | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03540 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG03540 | hp2 | a0002 | c0002 | t0003 | g0011 | AFR | GWD | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA18612 | hp1 | a0002 | c0002 | t0004 | g0003 | EAS | CHB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA19043 | hp1 | a0002 | c0002 | t0003 | g0007 | AFR | LWK | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA19058 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA19058 | hp2 | a0002 | c0002 | t0006 | g0019 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0005 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
HG02559 | hp2 | a0002 | c0002 | t0003 | g0010 | AFR | ACB | GATD3_chr21_44128683_44150711 | GATD3 | chr21 | 44128683 | 44150711 |
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:44144884 | C | G | 1 | a0002 | 20 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(17): Show |
missense_variant | MODERATE | c.742C>G | p.Leu248Val | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 757/1584 | 742/807 | 248/268 | chr21 | 44144884 |
view | 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 |
---|
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:44145049 | CT | C | 4 | a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 others(1): Show |
13 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*112delT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 112 | INFO_REALIGN_3_PRIME | chr21 | 44145049 | |||||
chr21:44145133 | G | T | 1 | a0002c0002t0006 | 1 | NA19058.hp2 | 3_prime_UTR_variant | MODIFIER | c.*184G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 184 | chr21 | 44145133 | ||||||
chr21:44145258 | C | T | 1 | a0002c0002t0005 | 1 | HG02300.hp2 | 3_prime_UTR_variant | MODIFIER | c.*309C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 309 | chr21 | 44145258 | ||||||
chr21:44145280 | GGTTA | G | 2 | a0002c0002t0004 a0002c0002t0005 |
5 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*339_*342delAGTT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 339 | INFO_REALIGN_3_PRIME | chr21 | 44145280 | |||||
chr21:44145591 | C | T | 6 | a0001c0001t0002 a0002c0002t0002 a0002c0002t0003 others(3): Show |
22 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*642C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 642 | chr21 | 44145591 | ||||||
chr21:44145679 | G | A | 1 | a0002c0002t0003 | 7 | HG02280.hp2 HG02559.hp2 HG02717.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*730G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 7/7 | 730 | chr21 | 44145679 |
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:44133921 | C | T | 2 | a0002c0002t0002g0004 a0002c0002t0002g0027 |
6 | HG02257.hp2 HG02809.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.141+83C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 1/6 | chr21 | 44133921 | |||||||
chr21:44134225 | C | G | 1 | a0001c0001t0001g0026 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.194+71C>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44134225 | |||||||
chr21:44135212 | G | A | 1 | a0001c0001t0002g0009 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.195-848G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44135212 | |||||||
chr21:44135389 | C | T | 2 | a0001c0001t0001g0024 a0001c0001t0001g0025 |
2 | HG02886.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.195-671C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44135389 | |||||||
chr21:44135999 | G | T | 1 | a0001c0001t0001g0023 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.195-61G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44135999 | |||||||
chr21:44136053 | C | T | 1 | a0001c0001t0001g0022 | 1 | HG02300.hp1 | splice_region_variant&intron_variant | LOW | c.195-7C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 2/6 | chr21 | 44136053 | |||||||
chr21:44136275 | C | A | 5 | a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 others(2): Show |
7 | HG02280.hp2 HG02559.hp2 HG02717.hp1 others(4): Show |
intron_variant | MODIFIER | c.308+102C>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 3/6 | chr21 | 44136275 | |||||||
chr21:44136304 | A | G | 16 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0009 others(13): Show |
24 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(21): Show |
intron_variant | MODIFIER | c.308+131A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 3/6 | chr21 | 44136304 | |||||||
chr21:44136558 | T | C | 1 | a0001c0001t0001g0024 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.308+385T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 3/6 | chr21 | 44136558 | |||||||
chr21:44137345 | G | A | 2 | a0001c0001t0001g0001 a0001c0001t0001g0013 |
9 | HG02257.hp1 HG02280.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.428+49G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44137345 | |||||||
chr21:44137866 | G | GT | 7 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(4): Show |
9 | HG02148.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.428+585dupT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr21 | 44137866 | ||||||
chr21:44137906 | T | C | 3 | a0002c0002t0003g0007 a0002c0002t0003g0010 a0002c0002t0003g0011 |
4 | HG02559.hp2 HG02965.hp1 HG03540.hp2 others(1): Show |
intron_variant | MODIFIER | c.428+610T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44137906 | |||||||
chr21:44138079 | C | T | 2 | a0001c0001t0002g0009 a0001c0001t0002g0020 |
2 | HG01081.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.428+783C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44138079 | |||||||
chr21:44139098 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.429-1152C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139098 | |||||||
chr21:44139579 | G | A | 1 | a0001c0001t0001g0016 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.429-671G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139579 | |||||||
chr21:44139652 | G | A | 1 | a0001c0001t0001g0023 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.429-598G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139652 | |||||||
chr21:44139811 | A | G | 14 | a0001c0001t0002g0009 a0001c0001t0002g0020 a0002c0002t0002g0003 others(11): Show |
22 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show |
intron_variant | MODIFIER | c.429-439A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139811 | |||||||
chr21:44139893 | G | A | 1 | a0002c0002t0006g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.429-357G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44139893 | |||||||
chr21:44140164 | G | A | 1 | a0001c0001t0001g0017 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.429-86G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 4/6 | chr21 | 44140164 | |||||||
chr21:44140873 | G | A | 8 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show |
22 | HG01358.hp2 HG02148.hp2 HG02155.hp1 others(19): Show |
intron_variant | MODIFIER | c.521+531G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44140873 | |||||||
chr21:44141067 | A | G | 1 | a0001c0001t0001g0015 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.521+725A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44141067 | |||||||
chr21:44141942 | A | G | 1 | a0001c0001t0001g0014 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.522-1263A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44141942 | |||||||
chr21:44141972 | G | GT | 12 | a0001c0001t0002g0009 a0001c0001t0002g0020 a0002c0002t0002g0003 others(9): Show |
16 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(13): Show |
intron_variant | MODIFIER | c.522-1229dupT | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | 44141972 | ||||||
chr21:44141976 | T | TG | 2 | a0002c0002t0002g0004 a0002c0002t0002g0027 |
6 | HG02257.hp2 HG02809.hp1 HG02922.hp2 others(3): Show |
intron_variant | MODIFIER | c.522-1224dupG | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | 44141976 | ||||||
chr21:44141983 | G | A | 1 | a0002c0002t0002g0027 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.522-1222G>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44141983 | |||||||
chr21:44142061 | A | G | 1 | a0002c0002t0003g0011 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.522-1144A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142061 | |||||||
chr21:44142364 | G | T | 1 | a0002c0002t0006g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.522-841G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142364 | |||||||
chr21:44142382 | A | C | 1 | a0001c0001t0001g0018 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.522-823A>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142382 | |||||||
chr21:44142425 | GGGATGGG others(5): Show |
G | 1 | a0002c0002t0003g0010 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.522-779_522-768del others(12): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44142425 | |||||||
chr21:44143110 | G | T | 1 | a0002c0002t0006g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.522-95G>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 5/6 | chr21 | 44143110 | |||||||
chr21:44143762 | C | T | 2 | a0001c0001t0001g0001 a0001c0001t0001g0013 |
9 | HG02257.hp1 HG02280.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.678+401C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44143762 | |||||||
chr21:44143935 | ACCAAGAA others(17): Show |
A | 12 | a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 others(9): Show |
20 | HG01358.hp1 HG02148.hp1 HG02155.hp2 others(17): Show |
intron_variant | MODIFIER | c.678+577_678+600del others(24): Show |
GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr21 | 44143935 | ||||||
chr21:44144178 | A | G | 15 | a0001c0001t0001g0013 a0001c0001t0002g0009 a0001c0001t0002g0020 others(12): Show |
23 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(20): Show |
intron_variant | MODIFIER | c.679-643A>G | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144178 | |||||||
chr21:44144179 | T | C | 1 | a0002c0002t0006g0019 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.679-642T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144179 | |||||||
chr21:44144184 | C | T | 1 | a0002c0002t0003g0012 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.679-637C>T | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144184 | |||||||
chr21:44144185 | T | C | 1 | a0002c0002t0003g0012 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.679-636T>C | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144185 | |||||||
chr21:44144578 | T | A | 14 | a0001c0001t0002g0009 a0001c0001t0002g0020 a0002c0002t0002g0003 others(11): Show |
22 | HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show |
intron_variant | MODIFIER | c.679-243T>A | GATD3 | ENSG00000160221.18 | transcript | ENST00000291577.11 | protein_coding | 6/6 | chr21 | 44144578 |