Item | Value |
---|---|
geneid | 377630 |
ensemblid | ENSG00000223443.3 |
hgncid | 34434 |
symbol | USP17L2 |
name | ubiquitin specific peptidase 17 like family member 2 |
refseq_nuc | NM_201402.3 |
refseq_prot | NP_958804.2 |
ensembl_nuc | ENST00000333796.4 |
ensembl_prot | ENSP00000333329.3 |
mane_status | MANE Select |
chr | chr8 |
start | 12136435 |
end | 12138849 |
strand | - |
ver | v1.2 |
region | chr8:12136435-12138849 |
region5000 | chr8:12131435-12143849 |
regionname0 | USP17L2_chr8_12136435_12138849 |
regionname5000 | USP17L2_chr8_12131435_12143849 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 530 | 179 | 30 | 34 | 94 | 4 | 16 | 75 | USP17L2_chr8_12131435_12143849 | USP17L2 | MEDDS others(525): Show |
chr8 | 12131435 | 12143849 |
a0002 | 0/0 | 0 | 16 | 12 | 0 | 2 | 0 | 2 | 1 | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 1590 | 179 | 30 | 34 | 94 | 4 | 16 | USP17L2_chr8_12131435_12143849 | USP17L2 | ATGGA others(1585): Show |
chr8 | 12131435 | 12143849 | ||
a0002c0000 | 0/0 | 0 | 16 | 12 | 0 | 2 | 0 | 2 | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 2415 | 179 | 30 | 34 | 94 | 4 | 16 | USP17L2_chr8_12131435_12143849 | USP17L2 | GTCAT others(2410): Show |
chr8 | 12131435 | 12143849 |
a0002c0000t0000 | 0/0 | 0 | 16 | 12 | 0 | 2 | 0 | 2 | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0000 | 1/0 | 179 | 30 | 34 | 94 | 4 | 16 | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
a0002c0000t0000g0000 | 0/0 | 16 | 12 | 0 | 2 | 0 | 2 | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00140 | hp1 | a0001 | c0001 | t0001 | g0000 | EUR | GBR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0000 | EUR | GBR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00408 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00408 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00438 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00597 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00597 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | CHS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01167 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01167 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01169 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PUR | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | CLM | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01258 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | CLM | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0000 | EUR | IBS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0000 | EUR | IBS | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01943 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01975 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01981 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02129 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02135 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02145 | hp2 | a0002 | c0000 | t0000 | g0000 | AFR | ACB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02300 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02300 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02523 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02615 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02615 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02647 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02717 | hp2 | a0002 | c0000 | t0000 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02809 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02897 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02897 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02922 | hp2 | a0002 | c0000 | t0000 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02965 | hp1 | a0002 | c0000 | t0000 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02970 | hp1 | a0002 | c0000 | t0000 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03041 | hp2 | a0002 | c0000 | t0000 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03130 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03130 | hp2 | a0002 | c0000 | t0000 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03139 | hp1 | a0002 | c0000 | t0000 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03139 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ESN | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03209 | hp1 | a0002 | c0000 | t0000 | g0000 | AFR | MSL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03209 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | MSL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03225 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | MSL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | MSL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | MSL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03453 | hp2 | a0002 | c0000 | t0000 | g0000 | AFR | MSL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03492 | hp1 | a0002 | c0000 | t0000 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03492 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03540 | hp1 | a0002 | c0000 | t0000 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03540 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | GWD | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03688 | hp1 | a0002 | c0000 | t0000 | g0000 | SAS | STU | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03704 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | PJL | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03831 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | BEB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | BEB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG04199 | hp2 | a0001 | c0001 | t0001 | g0000 | SAS | STU | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | CHB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18747 | hp2 | a0002 | c0000 | t0000 | g0000 | EAS | CHB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18939 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18939 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18940 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18940 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18949 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18949 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18960 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18963 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18964 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18966 | hp2 | a0002 | c0000 | t0000 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18969 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18970 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18970 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18977 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18977 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18988 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18992 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18997 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18997 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19000 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19006 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19006 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19007 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19007 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19009 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19009 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19010 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19010 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19012 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | LWK | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19030 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | LWK | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19059 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19059 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19072 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19072 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19079 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19082 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19082 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19083 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA19087 | hp2 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01123 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | CLM | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG01123 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | CLM | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02109 | hp1 | a0002 | c0000 | t0000 | g0000 | AFR | ACB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
HG02109 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | ACB | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0000 | AFR | USA | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0000 | AFR | USA | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0000 | REF | REF | USP17L2_chr8_12131435_12143849 | USP17L2 | chr8 | 12131435 | 12143849 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12137195 | G | T | 1 | a0001 | 1 | NA18964.hp2 | missense_variant | MODERATE | c.1566C>A | p.Ser522Arg | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1655/2415 | 1566/1593 | 522/530 | chr8 | 12137195 | |||
chr8:12137211 | C | T | 1 | a0001 | 1 | NA19084.hp2 | missense_variant | MODERATE | c.1550G>A | p.Gly517Glu | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1639/2415 | 1550/1593 | 517/530 | chr8 | 12137211 | |||
chr8:12137400 | T | A | 1 | a0001 | 1 | NA18992.hp1 | missense_variant | MODERATE | c.1361A>T | p.Lys454Ile | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1450/2415 | 1361/1593 | 454/530 | chr8 | 12137400 | |||
chr8:12137448 | T | C | 1 | a0001 | 78 | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(75): Show |
missense_variant | MODERATE | c.1313A>G | p.Lys438Arg | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1402/2415 | 1313/1593 | 438/530 | chr8 | 12137448 | |||
chr8:12137494 | G | A | 1 | a0001 | 1 | NA18939.hp2 | missense_variant | MODERATE | c.1267C>T | p.Arg423Cys | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1356/2415 | 1267/1593 | 423/530 | chr8 | 12137494 | |||
chr8:12137525 | G | T | 1 | a0001 | 1 | NA18939.hp1 | missense_variant | MODERATE | c.1236C>A | p.His412Gln | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1325/2415 | 1236/1593 | 412/530 | chr8 | 12137525 | |||
chr8:12137553 | G | A | 1 | a0001 | 64 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(61): Show |
missense_variant | MODERATE | c.1208C>T | p.Ala403Val | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1297/2415 | 1208/1593 | 403/530 | chr8 | 12137553 | |||
chr8:12137577 | C | T | 1 | a0001 | 2 | NA19004.hp1 NA19072.hp1 |
missense_variant | MODERATE | c.1184G>A | p.Gly395Asp | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1273/2415 | 1184/1593 | 395/530 | chr8 | 12137577 | |||
chr8:12137578 | C | T | 1 | a0001 | 6 | HG02145.hp1 HG02258.hp1 HG02615.hp1 others(3): Show |
missense_variant | MODERATE | c.1183G>A | p.Gly395Ser | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1272/2415 | 1183/1593 | 395/530 | chr8 | 12137578 | |||
chr8:12137613 | T | C | 1 | a0001 | 1 | HG02129.hp1 | missense_variant | MODERATE | c.1148A>G | p.Glu383Gly | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1237/2415 | 1148/1593 | 383/530 | chr8 | 12137613 | |||
chr8:12137739 | G | A | 1 | a0001 | 3 | HG01123.hp1 HG03017.hp2 HG03704.hp2 |
missense_variant | MODERATE | c.1022C>T | p.Ala341Val | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1111/2415 | 1022/1593 | 341/530 | chr8 | 12137739 | |||
chr8:12137767 | C | T | 1 | a0001 | 4 | HG02897.hp1 HG02965.hp2 HG03130.hp1 others(1): Show |
missense_variant | MODERATE | c.994G>A | p.Asp332Asn | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1083/2415 | 994/1593 | 332/530 | chr8 | 12137767 | |||
chr8:12137966 | C | G | 1 | a0001 | 4 | HG02109.hp2 HG02647.hp2 HG02717.hp1 others(1): Show |
missense_variant | MODERATE | c.795G>C | p.Lys265Asn | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 884/2415 | 795/1593 | 265/530 | chr8 | 12137966 | |||
chr8:12138031 | C | T | 1 | a0001 | 62 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(59): Show |
missense_variant | MODERATE | c.730G>A | p.Glu244Lys | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 819/2415 | 730/1593 | 244/530 | chr8 | 12138031 | |||
chr8:12138121 | A | G | 1 | a0001 | 4 | HG02897.hp1 HG02965.hp2 HG03130.hp1 others(1): Show |
missense_variant | MODERATE | c.640T>C | p.Ser214Pro | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 729/2415 | 640/1593 | 214/530 | chr8 | 12138121 | |||
chr8:12138233 | G | C | 1 | a0001 | 3 | HG02523.hp2 NA18950.hp2 NA18968.hp1 |
missense_variant | MODERATE | c.528C>G | p.Cys176Trp | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 617/2415 | 528/1593 | 176/530 | chr8 | 12138233 | |||
chr8:12138276 | T | A | 1 | a0001 | 5 | HG00733.hp1 HG02735.hp2 HG03041.hp1 others(2): Show |
missense_variant | MODERATE | c.485A>T | p.His162Leu | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 574/2415 | 485/1593 | 162/530 | chr8 | 12138276 | |||
chr8:12138430 | G | A | 1 | a0001 | 1 | HG02129.hp1 | missense_variant | MODERATE | c.331C>T | p.Arg111Trp | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 420/2415 | 331/1593 | 111/530 | chr8 | 12138430 | |||
chr8:12138517 | G | A | 1 | a0001 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.244C>T | p.Leu82Phe | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 333/2415 | 244/1593 | 82/530 | chr8 | 12138517 | |||
chr8:12138565 | T | C | 1 | a0001 | 4 | HG02897.hp1 HG02965.hp2 HG03130.hp1 others(1): Show |
missense_variant | MODERATE | c.196A>G | p.Lys66Glu | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 285/2415 | 196/1593 | 66/530 | chr8 | 12138565 | |||
chr8:12138577 | G | A | 1 | a0001 | 65 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(62): Show |
missense_variant | MODERATE | c.184C>T | p.Leu62Phe | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 273/2415 | 184/1593 | 62/530 | chr8 | 12138577 | |||
chr8:12138578 | C | G | 1 | a0001 | 11 | HG01975.hp2 HG02523.hp2 NA18945.hp2 others(8): Show |
missense_variant | MODERATE | c.183G>C | p.Gln61His | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 272/2415 | 183/1593 | 61/530 | chr8 | 12138578 | |||
chr8:12138603 | T | C | 1 | a0001 | 1 | NA18949.hp2 | missense_variant | MODERATE | c.158A>G | p.Asp53Gly | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 247/2415 | 158/1593 | 53/530 | chr8 | 12138603 | |||
chr8:12138641 | C | G | 1 | a0001 | 64 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(61): Show |
missense_variant | MODERATE | c.120G>C | p.Lys40Asn | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 209/2415 | 120/1593 | 40/530 | chr8 | 12138641 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12137354 | C | T | 1 | a0001c0001 | 1 | NA18961.hp2 | synonymous_variant | LOW | c.1407G>A | p.Ser469Ser | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1496/2415 | 1407/1593 | 469/530 | chr8 | 12137354 | |||
chr8:12137507 | G | A | 1 | a0001c0001 | 3 | HG02897.hp1 HG02965.hp2 HG03130.hp1 |
synonymous_variant | LOW | c.1254C>T | p.Pro418Pro | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1343/2415 | 1254/1593 | 418/530 | chr8 | 12137507 | |||
chr8:12137765 | G | A | 1 | a0001c0001 | 149 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(146): Show |
synonymous_variant | LOW | c.996C>T | p.Asp332Asp | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1085/2415 | 996/1593 | 332/530 | chr8 | 12137765 | |||
chr8:12137975 | C | T | 1 | a0001c0001 | 72 | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(69): Show |
synonymous_variant | LOW | c.786G>A | p.Pro262Pro | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 875/2415 | 786/1593 | 262/530 | chr8 | 12137975 | |||
chr8:12137999 | G | A | 1 | a0001c0001 | 4 | HG02897.hp1 HG02965.hp2 HG03130.hp1 others(1): Show |
synonymous_variant | LOW | c.762C>T | p.Cys254Cys | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 851/2415 | 762/1593 | 254/530 | chr8 | 12137999 | |||
chr8:12138314 | C | T | 1 | a0001c0001 | 6 | HG00733.hp2 HG01168.hp1 HG01169.hp2 others(3): Show |
synonymous_variant | LOW | c.447G>A | p.Leu149Leu | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 536/2415 | 447/1593 | 149/530 | chr8 | 12138314 | |||
chr8:12138560 | C | T | 1 | a0001c0001 | 1 | HG01258.hp2 | synonymous_variant | LOW | c.201G>A | p.Lys67Lys | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 290/2415 | 201/1593 | 67/530 | chr8 | 12138560 | |||
chr8:12138743 | G | A | 1 | a0001c0001 | 3 | HG00140.hp2 HG01243.hp1 HG01981.hp2 |
synonymous_variant | LOW | c.18C>T | p.Leu6Leu | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 107/2415 | 18/1593 | 6/530 | chr8 | 12138743 | |||
chr8:12138752 | G | A | 1 | a0001c0001 | 3 | NA19004.hp2 NA19072.hp2 NA19079.hp1 |
synonymous_variant | LOW | c.9C>T | p.Asp3Asp | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 98/2415 | 9/1593 | 3/530 | chr8 | 12138752 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12136462 | C | T | 1 | a0001c0001t0001 | 1 | HG00140.hp2 | 3_prime_UTR_variant | MODIFIER | c.*706G>A | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 706 | chr8 | 12136462 | ||||||
chr8:12136523 | T | G | 1 | a0001c0001t0001 | 78 | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(75): Show |
3_prime_UTR_variant | MODIFIER | c.*645A>C | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 645 | chr8 | 12136523 | ||||||
chr8:12136529 | A | C | 1 | a0001c0001t0001 | 1 | NA18961.hp2 | 3_prime_UTR_variant | MODIFIER | c.*639T>G | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 639 | chr8 | 12136529 | ||||||
chr8:12136530 | T | C | 1 | a0001c0001t0001 | 153 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(150): Show |
3_prime_UTR_variant | MODIFIER | c.*638A>G | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 638 | chr8 | 12136530 | ||||||
chr8:12136532 | G | A | 1 | a0001c0001t0001 | 1 | HG01975.hp2 | 3_prime_UTR_variant | MODIFIER | c.*636C>T | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 636 | chr8 | 12136532 | ||||||
chr8:12136720 | C | A | 1 | a0001c0001t0001 | 2 | HG01168.hp1 HG01169.hp2 |
3_prime_UTR_variant | MODIFIER | c.*448G>T | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 448 | chr8 | 12136720 | ||||||
chr8:12136754 | C | G | 1 | a0001c0001t0001 | 1 | NA19072.hp2 | 3_prime_UTR_variant | MODIFIER | c.*414G>C | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 414 | chr8 | 12136754 | ||||||
chr8:12136762 | G | T | 1 | a0001c0001t0001 | 65 | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(62): Show |
3_prime_UTR_variant | MODIFIER | c.*406C>A | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 406 | chr8 | 12136762 | ||||||
chr8:12136912 | T | G | 1 | a0001c0001t0001 | 1 | HG02135.hp1 | 3_prime_UTR_variant | MODIFIER | c.*256A>C | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 256 | chr8 | 12136912 | ||||||
chr8:12136926 | C | T | 1 | a0001c0001t0001 | 78 | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(75): Show |
3_prime_UTR_variant | MODIFIER | c.*242G>A | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 242 | chr8 | 12136926 | ||||||
chr8:12137071 | G | C | 1 | a0001c0001t0001 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*97C>G | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 97 | chr8 | 12137071 | ||||||
chr8:12137090 | C | T | 1 | a0001c0001t0001 | 1 | NA18988.hp2 | 3_prime_UTR_variant | MODIFIER | c.*78G>A | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 78 | chr8 | 12137090 | ||||||
chr8:12137167 | A | G | 1 | a0001c0001t0001 | 1 | NA18997.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1T>C | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1 | chr8 | 12137167 | ||||||
chr8:12138761 | G | A | 1 | a0001c0001t0001 | 4 | HG02735.hp2 HG03041.hp1 HG03209.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-1C>T | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 1 | chr8 | 12138761 | ||||||
chr8:12138801 | T | C | 1 | a0001c0001t0001 | 176 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(173): Show |
5_prime_UTR_variant | MODIFIER | c.-41A>G | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 41 | chr8 | 12138801 | ||||||
chr8:12138801 | T | G | 1 | a0001c0001t0001 | 1 | HG03688.hp2 | 5_prime_UTR_variant | MODIFIER | c.-41A>C | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | 41 | chr8 | 12138801 |
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 |
---|