Item | Value |
---|---|
geneid | 100289462 |
ensemblid | ENSG00000177257.3 |
hgncid | 30193 |
symbol | DEFB4B |
name | defensin beta 4B |
refseq_nuc | NM_001205266.2 |
refseq_prot | NP_001192195.1 |
ensembl_nuc | ENST00000318157.3 |
ensembl_prot | ENSP00000424598.1 |
mane_status | MANE Select |
chr | chr8 |
start | 7414855 |
end | 7416863 |
strand | - |
ver | v1.2 |
region | chr8:7414855-7416863 |
region5000 | chr8:7409855-7421863 |
regionname0 | DEFB4B_chr8_7414855_7416863 |
regionname5000 | DEFB4B_chr8_7409855_7421863 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 64 | 141 | 18 | 44 | 66 | 5 | 8 | 58 | DEFB4B_chr8_7409855_7421863 | DEFB4B | MRVLY others(59): Show |
chr8 | 7409855 | 7421863 |
a0002 | 0/0 | 64 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | MRVLY others(59): Show |
chr8 | 7409855 | 7421863 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 192 | 66 | 11 | 17 | 30 | 3 | 5 | DEFB4B_chr8_7409855_7421863 | DEFB4B | ATGAG others(187): Show |
chr8 | 7409855 | 7421863 | ||
a0001c0002 | 0/0 | 192 | 61 | 4 | 18 | 34 | 2 | 3 | DEFB4B_chr8_7409855_7421863 | DEFB4B | ATGAG others(187): Show |
chr8 | 7409855 | 7421863 | ||
a0001c0003 | 0/0 | 192 | 14 | 3 | 9 | 2 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | ATGAG others(187): Show |
chr8 | 7409855 | 7421863 | ||
a0002c0004 | 0/0 | 192 | 1 | 0 | 0 | 0 | 1 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | ATGAG others(187): Show |
chr8 | 7409855 | 7421863 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 337 | 65 | 11 | 17 | 30 | 2 | 5 | DEFB4B_chr8_7409855_7421863 | DEFB4B | AGACT others(332): Show |
chr8 | 7409855 | 7421863 |
a0001c0001t0003 | 0/0 | 337 | 1 | 0 | 0 | 0 | 1 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | AGACT others(332): Show |
chr8 | 7409855 | 7421863 |
a0001c0002t0001 | 0/0 | 337 | 42 | 2 | 14 | 24 | 1 | 1 | DEFB4B_chr8_7409855_7421863 | DEFB4B | AGACT others(332): Show |
chr8 | 7409855 | 7421863 |
a0001c0002t0002 | 0/0 | 337 | 19 | 2 | 4 | 10 | 1 | 2 | DEFB4B_chr8_7409855_7421863 | DEFB4B | AGACT others(332): Show |
chr8 | 7409855 | 7421863 |
a0001c0003t0001 | 0/0 | 337 | 14 | 3 | 9 | 2 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | AGACT others(332): Show |
chr8 | 7409855 | 7421863 |
a0002c0004t0001 | 0/0 | 337 | 1 | 0 | 0 | 0 | 1 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | AGACT others(332): Show |
chr8 | 7409855 | 7421863 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 18 | 1 | 3 | 11 | 2 | 1 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0003 | 0/0 | 17 | 5 | 2 | 9 | 0 | 1 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0006 | 0/0 | 10 | 1 | 3 | 6 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0009 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0011 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0016 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0001t0003g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0001 | 0/0 | 22 | 1 | 8 | 11 | 1 | 1 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0004 | 0/0 | 11 | 0 | 1 | 10 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0008 | 0/0 | 4 | 0 | 4 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0002g0005 | 0/0 | 10 | 0 | 1 | 8 | 1 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0002g0010 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0002g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0002g0014 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0002t0002g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0003t0001g0007 | 0/0 | 9 | 0 | 7 | 2 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0003t0001g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0003t0001g0018 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0001c0003t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
a0002c0004t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00280 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | FIN | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00280 | hp2 | a0001 | c0002 | t0002 | g0005 | EUR | FIN | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00621 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00733 | hp1 | a0001 | c0002 | t0001 | g0031 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0035 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00738 | hp1 | a0001 | c0003 | t0001 | g0007 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG00738 | hp2 | a0001 | c0003 | t0001 | g0007 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01069 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01069 | hp2 | a0001 | c0002 | t0002 | g0013 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01081 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01081 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01099 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01106 | hp1 | a0001 | c0002 | t0001 | g0008 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01106 | hp2 | a0001 | c0002 | t0001 | g0008 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01167 | hp1 | a0001 | c0002 | t0001 | g0008 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01167 | hp2 | a0001 | c0003 | t0001 | g0007 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01168 | hp2 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01169 | hp1 | a0001 | c0003 | t0001 | g0007 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0009 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01175 | hp1 | a0001 | c0002 | t0001 | g0008 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01175 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01243 | hp2 | a0001 | c0002 | t0002 | g0010 | AMR | PUR | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01256 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01257 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01257 | hp2 | a0001 | c0003 | t0001 | g0007 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01258 | hp1 | a0001 | c0003 | t0001 | g0007 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01258 | hp2 | a0001 | c0002 | t0002 | g0013 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01346 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01346 | hp2 | a0001 | c0002 | t0002 | g0005 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01433 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0025 | AMR | CLM | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01516 | hp1 | a0001 | c0001 | t0003 | g0021 | EUR | IBS | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01516 | hp2 | a0002 | c0004 | t0001 | g0019 | EUR | IBS | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01884 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | ACB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01934 | hp1 | a0001 | c0003 | t0001 | g0036 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01934 | hp2 | a0001 | c0003 | t0001 | g0018 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01943 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01978 | hp1 | a0001 | c0003 | t0001 | g0007 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01978 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01981 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01981 | hp2 | a0001 | c0002 | t0001 | g0004 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01993 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | KHV | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02083 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02258 | hp2 | a0001 | c0002 | t0001 | g0032 | AFR | ACB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02300 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02300 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02630 | hp1 | a0001 | c0002 | t0001 | g0001 | AFR | GWD | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02630 | hp2 | a0001 | c0003 | t0001 | g0017 | AFR | GWD | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02738 | hp1 | a0001 | c0002 | t0002 | g0014 | SAS | PJL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02738 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02976 | hp1 | a0001 | c0003 | t0001 | g0017 | AFR | ESN | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ESN | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03017 | hp1 | a0001 | c0002 | t0002 | g0014 | SAS | PJL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03017 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03041 | hp1 | a0001 | c0003 | t0001 | g0018 | AFR | GWD | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03704 | hp1 | a0001 | c0001 | t0001 | g0033 | SAS | PJL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03704 | hp2 | a0001 | c0002 | t0001 | g0001 | SAS | PJL | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03942 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | BEB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | CHB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18612 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | CHB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18906 | hp1 | a0001 | c0002 | t0002 | g0010 | AFR | YRI | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18906 | hp2 | a0001 | c0002 | t0002 | g0010 | AFR | YRI | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18954 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18954 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18956 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18956 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18957 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18957 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18960 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18960 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18963 | hp1 | a0001 | c0003 | t0001 | g0007 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18963 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18972 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18972 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18976 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18976 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18978 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18978 | hp2 | a0001 | c0002 | t0001 | g0034 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18984 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18989 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18989 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18991 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18991 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18992 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18995 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18997 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18997 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19002 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19002 | hp2 | a0001 | c0002 | t0002 | g0015 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19054 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19054 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19056 | hp1 | a0001 | c0002 | t0001 | g0027 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19056 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19057 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19057 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19058 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19058 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19060 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19062 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19062 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19066 | hp2 | a0001 | c0003 | t0001 | g0007 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19067 | hp1 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19067 | hp2 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19076 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19076 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19077 | hp1 | a0001 | c0002 | t0001 | g0026 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19077 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19081 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19081 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19082 | hp1 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19082 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA19090 | hp2 | a0001 | c0002 | t0002 | g0015 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA20129 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | ASW | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA20129 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ASW | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA20752 | hp1 | a0001 | c0002 | t0001 | g0001 | EUR | TSI | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA20752 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | TSI | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0022 | AFR | ACB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
HG02486 | hp2 | a0001 | c0001 | t0001 | g0029 | AFR | ACB | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18955 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA18955 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA20300 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | USA | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | USA | DEFB4B_chr8_7409855_7421863 | DEFB4B | chr8 | 7409855 | 7421863 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7414857 | G | C | 1 | a0001 | 19 | HG00280.hp2 HG01069.hp2 HG01243.hp2 others(16): Show |
splice_region_variant | LOW | c.*104C>G | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 2/2 | chr8 | 7414857 | |||||||
chr8:7416780 | C | T | 1 | a0002 | 1 | HG01516.hp2 | missense_variant | MODERATE | c.48G>A | p.Met16Ile | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/2 | 84/337 | 48/195 | 16/64 | chr8 | 7416780 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7415072 | A | G | 2 | a0001c0002 a0002c0004 |
62 | HG00280.hp2 HG00733.hp1 HG01069.hp2 others(59): Show |
synonymous_variant | LOW | c.84T>C | p.Pro28Pro | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 2/2 | 120/337 | 84/195 | 28/64 | chr8 | 7415072 | |||
chr8:7416786 | A | G | 3 | a0001c0001 a0001c0002 a0002c0004 |
128 | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(125): Show |
synonymous_variant | LOW | c.42T>C | p.Phe14Phe | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/2 | 78/337 | 42/195 | 14/64 | chr8 | 7416786 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7414875 | T | A | 1 | a0001c0001t0003 | 1 | HG01516.hp1 | 3_prime_UTR_variant | MODIFIER | c.*86A>T | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 2/2 | 86 | chr8 | 7414875 | ||||||
chr8:7414917 | G | A | 1 | a0001c0002t0002 | 19 | HG00280.hp2 HG01069.hp2 HG01243.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*44C>T | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 2/2 | 44 | chr8 | 7414917 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7415133 | C | T | 2 | a0001c0001t0001g0022 a0001c0001t0001g0023 |
2 | HG01884.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.59-36G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415133 | |||||||
chr8:7415288 | A | G | 1 | a0001c0003t0001g0036 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.59-191T>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415288 | |||||||
chr8:7415307 | T | G | 2 | a0001c0001t0001g0012 a0001c0001t0001g0035 |
3 | HG00733.hp2 NA18978.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.59-210A>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415307 | |||||||
chr8:7415384 | G | T | 1 | a0001c0002t0001g0034 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.59-287C>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415384 | |||||||
chr8:7415390 | T | C | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-293A>G | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415390 | |||||||
chr8:7415404 | C | T | 1 | a0001c0001t0001g0016 | 2 | HG02738.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.59-307G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415404 | |||||||
chr8:7415528 | T | C | 5 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(2): Show |
22 | HG00544.hp1 HG00621.hp1 HG00733.hp2 others(19): Show |
intron_variant | MODIFIER | c.59-431A>G | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415528 | |||||||
chr8:7415640 | C | T | 4 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0025 others(1): Show |
14 | HG01099.hp2 HG01433.hp2 HG01943.hp2 others(11): Show |
intron_variant | MODIFIER | c.59-543G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415640 | |||||||
chr8:7415681 | C | G | 1 | a0001c0002t0001g0032 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.59-584G>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415681 | |||||||
chr8:7415687 | T | G | 2 | a0001c0001t0001g0028 a0001c0001t0001g0030 |
2 | NA18612.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.59-590A>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415687 | |||||||
chr8:7415689 | A | ATCCC | 5 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0003t0001g0007 others(2): Show |
16 | HG00738.hp1 HG00738.hp2 HG01081.hp1 others(13): Show |
intron_variant | MODIFIER | c.59-596_59-593dupGG others(2): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | A | ATCCCTCC others(1): Show |
7 | a0001c0001t0001g0009 a0001c0002t0001g0001 a0001c0002t0001g0004 others(4): Show |
43 | HG01081.hp2 HG01106.hp1 HG01106.hp2 others(40): Show |
intron_variant | MODIFIER | c.59-600_59-593dupGG others(6): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | A | ATCCCTCC others(5): Show |
4 | a0001c0001t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0031 others(1): Show |
6 | HG00733.hp1 HG01243.hp2 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.59-604_59-593dupGG others(10): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | A | ATCCCTCC others(9): Show |
3 | a0001c0001t0001g0022 a0001c0002t0002g0013 a0001c0002t0002g0015 |
5 | HG01069.hp2 HG01258.hp2 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.59-608_59-593dupGG others(14): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | A | ATCCCTCC others(13): Show |
1 | a0001c0002t0002g0005 | 10 | HG00280.hp2 HG01346.hp2 NA18954.hp2 others(7): Show |
intron_variant | MODIFIER | c.59-612_59-593dupGG others(18): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | A | ATCCCTCT others(13): Show |
1 | a0001c0002t0002g0014 | 2 | HG02738.hp1 HG03017.hp1 |
intron_variant | MODIFIER | c.59-593_59-592insGG others(18): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | A | C | 1 | a0001c0002t0001g0034 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.59-592T>G | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | A | T | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-592T>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415689 | ATCCC | A | 4 | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0025 others(1): Show |
14 | HG01099.hp2 HG01433.hp2 HG01943.hp2 others(11): Show |
intron_variant | MODIFIER | c.59-596_59-593delGG others(2): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415689 | |||||||
chr8:7415705 | C | CTCCTTCC others(5): Show |
1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-609_59-608insAG others(10): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415705 | |||||||
chr8:7415709 | C | T | 1 | a0001c0001t0001g0030 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.59-612G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415709 | |||||||
chr8:7415729 | C | G | 6 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(3): Show |
23 | HG00544.hp1 HG00621.hp1 HG00733.hp2 others(20): Show |
intron_variant | MODIFIER | c.59-632G>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415729 | |||||||
chr8:7415733 | C | T | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-636G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415733 | |||||||
chr8:7415743 | A | C | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-646T>G | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415743 | |||||||
chr8:7415746 | T | C | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-649A>G | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415746 | |||||||
chr8:7415747 | G | T | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-650C>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415747 | |||||||
chr8:7415750 | C | CGCCTCCC others(1): Show |
5 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(2): Show |
22 | HG00544.hp1 HG00621.hp1 HG00733.hp2 others(19): Show |
intron_variant | MODIFIER | c.59-661_59-654dupAG others(6): Show |
DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415750 | |||||||
chr8:7415751 | G | A | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-654C>T | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415751 | |||||||
chr8:7415754 | T | A | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-657A>T | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415754 | |||||||
chr8:7415755 | C | G | 1 | a0001c0001t0001g0028 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.59-658G>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415755 | |||||||
chr8:7415782 | C | T | 2 | a0001c0002t0001g0026 a0001c0002t0001g0027 |
2 | NA19056.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.59-685G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415782 | |||||||
chr8:7415783 | G | A | 1 | a0001c0001t0001g0033 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.59-686C>T | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415783 | |||||||
chr8:7415851 | T | G | 2 | a0001c0002t0001g0004 a0001c0002t0001g0034 |
12 | HG01981.hp2 NA18612.hp2 NA18954.hp1 others(9): Show |
intron_variant | MODIFIER | c.59-754A>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415851 | |||||||
chr8:7415864 | C | T | 1 | a0001c0001t0001g0025 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.59-767G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7415864 | |||||||
chr8:7416020 | T | G | 1 | a0001c0002t0001g0008 | 4 | HG01106.hp1 HG01106.hp2 HG01167.hp1 others(1): Show |
intron_variant | MODIFIER | c.58+750A>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416020 | |||||||
chr8:7416071 | T | A | 5 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(2): Show |
22 | HG00544.hp1 HG00621.hp1 HG00733.hp2 others(19): Show |
intron_variant | MODIFIER | c.58+699A>T | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416071 | |||||||
chr8:7416160 | G | A | 1 | a0001c0001t0001g0035 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.58+610C>T | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416160 | |||||||
chr8:7416374 | G | T | 1 | a0001c0002t0002g0013 | 2 | HG01069.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.58+396C>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416374 | |||||||
chr8:7416421 | C | T | 4 | a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0023 others(1): Show |
6 | HG01168.hp1 HG01169.hp2 HG01243.hp1 others(3): Show |
intron_variant | MODIFIER | c.58+349G>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416421 | |||||||
chr8:7416429 | A | G | 1 | a0001c0003t0001g0017 | 2 | HG02630.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.58+341T>C | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416429 | |||||||
chr8:7416488 | G | T | 4 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(1): Show |
21 | HG00544.hp1 HG00621.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.58+282C>A | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416488 | |||||||
chr8:7416588 | GA | G | 4 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0020 others(1): Show |
21 | HG00544.hp1 HG00621.hp1 HG01099.hp1 others(18): Show |
intron_variant | MODIFIER | c.58+181delT | DEFB4B | ENSG00000177257.3 | transcript | ENST00000318157.3 | protein_coding | 1/1 | chr8 | 7416588 |