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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   DEFB4A_chr8_7889677_7901716  DEFB4A_chr8_7889677_7901716 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 1673
ensemblid ENSG00000171711.3
hgncid 2767
symbol DEFB4A
name defensin beta 4A
refseq_nuc NM_004942.4
refseq_prot NP_004933.1
ensembl_nuc ENST00000302247.3
ensembl_prot ENSP00000303532.2
mane_status MANE Select
chr chr8
start 7894677
end 7896716
strand +
ver v1.2
region chr8:7894677-7896716
region5000 chr8:7889677-7901716
regionname0 DEFB4A_chr8_7894677_7896716
regionname5000 DEFB4A_chr8_7889677_7901716

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 64 94 20 28 26 4 16 20 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 195 76 15 22 20 4 15 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
c0002 0/0 195 15 3 6 6 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
c0003 0/0 195 2 2 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
c0004 0/0 195 1 0 0 0 0 1 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 143 88 15 27 26 4 16 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
t0002 0/0 143 6 5 1 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 73 10 25 23 4 11 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0002 0/0 5 0 0 1 0 4 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0003 0/0 4 3 1 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0004 0/0 3 3 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0005 0/0 3 0 2 1 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0006 0/0 2 2 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0007 0/0 1 1 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0008 0/0 1 1 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0009 0/0 1 0 0 0 0 1 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
g0010 0/0 1 0 0 1 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 195 76 15 22 20 4 15 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
a0001c0002 0/0 195 15 3 6 6 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
a0001c0003 0/0 195 2 2 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
a0001c0004 0/0 195 1 0 0 0 0 1 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 337 76 15 22 20 4 15 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
a0001c0002t0001 0/0 337 11 0 5 6 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
a0001c0002t0002 0/0 337 4 3 1 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
a0001c0003t0002 0/0 337 2 2 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716
a0001c0004t0001 0/0 337 1 0 0 0 0 1 DEFB4A_chr8_7889677_7901716 DEFB4A copy fasta chr8 7889677 7901716

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 65 10 22 18 4 11 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0001t0001g0002 0/0 5 0 0 1 0 4 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0001t0001g0004 0/0 3 3 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0001t0001g0007 0/0 1 1 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0001t0001g0008 0/0 1 1 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0001t0001g0010 0/0 1 0 0 1 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0002t0001g0001 0/0 8 0 3 5 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0002t0001g0005 0/0 3 0 2 1 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0002t0002g0003 0/0 4 3 1 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0003t0002g0006 0/0 2 2 0 0 0 0 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
a0001c0004t0001g0009 0/0 1 0 0 0 0 1 DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0001 EUR GBR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG00099 hp2 a0001 c0001 t0001 g0001 EUR GBR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG00558 hp1 a0001 c0001 t0001 g0002 EAS CHS DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG00558 hp2 a0001 c0001 t0001 g0001 EAS CHS DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG00642 hp1 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG00642 hp2 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG00741 hp1 a0001 c0002 t0002 g0003 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG00741 hp2 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01070 hp1 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01070 hp2 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01168 hp1 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01168 hp2 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01169 hp1 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01169 hp2 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01243 hp1 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01243 hp2 a0001 c0001 t0001 g0001 AMR PUR DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01258 hp1 a0001 c0001 t0001 g0001 AMR CLM DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01258 hp2 a0001 c0001 t0001 g0001 AMR CLM DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01346 hp1 a0001 c0001 t0001 g0001 AMR CLM DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01346 hp2 a0001 c0002 t0001 g0005 AMR CLM DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01361 hp1 a0001 c0001 t0001 g0001 AMR CLM DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01361 hp2 a0001 c0001 t0001 g0001 AMR CLM DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01516 hp1 a0001 c0001 t0001 g0001 EUR IBS DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01516 hp2 a0001 c0001 t0001 g0001 EUR IBS DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01891 hp1 a0001 c0002 t0002 g0003 AFR ACB DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01891 hp2 a0001 c0001 t0001 g0007 AFR ACB DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01934 hp1 a0001 c0001 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01934 hp2 a0001 c0001 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01943 hp1 a0001 c0002 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01943 hp2 a0001 c0002 t0001 g0005 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01952 hp1 a0001 c0002 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01952 hp2 a0001 c0001 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01981 hp1 a0001 c0001 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG01981 hp2 a0001 c0001 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02080 hp1 a0001 c0001 t0001 g0001 EAS KHV DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02080 hp2 a0001 c0001 t0001 g0010 EAS KHV DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02273 hp1 a0001 c0002 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02273 hp2 a0001 c0001 t0001 g0001 AMR PEL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02523 hp1 a0001 c0001 t0001 g0001 EAS KHV DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02523 hp2 a0001 c0001 t0001 g0001 EAS KHV DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02572 hp1 a0001 c0001 t0001 g0004 AFR GWD DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02572 hp2 a0001 c0002 t0002 g0003 AFR GWD DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02630 hp1 a0001 c0001 t0001 g0001 AFR GWD DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02630 hp2 a0001 c0003 t0002 g0006 AFR GWD DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02683 hp1 a0001 c0001 t0001 g0001 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02683 hp2 a0001 c0004 t0001 g0009 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02698 hp1 a0001 c0001 t0001 g0001 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02698 hp2 a0001 c0001 t0001 g0001 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02723 hp1 a0001 c0003 t0002 g0006 AFR GWD DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02723 hp2 a0001 c0001 t0001 g0004 AFR GWD DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02976 hp1 a0001 c0001 t0001 g0001 AFR ESN DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02976 hp2 a0001 c0001 t0001 g0001 AFR ESN DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03017 hp1 a0001 c0001 t0001 g0002 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03017 hp2 a0001 c0001 t0001 g0001 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03139 hp1 a0001 c0001 t0001 g0001 AFR ESN DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03139 hp2 a0001 c0001 t0001 g0008 AFR ESN DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03491 hp1 a0001 c0001 t0001 g0001 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03491 hp2 a0001 c0001 t0001 g0002 SAS PJL DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03688 hp1 a0001 c0001 t0001 g0001 SAS STU DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03688 hp2 a0001 c0001 t0001 g0001 SAS STU DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03942 hp1 a0001 c0001 t0001 g0001 SAS BEB DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG03942 hp2 a0001 c0001 t0001 g0001 SAS BEB DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG04199 hp1 a0001 c0001 t0001 g0002 SAS STU DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG04199 hp2 a0001 c0001 t0001 g0001 SAS STU DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG04228 hp1 a0001 c0001 t0001 g0001 SAS STU DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG04228 hp2 a0001 c0001 t0001 g0002 SAS STU DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18906 hp1 a0001 c0001 t0001 g0004 AFR YRI DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18906 hp2 a0001 c0001 t0001 g0001 AFR YRI DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18960 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18960 hp2 a0001 c0002 t0001 g0005 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18963 hp1 a0001 c0002 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18963 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18964 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18964 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18968 hp1 a0001 c0002 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18968 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18979 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA18979 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19003 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19003 hp2 a0001 c0002 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19065 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19065 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19070 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19070 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19084 hp1 a0001 c0002 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19084 hp2 a0001 c0002 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19089 hp1 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19089 hp2 a0001 c0001 t0001 g0001 EAS JPT DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19240 hp1 a0001 c0002 t0002 g0003 AFR YRI DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA19240 hp2 a0001 c0001 t0001 g0001 AFR YRI DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02486 hp1 a0001 c0001 t0001 g0001 AFR ACB DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
HG02486 hp2 a0001 c0001 t0001 g0001 AFR ACB DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA20300 hp1 a0001 c0001 t0001 g0001 AFR USA DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716
NA20300 hp2 a0001 c0001 t0001 g0001 AFR USA DEFB4A_chr8_7889677_7901716 DEFB4A chr8 7889677 7901716

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
chr8:7896714 C
C
 G
G
 1 a0001
a0001
 6 HG00741.hp1
HG01891.hp1
HG02572.hp2
others(3): Show 
HG00741.hp1
HG01891.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp1
NA19240.hp1
 splice_region_variant LOW c.*104C>G
c.*104C>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 2/2 chr8 7896714

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
chr8:7894754 C
C
 T
T
 1 a0001c0004
a0001c0004
 1 HG02683.hp2
HG02683.hp2
 synonymous_variant LOW c.42C>T
c.42C>T
 p.Phe14Phe
p.Phe14Phe
 DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/2 78/337 42/195 14/64 chr8 7894754
chr8:7896499 T
T
 C
C
 2 a0001c0002
a0001c0003
a0001c0002
a0001c0003
 17 HG00741.hp1
HG01346.hp2
HG01891.hp1
others(14): Show 
HG00741.hp1
HG01346.hp2
HG01891.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG02273.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp1
NA18960.hp2
NA18963.hp1
NA18968.hp1
NA19003.hp2
NA19084.hp1
NA19084.hp2
NA19240.hp1
 synonymous_variant LOW c.84T>C
c.84T>C
 p.Pro28Pro
p.Pro28Pro
 DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 2/2 120/337 84/195 28/64 chr8 7896499
chr8:7896565 T
T
 C
C
 1 a0001c0003
a0001c0003
 2 HG02630.hp2
HG02723.hp1
HG02630.hp2
HG02723.hp1
 synonymous_variant LOW c.150T>C
c.150T>C
 p.Ile50Ile
p.Ile50Ile
 DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 2/2 186/337 150/195 50/64 chr8 7896565

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

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
chr8:7894956 C
C
 A
A
 1 a0001c0001t0001g0007
a0001c0001t0001g0007
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.58+186C>A
c.58+186C>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7894956
chr8:7895024 TTAGACTG
others(2): Show 
TTAGACTGAG
 T
T
 4 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0003t0002g0006
others(1): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0003t0002g0006
a0001c0004t0001g0009
 7 HG02572.hp1
HG02630.hp2
HG02683.hp2
others(4): Show 
HG02572.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG03139.hp2
NA18906.hp1
 intron_variant MODIFIER c.58+263_58+271delGT
others(7): Show 
c.58+263_58+271delGTAGACTGA
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 INFO_REALIGN_3_PRIME chr8 7895024
chr8:7895061 C
C
 A
A
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.58+291C>A
c.58+291C>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895061
chr8:7895110 A
A
 C
C
 7 a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0008
others(4): Show 
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0002t0001g0005
a0001c0002t0002g0003
a0001c0003t0002g0006
a0001c0004t0001g0009
 19 HG00558.hp1
HG00741.hp1
HG01346.hp2
others(16): Show 
HG00558.hp1
HG00741.hp1
HG01346.hp2
HG01891.hp1
HG01943.hp2
HG02572.hp1
HG02572.hp2
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG03017.hp1
HG03139.hp2
HG03491.hp2
HG04199.hp1
HG04228.hp2
NA18906.hp1
NA18960.hp2
NA19240.hp1
 intron_variant MODIFIER c.58+340A>C
c.58+340A>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895110
chr8:7895118 G
G
 A
A
 1 a0001c0001t0001g0010
a0001c0001t0001g0010
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.58+348G>A
c.58+348G>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895118
chr8:7895151 T
T
 C
C
 5 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0002t0001g0005
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0002t0001g0005
a0001c0003t0002g0006
a0001c0004t0001g0009
 10 HG01346.hp2
HG01943.hp2
HG02572.hp1
others(7): Show 
HG01346.hp2
HG01943.hp2
HG02572.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG03139.hp2
NA18906.hp1
NA18960.hp2
 intron_variant MODIFIER c.58+381T>C
c.58+381T>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895151
chr8:7895162 C
C
 T
T
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 5 HG00558.hp1
HG03017.hp1
HG03491.hp2
others(2): Show 
HG00558.hp1
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.58+392C>T
c.58+392C>T
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895162
chr8:7895190 C
C
 T
T
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 5 HG00558.hp1
HG03017.hp1
HG03491.hp2
others(2): Show 
HG00558.hp1
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.58+420C>T
c.58+420C>T
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895190
chr8:7895306 A
A
 G
G
 5 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0002t0001g0005
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0002t0001g0005
a0001c0003t0002g0006
a0001c0004t0001g0009
 10 HG01346.hp2
HG01943.hp2
HG02572.hp1
others(7): Show 
HG01346.hp2
HG01943.hp2
HG02572.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG03139.hp2
NA18906.hp1
NA18960.hp2
 intron_variant MODIFIER c.58+536A>G
c.58+536A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895306
chr8:7895367 C
C
 G
G
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 5 HG00558.hp1
HG03017.hp1
HG03491.hp2
others(2): Show 
HG00558.hp1
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.58+597C>G
c.58+597C>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895367
chr8:7895478 A
A
 T
T
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.58+708A>T
c.58+708A>T
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895478
chr8:7895588 G
G
 A
A
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 5 HG00558.hp1
HG03017.hp1
HG03491.hp2
others(2): Show 
HG00558.hp1
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.58+818G>A
c.58+818G>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895588
chr8:7895730 A
A
 G
G
 5 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0002t0001g0005
others(2): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0002t0001g0005
a0001c0003t0002g0006
a0001c0004t0001g0009
 10 HG01346.hp2
HG01943.hp2
HG02572.hp1
others(7): Show 
HG01346.hp2
HG01943.hp2
HG02572.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG03139.hp2
NA18906.hp1
NA18960.hp2
 intron_variant MODIFIER c.59-744A>G
c.59-744A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895730
chr8:7895781 G
G
 C
C
 1 a0001c0003t0002g0006
a0001c0003t0002g0006
 2 HG02630.hp2
HG02723.hp1
HG02630.hp2
HG02723.hp1
 intron_variant MODIFIER c.59-693G>C
c.59-693G>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895781
chr8:7895791 AGGCTGGT
others(6): Show 
AGGCTGGTGGGAGG
 A
A
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-680_59-668delCT
others(11): Show 
c.59-680_59-668delCTGGTGGGAGGGG
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 INFO_REALIGN_3_PRIME chr8 7895791
chr8:7895794 C
C
 G
G
 2 a0001c0001t0001g0002
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0004t0001g0009
 6 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(3): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-680C>G
c.59-680C>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895794
chr8:7895795 T
T
 A
A
 2 a0001c0001t0001g0002
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0004t0001g0009
 6 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(3): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-679T>A
c.59-679T>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895795
chr8:7895798 T
T
 C
C
 2 a0001c0001t0001g0002
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0004t0001g0009
 6 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(3): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-676T>C
c.59-676T>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895798
chr8:7895798 TGGGAG
TGGGAG
 T
T
 2 a0001c0002t0002g0003
a0001c0003t0002g0006
a0001c0002t0002g0003
a0001c0003t0002g0006
 6 HG00741.hp1
HG01891.hp1
HG02572.hp2
others(3): Show 
HG00741.hp1
HG01891.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp1
NA19240.hp1
 intron_variant MODIFIER c.59-672_59-668delAG
others(3): Show 
c.59-672_59-668delAGGGG
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 INFO_REALIGN_3_PRIME chr8 7895798
chr8:7895802 A
A
 C
C
 2 a0001c0001t0001g0002
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0004t0001g0009
 6 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(3): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-672A>C
c.59-672A>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895802
chr8:7895803 G
G
 A
A
 2 a0001c0001t0001g0002
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0004t0001g0009
 6 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(3): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-671G>A
c.59-671G>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895803
chr8:7895804 GGGGA
GGGGA
 G
G
 6 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(3): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0010
a0001c0002t0001g0001
a0001c0002t0001g0005
 81 HG00099.hp1
HG00099.hp2
HG00558.hp2
others(78): Show 
HG00099.hp1
HG00099.hp2
HG00558.hp2
HG00642.hp1
HG00642.hp2
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01243.hp1
HG01243.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01516.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01981.hp1
HG01981.hp2
HG02080.hp1
HG02080.hp2
HG02273.hp1
HG02273.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp1
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03139.hp1
HG03491.hp1
HG03688.hp1
HG03688.hp2
HG03942.hp1
HG03942.hp2
HG04199.hp2
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18960.hp1
NA18960.hp2
NA18963.hp1
NA18963.hp2
NA18964.hp1
NA18964.hp2
NA18968.hp1
NA18968.hp2
NA18979.hp1
NA18979.hp2
NA19003.hp1
NA19003.hp2
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
 intron_variant MODIFIER c.59-653_59-650delGG
others(2): Show 
c.59-653_59-650delGGGA
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 INFO_REALIGN_3_PRIME chr8 7895804
chr8:7895806 G
G
 T
T
 2 a0001c0001t0001g0002
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0004t0001g0009
 6 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(3): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-668G>T
c.59-668G>T
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895806
chr8:7895807 GA
GA
 G
G
 2 a0001c0001t0001g0002
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0004t0001g0009
 6 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(3): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-666delA
c.59-666delA
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895807
chr8:7895808 A
A
 G
G
 2 a0001c0002t0002g0003
a0001c0003t0002g0006
a0001c0002t0002g0003
a0001c0003t0002g0006
 6 HG00741.hp1
HG01891.hp1
HG02572.hp2
others(3): Show 
HG00741.hp1
HG01891.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp1
NA19240.hp1
 intron_variant MODIFIER c.59-666A>G
c.59-666A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895808
chr8:7895811 G
G
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-663G>C
c.59-663G>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895811
chr8:7895819 G
G
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-655G>C
c.59-655G>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895819
chr8:7895820 A
A
 G
G
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-654A>G
c.59-654A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895820
chr8:7895823 G
G
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-651G>C
c.59-651G>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895823
chr8:7895825 A
A
 G
G
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-649A>G
c.59-649A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895825
chr8:7895827 G
G
 T
T
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-647G>T
c.59-647G>T
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895827
chr8:7895828 A
A
 G
G
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-646A>G
c.59-646A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895828
chr8:7895829 GGGAAGGA
others(25): Show 
GGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAA
 G
G
 1 a0001c0001t0001g0002
a0001c0001t0001g0002
 5 HG00558.hp1
HG03017.hp1
HG03491.hp2
others(2): Show 
HG00558.hp1
HG03017.hp1
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-641_59-610delAG
others(30): Show 
c.59-641_59-610delAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGA
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 INFO_REALIGN_3_PRIME chr8 7895829
chr8:7895833 A
A
 G
G
 2 a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0001t0001g0008
a0001c0004t0001g0009
 2 HG02683.hp2
HG03139.hp2
HG02683.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-641A>G
c.59-641A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895833
chr8:7895841 G
G
 C
C
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-633G>C
c.59-633G>C
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895841
chr8:7895845 G
G
 A
A
 3 a0001c0001t0001g0008
a0001c0002t0002g0003
a0001c0003t0002g0006
a0001c0001t0001g0008
a0001c0002t0002g0003
a0001c0003t0002g0006
 7 HG00741.hp1
HG01891.hp1
HG02572.hp2
others(4): Show 
HG00741.hp1
HG01891.hp1
HG02572.hp2
HG02630.hp2
HG02723.hp1
HG03139.hp2
NA19240.hp1
 intron_variant MODIFIER c.59-629G>A
c.59-629G>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895845
chr8:7895845 GGGAGGGA
others(9): Show 
GGGAGGGAAGGAGGGAA
 G
G
 1 a0001c0004t0001g0009
a0001c0004t0001g0009
 1 HG02683.hp2
HG02683.hp2
 intron_variant MODIFIER c.59-621_59-606delAG
others(14): Show 
c.59-621_59-606delAGGAGGGAAGGAGGGA
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 INFO_REALIGN_3_PRIME chr8 7895845
chr8:7895853 A
A
 G
G
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-621A>G
c.59-621A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895853
chr8:7895861 A
A
 G
G
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-613A>G
c.59-613A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895861
chr8:7895861 AGGAG
AGGAG
 A
A
 1 a0001c0002t0002g0003
a0001c0002t0002g0003
 4 HG00741.hp1
HG01891.hp1
HG02572.hp2
others(1): Show 
HG00741.hp1
HG01891.hp1
HG02572.hp2
NA19240.hp1
 intron_variant MODIFIER c.59-597_59-594delGG
others(2): Show 
c.59-597_59-594delGGGA
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 INFO_REALIGN_3_PRIME chr8 7895861
chr8:7895881 A
A
 T
T
 5 a0001c0001t0001g0002
a0001c0001t0001g0008
a0001c0002t0002g0003
others(2): Show 
a0001c0001t0001g0002
a0001c0001t0001g0008
a0001c0002t0002g0003
a0001c0003t0002g0006
a0001c0004t0001g0009
 13 HG00558.hp1
HG00741.hp1
HG01891.hp1
others(10): Show 
HG00558.hp1
HG00741.hp1
HG01891.hp1
HG02572.hp2
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG03017.hp1
HG03139.hp2
HG03491.hp2
HG04199.hp1
HG04228.hp2
NA19240.hp1
 intron_variant MODIFIER c.59-593A>T
c.59-593A>T
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895881
chr8:7895883 C
C
 A
A
 3 a0001c0001t0001g0002
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0001t0001g0008
a0001c0004t0001g0009
 7 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(4): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03139.hp2
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-591C>A
c.59-591C>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895883
chr8:7895884 A
A
 G
G
 1 a0001c0003t0002g0006
a0001c0003t0002g0006
 2 HG02630.hp2
HG02723.hp1
HG02630.hp2
HG02723.hp1
 intron_variant MODIFIER c.59-590A>G
c.59-590A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7895884
chr8:7896043 A
A
 G
G
 1 a0001c0001t0001g0008
a0001c0001t0001g0008
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.59-431A>G
c.59-431A>G
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7896043
chr8:7896181 G
G
 A
A
 3 a0001c0001t0001g0002
a0001c0001t0001g0008
a0001c0004t0001g0009
a0001c0001t0001g0002
a0001c0001t0001g0008
a0001c0004t0001g0009
 7 HG00558.hp1
HG02683.hp2
HG03017.hp1
others(4): Show 
HG00558.hp1
HG02683.hp2
HG03017.hp1
HG03139.hp2
HG03491.hp2
HG04199.hp1
HG04228.hp2
 intron_variant MODIFIER c.59-293G>A
c.59-293G>A
DEFB4A ENSG00000171711.3 transcript ENST00000302247.3 protein_coding 1/1 chr8 7896181

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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