geneid | 414325 |
---|---|
ensemblid | ENSG00000176797.4 |
hgncid | 15967 |
symbol | DEFB103A |
name | defensin beta 103A |
refseq_nuc | NM_001081551.4 |
refseq_prot | NP_001075020.1 |
ensembl_nuc | ENST00000314357.4 |
ensembl_prot | ENSP00000320951.3 |
mane_status | MANE Select |
chr | chr8 |
start | 7881392 |
end | 7882663 |
strand | + |
ver | v1.2 |
region | chr8:7881392-7882663 |
region5000 | chr8:7876392-7887663 |
regionname0 | DEFB103A_chr8_7881392_7882663 |
regionname5000 | DEFB103A_chr8_7876392_7887663 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 67 | 168 | 27 | 28 | 90 | 8 | 15 | 58 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
a0002 | 0/0 | 67 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
a0003 | 0/0 | 67 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 204 | 168 | 27 | 28 | 90 | 8 | 15 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
c0002 | 0/0 | 204 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
c0003 | 0/0 | 204 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 0/0 | 126 | 170 | 28 | 28 | 90 | 8 | 16 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 0/0 | 76 | 12 | 14 | 38 | 5 | 7 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0002 | 0/0 | 48 | 10 | 3 | 30 | 2 | 3 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0003 | 0/0 | 18 | 1 | 4 | 11 | 1 | 1 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0004 | 0/0 | 5 | 0 | 0 | 0 | 0 | 5 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0005 | 0/0 | 4 | 0 | 2 | 2 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0006 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0007 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0009 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 204 | 168 | 27 | 28 | 90 | 8 | 15 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
a0002c0002 | 0/0 | 204 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
a0003c0003 | 0/0 | 204 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 329 | 168 | 27 | 28 | 90 | 8 | 15 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
a0002c0002t0001 | 0/0 | 329 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
a0003c0003t0001 | 0/0 | 329 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | copy fasta | chr8 | 7876392 | 7887663 |
actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 76 | 12 | 14 | 38 | 5 | 7 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0002 | 0/0 | 48 | 10 | 3 | 30 | 2 | 3 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0003 | 0/0 | 18 | 1 | 4 | 11 | 1 | 1 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0004 | 0/0 | 4 | 0 | 0 | 0 | 0 | 4 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0005 | 0/0 | 4 | 0 | 2 | 2 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0006 | 0/0 | 3 | 1 | 0 | 2 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0007 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0009 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0002c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
a0003c0003t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00323 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | FIN | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00438 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0009 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00639 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00642 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00642 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00733 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00735 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01192 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01192 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01243 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | CLM | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01256 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01361 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01361 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01516 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01517 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | IBS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | IBS | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01934 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01934 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG01943 | hp2 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02015 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02027 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02027 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02040 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02040 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02071 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02071 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02129 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02129 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02132 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02132 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02155 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CDX | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | CDX | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CDX | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CDX | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02258 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02293 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PEL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02523 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02523 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02602 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02630 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02683 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02717 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02809 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02809 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02886 | hp2 | a0003 | c0003 | t0001 | g0013 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02895 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ESN | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02965 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03225 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | MSL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03225 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03491 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03491 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03540 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03540 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | GWD | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03579 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03579 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | MSL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | STU | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03688 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03710 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | BEB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG04199 | hp2 | a0002 | c0002 | t0001 | g0004 | SAS | STU | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18943 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18945 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18950 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18951 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18954 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18954 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18960 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18960 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18961 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18963 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18964 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18964 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18966 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18971 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18971 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18974 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18974 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18975 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18975 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18980 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18980 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18981 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18981 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18982 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18982 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18984 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18984 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18990 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18992 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18992 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA18994 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19064 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19064 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19072 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19072 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19077 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19078 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19078 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19079 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19080 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19080 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19084 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19084 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19085 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA19085 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA20805 | hp1 | a0001 | c0001 | t0001 | g0002 | EUR | TSI | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
NA20805 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG02559 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | USA | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
HG06807 | hp2 | a0001 | c0001 | t0001 | g0002 | AFR | USA | DEFB103A_chr8_7876392_7887663 | DEFB103A | chr8 | 7876392 | 7887663 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7882454
|
A | T | 1 | a0003 | 1 | HG02886.hp2 | missense_variant | MODERATE | c.90A>T | p.Lys30Asn | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 2/2 | 120/329 | 90/204 | 30/67 | chr8 | 7882454 | ||
chr8:7882565
|
A | C | 1 | a0002 | 1 | HG04199.hp2 | missense_variant | MODERATE | c.201A>C | p.Lys67Asn | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 2/2 | 231/329 | 201/204 | 67/67 | chr8 | 7882565 |
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 |
---|
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7881636
|
C | T | 1 | a0001c0001t0001g0016 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.58+157C>T | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881636 | ||||||
chr8:7881690
|
C | T | 1 | a0001c0001t0001g0015 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.58+211C>T | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881690 | ||||||
chr8:7881697
|
C | G | 6 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(3): Show | 75 | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(72): Show |
intron_variant | MODIFIER | c.58+218C>G | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881697 | ||||||
chr8:7881702
|
T | C | 1 | a0001c0001t0001g0011 | 2 | NA18966.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.58+223T>C | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881702 | ||||||
chr8:7881708
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.58+229G>A | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881708 | ||||||
chr8:7881767
|
A | G | 2 | a0001c0001t0001g0003a0001c0001t0001g0007 | 21 | HG00323.hp1 HG00609.hp1 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.58+288A>G | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881767 | ||||||
chr8:7881908
|
A | G | 12 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(9): Show | 86 | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(83): Show |
intron_variant | MODIFIER | c.58+429A>G | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881908 | ||||||
chr8:7881912
|
C | CA | 2 | a0001c0001t0001g0006a0001c0001t0001g0009 | 5 | HG00558.hp2 HG01256.hp1 HG02155.hp2 others(2): Show |
intron_variant | MODIFIER | c.58+448dupA | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | 7881912 | |||||
chr8:7881912
|
C | CAA | 2 | a0001c0001t0001g0004a0002c0002t0001g0004 | 5 | HG02602.hp2 HG02683.hp2 HG03491.hp2 others(2): Show |
intron_variant | MODIFIER | c.58+447_58+448dupAA | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | 7881912 | |||||
chr8:7881912
|
CAA | C | 2 | a0001c0001t0001g0003a0001c0001t0001g0014 | 19 | HG00323.hp1 HG00609.hp1 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.58+447_58+448delAA | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | 7881912 | |||||
chr8:7881918
|
A | T | 2 | a0001c0001t0001g0003a0001c0001t0001g0014 | 19 | HG00323.hp1 HG00609.hp1 HG00639.hp2 others(16): Show |
intron_variant | MODIFIER | c.58+439A>T | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7881918 | ||||||
chr8:7882035
|
G | T | 1 | a0003c0003t0001g0013 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.59-388G>T | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7882035 | ||||||
chr8:7882143
|
C | T | 1 | a0001c0001t0001g0012 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.59-280C>T | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7882143 | ||||||
chr8:7882199
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C | A | 1 | a0001c0001t0001g0008 | 2 | HG00735.hp1 HG01243.hp2 |
intron_variant | MODIFIER | c.59-224C>A | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7882199 | ||||||
chr8:7882261
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A | C | 2 | a0001c0001t0001g0005a0001c0001t0001g0016 | 5 | HG01943.hp2 HG02273.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.59-162A>C | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7882261 | ||||||
chr8:7882333
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G | A | 12 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(9): Show | 86 | HG00323.hp1 HG00438.hp2 HG00544.hp2 others(83): Show |
intron_variant | MODIFIER | c.59-90G>A | DEFB103A | ENSG00000176797.4 | transcript | ENST00000314357.4 | protein_coding | 1/1 | chr8 | 7882333 |