| geneid | 245908 |
|---|---|
| ensemblid | ENSG00000186562.8 |
| hgncid | 18087 |
| symbol | DEFB105A |
| name | defensin beta 105A |
| refseq_nuc | NM_152250.3 |
| refseq_prot | NP_689463.1 |
| ensembl_nuc | ENST00000334773.7 |
| ensembl_prot | ENSP00000334330.6 |
| mane_status | MANE Select |
| chr | chr8 |
| start | 7821004 |
| end | 7823880 |
| strand | - |
| ver | v1.2 |
| region | chr8:7821004-7823880 |
| region5000 | chr8:7816004-7828880 |
| regionname0 | DEFB105A_chr8_7821004_7823880 |
| regionname5000 | DEFB105A_chr8_7816004_7828880 |
| 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 | 78 | 122 | 23 | 23 | 61 | 5 | 10 | 46 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0002 | 0/0 | 78 | 13 | 1 | 2 | 9 | 1 | 0 | 8 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0003 | 0/0 | 78 | 7 | 0 | 1 | 6 | 0 | 0 | 4 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0004 | 0/0 | 78 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0005 | 0/0 | 78 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0006 | 0/0 | 78 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| 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 | 237 | 122 | 23 | 23 | 61 | 5 | 10 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| c0002 | 0/0 | 237 | 13 | 1 | 2 | 9 | 1 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| c0003 | 0/0 | 237 | 7 | 0 | 1 | 6 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| c0004 | 0/0 | 237 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| c0005 | 0/0 | 237 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| c0006 | 0/0 | 237 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| 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 | 1045 | 60 | 5 | 11 | 38 | 2 | 4 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0002 | 0/0 | 1047 | 29 | 4 | 6 | 14 | 3 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0003 | 0/0 | 1047 | 8 | 1 | 2 | 4 | 1 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0004 | 0/0 | 1046 | 7 | 0 | 1 | 6 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0005 | 0/0 | 1047 | 6 | 3 | 1 | 1 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0006 | 0/0 | 1047 | 5 | 0 | 3 | 0 | 0 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0007 | 0/0 | 1045 | 4 | 0 | 0 | 4 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0008 | 0/0 | 1045 | 4 | 1 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0009 | 0/0 | 1047 | 3 | 0 | 3 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0010 | 0/0 | 1047 | 3 | 0 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0011 | 0/0 | 1046 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0012 | 0/0 | 1045 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0013 | 0/0 | 1047 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0014 | 0/0 | 1047 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0015 | 0/0 | 1046 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0016 | 0/0 | 1046 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0017 | 0/0 | 1047 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0018 | 0/0 | 1047 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0019 | 0/0 | 1047 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0020 | 0/0 | 1045 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0021 | 0/0 | 1046 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0022 | 0/0 | 1047 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0023 | 0/0 | 1047 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| t0024 | 0/0 | 1047 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| 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 | 32 | 3 | 5 | 21 | 0 | 3 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0002 | 0/0 | 22 | 0 | 5 | 12 | 3 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0003 | 0/0 | 21 | 1 | 3 | 14 | 2 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0004 | 0/0 | 7 | 1 | 2 | 3 | 1 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0005 | 0/0 | 6 | 0 | 1 | 5 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0006 | 0/0 | 5 | 0 | 3 | 0 | 0 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0007 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0008 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0009 | 0/0 | 4 | 1 | 1 | 1 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0010 | 0/0 | 4 | 1 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0011 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0012 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0013 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0015 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| 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 | 237 | 122 | 23 | 23 | 61 | 5 | 10 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0002c0002 | 0/0 | 237 | 13 | 1 | 2 | 9 | 1 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0003c0003 | 0/0 | 237 | 7 | 0 | 1 | 6 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0004c0004 | 0/0 | 237 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0005c0006 | 0/0 | 237 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0006c0005 | 0/0 | 237 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1281 | 58 | 5 | 9 | 38 | 2 | 4 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0002 | 0/0 | 1283 | 29 | 4 | 6 | 14 | 3 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0005 | 0/0 | 1283 | 6 | 3 | 1 | 1 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0006 | 0/0 | 1283 | 5 | 0 | 3 | 0 | 0 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0008 | 0/0 | 1281 | 4 | 1 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0009 | 0/0 | 1283 | 3 | 0 | 3 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0010 | 0/0 | 1283 | 3 | 0 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0011 | 0/0 | 1282 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0013 | 0/0 | 1283 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0014 | 0/0 | 1283 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0016 | 0/0 | 1282 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0017 | 0/0 | 1283 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0018 | 0/0 | 1283 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0019 | 0/0 | 1283 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0020 | 0/0 | 1281 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0021 | 0/0 | 1282 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0022 | 0/0 | 1283 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0023 | 0/0 | 1283 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0001c0001t0024 | 0/0 | 1283 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0002c0002t0003 | 0/0 | 1283 | 8 | 1 | 2 | 4 | 1 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0002c0002t0007 | 0/0 | 1281 | 4 | 0 | 0 | 4 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0002c0002t0015 | 0/0 | 1282 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0003c0003t0004 | 0/0 | 1282 | 7 | 0 | 1 | 6 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0004c0004t0012 | 0/0 | 1281 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0005c0006t0001 | 0/0 | 1281 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| a0006c0005t0001 | 0/0 | 1281 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | copy fasta | chr8 | 7816004 | 7828880 |
| 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 | 32 | 3 | 5 | 21 | 0 | 3 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0001g0003 | 0/0 | 21 | 1 | 3 | 14 | 2 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0001g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0002g0002 | 0/0 | 22 | 0 | 5 | 12 | 3 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0002g0008 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0002g0012 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0005g0009 | 0/0 | 4 | 1 | 1 | 1 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0005g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0006g0006 | 0/0 | 5 | 0 | 3 | 0 | 0 | 2 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0008g0010 | 0/0 | 4 | 1 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0009g0013 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0010g0011 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0011g0015 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0013g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0013g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0014g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0016g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0017g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0018g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0019g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0020g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0021g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0022g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0023g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0001c0001t0024g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0002c0002t0003g0004 | 0/0 | 7 | 1 | 2 | 3 | 1 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0002c0002t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0002c0002t0007g0007 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0002c0002t0015g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0003c0003t0004g0005 | 0/0 | 6 | 0 | 1 | 5 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0003c0003t0004g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0004c0004t0012g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0005c0006t0001g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| a0006c0005t0001g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | GBR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00140 | hp2 | a0001 | c0001 | t0002 | g0002 | EUR | GBR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0003 | EUR | FIN | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00280 | hp2 | a0001 | c0001 | t0002 | g0002 | EUR | FIN | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00423 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | CHS | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00544 | hp1 | a0001 | c0001 | t0010 | g0011 | EAS | CHS | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00609 | hp2 | a0003 | c0003 | t0004 | g0005 | EAS | CHS | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG00738 | hp2 | a0001 | c0001 | t0006 | g0006 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01074 | hp1 | a0006 | c0005 | t0001 | g0030 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01167 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01169 | hp2 | a0001 | c0001 | t0006 | g0006 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01243 | hp1 | a0001 | c0001 | t0014 | g0020 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01243 | hp2 | a0001 | c0001 | t0005 | g0009 | AMR | PUR | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01255 | hp2 | a0003 | c0003 | t0004 | g0005 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01256 | hp1 | a0002 | c0002 | t0003 | g0004 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01256 | hp2 | a0001 | c0001 | t0009 | g0013 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01261 | hp1 | a0001 | c0001 | t0006 | g0006 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01261 | hp2 | a0005 | c0006 | t0001 | g0037 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01358 | hp1 | a0001 | c0001 | t0009 | g0013 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01952 | hp2 | a0002 | c0002 | t0003 | g0004 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0032 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG01993 | hp2 | a0001 | c0001 | t0009 | g0013 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02015 | hp1 | a0002 | c0002 | t0007 | g0007 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02015 | hp2 | a0003 | c0003 | t0004 | g0005 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02040 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02055 | hp2 | a0001 | c0001 | t0005 | g0014 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02155 | hp1 | a0001 | c0001 | t0008 | g0010 | EAS | CDX | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | CDX | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0033 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02258 | hp2 | a0002 | c0002 | t0003 | g0004 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02273 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02273 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02451 | hp1 | a0001 | c0001 | t0013 | g0035 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02451 | hp2 | a0001 | c0001 | t0011 | g0015 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | KHV | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02622 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | GWD | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02622 | hp2 | a0001 | c0001 | t0011 | g0015 | AFR | GWD | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02683 | hp1 | a0001 | c0001 | t0022 | g0034 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02683 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02895 | hp1 | a0001 | c0001 | t0005 | g0009 | AFR | GWD | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | GWD | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02896 | hp1 | a0004 | c0004 | t0012 | g0016 | AFR | GWD | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02896 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03490 | hp2 | a0001 | c0001 | t0005 | g0009 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03492 | hp1 | a0001 | c0001 | t0006 | g0006 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03516 | hp1 | a0001 | c0001 | t0023 | g0027 | AFR | ESN | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03516 | hp2 | a0001 | c0001 | t0020 | g0025 | AFR | ESN | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03710 | hp2 | a0001 | c0001 | t0006 | g0006 | SAS | PJL | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | BEB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG03942 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18522 | hp1 | a0001 | c0001 | t0008 | g0010 | AFR | YRI | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18522 | hp2 | a0001 | c0001 | t0013 | g0036 | AFR | YRI | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18747 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | CHB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18944 | hp1 | a0002 | c0002 | t0007 | g0007 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18944 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0012 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18956 | hp1 | a0001 | c0001 | t0010 | g0011 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18966 | hp1 | a0002 | c0002 | t0015 | g0018 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18966 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18981 | hp1 | a0001 | c0001 | t0017 | g0024 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18984 | hp1 | a0001 | c0001 | t0016 | g0021 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18984 | hp2 | a0001 | c0001 | t0008 | g0010 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18986 | hp2 | a0003 | c0003 | t0004 | g0005 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18991 | hp1 | a0001 | c0001 | t0010 | g0011 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18992 | hp1 | a0003 | c0003 | t0004 | g0005 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18992 | hp2 | a0002 | c0002 | t0003 | g0004 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18999 | hp1 | a0001 | c0001 | t0008 | g0010 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA18999 | hp2 | a0003 | c0003 | t0004 | g0019 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19000 | hp1 | a0003 | c0003 | t0004 | g0005 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19003 | hp2 | a0002 | c0002 | t0003 | g0004 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19005 | hp2 | a0002 | c0002 | t0007 | g0007 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19012 | hp1 | a0001 | c0001 | t0005 | g0009 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19058 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19064 | hp2 | a0002 | c0002 | t0003 | g0017 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19067 | hp2 | a0002 | c0002 | t0007 | g0007 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19090 | hp1 | a0001 | c0001 | t0002 | g0012 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19090 | hp2 | a0002 | c0002 | t0003 | g0004 | EAS | JPT | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19240 | hp1 | a0001 | c0001 | t0018 | g0022 | AFR | YRI | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA19240 | hp2 | a0001 | c0001 | t0005 | g0014 | AFR | YRI | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | TSI | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| NA20805 | hp2 | a0002 | c0002 | t0003 | g0004 | EUR | TSI | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02109 | hp1 | a0001 | c0001 | t0024 | g0038 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02109 | hp2 | a0001 | c0001 | t0021 | g0026 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02559 | hp1 | a0001 | c0001 | t0019 | g0023 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | USA | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| HG06807 | hp2 | a0004 | c0004 | t0012 | g0016 | AFR | USA | DEFB105A_chr8_7816004_7828880 | DEFB105A | chr8 | 7816004 | 7828880 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:7822011
|
G | C | 1 | a0006 | 1 | HG01074.hp1 | missense_variant | MODERATE | c.234C>G | p.Ile78Met | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 276/1283 | 234/237 | 78/78 | chr8 | 7822011 | ||
| chr8:7822027
|
C | T | 1 | a0003 | 7 | HG00609.hp2 HG01255.hp2 HG02015.hp2 others(4): Show |
missense_variant | MODERATE | c.218G>A | p.Cys73Tyr | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 260/1283 | 218/237 | 73/78 | chr8 | 7822027 | ||
| chr8:7823387
|
G | A | 1 | a0004 | 2 | HG02896.hp1 HG06807.hp2 |
missense_variant | MODERATE | c.107C>T | p.Pro36Leu | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/3 | 149/1283 | 107/237 | 36/78 | chr8 | 7823387 | ||
| chr8:7823779
|
T | A | 1 | a0005 | 1 | HG01261.hp2 | missense_variant | MODERATE | c.60A>T | p.Gln20His | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/3 | 102/1283 | 60/237 | 20/78 | chr8 | 7823779 | ||
| chr8:7823828
|
A | T | 1 | a0002 | 13 | HG01256.hp1 HG01952.hp2 HG02015.hp1 others(10): Show |
missense_variant | MODERATE | c.11T>A | p.Ile4Asn | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/3 | 53/1283 | 11/237 | 4/78 | chr8 | 7823828 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:7821080
|
A | G | 5 | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(2): Show | 35 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(32): Show |
3_prime_UTR_variant | MODIFIER | c.*928T>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 928 | chr8 | 7821080 | |||||
| chr8:7821089
|
T | C | 23 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | 138 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(135): Show |
3_prime_UTR_variant | MODIFIER | c.*919A>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 919 | chr8 | 7821089 | |||||
| chr8:7821294
|
T | C | 10 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(7): Show | 75 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(72): Show |
3_prime_UTR_variant | MODIFIER | c.*714A>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 714 | chr8 | 7821294 | |||||
| chr8:7821325
|
G | C | 10 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(7): Show | 75 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(72): Show |
3_prime_UTR_variant | MODIFIER | c.*683C>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 683 | chr8 | 7821325 | |||||
| chr8:7821375
|
G | A | 12 | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(9): Show | 84 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(81): Show |
3_prime_UTR_variant | MODIFIER | c.*633C>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 633 | chr8 | 7821375 | |||||
| chr8:7821467
|
C | A | 1 | a0003c0003t0004 | 7 | HG00609.hp2 HG01255.hp2 HG02015.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*541G>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 541 | chr8 | 7821467 | |||||
| chr8:7821494
|
T | C | 9 | a0001c0001t0002a0001c0001t0010a0001c0001t0014others(6): Show | 46 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*514A>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 514 | chr8 | 7821494 | |||||
| chr8:7821565
|
A | C | 1 | a0001c0001t0022 | 1 | HG02683.hp1 | 3_prime_UTR_variant | MODIFIER | c.*443T>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 443 | chr8 | 7821565 | |||||
| chr8:7821646
|
C | G | 1 | a0002c0002t0003 | 8 | HG01256.hp1 HG01952.hp2 HG02258.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*362G>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 362 | chr8 | 7821646 | |||||
| chr8:7821686
|
G | A | 10 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(7): Show | 75 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(72): Show |
3_prime_UTR_variant | MODIFIER | c.*322C>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 322 | chr8 | 7821686 | |||||
| chr8:7821703
|
C | A | 1 | a0001c0001t0017 | 1 | NA18981.hp1 | 3_prime_UTR_variant | MODIFIER | c.*305G>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 305 | chr8 | 7821703 | |||||
| chr8:7821744
|
C | T | 1 | a0001c0001t0020 | 1 | HG03516.hp2 | 3_prime_UTR_variant | MODIFIER | c.*264G>A | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 264 | chr8 | 7821744 | |||||
| chr8:7821799
|
G | A | 1 | a0001c0001t0009 | 3 | HG01256.hp2 HG01358.hp1 HG01993.hp2 |
3_prime_UTR_variant | MODIFIER | c.*209C>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 209 | chr8 | 7821799 | |||||
| chr8:7821802
|
A | G | 7 | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(4): Show | 70 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(67): Show |
3_prime_UTR_variant | MODIFIER | c.*206T>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 206 | chr8 | 7821802 | |||||
| chr8:7821804
|
A | G | 3 | a0001c0001t0013a0001c0001t0022a0004c0004t0012 | 5 | HG02451.hp1 HG02683.hp1 HG02896.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*204T>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 204 | chr8 | 7821804 | |||||
| chr8:7821812
|
T | A | 1 | a0001c0001t0008 | 4 | HG02155.hp1 NA18522.hp1 NA18984.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*196A>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 196 | chr8 | 7821812 | |||||
| chr8:7821813
|
C | T | 1 | a0001c0001t0008 | 4 | HG02155.hp1 NA18522.hp1 NA18984.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*195G>A | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 195 | chr8 | 7821813 | |||||
| chr8:7821819
|
CA | C | 5 | a0001c0001t0011a0001c0001t0016a0001c0001t0021others(2): Show | 12 | HG00609.hp2 HG01255.hp2 HG02015.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*188delT | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 188 | chr8 | 7821819 | |||||
| chr8:7821819
|
CAA | C | 7 | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(4): Show | 71 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(68): Show |
3_prime_UTR_variant | MODIFIER | c.*187_*188delTT | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 187 | chr8 | 7821819 | |||||
| chr8:7821836
|
A | T | 1 | a0001c0001t0014 | 1 | HG01243.hp1 | 3_prime_UTR_variant | MODIFIER | c.*172T>A | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 172 | chr8 | 7821836 | |||||
| chr8:7821871
|
G | A | 1 | a0001c0001t0018 | 1 | NA19240.hp1 | 3_prime_UTR_variant | MODIFIER | c.*137C>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 137 | chr8 | 7821871 | |||||
| chr8:7821927
|
G | C | 3 | a0001c0001t0010a0001c0001t0019a0002c0002t0003 | 12 | HG00544.hp1 HG01256.hp1 HG01952.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*81C>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 3/3 | 81 | chr8 | 7821927 | |||||
| chr8:7823858
|
G | A | 10 | a0001c0001t0001a0001c0001t0008a0001c0001t0013others(7): Show | 72 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(69): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-20C>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/3 | chr8 | 7823858 | ||||||
| chr8:7823864
|
G | C | 1 | a0001c0001t0024 | 1 | HG02109.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-26C>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/3 | chr8 | 7823864 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:7822176
|
C | G | 1 | a0003c0003t0004g0019 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.113-44G>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822176 | ||||||
| chr8:7822239
|
A | G | 1 | a0001c0001t0001g0029 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.113-107T>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822239 | ||||||
| chr8:7822252
|
A | C | 1 | a0001c0001t0001g0028 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.113-120T>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822252 | ||||||
| chr8:7822537
|
C | T | 4 | a0001c0001t0013g0035a0001c0001t0013g0036a0001c0001t0022g0034others(1): Show | 5 | HG02451.hp1 HG02683.hp1 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.113-405G>A | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822537 | ||||||
| chr8:7822538
|
G | A | 5 | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0014g0020others(2): Show | 29 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(26): Show |
intron_variant | MODIFIER | c.113-406C>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822538 | ||||||
| chr8:7822539
|
G | T | 1 | a0001c0001t0019g0023 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.113-407C>A | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822539 | ||||||
| chr8:7822597
|
AT | A | 32 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0028others(29): Show | 130 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
intron_variant | MODIFIER | c.113-466delA | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822597 | ||||||
| chr8:7822599
|
T | C | 2 | a0003c0003t0004g0005a0003c0003t0004g0019 | 7 | HG00609.hp2 HG01255.hp2 HG02015.hp2 others(4): Show |
intron_variant | MODIFIER | c.113-467A>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822599 | ||||||
| chr8:7822608
|
CAGTTT | C | 6 | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0014g0020others(3): Show | 30 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(27): Show |
intron_variant | MODIFIER | c.113-481_113-477del others(5): Show |
DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822608 | ||||||
| chr8:7822751
|
C | T | 1 | a0001c0001t0018g0022 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.113-619G>A | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822751 | ||||||
| chr8:7822984
|
A | G | 3 | a0001c0001t0001g0003a0001c0001t0001g0028a0001c0001t0001g0031 | 23 | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(20): Show |
intron_variant | MODIFIER | c.112+398T>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7822984 | ||||||
| chr8:7823156
|
A | G | 3 | a0001c0001t0020g0025a0001c0001t0021g0026a0001c0001t0023g0027 | 3 | HG02109.hp2 HG03516.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.112+226T>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7823156 | ||||||
| chr8:7823195
|
C | A | 1 | a0001c0001t0013g0036 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.112+187G>T | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7823195 | ||||||
| chr8:7823239
|
A | T | 1 | a0001c0001t0005g0014 | 2 | HG02055.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.112+143T>A | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 2/2 | chr8 | 7823239 | ||||||
| chr8:7823511
|
T | C | 1 | a0001c0001t0002g0008 | 4 | HG01884.hp2 HG02055.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.71-88A>G | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/2 | chr8 | 7823511 | ||||||
| chr8:7823519
|
C | G | 1 | a0001c0001t0010g0011 | 3 | HG00544.hp1 NA18956.hp1 NA18991.hp1 |
intron_variant | MODIFIER | c.71-96G>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/2 | chr8 | 7823519 | ||||||
| chr8:7823601
|
CA | C | 14 | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0002g0002others(11): Show | 59 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(56): Show |
intron_variant | MODIFIER | c.70+167delT | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/2 | chr8 | 7823601 | ||||||
| chr8:7823601
|
CAA | C | 9 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0028others(6): Show | 60 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(57): Show |
intron_variant | MODIFIER | c.70+166_70+167delTT | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/2 | chr8 | 7823601 | ||||||
| chr8:7823742
|
A | G | 11 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0028others(8): Show | 62 | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(59): Show |
intron_variant | MODIFIER | c.70+27T>C | DEFB105A | ENSG00000186562.8 | transcript | ENST00000334773.7 | protein_coding | 1/2 | chr8 | 7823742 |