Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 285596 |
|---|---|
| ensemblid | ENSG00000170074.21 |
| hgncid | 29940 |
| symbol | FAM153A |
| name | family with sequence similarity 153 member A |
| refseq_nuc | NM_001413826.1 |
| refseq_prot | NP_001400755.1 |
| ensembl_nuc | ENST00000697116.2 |
| ensembl_prot | ENSP00000513119.1 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 177723364 |
| end | 177782899 |
| strand | - |
| ver | v1.2 |
| region | chr5:177723364-177782899 |
| region5000 | chr5:177718364-177787899 |
| regionname0 | FAM153A_chr5_177723364_177782899 |
| regionname5000 | FAM153A_chr5_177718364_177787899 |
| 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 | 1/1 | 310 | 30 | 8 | 6 | 12 | 0 | 2 | 6 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0002 | 0/0 | 310 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0003 | 0/0 | 310 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0004 | 0/0 | 310 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0005 | 0/0 | 310 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| 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 | 0/1 | 933 | 29 | 8 | 6 | 12 | 0 | 2 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| c0002 | 0/0 | 933 | 3 | 3 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| c0003 | 1/0 | 933 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| c0004 | 0/0 | 933 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| c0005 | 0/0 | 933 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| c0006 | 0/0 | 933 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| 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 | 1/0 | 1244 | 20 | 5 | 2 | 12 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| t0002 | 0/1 | 1244 | 5 | 0 | 2 | 0 | 0 | 2 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| t0003 | 0/0 | 1244 | 5 | 5 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| t0004 | 0/0 | 1244 | 3 | 3 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| t0005 | 0/0 | 1244 | 2 | 0 | 2 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| t0006 | 0/0 | 1244 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| 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 | 2 | 2 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0007 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0009 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| 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 | 0/1 | 933 | 29 | 8 | 6 | 12 | 0 | 2 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0001c0003 | 1/0 | 933 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0002c0002 | 0/0 | 933 | 3 | 3 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0003c0005 | 0/0 | 933 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0004c0004 | 0/0 | 933 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0005c0006 | 0/0 | 933 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2176 | 17 | 3 | 2 | 12 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0001c0001t0002 | 0/1 | 2176 | 5 | 0 | 2 | 0 | 0 | 2 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0001c0001t0003 | 0/0 | 2176 | 5 | 5 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0001c0001t0005 | 0/0 | 2176 | 2 | 0 | 2 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0001c0003t0001 | 1/0 | 2176 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0002c0002t0004 | 0/0 | 2176 | 3 | 3 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0003c0005t0001 | 0/0 | 2176 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0004c0004t0006 | 0/0 | 2176 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| a0005c0006t0001 | 0/0 | 2176 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | copy fasta | chr5 | 177718364 | 177787899 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0002g0002 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0002g0005 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0002g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0002g0007 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0002g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0003g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0003g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0003g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0005g0003 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0001t0005g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0001c0003t0001g0009 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0002c0002t0004g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0002c0002t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0002c0002t0004g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0003c0005t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0004c0004t0006g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| a0005c0006t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | CHS | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | CHS | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0021 | AMR | PUR | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0008 | AMR | PUR | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG01255 | hp1 | a0001 | c0001 | t0005 | g0003 | AMR | CLM | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG01255 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG01952 | hp1 | a0001 | c0001 | t0005 | g0004 | AMR | PEL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0034 | AMR | PEL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | KHV | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | KHV | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG02258 | hp1 | a0002 | c0002 | t0004 | g0027 | AFR | ACB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0033 | AFR | ACB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0023 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG02922 | hp2 | a0001 | c0001 | t0003 | g0016 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03130 | hp2 | a0001 | c0001 | t0003 | g0001 | AFR | ESN | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03453 | hp1 | a0001 | c0001 | t0003 | g0024 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0031 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0005 | SAS | BEB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03831 | hp2 | a0001 | c0001 | t0002 | g0006 | SAS | BEB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0018 | EAS | CHB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | CHB | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | JPT | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03471 | hp1 | a0002 | c0002 | t0004 | g0026 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG03471 | hp2 | a0003 | c0005 | t0001 | g0035 | AFR | MSL | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG06807 | hp1 | a0005 | c0006 | t0001 | g0032 | AFR | USA | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| HG06807 | hp2 | a0001 | c0001 | t0003 | g0001 | AFR | USA | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA21309 | hp1 | a0004 | c0004 | t0006 | g0025 | AFR | LWK | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| NA21309 | hp2 | a0002 | c0002 | t0004 | g0010 | AFR | LWK | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0002 | g0007 | REF | REF | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| homoSapiens_grch38 | hp1 | a0001 | c0003 | t0001 | g0009 | REF | REF | FAM153A_chr5_177718364_177787899 | FAM153A | chr5 | 177718364 | 177787899 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:177724328
|
T | G | 1 | a0003 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.806A>C | p.Glu269Ala | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 22/23 | 1300/2176 | 806/933 | 269/310 | chr5 | 177724328 | ||
| chr5:177724332
|
C | T | 1 | a0002 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
missense_variant | MODERATE | c.802G>A | p.Glu268Lys | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 22/23 | 1296/2176 | 802/933 | 268/310 | chr5 | 177724332 | ||
| chr5:177729522
|
T | C | 1 | a0002 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
missense_variant | MODERATE | c.665A>G | p.Glu222Gly | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/23 | 1159/2176 | 665/933 | 222/310 | chr5 | 177729522 | ||
| chr5:177732073
|
A | C | 1 | a0003 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.557T>G | p.Val186Gly | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 17/23 | 1051/2176 | 557/933 | 186/310 | chr5 | 177732073 | ||
| chr5:177736579
|
A | G | 1 | a0004 | 1 | NA21309.hp1 | missense_variant&splice_region_variant | MODERATE | c.433T>C | p.Phe145Leu | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/23 | 927/2176 | 433/933 | 145/310 | chr5 | 177736579 | ||
| chr5:177737043
|
G | A | 2 | a0003a0004 | 2 | HG03471.hp2 NA21309.hp1 |
missense_variant&splice_region_variant | MODERATE | c.401C>T | p.Thr134Met | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 13/23 | 895/2176 | 401/933 | 134/310 | chr5 | 177737043 | ||
| chr5:177737085
|
C | A | 1 | a0005 | 1 | HG06807.hp1 | missense_variant | MODERATE | c.359G>T | p.Gly120Val | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 13/23 | 853/2176 | 359/933 | 120/310 | chr5 | 177737085 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:177734890
|
A | G | 5 | a0001c0001a0002c0002a0003c0005others(2): Show | 35 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(32): Show |
synonymous_variant | LOW | c.477T>C | p.Gly159Gly | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 15/23 | 971/2176 | 477/933 | 159/310 | chr5 | 177734890 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:177723463
|
A | G | 1 | a0001c0001t0003 | 5 | HG02922.hp1 HG02922.hp2 HG03130.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*650T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 650 | chr5 | 177723463 | |||||
| chr5:177723469
|
T | G | 1 | a0004c0004t0006 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*644A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 644 | chr5 | 177723469 | |||||
| chr5:177723615
|
G | A | 1 | a0001c0001t0005 | 2 | HG01255.hp1 HG01952.hp1 |
3_prime_UTR_variant | MODIFIER | c.*498C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 498 | chr5 | 177723615 | |||||
| chr5:177723723
|
C | T | 1 | a0002c0002t0004 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*390G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 390 | chr5 | 177723723 | |||||
| chr5:177723778
|
A | G | 1 | a0004c0004t0006 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*335T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 23/23 | 335 | chr5 | 177723778 | |||||
| chr5:177782776
|
C | T | 2 | a0001c0001t0002a0001c0001t0005 | 7 | HG00639.hp2 HG01255.hp1 HG01255.hp2 others(4): Show |
5_prime_UTR_variant | MODIFIER | c.-371G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/23 | 34133 | chr5 | 177782776 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr5:177724261
|
A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.839+34T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 22/22 | chr5 | 177724261 | ||||||
| chr5:177724435
|
T | C | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.772-73A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724435 | ||||||
| chr5:177724455
|
C | T | 22 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(19): Show | 23 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(20): Show |
intron_variant | MODIFIER | c.772-93G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724455 | ||||||
| chr5:177724516
|
C | T | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.772-154G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724516 | ||||||
| chr5:177724685
|
A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.771+99T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724685 | ||||||
| chr5:177724693
|
G | A | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.771+91C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 21/22 | chr5 | 177724693 | ||||||
| chr5:177725037
|
T | C | 5 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027others(2): Show | 5 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.734-216A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725037 | ||||||
| chr5:177725188
|
G | T | 4 | a0001c0001t0001g0011a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG02258.hp1 HG03471.hp1 NA18612.hp2 others(1): Show |
intron_variant | MODIFIER | c.734-367C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725188 | ||||||
| chr5:177725308
|
G | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-487C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725308 | ||||||
| chr5:177725362
|
G | A | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.734-541C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725362 | ||||||
| chr5:177725507
|
T | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-686A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725507 | ||||||
| chr5:177725546
|
A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-725T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725546 | ||||||
| chr5:177725644
|
T | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-823A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725644 | ||||||
| chr5:177725676
|
A | G | 4 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027others(1): Show | 4 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.734-855T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177725676 | ||||||
| chr5:177726515
|
C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.734-1694G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177726515 | ||||||
| chr5:177727120
|
C | T | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.733+1903G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727120 | ||||||
| chr5:177727418
|
T | C | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.733+1605A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727418 | ||||||
| chr5:177727609
|
A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.733+1414T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727609 | ||||||
| chr5:177727669
|
G | GA | 34 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(31): Show | 35 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.733+1353dupT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727669 | ||||||
| chr5:177727741
|
A | T | 6 | a0001c0001t0001g0011a0002c0002t0004g0010a0002c0002t0004g0026others(3): Show | 6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.733+1282T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727741 | ||||||
| chr5:177727766
|
A | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.733+1257T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727766 | ||||||
| chr5:177727780
|
T | C | 6 | a0001c0001t0001g0011a0002c0002t0004g0010a0002c0002t0004g0026others(3): Show | 6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.733+1243A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177727780 | ||||||
| chr5:177728130
|
A | C | 1 | a0001c0001t0001g0014 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.733+893T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728130 | ||||||
| chr5:177728235
|
G | A | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.733+788C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728235 | ||||||
| chr5:177728264
|
C | T | 3 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015 | 3 | HG00621.hp2 NA19066.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.733+759G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728264 | ||||||
| chr5:177728309
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.733+714T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728309 | ||||||
| chr5:177728480
|
C | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.733+543G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728480 | ||||||
| chr5:177728527
|
G | T | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.733+496C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728527 | ||||||
| chr5:177728553
|
GT | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.733+469delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728553 | ||||||
| chr5:177728561
|
T | G | 2 | a0001c0001t0001g0034a0003c0005t0001g0035 | 2 | HG01952.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.733+462A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728561 | ||||||
| chr5:177728565
|
G | T | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.733+458C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728565 | ||||||
| chr5:177728668
|
G | A | 6 | a0001c0001t0001g0011a0002c0002t0004g0010a0002c0002t0004g0026others(3): Show | 6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.733+355C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 20/22 | chr5 | 177728668 | ||||||
| chr5:177729265
|
A | C | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.703-212T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/22 | chr5 | 177729265 | ||||||
| chr5:177729394
|
G | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.702+91C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/22 | chr5 | 177729394 | ||||||
| chr5:177729423
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.702+62T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 19/22 | chr5 | 177729423 | ||||||
| chr5:177729785
|
G | A | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.632-230C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177729785 | ||||||
| chr5:177729949
|
C | T | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-394G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177729949 | ||||||
| chr5:177730089
|
T | C | 1 | a0001c0001t0001g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.632-534A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730089 | ||||||
| chr5:177730235
|
G | T | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-680C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730235 | ||||||
| chr5:177730239
|
C | T | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-684G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730239 | ||||||
| chr5:177730281
|
G | T | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.632-726C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730281 | ||||||
| chr5:177730287
|
T | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-732A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730287 | ||||||
| chr5:177730313
|
T | C | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-758A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730313 | ||||||
| chr5:177730314
|
T | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-759A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730314 | ||||||
| chr5:177730319
|
A | G | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-764T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730319 | ||||||
| chr5:177730349
|
C | T | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-794G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730349 | ||||||
| chr5:177730367
|
T | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-812A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730367 | ||||||
| chr5:177730395
|
G | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-840C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730395 | ||||||
| chr5:177730479
|
T | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-924A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730479 | ||||||
| chr5:177730482
|
A | G | 1 | a0001c0001t0001g0020 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.632-927T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730482 | ||||||
| chr5:177730507
|
G | T | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-952C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730507 | ||||||
| chr5:177730536
|
C | T | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.632-981G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730536 | ||||||
| chr5:177730582
|
T | C | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+987A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730582 | ||||||
| chr5:177730639
|
G | T | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.631+930C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730639 | ||||||
| chr5:177730649
|
G | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.631+920C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730649 | ||||||
| chr5:177730713
|
C | G | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+856G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730713 | ||||||
| chr5:177730985
|
C | T | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+584G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177730985 | ||||||
| chr5:177731112
|
G | GT | 8 | a0001c0001t0001g0020a0001c0001t0001g0033a0001c0001t0002g0005others(5): Show | 8 | HG00639.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.631+456dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731112 | ||||||
| chr5:177731113
|
T | G | 1 | a0001c0001t0001g0012 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.631+456A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731113 | ||||||
| chr5:177731197
|
T | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+372A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731197 | ||||||
| chr5:177731213
|
C | A | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+356G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731213 | ||||||
| chr5:177731267
|
A | C | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+302T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731267 | ||||||
| chr5:177731313
|
A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.631+256T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731313 | ||||||
| chr5:177731350
|
T | C | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.631+219A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731350 | ||||||
| chr5:177731551
|
G | T | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.631+18C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 18/22 | chr5 | 177731551 | ||||||
| chr5:177731619
|
T | C | 34 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(31): Show | 35 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.601-20A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 17/22 | chr5 | 177731619 | ||||||
| chr5:177732165
|
G | A | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.530-65C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732165 | ||||||
| chr5:177732317
|
T | C | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.530-217A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732317 | ||||||
| chr5:177732462
|
A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.530-362T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732462 | ||||||
| chr5:177732510
|
CT | C | 6 | a0001c0001t0001g0011a0002c0002t0004g0010a0002c0002t0004g0026others(3): Show | 6 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(3): Show |
intron_variant | MODIFIER | c.530-411delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732510 | ||||||
| chr5:177732613
|
G | T | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.530-513C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732613 | ||||||
| chr5:177732695
|
A | G | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.530-595T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732695 | ||||||
| chr5:177732847
|
G | A | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.530-747C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732847 | ||||||
| chr5:177732875
|
T | C | 1 | a0001c0001t0001g0028 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.530-775A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177732875 | ||||||
| chr5:177733176
|
T | C | 1 | a0001c0001t0005g0004 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.530-1076A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733176 | ||||||
| chr5:177733263
|
A | G | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+1117T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733263 | ||||||
| chr5:177733283
|
T | C | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.529+1097A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733283 | ||||||
| chr5:177733354
|
G | A | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.529+1026C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177733354 | ||||||
| chr5:177734091
|
A | G | 2 | a0001c0001t0001g0011a0004c0004t0006g0025 | 2 | NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+289T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734091 | ||||||
| chr5:177734292
|
C | T | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+88G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734292 | ||||||
| chr5:177734310
|
T | A | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.529+70A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734310 | ||||||
| chr5:177734373
|
T | C | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | splice_region_variant&intron_variant | LOW | c.529+7A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 16/22 | chr5 | 177734373 | ||||||
| chr5:177734537
|
G | A | 1 | a0001c0001t0001g0019 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.505-133C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 15/22 | chr5 | 177734537 | ||||||
| chr5:177734667
|
A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.504+196T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 15/22 | chr5 | 177734667 | ||||||
| chr5:177734949
|
G | A | 4 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027others(1): Show | 4 | HG02258.hp1 HG03471.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.434-16C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177734949 | ||||||
| chr5:177734997
|
C | G | 3 | a0001c0001t0001g0011a0003c0005t0001g0035a0004c0004t0006g0025 | 3 | HG03471.hp2 NA18612.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.434-64G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177734997 | ||||||
| chr5:177735078
|
A | G | 3 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033 | 3 | HG02258.hp2 HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.434-145T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735078 | ||||||
| chr5:177735103
|
T | A | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.434-170A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735103 | ||||||
| chr5:177735160
|
C | T | 1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.434-227G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735160 | ||||||
| chr5:177735165
|
T | G | 1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.434-232A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735165 | ||||||
| chr5:177735189
|
C | A | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-256G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735189 | ||||||
| chr5:177735204
|
C | A | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.434-271G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735204 | ||||||
| chr5:177735221
|
A | C | 2 | a0001c0001t0002g0008a0003c0005t0001g0035 | 2 | HG00639.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.434-288T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735221 | ||||||
| chr5:177735293
|
C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-360G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735293 | ||||||
| chr5:177735317
|
A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-384T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735317 | ||||||
| chr5:177735559
|
C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-626G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735559 | ||||||
| chr5:177735626
|
C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.434-693G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735626 | ||||||
| chr5:177735755
|
G | C | 4 | a0001c0001t0003g0001a0001c0001t0003g0016a0001c0001t0003g0023others(1): Show | 5 | HG02922.hp1 HG02922.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.434-822C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735755 | ||||||
| chr5:177735804
|
A | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.433+775T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735804 | ||||||
| chr5:177735874
|
A | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.433+705T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177735874 | ||||||
| chr5:177736084
|
T | TAAAAGAC others(166): Show |
1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.433+494_433+495ins others(173): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 14/22 | chr5 | 177736084 | ||||||
| chr5:177736730
|
G | A | 1 | a0001c0001t0001g0015 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.403-121C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 13/22 | chr5 | 177736730 | ||||||
| chr5:177736781
|
C | CA | 34 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(31): Show | 35 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.403-173dupT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 13/22 | chr5 | 177736781 | ||||||
| chr5:177737345
|
T | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.332-233A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177737345 | ||||||
| chr5:177737504
|
T | C | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.332-392A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177737504 | ||||||
| chr5:177737550
|
C | T | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.332-438G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177737550 | ||||||
| chr5:177738026
|
T | C | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.332-914A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738026 | ||||||
| chr5:177738130
|
A | G | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.331+983T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738130 | ||||||
| chr5:177738593
|
C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.331+520G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738593 | ||||||
| chr5:177738667
|
C | T | 24 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(21): Show | 25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.331+446G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738667 | ||||||
| chr5:177738732
|
G | A | 1 | a0001c0001t0003g0023 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.331+381C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738732 | ||||||
| chr5:177738852
|
C | A | 1 | a0001c0001t0003g0016 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.331+261G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738852 | ||||||
| chr5:177738936
|
A | G | 2 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | NA18612.hp2 NA18974.hp1 |
intron_variant | MODIFIER | c.331+177T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 12/22 | chr5 | 177738936 | ||||||
| chr5:177739258
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.307-121T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 11/22 | chr5 | 177739258 | ||||||
| chr5:177739497
|
A | G | 3 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0005g0003 | 3 | HG01255.hp1 HG01255.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.306+103T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 11/22 | chr5 | 177739497 | ||||||
| chr5:177739498
|
A | T | 3 | a0001c0001t0002g0002a0001c0001t0002g0007a0001c0001t0005g0003 | 3 | HG01255.hp1 HG01255.hp2 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.306+102T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 11/22 | chr5 | 177739498 | ||||||
| chr5:177739792
|
C | T | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.236-122G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 10/22 | chr5 | 177739792 | ||||||
| chr5:177740345
|
C | T | 25 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 26 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.235+432G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 10/22 | chr5 | 177740345 | ||||||
| chr5:177741692
|
T | C | 1 | a0002c0002t0004g0026 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.134-360A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177741692 | ||||||
| chr5:177742684
|
G | A | 1 | a0001c0001t0002g0006 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.134-1352C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177742684 | ||||||
| chr5:177742839
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.134-1507G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177742839 | ||||||
| chr5:177743201
|
G | GT | 7 | a0001c0001t0001g0015a0001c0001t0001g0017a0001c0001t0001g0019others(4): Show | 7 | HG00621.hp2 HG02071.hp1 HG02071.hp2 others(4): Show |
intron_variant | MODIFIER | c.133+1192dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177743201 | ||||||
| chr5:177743206
|
G | T | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.133+1188C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177743206 | ||||||
| chr5:177744354
|
A | G | 6 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(3): Show | 6 | HG00621.hp2 NA18612.hp2 NA18974.hp1 others(3): Show |
intron_variant | MODIFIER | c.133+40T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 8/22 | chr5 | 177744354 | ||||||
| chr5:177744807
|
G | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.108+81C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 7/22 | chr5 | 177744807 | ||||||
| chr5:177744822
|
G | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.108+66C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 7/22 | chr5 | 177744822 | ||||||
| chr5:177745134
|
A | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-167T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745134 | ||||||
| chr5:177745350
|
A | C | 4 | a0001c0001t0002g0006a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG02258.hp1 HG03471.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.29-383T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745350 | ||||||
| chr5:177745533
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-566G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745533 | ||||||
| chr5:177745825
|
G | A | 4 | a0001c0001t0001g0013a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG02258.hp1 HG03471.hp1 NA19066.hp2 others(1): Show |
intron_variant | MODIFIER | c.29-858C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745825 | ||||||
| chr5:177745893
|
A | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-926T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177745893 | ||||||
| chr5:177746124
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-1157T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746124 | ||||||
| chr5:177746160
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-1193G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746160 | ||||||
| chr5:177746207
|
C | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.29-1240G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746207 | ||||||
| chr5:177746304
|
C | T | 1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.29-1337G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746304 | ||||||
| chr5:177746397
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1372T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746397 | ||||||
| chr5:177746453
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1316G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746453 | ||||||
| chr5:177746580
|
T | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1189A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746580 | ||||||
| chr5:177746618
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1151T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746618 | ||||||
| chr5:177746679
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+1090G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746679 | ||||||
| chr5:177746913
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+856T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177746913 | ||||||
| chr5:177747597
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.28+172T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 6/22 | chr5 | 177747597 | ||||||
| chr5:177748044
|
C | CCCTCTCT others(5): Show |
28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.4-263_4-252dupAAGG others(8): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 5/22 | chr5 | 177748044 | ||||||
| chr5:177748744
|
G | C | 3 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0007 | 3 | HG01255.hp2 HG03831.hp1 homoSapiens_chm13v2.hp1 |
intron_variant | MODIFIER | c.-56-45C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177748744 | ||||||
| chr5:177748825
|
T | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-126A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177748825 | ||||||
| chr5:177748876
|
G | A | 1 | a0001c0001t0001g0033 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-56-177C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177748876 | ||||||
| chr5:177749445
|
G | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-746C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177749445 | ||||||
| chr5:177749588
|
T | A | 1 | a0002c0002t0004g0026 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-56-889A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177749588 | ||||||
| chr5:177749619
|
C | T | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-56-920G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177749619 | ||||||
| chr5:177750746
|
A | G | 4 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(1): Show | 4 | HG02258.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-56-2047T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177750746 | ||||||
| chr5:177750822
|
C | A | 1 | a0001c0001t0001g0033 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-56-2123G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177750822 | ||||||
| chr5:177751646
|
A | G | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-56-2947T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177751646 | ||||||
| chr5:177751784
|
G | A | 1 | a0001c0001t0002g0006 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-56-3085C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177751784 | ||||||
| chr5:177751863
|
G | T | 4 | a0001c0001t0001g0022a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG02071.hp2 HG02258.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-56-3164C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177751863 | ||||||
| chr5:177752233
|
C | T | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-56-3534G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752233 | ||||||
| chr5:177752618
|
C | CA | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-56-3920dupT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752618 | ||||||
| chr5:177752618
|
CAA | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-3921_-56-3920d others(4): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752618 | ||||||
| chr5:177752796
|
C | T | 2 | a0001c0001t0001g0030a0001c0001t0001g0031 | 2 | HG03130.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-56-4097G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752796 | ||||||
| chr5:177752932
|
C | CA | 19 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(16): Show | 19 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(16): Show |
intron_variant | MODIFIER | c.-56-4234dupT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752932 | ||||||
| chr5:177752932
|
CA | C | 4 | a0001c0001t0003g0016a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG02258.hp1 HG02922.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-56-4234delT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177752932 | ||||||
| chr5:177753088
|
T | TA | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-4390_-56-4389i others(3): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753088 | ||||||
| chr5:177753089
|
T | A | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-4390A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753089 | ||||||
| chr5:177753235
|
G | A | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-56-4536C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753235 | ||||||
| chr5:177753957
|
C | T | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-56-5258G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177753957 | ||||||
| chr5:177754790
|
G | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-56-6091C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177754790 | ||||||
| chr5:177755484
|
G | A | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-56-6785C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177755484 | ||||||
| chr5:177755585
|
C | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-56-6886G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177755585 | ||||||
| chr5:177755593
|
G | A | 25 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 26 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-56-6894C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177755593 | ||||||
| chr5:177756289
|
A | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+7028T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756289 | ||||||
| chr5:177756423
|
T | A | 2 | a0001c0001t0001g0014a0001c0001t0001g0015 | 2 | HG00621.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-57+6894A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756423 | ||||||
| chr5:177756424
|
C | G | 1 | a0001c0001t0001g0013 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.-57+6893G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756424 | ||||||
| chr5:177756525
|
G | C | 25 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 26 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-57+6792C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177756525 | ||||||
| chr5:177757463
|
T | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+5854A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757463 | ||||||
| chr5:177757728
|
A | C | 28 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(25): Show | 29 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.-57+5589T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757728 | ||||||
| chr5:177757821
|
C | T | 1 | a0001c0001t0003g0016 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.-57+5496G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757821 | ||||||
| chr5:177757934
|
C | G | 1 | a0002c0002t0004g0010 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-57+5383G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177757934 | ||||||
| chr5:177758138
|
G | A | 1 | a0001c0001t0002g0002 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.-57+5179C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177758138 | ||||||
| chr5:177758432
|
G | A | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+4885C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177758432 | ||||||
| chr5:177759945
|
T | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3372A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177759945 | ||||||
| chr5:177760007
|
T | C | 1 | a0001c0001t0005g0004 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.-57+3310A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760007 | ||||||
| chr5:177760012
|
T | A | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3305A>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760012 | ||||||
| chr5:177760235
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3082G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760235 | ||||||
| chr5:177760235
|
CT | C | 25 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 26 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-57+3081delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760235 | ||||||
| chr5:177760236
|
T | TC | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+3080_-57+3081i others(3): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177760236 | ||||||
| chr5:177761138
|
T | C | 1 | a0001c0001t0001g0033 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.-57+2179A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177761138 | ||||||
| chr5:177761164
|
A | G | 4 | a0001c0001t0001g0033a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-57+2153T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177761164 | ||||||
| chr5:177761879
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-57+1438T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177761879 | ||||||
| chr5:177763294
|
C | T | 1 | a0001c0001t0001g0018 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.-57+23G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 4/22 | chr5 | 177763294 | ||||||
| chr5:177763758
|
T | G | 4 | a0001c0001t0001g0033a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG02258.hp1 HG02258.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-250-248A>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177763758 | ||||||
| chr5:177763915
|
T | C | 1 | a0005c0006t0001g0032 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-250-405A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177763915 | ||||||
| chr5:177765256
|
A | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-250-1746T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765256 | ||||||
| chr5:177765809
|
A | C | 1 | a0001c0001t0001g0011 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-251+1341T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765809 | ||||||
| chr5:177765843
|
G | T | 16 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(13): Show | 17 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(14): Show |
intron_variant | MODIFIER | c.-251+1307C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765843 | ||||||
| chr5:177765923
|
C | T | 25 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 26 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-251+1227G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177765923 | ||||||
| chr5:177766340
|
G | T | 3 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015 | 3 | HG00621.hp2 NA19066.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.-251+810C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177766340 | ||||||
| chr5:177766442
|
C | CAAAA | 34 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(31): Show | 35 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.-251+707_-251+708i others(6): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177766442 | ||||||
| chr5:177766654
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-251+496G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177766654 | ||||||
| chr5:177766854
|
T | C | 24 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(21): Show | 25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-251+296A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 3/22 | chr5 | 177766854 | ||||||
| chr5:177767262
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-82G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177767262 | ||||||
| chr5:177767589
|
T | C | 1 | a0002c0002t0004g0027 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-281-409A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177767589 | ||||||
| chr5:177768031
|
T | C | 34 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(31): Show | 35 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(32): Show |
intron_variant | MODIFIER | c.-281-851A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177768031 | ||||||
| chr5:177768256
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-1076G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177768256 | ||||||
| chr5:177769230
|
C | CA | 3 | a0001c0001t0001g0012a0001c0001t0001g0028a0001c0001t0002g0005 | 3 | HG03831.hp1 NA18974.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.-281-2051dupT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769230 | ||||||
| chr5:177769379
|
A | G | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-281-2199T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769379 | ||||||
| chr5:177769451
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-2271G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769451 | ||||||
| chr5:177769717
|
T | C | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-281-2537A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769717 | ||||||
| chr5:177769731
|
T | C | 1 | a0004c0004t0006g0025 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-281-2551A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769731 | ||||||
| chr5:177769740
|
C | G | 1 | a0001c0001t0002g0005 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.-281-2560G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177769740 | ||||||
| chr5:177770680
|
T | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-281-3500A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177770680 | ||||||
| chr5:177772403
|
C | G | 1 | a0001c0001t0001g0020 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.-281-5223G>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772403 | ||||||
| chr5:177772497
|
C | A | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-281-5317G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772497 | ||||||
| chr5:177772669
|
A | G | 13 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(10): Show | 13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5489T>C | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772669 | ||||||
| chr5:177772692
|
G | A | 13 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(10): Show | 13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5512C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772692 | ||||||
| chr5:177772704
|
G | A | 13 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(10): Show | 13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5524C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772704 | ||||||
| chr5:177772709
|
C | A | 13 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(10): Show | 13 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.-281-5529G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772709 | ||||||
| chr5:177772980
|
C | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-281-5800G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772980 | ||||||
| chr5:177772993
|
G | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-281-5813C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177772993 | ||||||
| chr5:177773013
|
A | C | 9 | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0002g0002others(6): Show | 9 | HG00639.hp1 HG00639.hp2 HG01255.hp1 others(6): Show |
intron_variant | MODIFIER | c.-281-5833T>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773013 | ||||||
| chr5:177773014
|
G | T | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-281-5834C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773014 | ||||||
| chr5:177773034
|
G | C | 10 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(7): Show | 10 | HG00639.hp1 HG00639.hp2 HG01255.hp1 others(7): Show |
intron_variant | MODIFIER | c.-281-5854C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773034 | ||||||
| chr5:177773075
|
C | A | 2 | a0001c0001t0001g0017a0001c0001t0001g0020 | 2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5895G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773075 | ||||||
| chr5:177773081
|
A | T | 2 | a0001c0001t0001g0017a0001c0001t0001g0020 | 2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5901T>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773081 | ||||||
| chr5:177773089
|
T | C | 2 | a0001c0001t0001g0017a0001c0001t0001g0020 | 2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5909A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773089 | ||||||
| chr5:177773095
|
G | A | 2 | a0001c0001t0001g0017a0001c0001t0001g0020 | 2 | NA19066.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.-281-5915C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177773095 | ||||||
| chr5:177774371
|
C | T | 1 | a0001c0001t0001g0017 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.-282+6078G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177774371 | ||||||
| chr5:177774463
|
G | A | 1 | a0001c0001t0001g0021 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-282+5986C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177774463 | ||||||
| chr5:177775583
|
G | C | 1 | a0001c0001t0003g0024 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-282+4866C>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177775583 | ||||||
| chr5:177775640
|
G | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+4809C>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177775640 | ||||||
| chr5:177775960
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+4489G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177775960 | ||||||
| chr5:177776951
|
T | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+3498A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177776951 | ||||||
| chr5:177777349
|
G | A | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+3100C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177777349 | ||||||
| chr5:177777490
|
G | A | 1 | a0001c0001t0001g0022 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-282+2959C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177777490 | ||||||
| chr5:177778261
|
T | TAA | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+2186_-282+218 others(6): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778261 | ||||||
| chr5:177778261
|
T | TAAA | 12 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0006others(9): Show | 13 | HG00639.hp2 HG01255.hp1 HG01255.hp2 others(10): Show |
intron_variant | MODIFIER | c.-282+2185_-282+218 others(7): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778261 | ||||||
| chr5:177778261
|
TAA | T | 10 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(7): Show | 10 | HG00639.hp1 HG02071.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.-282+2186_-282+218 others(6): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778261 | ||||||
| chr5:177778406
|
GA | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+2042delT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778406 | ||||||
| chr5:177778599
|
GA | G | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+1849delT | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177778599 | ||||||
| chr5:177779289
|
CGT | C | 24 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(21): Show | 25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-282+1158_-282+115 others(6): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177779289 | ||||||
| chr5:177779289
|
CGTGT | C | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-282+1156_-282+115 others(8): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177779289 | ||||||
| chr5:177779626
|
G | A | 24 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(21): Show | 25 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-282+823C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 2/22 | chr5 | 177779626 | ||||||
| chr5:177780840
|
C | T | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-337-336G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177780840 | ||||||
| chr5:177781264
|
A | AT | 4 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(1): Show | 4 | HG00621.hp2 HG01952.hp2 NA19066.hp2 others(1): Show |
intron_variant | MODIFIER | c.-337-761dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | ||||||
| chr5:177781264
|
A | ATT | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-337-762_-337-761d others(4): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | ||||||
| chr5:177781264
|
AT | A | 4 | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0007others(1): Show | 4 | HG03831.hp1 HG03831.hp2 NA21309.hp1 others(1): Show |
intron_variant | MODIFIER | c.-337-761delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | ||||||
| chr5:177781264
|
ATTTTTTT | A | 4 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(1): Show | 4 | HG02258.hp2 HG03130.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-337-767_-337-761d others(9): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781264 | ||||||
| chr5:177781757
|
C | T | 25 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 26 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-338+986G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781757 | ||||||
| chr5:177781761
|
C | A | 25 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(22): Show | 26 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(23): Show |
intron_variant | MODIFIER | c.-338+982G>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781761 | ||||||
| chr5:177781780
|
G | A | 3 | a0002c0002t0004g0010a0002c0002t0004g0026a0002c0002t0004g0027 | 3 | HG02258.hp1 HG03471.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-338+963C>T | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781780 | ||||||
| chr5:177781885
|
A | AT | 6 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0030others(3): Show | 6 | HG01255.hp1 HG01255.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-338+857dupA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781885 | ||||||
| chr5:177781885
|
AT | A | 4 | a0001c0001t0001g0034a0002c0002t0004g0010a0002c0002t0004g0026others(1): Show | 4 | HG01952.hp2 HG02258.hp1 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.-338+857delA | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177781885 | ||||||
| chr5:177782096
|
C | T | 1 | a0002c0002t0004g0010 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-338+647G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782096 | ||||||
| chr5:177782253
|
T | C | 2 | a0001c0001t0001g0028a0001c0001t0001g0029 | 2 | HG00621.hp1 NA18974.hp2 |
intron_variant | MODIFIER | c.-338+490A>G | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782253 | ||||||
| chr5:177782349
|
C | T | 1 | a0001c0001t0001g0030 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.-338+394G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782349 | ||||||
| chr5:177782472
|
C | T | 1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-338+271G>A | FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782472 | ||||||
| chr5:177782643
|
T | TATCCAAC others(620): Show |
1 | a0003c0005t0001g0035 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.-338+99_-338+100in others(628): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782643 | ||||||
| chr5:177782643
|
T | TATCCAAC others(620): Show |
5 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(2): Show | 5 | HG01952.hp2 HG02258.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.-338+99_-338+100in others(628): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782643 | ||||||
| chr5:177782643
|
T | TATCCAAC others(601): Show |
27 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(24): Show | 28 | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(25): Show |
intron_variant | MODIFIER | c.-338+99_-338+100in others(609): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782643 | ||||||
| chr5:177782643
|
T | TATCCAAC others(582): Show |
1 | a0001c0001t0002g0008 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-338+99_-338+100in others(590): Show |
FAM153A | ENSG00000170074.21 | transcript | ENST00000697116.2 | protein_coding | 1/22 | chr5 | 177782643 |