| geneid | 1504 |
|---|---|
| ensemblid | ENSG00000168925.12 |
| hgncid | 2521 |
| symbol | CTRB1 |
| name | chymotrypsinogen B1 |
| refseq_nuc | NM_001906.6 |
| refseq_prot | NP_001897.4 |
| ensembl_nuc | ENST00000361017.9 |
| ensembl_prot | ENSP00000354294.4 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 75218988 |
| end | 75224924 |
| strand | + |
| ver | v1.2 |
| region | chr16:75218988-75224924 |
| region5000 | chr16:75213988-75229924 |
| regionname0 | CTRB1_chr16_75218988_75224924 |
| regionname5000 | CTRB1_chr16_75213988_75229924 |
| 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 | 263 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | copy fasta | chr16 | 75213988 | 75229924 |
| 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 | 1/1 | 792 | 2 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | copy fasta | chr16 | 75213988 | 75229924 |
| 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 | 1/1 | 79 | 2 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | copy fasta | chr16 | 75213988 | 75229924 |
| 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 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | chr16 | 75213988 | 75229924 |
| g0002 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | chr16 | 75213988 | 75229924 |
| 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 | 1/1 | 792 | 2 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | copy fasta | chr16 | 75213988 | 75229924 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 870 | 2 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | copy fasta | chr16 | 75213988 | 75229924 |
| actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | chr16 | 75213988 | 75229924 |
| a0001c0001t0001g0002 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CTRB1_chr16_75213988_75229924 | CTRB1 | chr16 | 75213988 | 75229924 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0002 | REF | REF | CTRB1_chr16_75213988_75229924 | CTRB1 | chr16 | 75213988 | 75229924 |
| homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | CTRB1_chr16_75213988_75229924 | CTRB1 | chr16 | 75213988 | 75229924 |
| 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 |
|---|
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:75223672
|
C | T | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.496+44C>T | CTRB1 | ENSG00000168925.12 | transcript | ENST00000361017.9 | protein_coding | 5/6 | chr16 | 75223672 |