geneid | 353144 |
---|---|
ensemblid | ENSG00000244057.5 |
hgncid | 16612 |
symbol | LCE3C |
name | late cornified envelope 3C |
refseq_nuc | NM_178434.3 |
refseq_prot | NP_848521.1 |
ensembl_nuc | ENST00000684028.1 |
ensembl_prot | ENSP00000507204.1 |
mane_status | MANE Select |
chr | chr1 |
start | 152600234 |
end | 152601086 |
strand | + |
ver | v1.2 |
region | chr1:152600234-152601086 |
region5000 | chr1:152595234-152606086 |
regionname0 | LCE3C_chr1_152600234_152601086 |
regionname5000 | LCE3C_chr1_152595234_152606086 |
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 | 94 | 53 | 23 | 4 | 20 | 2 | 2 | 18 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
a0002 | 0/0 | 94 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
a0003 | 0/0 | 94 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
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 | 285 | 53 | 23 | 4 | 20 | 2 | 2 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
c0002 | 0/0 | 285 | 3 | 3 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
c0003 | 0/0 | 285 | 2 | 2 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
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 | 147 | 58 | 28 | 4 | 20 | 2 | 2 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
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 | 1/1 | 57 | 28 | 4 | 20 | 1 | 2 | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
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 | 285 | 53 | 23 | 4 | 20 | 2 | 2 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
a0002c0002 | 0/0 | 285 | 3 | 3 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
a0003c0003 | 0/0 | 285 | 2 | 2 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 431 | 53 | 23 | 4 | 20 | 2 | 2 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
a0002c0002t0001 | 0/0 | 431 | 3 | 3 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
a0003c0003t0001 | 0/0 | 431 | 2 | 2 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | copy fasta | chr1 | 152595234 | 152606086 |
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 | 1/1 | 52 | 23 | 4 | 20 | 1 | 2 | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
a0002c0002t0001g0001 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
a0003c0003t0001g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00323 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | FIN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG00323 | hp2 | a0001 | c0001 | t0001 | g0002 | EUR | FIN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG01975 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PEL | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02055 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02055 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02258 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02258 | hp2 | a0002 | c0002 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02451 | hp1 | a0003 | c0003 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02451 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02717 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02717 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02886 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02886 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02922 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02922 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02976 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02976 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03041 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03041 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03098 | hp1 | a0003 | c0003 | t0001 | g0001 | AFR | MSL | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03098 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03195 | hp1 | a0002 | c0002 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03195 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03516 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG03516 | hp2 | a0002 | c0002 | t0001 | g0001 | AFR | ESN | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG04115 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG04115 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18906 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18953 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18968 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18985 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18985 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18997 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA18997 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19043 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19043 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | LWK | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19058 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19058 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19065 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19089 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
NA19089 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02486 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
HG02486 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ACB | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | LCE3C_chr1_152595234_152606086 | LCE3C | chr1 | 152595234 | 152606086 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:152600987
|
C | T | 1 | a0002 | 3 | HG02258.hp2 HG03195.hp1 HG03516.hp2 |
missense_variant | MODERATE | c.256C>T | p.Arg86Cys | LCE3C | ENSG00000244057.5 | transcript | ENST00000684028.1 | protein_coding | 2/2 | 332/431 | 256/285 | 86/94 | chr1 | 152600987 | ||
chr1:152600988
|
G | A | 1 | a0003 | 2 | HG02451.hp1 HG03098.hp1 |
missense_variant | MODERATE | c.257G>A | p.Arg86His | LCE3C | ENSG00000244057.5 | transcript | ENST00000684028.1 | protein_coding | 2/2 | 333/431 | 257/285 | 86/94 | chr1 | 152600988 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:152600565
|
C | T | 1 | a0001c0001t0001g0002 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.-25-142C>T | LCE3C | ENSG00000244057.5 | transcript | ENST00000684028.1 | protein_coding | 1/1 | chr1 | 152600565 |