geneid | 645651 |
---|---|
ensemblid | ENSG00000285814.1 |
hgncid | 32262 |
symbol | FAM90A14 |
name | family with sequence similarity 90 member A14 |
refseq_nuc | NM_001164452.1 |
refseq_prot | NP_001157924.1 |
ensembl_nuc | ENST00000648315.1 |
ensembl_prot | ENSP00000497439.1 |
mane_status | MANE Select |
chr | chr8 |
start | 7715443 |
end | 7718453 |
strand | + |
ver | v1.2 |
region | chr8:7715443-7718453 |
region5000 | chr8:7710443-7723453 |
regionname0 | FAM90A14_chr8_7715443_7718453 |
regionname5000 | FAM90A14_chr8_7710443_7723453 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0002 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0003 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0004 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0005 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0006 | 0/0 | 464 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
c0002 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
c0003 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
c0004 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
c0005 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
c0006 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
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 |
---|
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 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0002c0003 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0003c0004 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0004c0001 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0005c0005 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0006c0006 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0000 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0002c0003t0000 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0003c0004t0000 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0004c0001t0000 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0005c0005t0000 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
a0006c0006t0000 | 0/0 | 1395 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | copy fasta | chr8 | 7710443 | 7723453 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0002t0000g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
a0002c0003t0000g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
a0003c0004t0000g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
a0004c0001t0000g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
a0005c0005t0000g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
a0006c0006t0000g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG02572 | hp1 | a0002 | c0003 | t0000 | g0002 | AFR | GWD | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
HG02572 | hp2 | a0003 | c0004 | t0000 | g0004 | AFR | GWD | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
HG02630 | hp1 | a0005 | c0005 | t0000 | g0001 | AFR | GWD | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
HG02630 | hp2 | a0001 | c0002 | t0000 | g0005 | AFR | GWD | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
NA19030 | hp1 | a0006 | c0006 | t0000 | g0001 | AFR | LWK | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
NA19030 | hp2 | a0004 | c0001 | t0000 | g0003 | AFR | LWK | FAM90A14_chr8_7710443_7723453 | FAM90A14 | chr8 | 7710443 | 7723453 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7715465
|
C | A | 4 | a0001a0002a0003others(1): Show | 4 | HG02572.hp1 HG02572.hp2 HG02630.hp2 others(1): Show |
missense_variant | MODERATE | c.23C>A | p.Thr8Lys | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/4 | 23/1395 | 23/1395 | 8/464 | chr8 | 7715465 | ||
chr8:7715557
|
G | C | 1 | a0004 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.115G>C | p.Asp39His | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/4 | 115/1395 | 115/1395 | 39/464 | chr8 | 7715557 | ||
chr8:7716147
|
G | T | 1 | a0003 | 1 | HG02572.hp2 | missense_variant | MODERATE | c.211G>T | p.Ala71Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/4 | 211/1395 | 211/1395 | 71/464 | chr8 | 7716147 | ||
chr8:7716202
|
T | G | 3 | a0001a0002a0003 | 3 | HG02572.hp1 HG02572.hp2 HG02630.hp2 |
missense_variant | MODERATE | c.266T>G | p.Val89Gly | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/4 | 266/1395 | 266/1395 | 89/464 | chr8 | 7716202 | ||
chr8:7716809
|
C | T | 4 | a0001a0002a0003others(1): Show | 4 | HG02572.hp1 HG02572.hp2 HG02630.hp2 others(1): Show |
missense_variant | MODERATE | c.415C>T | p.Pro139Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/4 | 415/1395 | 415/1395 | 139/464 | chr8 | 7716809 | ||
chr8:7716818
|
T | C | 1 | a0003 | 1 | HG02572.hp2 | missense_variant | MODERATE | c.424T>C | p.Tyr142His | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/4 | 424/1395 | 424/1395 | 142/464 | chr8 | 7716818 | ||
chr8:7717539
|
T | G | 1 | a0003 | 1 | HG02572.hp2 | missense_variant | MODERATE | c.481T>G | p.Leu161Val | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 481/1395 | 481/1395 | 161/464 | chr8 | 7717539 | ||
chr8:7717548
|
G | A | 1 | a0004 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.490G>A | p.Val164Ile | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 490/1395 | 490/1395 | 164/464 | chr8 | 7717548 | ||
chr8:7717569
|
A | G | 1 | a0003 | 1 | HG02572.hp2 | missense_variant | MODERATE | c.511A>G | p.Thr171Ala | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 511/1395 | 511/1395 | 171/464 | chr8 | 7717569 | ||
chr8:7717573
|
A | C | 2 | a0001a0004 | 2 | HG02630.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.515A>C | p.Glu172Ala | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 515/1395 | 515/1395 | 172/464 | chr8 | 7717573 | ||
chr8:7717752
|
C | A | 1 | a0002 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.694C>A | p.Arg232Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 694/1395 | 694/1395 | 232/464 | chr8 | 7717752 | ||
chr8:7717765
|
A | G | 5 | a0001a0002a0003others(2): Show | 5 | HG02572.hp1 HG02572.hp2 HG02630.hp2 others(2): Show |
missense_variant | MODERATE | c.707A>G | p.Asp236Gly | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 707/1395 | 707/1395 | 236/464 | chr8 | 7717765 | ||
chr8:7717810
|
T | C | 2 | a0001a0004 | 2 | HG02630.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.752T>C | p.Leu251Pro | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 752/1395 | 752/1395 | 251/464 | chr8 | 7717810 | ||
chr8:7717833
|
C | G | 1 | a0001 | 1 | HG02630.hp2 | missense_variant | MODERATE | c.775C>G | p.Gln259Glu | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 775/1395 | 775/1395 | 259/464 | chr8 | 7717833 | ||
chr8:7718034
|
G | C | 1 | a0002 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.976G>C | p.Gly326Arg | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 976/1395 | 976/1395 | 326/464 | chr8 | 7718034 | ||
chr8:7718075
|
A | T | 1 | a0001 | 1 | HG02630.hp2 | missense_variant | MODERATE | c.1017A>T | p.Glu339Asp | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1017/1395 | 1017/1395 | 339/464 | chr8 | 7718075 | ||
chr8:7718094
|
C | T | 1 | a0001 | 1 | HG02630.hp2 | missense_variant | MODERATE | c.1036C>T | p.Pro346Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1036/1395 | 1036/1395 | 346/464 | chr8 | 7718094 | ||
chr8:7718104
|
G | A | 1 | a0002 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.1046G>A | p.Gly349Asp | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1046/1395 | 1046/1395 | 349/464 | chr8 | 7718104 | ||
chr8:7718158
|
G | C | 3 | a0001a0003a0004 | 3 | HG02572.hp2 HG02630.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1100G>C | p.Arg367Thr | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1100/1395 | 1100/1395 | 367/464 | chr8 | 7718158 | ||
chr8:7718202
|
C | T | 3 | a0001a0003a0004 | 3 | HG02572.hp2 HG02630.hp2 NA19030.hp2 |
missense_variant | MODERATE | c.1144C>T | p.Pro382Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1144/1395 | 1144/1395 | 382/464 | chr8 | 7718202 | ||
chr8:7718284
|
T | C | 1 | a0002 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.1226T>C | p.Leu409Pro | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1226/1395 | 1226/1395 | 409/464 | chr8 | 7718284 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7716808
|
A | G | 1 | a0003c0004 | 1 | HG02572.hp2 | synonymous_variant | LOW | c.414A>G | p.Glu138Glu | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/4 | 414/1395 | 414/1395 | 138/464 | chr8 | 7716808 | ||
chr8:7717565
|
A | C | 1 | a0002c0003 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.507A>C | p.Ser169Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 507/1395 | 507/1395 | 169/464 | chr8 | 7717565 | ||
chr8:7717568
|
T | A | 1 | a0002c0003 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.510T>A | p.Ala170Ala | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 510/1395 | 510/1395 | 170/464 | chr8 | 7717568 | ||
chr8:7717682
|
C | T | 1 | a0001c0002 | 1 | HG02630.hp2 | synonymous_variant | LOW | c.624C>T | p.Ala208Ala | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 624/1395 | 624/1395 | 208/464 | chr8 | 7717682 | ||
chr8:7717724
|
T | A | 1 | a0001c0002 | 1 | HG02630.hp2 | synonymous_variant | LOW | c.666T>A | p.Pro222Pro | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 666/1395 | 666/1395 | 222/464 | chr8 | 7717724 | ||
chr8:7717805
|
C | A | 2 | a0001c0002a0004c0001 | 2 | HG02630.hp2 NA19030.hp2 |
synonymous_variant | LOW | c.747C>A | p.Gly249Gly | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 747/1395 | 747/1395 | 249/464 | chr8 | 7717805 | ||
chr8:7717859
|
A | G | 1 | a0003c0004 | 1 | HG02572.hp2 | synonymous_variant | LOW | c.801A>G | p.Ser267Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 801/1395 | 801/1395 | 267/464 | chr8 | 7717859 | ||
chr8:7718072
|
C | A | 1 | a0002c0003 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.1014C>A | p.Thr338Thr | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1014/1395 | 1014/1395 | 338/464 | chr8 | 7718072 | ||
chr8:7718171
|
C | T | 4 | a0001c0002a0002c0003a0003c0004others(1): Show | 4 | HG02572.hp1 HG02572.hp2 HG02630.hp2 others(1): Show |
synonymous_variant | LOW | c.1113C>T | p.Pro371Pro | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1113/1395 | 1113/1395 | 371/464 | chr8 | 7718171 | ||
chr8:7718294
|
C | G | 1 | a0002c0003 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.1236C>G | p.Pro412Pro | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1236/1395 | 1236/1395 | 412/464 | chr8 | 7718294 | ||
chr8:7718339
|
C | T | 1 | a0004c0001 | 1 | NA19030.hp2 | synonymous_variant | LOW | c.1281C>T | p.Ser427Ser | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 4/4 | 1281/1395 | 1281/1395 | 427/464 | chr8 | 7718339 |
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:7715616
|
G | A | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.123+51G>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715616 | ||||||
chr8:7715634
|
G | T | 1 | a0001c0002t0000g0005 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.123+69G>T | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715634 | ||||||
chr8:7715705
|
G | A | 1 | a0001c0002t0000g0005 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.123+140G>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715705 | ||||||
chr8:7715791
|
G | A | 1 | a0004c0001t0000g0003 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.123+226G>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715791 | ||||||
chr8:7715878
|
A | C | 3 | a0001c0002t0000g0005a0003c0004t0000g0004a0004c0001t0000g0003 | 3 | HG02572.hp2 HG02630.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.124-182A>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715878 | ||||||
chr8:7715880
|
A | C | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.124-180A>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715880 | ||||||
chr8:7715880
|
A | G | 1 | a0004c0001t0000g0003 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.124-180A>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715880 | ||||||
chr8:7715881
|
C | T | 4 | a0001c0002t0000g0005a0002c0003t0000g0002a0003c0004t0000g0004others(1): Show | 4 | HG02572.hp1 HG02572.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.124-179C>T | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715881 | ||||||
chr8:7715905
|
T | C | 1 | a0004c0001t0000g0003 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.124-155T>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715905 | ||||||
chr8:7715911
|
C | G | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.124-149C>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715911 | ||||||
chr8:7715918
|
A | G | 2 | a0003c0004t0000g0004a0004c0001t0000g0003 | 2 | HG02572.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.124-142A>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 1/3 | chr8 | 7715918 | ||||||
chr8:7716290
|
T | A | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.323+31T>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716290 | ||||||
chr8:7716291
|
A | G | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.323+32A>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716291 | ||||||
chr8:7716294
|
A | G | 3 | a0001c0002t0000g0005a0002c0003t0000g0002a0003c0004t0000g0004 | 3 | HG02572.hp1 HG02572.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.323+35A>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716294 | ||||||
chr8:7716296
|
G | A | 3 | a0001c0002t0000g0005a0002c0003t0000g0002a0003c0004t0000g0004 | 3 | HG02572.hp1 HG02572.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.323+37G>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716296 | ||||||
chr8:7716368
|
G | A | 3 | a0001c0002t0000g0005a0002c0003t0000g0002a0003c0004t0000g0004 | 3 | HG02572.hp1 HG02572.hp2 HG02630.hp2 |
intron_variant | MODIFIER | c.323+109G>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716368 | ||||||
chr8:7716396
|
G | A | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.323+137G>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716396 | ||||||
chr8:7716404
|
C | A | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.323+145C>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716404 | ||||||
chr8:7716412
|
C | A | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.323+153C>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716412 | ||||||
chr8:7716426
|
C | A | 1 | a0001c0002t0000g0005 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.323+167C>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716426 | ||||||
chr8:7716493
|
G | C | 3 | a0002c0003t0000g0002a0003c0004t0000g0004a0004c0001t0000g0003 | 3 | HG02572.hp1 HG02572.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.324-225G>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716493 | ||||||
chr8:7716530
|
T | C | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.324-188T>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716530 | ||||||
chr8:7716531
|
C | G | 4 | a0001c0002t0000g0005a0002c0003t0000g0002a0003c0004t0000g0004others(1): Show | 4 | HG02572.hp1 HG02572.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.324-187C>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716531 | ||||||
chr8:7716644
|
G | C | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.324-74G>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716644 | ||||||
chr8:7716649
|
C | G | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.324-69C>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716649 | ||||||
chr8:7716664
|
C | A | 1 | a0004c0001t0000g0003 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.324-54C>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716664 | ||||||
chr8:7716665
|
C | A | 1 | a0004c0001t0000g0003 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.324-53C>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716665 | ||||||
chr8:7716665
|
C | T | 1 | a0001c0002t0000g0005 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.324-53C>T | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716665 | ||||||
chr8:7716693
|
G | C | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.324-25G>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716693 | ||||||
chr8:7716704
|
T | C | 4 | a0001c0002t0000g0005a0002c0003t0000g0002a0003c0004t0000g0004others(1): Show | 4 | HG02572.hp1 HG02572.hp2 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.324-14T>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 2/3 | chr8 | 7716704 | ||||||
chr8:7716828
|
C | G | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | splice_donor_variant&intron_variant | HIGH | c.432+2C>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7716828 | ||||||
chr8:7716828
|
C | T | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | splice_donor_variant&intron_variant | HIGH | c.432+2C>T | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7716828 | ||||||
chr8:7716853
|
T | C | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.432+27T>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7716853 | ||||||
chr8:7716924
|
C | G | 1 | a0002c0003t0000g0002 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.432+98C>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7716924 | ||||||
chr8:7717000
|
C | G | 2 | a0003c0004t0000g0004a0004c0001t0000g0003 | 2 | HG02572.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.432+174C>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7717000 | ||||||
chr8:7717017
|
T | G | 2 | a0003c0004t0000g0004a0004c0001t0000g0003 | 2 | HG02572.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.432+191T>G | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7717017 | ||||||
chr8:7717123
|
G | A | 2 | a0001c0002t0000g0005a0004c0001t0000g0003 | 2 | HG02630.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.432+297G>A | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7717123 | ||||||
chr8:7717158
|
C | T | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.432+332C>T | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7717158 | ||||||
chr8:7717180
|
T | C | 1 | a0003c0004t0000g0004 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.433-311T>C | FAM90A14 | ENSG00000285814.1 | transcript | ENST00000648315.1 | protein_coding | 3/3 | chr8 | 7717180 |