geneid | 338321 |
---|---|
ensemblid | ENSG00000185792.10 |
hgncid | 22941 |
symbol | NLRP9 |
name | NLR family pyrin domain containing 9 |
refseq_nuc | NM_176820.4 |
refseq_prot | NP_789790.2 |
ensembl_nuc | ENST00000332836.7 |
ensembl_prot | ENSP00000331857.2 |
mane_status | MANE Select |
chr | chr19 |
start | 55708438 |
end | 55738402 |
strand | - |
ver | v1.2 |
region | chr19:55708438-55738402 |
region5000 | chr19:55703438-55743402 |
regionname0 | NLRP9_chr19_55708438_55738402 |
regionname5000 | NLRP9_chr19_55703438_55743402 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 991 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | copy fasta | chr19 | 55703438 | 55743402 |
thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 503 | 2 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | copy fasta | chr19 | 55703438 | 55743402 |
achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 2976 | 1 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | copy fasta | chr19 | 55703438 | 55743402 |
a0001c0002 | 1/0 | 2976 | 1 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | copy fasta | chr19 | 55703438 | 55743402 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/1 | 3478 | 1 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | copy fasta | chr19 | 55703438 | 55743402 |
a0001c0002t0001 | 1/0 | 3478 | 1 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | copy fasta | chr19 | 55703438 | 55743402 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | chr19 | 55703438 | 55743402 |
a0001c0002t0001g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NLRP9_chr19_55703438_55743402 | NLRP9 | chr19 | 55703438 | 55743402 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | NLRP9_chr19_55703438_55743402 | NLRP9 | chr19 | 55703438 | 55743402 |
homoSapiens_grch38 | hp1 | a0001 | c0002 | t0001 | g0002 | REF | REF | NLRP9_chr19_55703438_55743402 | NLRP9 | chr19 | 55703438 | 55743402 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr19:55738306
|
A | G | 1 | a0001c0001 | 1 | homoSapiens_chm13v2.hp1 | synonymous_variant | LOW | c.69T>C | p.Phe23Phe | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 1/9 | 97/3478 | 69/2976 | 23/991 | chr19 | 55738306 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr19:55712950
|
G | GGAAGGGG others(1837): Show |
1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2502-361_2502-360i others(1846): Show |
NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 6/8 | chr19 | 55712950 | ||||||
chr19:55712954
|
A | G | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2502-364T>C | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 6/8 | chr19 | 55712954 | ||||||
chr19:55713548
|
C | T | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2502-958G>A | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 6/8 | chr19 | 55713548 | ||||||
chr19:55713636
|
T | TCTCCCCT others(167): Show |
1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2502-1047_2502-104 others(178): Show |
NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 6/8 | chr19 | 55713636 | ||||||
chr19:55713697
|
C | CCACCTCT others(202): Show |
1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2502-1108_2502-110 others(213): Show |
NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 6/8 | chr19 | 55713697 | ||||||
chr19:55713753
|
T | TCCCCCTC others(143): Show |
1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2502-1164_2502-116 others(154): Show |
NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 6/8 | chr19 | 55713753 | ||||||
chr19:55713774
|
T | TCCCCCCT others(15): Show |
1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2502-1185_2502-118 others(26): Show |
NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 6/8 | chr19 | 55713774 | ||||||
chr19:55720467
|
C | T | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.2159+3513G>A | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 4/8 | chr19 | 55720467 | ||||||
chr19:55727757
|
T | G | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.1994+2074A>C | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 3/8 | chr19 | 55727757 | ||||||
chr19:55735423
|
A | G | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.281-1873T>C | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 1/8 | chr19 | 55735423 | ||||||
chr19:55735738
|
A | C | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.281-2188T>G | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 1/8 | chr19 | 55735738 | ||||||
chr19:55736260
|
A | G | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.280+1835T>C | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 1/8 | chr19 | 55736260 | ||||||
chr19:55736261
|
G | A | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.280+1834C>T | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 1/8 | chr19 | 55736261 | ||||||
chr19:55736861
|
A | C | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.280+1234T>G | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 1/8 | chr19 | 55736861 | ||||||
chr19:55738079
|
A | G | 1 | a0001c0001t0001g0001 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.280+16T>C | NLRP9 | ENSG00000185792.10 | transcript | ENST00000332836.7 | protein_coding | 1/8 | chr19 | 55738079 |