| geneid | 95 |
|---|---|
| ensemblid | ENSG00000243989.9 |
| hgncid | 177 |
| symbol | ACY1 |
| name | aminoacylase 1 |
| refseq_nuc | NM_000666.3 |
| refseq_prot | NP_000657.1 |
| ensembl_nuc | ENST00000636358.2 |
| ensembl_prot | ENSP00000490149.1 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 51983535 |
| end | 51989197 |
| strand | + |
| ver | v1.2 |
| region | chr3:51983535-51989197 |
| region5000 | chr3:51978535-51994197 |
| regionname0 | ACY1_chr3_51983535_51989197 |
| regionname5000 | ACY1_chr3_51978535_51994197 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| genename | 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
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY1 | 1/1 | a0001 | 408 | 328 | 84 | 61 | 123 | 14 | 44 | subcellular location copy fasta | chr3 | 51978535 | 51994197 |
| genename | 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
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY1 | 1/1 | c0001 | 1227 | 326 | 84 | 59 | 123 | 14 | 44 | copy fasta | chr3 | 51978535 | 51994197 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY1 | 1/1 | t0001 | 196 | 331 | 83 | 60 | 128 | 14 | 44 | copy fasta | chr3 | 51978535 | 51994197 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY1 | 1/1 | g0001 | 194 | 44 | 50 | 60 | 11 | 27 | chr3 | 51978535 | 51994197 |
| genename | 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY1 | 1/1 | a0001c0001 | 326 | 84 | 59 | 123 | 14 | 44 | 1227 | copy fasta | chr3 | 51978535 | 51994197 |
| genename | 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY1 | 1/1 | a0001c0001t0001 | 319 | 79 | 57 | 123 | 14 | 44 | 1422 | copy fasta | chr3 | 51978535 | 51994197 |
| genename | 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ACY1 | 1/1 | a0001c0001t0001g0001 | 184 | 38 | 47 | 59 | 11 | 27 | chr3 | 51978535 | 51994197 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 51983589 | + | 1 | -0.7978 | -0.7948 | -0.7843 | 0.0135 | acceptor | a0001c0001t0001g0001 | homoSapiens_chm13v2.hp1 | HG02602.hp1 | ACY1 | chr3 | 51978535 | 51994197 |
| 51984047 | + | 2 | 0.9929 | 0.9924 | 0.9908 | 0.0020 | donor | a0001c0001t0001g0001 | HG01361.hp1 HG02486.hp2 HG02886.hp1 NA20752.hp2 |
HG02602.hp1 HG03491.hp2 HG03492.hp2 HG04228.hp2 |
ACY1 | chr3 | 51978535 | 51994197 |
| 51984158 | + | 2 | -0.9919 | -0.9914 | -0.9911 | 0.0008 | acceptor | a0001c0001t0001g0001 | HG01358.hp2 HG02523.hp2 NA18940.hp1 NA19011.hp2 NA19066.hp1 |
HG03453.hp1 | ACY1 | chr3 | 51978535 | 51994197 |
| 51985207 | + | 3 | 0.9494 | 0.9491 | 0.9489 | 0.0004 | donor | a0001c0001t0001g0001 | homoSapiens_chm13v2.hp1 | HG00423.hp1 HG00597.hp1 HG00597.hp2 HG01070.hp1 HG01070.hp2 others(37): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51985271 | + | 3 | -0.9730 | -0.9728 | -0.9728 | 0.0002 | acceptor | a0001c0001t0001g0001 | HG01106.hp2 HG01169.hp1 HG01496.hp1 HG02109.hp1 HG02559.hp2 others(8): Show |
HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00597.hp1 others(75): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51985361 | + | 4 | 0.9971 | 0.9971 | 0.9971 | 0.0000 | donor | a0001c0001t0001g0001 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(177): Show |
HG01106.hp2 HG01496.hp1 |
ACY1 | chr3 | 51978535 | 51994197 |
| 51985465 | + | 4 | -0.9981 | -0.9980 | -0.9981 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00140.hp1 HG00609.hp2 HG00741.hp2 HG01361.hp1 HG01884.hp2 others(16): Show |
HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 others(158): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51985852 | + | 5 | 0.9931 | 0.9931 | 0.9931 | 0.0000 | donor | a0001c0001t0001g0001 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(179): Show |
HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(179): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51985946 | + | 5 | -0.9905 | -0.9905 | -0.9905 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(176): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51986255 | + | 6 | 0.9858 | 0.9858 | 0.9858 | 0.0000 | donor | a0001c0001t0001g0001 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(176): Show |
HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
ACY1 | chr3 | 51978535 | 51994197 |
| 51986331 | + | 6 | -0.9821 | -0.9820 | -0.9821 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00741.hp2 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(178): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51986415 | + | 7 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0001c0001t0001g0001 | HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 others(127): Show |
HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 others(47): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51986504 | + | 7 | -0.9887 | -0.9887 | -0.9887 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(179): Show |
HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(179): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51986605 | + | 8 | 0.9365 | 0.9365 | 0.9364 | 0.0000 | donor | a0001c0001t0001g0001 | HG01978.hp2 HG02897.hp1 |
HG03834.hp1 | ACY1 | chr3 | 51978535 | 51994197 |
| 51986661 | + | 8 | -0.8342 | -0.8341 | -0.8340 | 0.0002 | acceptor | a0001c0001t0001g0001 | HG02897.hp1 | HG00741.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51986988 | + | 9 | 0.9465 | 0.9465 | 0.9465 | 0.0001 | donor | a0001c0001t0001g0001 | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 others(44): Show |
HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 others(128): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51987061 | + | 9 | -0.9679 | -0.9678 | -0.9677 | 0.0002 | acceptor | a0001c0001t0001g0001 | HG02897.hp1 | HG03834.hp1 | ACY1 | chr3 | 51978535 | 51994197 |
| 51987147 | + | 10 | 0.9060 | 0.9059 | 0.9058 | 0.0002 | donor | a0001c0001t0001g0001 | HG02897.hp1 | HG00741.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51987196 | + | 10 | -0.8974 | -0.8974 | -0.8972 | 0.0003 | acceptor | a0001c0001t0001g0001 | HG03834.hp1 | HG02897.hp1 | ACY1 | chr3 | 51978535 | 51994197 |
| 51987309 | + | 11 | 0.9888 | 0.9887 | 0.9886 | 0.0002 | donor | a0001c0001t0001g0001 | HG00741.hp2 | HG01978.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51987453 | + | 11 | -0.9531 | -0.9530 | -0.9529 | 0.0001 | acceptor | a0001c0001t0001g0001 | HG00741.hp2 NA18972.hp2 |
HG01978.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51987556 | + | 12 | 0.9693 | 0.9691 | 0.9689 | 0.0004 | donor | a0001c0001t0001g0001 | HG02897.hp1 | HG01978.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51987624 | + | 12 | -0.9955 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0001c0001t0001g0001 | HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 others(44): Show |
HG00099.hp2 HG00408.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 others(127): Show |
ACY1 | chr3 | 51978535 | 51994197 |
| 51988524 | + | 13 | 0.6221 | 0.6205 | 0.6186 | 0.0035 | donor | a0001c0001t0001g0001 | HG02897.hp1 | HG03834.hp1 | ACY1 | chr3 | 51978535 | 51994197 |
| 51988603 | + | 13 | -0.5467 | -0.5440 | -0.5409 | 0.0059 | acceptor | a0001c0001t0001g0001 | HG03834.hp1 | HG00741.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51988766 | + | 14 | 0.9945 | 0.9941 | 0.9940 | 0.0004 | donor | a0001c0001t0001g0001 | HG02897.hp1 | HG00741.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51988826 | + | 14 | -0.9966 | -0.9965 | -0.9965 | 0.0001 | acceptor | a0001c0001t0001g0001 | HG02897.hp1 | NA18972.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| 51988911 | + | 15 | 0.9715 | 0.9701 | 0.9696 | 0.0019 | donor | a0001c0001t0001g0001 | HG02897.hp1 | HG04115.hp2 | ACY1 | chr3 | 51978535 | 51994197 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:51982820
|
c.-788C>T | Aminoacylase-1 levels0.59 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABHD14A-ACY1, ABHD14B | rs150416778-T | + | MODIFIER | chr3 | C | T | |
|
chr3:51982820
|
c.-788C>T | Plasma N-acetylalanine levels in chronic kidney diseaseothers(18): Show | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,959 European ancestry individuals/ | ABHD14A-ACY1, ABHD14B | rs150416778-T | + | MODIFIER | chr3 | C | T | |
|
chr3:51982820
|
c.-788C>T | Plasma N-formylmethionine levels in chronic kidney diseaseothers(23): Show | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,960 European ancestry individuals/ | ABHD14A-ACY1, ABHD14B | rs150416778-T | + | MODIFIER | chr3 | C | T | |
|
chr3:51982820
|
c.-788C>T | Plasma N-acetylmethionine levels in chronic kidney diseaseothers(23): Show | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,937 European ancestry individuals/ | ABHD14A-ACY1, ABHD14B | rs150416778-T | + | MODIFIER | chr3 | C | T | |
|
chr3:51982820
|
c.-788C>T | Plasma N-acetylserine levels in chronic kidney diseaseothers(19): Show | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
Genetic studies of paired metabolomes reveal enzym others(66): Show |
4,959 European ancestry individuals/ | ABHD14A-ACY1, ABHD14B | rs150416778-T | + | MODIFIER | chr3 | C | T | |
|
chr3:51979867
|
c.-3741A>G | Height0.0135 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABHD14A, ABHD14A-ACY1, ABHD14B | rs13099450-G | + | MODIFIER | chr3 | A | G |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 51989321:splice 51989321:variant goto | ACY1downstream_gene_variantc.*246T>Cothers(1): Show | BAP1 Adipose_Subcutaneous 3.516 -0.265 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG00741.hp2 | 0.011 | 15 | 15 | 10 | chr3_51989321_T_C_b38 | + | MODIFIER | chr3 | T | C | TogoVar |
| 51982820:splice 51982820:variant goto | ACY1upstream_gene_variantc.-788C>T | TEX264 Artery_Tibial 3.413 0.255 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
0.021 | 28 | 29 | 10 | chr3_51982820_C_T_b38 | + | MODIFIER | chr3 | C | T | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | ITIH4 Artery_Tibial 3.413 0.516 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.020 | 26 | 27 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51981220:splice 51981220:variant goto | ACY1upstream_gene_variantc.-2388T>C | RAD54L2 Cells_Cultured_fibroblasts 6.575 0.374 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG00099.hp2 HG00642.hp2 HG01261.hp2 HG01361.hp1 HG02004.hp1 |
0.029 | 35 | 37 | 10 | chr3_51981220_T_C_b38 | + | MODIFIER | chr3 | T | C | TogoVar |
| 51982820:splice 51982820:variant goto | ACY1upstream_gene_variantc.-788C>T | TEX264 Cells_Cultured_fibroblasts 4.749 0.289 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
0.022 | 27 | 28 | 10 | chr3_51982820_C_T_b38 | + | MODIFIER | chr3 | C | T | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | RRP9 Cells_Cultured_fibroblasts 5.535 -0.167 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.019 | 25 | 25 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | RRP9 Cells_EBV-transformed_lymphocytes 8.158 -0.349 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.023 | 14 | 15 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | RRP9 Esophagus_Mucosa 3.562 -0.195 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.021 | 25 | 26 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | ITIH4 Lung 5.181 0.546 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.024 | 28 | 29 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | DNAH1 Muscle_Skeletal 3.297 0.272 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.020 | 31 | 32 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51982820:splice 51982820:variant goto | ACY1upstream_gene_variantc.-788C>T | TEX264 Nerve_Tibial 3.169 0.259 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
0.022 | 29 | 30 | 10 | chr3_51982820_C_T_b38 | + | MODIFIER | chr3 | C | T | TogoVar |
| 51982820:splice 51982820:variant goto | ACY1upstream_gene_variantc.-788C>T | GRM2 Nerve_Tibial 4.541 0.325 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
0.022 | 29 | 30 | 10 | chr3_51982820_C_T_b38 | + | MODIFIER | chr3 | C | T | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | ABHD14A Ovary 3.957 0.550 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.018 | 7 | 7 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51982820:splice 51982820:variant goto | ACY1upstream_gene_variantc.-788C>T | GRM2 Testis 4.024 0.368 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
0.018 | 14 | 15 | 10 | chr3_51982820_C_T_b38 | + | MODIFIER | chr3 | C | T | TogoVar |
| 51982820:splice 51982820:variant goto | ACY1upstream_gene_variantc.-788C>T | IQCF6 Testis 3.558 -0.262 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01106.hp2 HG01496.hp1 homoSapiens_chm13v2.hp1 |
0.018 | 14 | 15 | 10 | chr3_51982820_C_T_b38 | + | MODIFIER | chr3 | C | T | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | TLR9 Thyroid 4.475 -0.316 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.022 | 29 | 30 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | PPM1M Thyroid 3.450 -0.244 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.022 | 29 | 30 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51991368:splice 51991368:variant goto | ACY1downstream_gene_variantc.*2293G>Aothers(2): Show | PPM1M Vagina 4.340 -0.740 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG01261.hp1 NA20752.hp2 |
0.015 | 5 | 5 | 10 | chr3_51991368_G_A_b38 | + | MODIFIER | chr3 | G | A | TogoVar |
| 51981315:splice 51981315:variant goto | ACY1upstream_gene_variantc.-2293C>G | GLYCTK Whole_Blood 3.720 -0.367 | 1111 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | HG00741.hp2 | 0.012 | 20 | 20 | 10 | chr3_51981315_C_G_b38 | + | MODIFIER | chr3 | C | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | TEX264 Adipose_Subcutaneous 5.232 0.122 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.313 | 364 | 445 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | PCBP4 Brain_Cerebellar_Hemisphere 4.736 -0.138 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.332 | 148 | 183 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | PCBP4 Brain_Cerebellum 4.648 -0.187 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.333 | 140 | 176 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | ABHD14A Brain_Spinal_cord_cervical_c-1 4.592 0.148 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.352 | 112 | 143 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | POC1A Cells_Cultured_fibroblasts 3.140 -0.046 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.324 | 344 | 421 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | TEX264 Esophagus_Gastroesophageal_Junction 3.823 0.122 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.313 | 204 | 252 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | ABHD14A Esophagus_Muscularis 3.678 0.072 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.310 | 286 | 348 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | TEX264 Nerve_Tibial 4.523 0.107 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.312 | 346 | 416 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | PCBP4 Nerve_Tibial 8.769 -0.104 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.312 | 346 | 416 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | RPL29 Nerve_Tibial 4.729 0.062 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.312 | 346 | 416 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | NT5DC2 Skin_Sun_Exposed_Lower_leg 3.847 0.084 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.319 | 394 | 479 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | IQCF6 Testis 3.783 -0.080 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.308 | 207 | 254 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |
| 51979867:splice 51979867:variant goto | ACY1upstream_gene_variantc.-3741A>G | ABHD14A Thyroid 3.441 0.056 | 22310 | a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0003a0005c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0019others(5): Show | HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
0.312 | 350 | 425 | 10 | chr3_51979867_A_G_b38 | + | MODIFIER | chr3 | A | G | TogoVar |