JoGo: Joint Open Genome and Omics Platform

Haplotype Detail Info [AARS1_chr16_70247298_70294506>a0001c0003]

geneid	16
ensemblid	ENSG00000090861.17
hgncid	20
symbol	AARS1
name	alanyl-tRNA synthetase 1
refseq_nuc	NM_001605.3
refseq_prot	NP_001596.2
ensembl_nuc	ENST00000261772.13
ensembl_prot	ENSP00000261772.8
mane_status	MANE Select
chr	chr16
start	70252298
end	70289506
strand	-
ver	v1.2
region	chr16:70252298-70289506
region5000	chr16:70247298-70294506
regionname0	AARS1_chr16_70252298_70289506
regionname5000	AARS1_chr16_70247298_70294506

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

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	ahapid	alen	total	AFR	AMR	EAS	EUR	SAS	aseq	chr	start	end
AARS1	1/1	a0001	968	325	52	72	147	14	38	subcellular location copy fasta	chr16	70247298	70294506

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	chapid	clen	total	AFR	AMR	EAS	EUR	SAS	cseq	chr	start	end
AARS1	1/0	c0003	2907	36	1	15	6	4	9	copy fasta	chr16	70247298	70294506

genename	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	achapid	total	AFR	AMR	EAS	EUR	SAS	clen	cseq	chr	start	end
AARS1	1/0	a0001c0003	36	1	15	6	4	9	2907	copy fasta	chr16	70247298	70294506

pos	S. Strand	E# Exon Number	max	median	min	diff	type	haplotypeid	max_hap_list	min_hap_list	symbol	chr	start	end
70282620	-	2	-0.9996	-0.9996	-0.9996	0.0001	acceptor	a0001c0003	HG00099.hp1 HG01433.hp1 HG03490.hp1 NA20905.hp1 homoSapiens_grch38.hp1 HG00099.hp1 HG01433.hp1 HG03490.hp1 NA20905.hp1 homoSapiens_grch38.hp1	NA18943.hp2 NA18943.hp2	AARS1	chr16	70247298	70294506
70282784	-	2	0.9987	0.9987	0.9986	0.0001	donor	a0001c0003	HG01433.hp1 homoSapiens_grch38.hp1 HG01433.hp1 homoSapiens_grch38.hp1	HG02148.hp1 NA18946.hp2 HG02148.hp1 NA18946.hp2	AARS1	chr16	70247298	70294506
70276966	-	3	-0.9993	-0.9993	-0.9992	0.0000	acceptor	a0001c0003	HG01993.hp2 HG02735.hp2 HG01993.hp2 HG02735.hp2	HG02148.hp1 HG02148.hp1	AARS1	chr16	70247298	70294506
70277154	-	3	0.9955	0.9951	0.9947	0.0008	donor	a0001c0003	NA18943.hp2 NA18943.hp2	HG00099.hp1 HG00099.hp1	AARS1	chr16	70247298	70294506
70276486	-	4	-0.9979	-0.9978	-0.9974	0.0005	acceptor	a0001c0003	HG01943.hp1 HG01943.hp1	HG01993.hp2 HG01993.hp2	AARS1	chr16	70247298	70294506
70276631	-	4	0.9986	0.9984	0.9983	0.0003	donor	a0001c0003	HG00099.hp1 HG00099.hp1	HG04199.hp1 HG04199.hp1	AARS1	chr16	70247298	70294506
70271781	-	5	-0.9972	-0.9971	-0.9968	0.0003	acceptor	a0001c0003	NA20752.hp2 NA20752.hp2	NA20905.hp1 NA20905.hp1	AARS1	chr16	70247298	70294506
70271972	-	5	0.9965	0.9962	0.9955	0.0010	donor	a0001c0003	HG04228.hp1 HG04228.hp1	NA18946.hp2 NA18946.hp2	AARS1	chr16	70247298	70294506
70270196	-	6	-0.9695	-0.9667	-0.9665	0.0031	acceptor	a0001c0003	HG01943.hp1 HG01943.hp1	HG01496.hp1 HG03017.hp2 HG01496.hp1 HG03017.hp2	AARS1	chr16	70247298	70294506
70270340	-	6	0.8113	0.8044	0.8027	0.0087	donor	a0001c0003	HG01943.hp1 HG01943.hp1	NA20905.hp1 NA20905.hp1	AARS1	chr16	70247298	70294506
70269618	-	7	-0.9989	-0.9989	-0.9987	0.0002	acceptor	a0001c0003	HG00642.hp1 HG01255.hp2 HG01433.hp1 HG02148.hp1 NA18943.hp2 others(1): Show HG00642.hp1 HG01255.hp2 HG01433.hp1 HG02148.hp1 NA18943.hp2 NA20300.hp2	HG02735.hp2 HG02735.hp2	AARS1	chr16	70247298	70294506
70269763	-	7	0.9972	0.9970	0.9965	0.0006	donor	a0001c0003	HG02735.hp2 HG02735.hp2	HG01943.hp1 HG01943.hp1	AARS1	chr16	70247298	70294506
70268271	-	8	-0.9971	-0.9970	-0.9968	0.0003	acceptor	a0001c0003	HG03490.hp1 HG03490.hp1	HG00642.hp1 HG01255.hp2 HG01433.hp1 HG02148.hp1 NA18943.hp2 others(1): Show HG00642.hp1 HG01255.hp2 HG01433.hp1 HG02148.hp1 NA18943.hp2 NA20300.hp2	AARS1	chr16	70247298	70294506
70268379	-	8	0.9932	0.9931	0.9924	0.0008	donor	a0001c0003	HG02698.hp2 HG02698.hp2	HG00099.hp1 HG00639.hp1 HG00733.hp2 HG01496.hp1 HG01515.hp1 others(4): Show HG00099.hp1 HG00639.hp1 HG00733.hp2 HG01496.hp1 HG01515.hp1 HG01993.hp2 HG03017.hp2 NA18978.hp1 NA20905.hp1	AARS1	chr16	70247298	70294506
70267659	-	9	-0.9993	-0.9993	-0.9993	0.0000	acceptor	a0001c0003	HG01943.hp1 HG03490.hp1 NA20752.hp2 HG01943.hp1 HG03490.hp1 NA20752.hp2	HG03017.hp1 HG03017.hp1	AARS1	chr16	70247298	70294506
70267809	-	9	0.9986	0.9985	0.9985	0.0000	donor	a0001c0003	HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01516.hp1 HG01928.hp2 others(11): Show HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG02165.hp1 HG02273.hp1 HG02698.hp2 HG03831.hp1 HG04199.hp1 HG04228.hp1 NA18944.hp1 NA18946.hp2 NA19065.hp1 homoSapiens_grch38.hp1	HG00099.hp1 HG00639.hp1 HG00733.hp2 HG01496.hp1 HG01515.hp1 others(5): Show HG00099.hp1 HG00639.hp1 HG00733.hp2 HG01496.hp1 HG01515.hp1 HG01993.hp2 HG02735.hp2 HG03017.hp2 NA18978.hp1 NA20905.hp1	AARS1	chr16	70247298	70294506
70265538	-	10	-0.9982	-0.9980	-0.9979	0.0002	acceptor	a0001c0003	HG03017.hp1 HG03017.hp1	HG01943.hp1 HG01943.hp1	AARS1	chr16	70247298	70294506
70265662	-	10	0.9985	0.9984	0.9984	0.0001	donor	a0001c0003	HG03017.hp1 HG03017.hp1	HG01943.hp1 HG01943.hp1	AARS1	chr16	70247298	70294506
70264958	-	11	-0.9973	-0.9972	-0.9971	0.0002	acceptor	a0001c0003	HG04228.hp1 HG04228.hp1	NA19065.hp1 NA19065.hp1	AARS1	chr16	70247298	70294506
70265102	-	11	0.9939	0.9937	0.9936	0.0003	donor	a0001c0003	NA19065.hp1 NA19065.hp1	HG03831.hp1 HG03831.hp1	AARS1	chr16	70247298	70294506
70262346	-	12	-0.9915	-0.9912	-0.9909	0.0006	acceptor	a0001c0003	HG01943.hp1 HG01943.hp1	HG03831.hp1 HG03831.hp1	AARS1	chr16	70247298	70294506
70262524	-	12	0.9877	0.9864	0.9850	0.0027	donor	a0001c0003	HG00741.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp1 others(8): Show HG00741.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp1 HG02273.hp1 HG02735.hp2 HG04199.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18978.hp1 homoSapiens_grch38.hp1	HG01943.hp1 HG01943.hp1	AARS1	chr16	70247298	70294506
70261044	-	13	-0.9946	-0.9937	-0.9935	0.0010	acceptor	a0001c0003	HG03831.hp1 HG03831.hp1	HG00741.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp1 others(8): Show HG00741.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp1 HG02273.hp1 HG02735.hp2 HG04199.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18978.hp1 homoSapiens_grch38.hp1	AARS1	chr16	70247298	70294506
70261157	-	13	0.9965	0.9965	0.9962	0.0003	donor	a0001c0003	HG01496.hp1 HG02698.hp2 HG01496.hp1 HG02698.hp2	HG03831.hp1 HG03831.hp1	AARS1	chr16	70247298	70294506
70258980	-	14	-0.9889	-0.9882	-0.9879	0.0010	acceptor	a0001c0003	NA18978.hp1 NA18978.hp1	HG02698.hp2 HG02698.hp2	AARS1	chr16	70247298	70294506
70259186	-	14	0.9893	0.9881	0.9878	0.0015	donor	a0001c0003	NA18978.hp1 NA18978.hp1	HG02698.hp2 HG02698.hp2	AARS1	chr16	70247298	70294506
70258033	-	15	-0.8785	-0.8711	-0.8711	0.0074	acceptor	a0001c0003	HG02698.hp2 HG02698.hp2	HG03831.hp1 HG03831.hp1	AARS1	chr16	70247298	70294506
70258217	-	15	0.9154	0.9076	0.9030	0.0124	donor	a0001c0003	NA18978.hp1 NA18978.hp1	HG02698.hp2 HG02698.hp2	AARS1	chr16	70247298	70294506
70255728	-	16	-0.9980	-0.9979	-0.9978	0.0001	acceptor	a0001c0003	NA18978.hp1 NA18978.hp1	HG01433.hp1 NA18943.hp2 NA18944.hp1 HG01433.hp1 NA18943.hp2 NA18944.hp1	AARS1	chr16	70247298	70294506
70255836	-	16	0.9955	0.9953	0.9947	0.0008	donor	a0001c0003	NA18978.hp1 NA18978.hp1	HG01433.hp1 NA18943.hp2 NA18944.hp1 HG01433.hp1 NA18943.hp2 NA18944.hp1	AARS1	chr16	70247298	70294506
70254621	-	17	-0.9966	-0.9966	-0.9965	0.0001	acceptor	a0001c0003	HG02698.hp2 HG02698.hp2	HG01433.hp1 NA18943.hp2 NA18944.hp1 HG01433.hp1 NA18943.hp2 NA18944.hp1	AARS1	chr16	70247298	70294506
70254734	-	17	0.9973	0.9973	0.9973	0.0000	donor	a0001c0003	HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 others(27): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp1 NA18946.hp2 NA19065.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_grch38.hp1	HG01433.hp1 NA18943.hp2 NA18944.hp1 HG01433.hp1 NA18943.hp2 NA18944.hp1	AARS1	chr16	70247298	70294506
70253919	-	18	-0.9989	-0.9989	-0.9989	0.0000	acceptor	a0001c0003	HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 others(28): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03831.hp1 HG04199.hp1 HG04228.hp1 NA18946.hp2 NA18978.hp1 NA19065.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_grch38.hp1	HG01433.hp1 NA18943.hp2 NA18944.hp1 HG01433.hp1 NA18943.hp2 NA18944.hp1	AARS1	chr16	70247298	70294506
70254038	-	18	0.9980	0.9980	0.9980	0.0000	donor	a0001c0003	HG01433.hp1 NA18943.hp2 NA18944.hp1 HG01433.hp1 NA18943.hp2 NA18944.hp1	HG03831.hp1 HG03831.hp1	AARS1	chr16	70247298	70294506
70253714	-	19	-0.7644	-0.7633	-0.7630	0.0013	acceptor	a0001c0003	HG01433.hp1 NA18944.hp1 HG01433.hp1 NA18944.hp1	HG01496.hp1 HG01496.hp1	AARS1	chr16	70247298	70294506
70253800	-	19	0.9979	0.9979	0.9978	0.0001	donor	a0001c0003	HG01496.hp1 HG01496.hp1	HG01433.hp1 NA18944.hp1 HG01433.hp1 NA18944.hp1	AARS1	chr16	70247298	70294506
70253268	-	20	-0.9969	-0.9969	-0.9969	0.0000	acceptor	a0001c0003	NA18943.hp2 NA18943.hp2	HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 others(22): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG01993.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02698.hp2 HG02735.hp2 HG03831.hp1 HG04199.hp1 HG04228.hp1 NA18946.hp2 NA18978.hp1 NA19065.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	AARS1	chr16	70247298	70294506
70253381	-	20	0.9948	0.9948	0.9948	0.0000	donor	a0001c0003	HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 others(21): Show HG00099.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01099.hp2 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG01993.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp1 HG02698.hp2 HG02735.hp2 HG04199.hp1 HG04228.hp1 NA18946.hp2 NA18978.hp1 NA19065.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1	NA18943.hp2 NA18943.hp2	AARS1	chr16	70247298	70294506
70252906	-	21	0.9924	0.9923	0.9922	0.0002	donor	a0001c0003	HG01943.hp1 HG03490.hp1 HG01943.hp1 HG03490.hp1	NA18943.hp2 NA18943.hp2	AARS1	chr16	70247298	70294506

pos	annotation hgvs_c hgvs_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
70282331:splice 70282331:variant goto	c.144+288dupT c.144+288dupT	1241551	Benign	AARS1:16 AARS1:16	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:C3661900 MedGen:C3661900	-	10	17	23	315	a0001 a0002 a0003 a0004 a0005 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0001c0016 a0002c0004 a0003c0005 a0004c0006 a0005c0009 a0006c0018 a0007c0015 a0008c0011 a0010c0014 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0007t0001 a0001c0010t0001 a0001c0012t0001 a0001c0013t0001 a0001c0016t0001 a0002c0004t0001 a0003c0005t0001 a0004c0006t0001 a0005c0009t0001 a0006c0018t0001 a0007c0015t0001 a0008c0011t0001 a0010c0014t0001 a0011c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(310): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0243 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0330 a0001c0001t0006g0054 a0001c0001t0007g0334 a0001c0001t0008g0261 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0319 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0360 a0001c0002t0003g0322 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0160 a0001c0003t0001g0181 a0001c0003t0001g0215 a0001c0003t0001g0269 a0001c0003t0001g0270 a0001c0003t0001g0281 a0001c0003t0001g0282 a0001c0003t0001g0283 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0297 a0001c0003t0001g0303 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0321 a0001c0003t0001g0328 a0001c0003t0001g0331 a0001c0007t0001g0070 a0001c0007t0001g0092 a0001c0010t0001g0187 a0001c0012t0001g0316 a0001c0013t0001g0086 a0001c0016t0001g0097 a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0003c0005t0001g0320 a0004c0006t0001g0317 a0004c0006t0001g0318 a0005c0009t0001g0336 a0006c0018t0001g0016 a0007c0015t0001g0009 a0008c0011t0001g0203 a0010c0014t0001g0110 a0011c0008t0001g0159	HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(312): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	MODIFIER	chr16	G G	GA GA	TogoVar
70289294:splice 70289294:variant goto	c.-22+127G>A c.-22+127G>A	1187804	Likely_benign	AARS1:16 AARS1:16	SO:0001627 intron_variant SO:0001627 intron_variant	MedGen:C3661900 MedGen:C3661900	-	1	1	1	2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0004 a0001c0003t0001g0005	HG01496.hp1 HG03017.hp2 HG01496.hp1 HG03017.hp2	MODIFIER	chr16	C C	T T	TogoVar
70258221:splice 70258221:variant goto	c.1993-4G>A c.1993-4G>A	508300	Benign/Likely_benign	AARS1:16 AARS1:16	SO:0001627 intron_variant SO:0001627 intron_variant	MONDO:MONDO:0018993 MedGen:C0270914 Orphanet:64746\|MedGen:CN169374 MONDO:MONDO:0018993 MedGen:C0270914 Orphanet:64746\|MedGen:CN169374	-	1	1	1	1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0284	HG02698.hp2 HG02698.hp2	LOW	chr16	C C	T T	TogoVar

CHR:POS	annotation hgvs_c hgvs_p	disease trait -log10p odds 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

pos	genename hgvs_c hgvs_p annotation	tissue expression gene -log10(pval) slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database) The -log10(nominal pvalue) in GTEx database Slope in GTEx database (positive value:alt allele has higher gene expression)	ahapid chapid thapid ghapid ahapid_count chapid_count thapid_count ghapid_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
70289294:splice 70289294:variant goto	AARS1 intron_variant c.-22+127G>A AARS1 intron_variant c.-22+127G>A	WWP2 Brain_Cortex 3.752 -0.846	1 1 1 2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0004 a0001c0003t0001g0005	HG01496.hp1 HG03017.hp2 HG01496.hp1 HG03017.hp2	0.009	5	5	10	chr16_70289294_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
70289294:splice 70289294:variant goto	AARS1 intron_variant c.-22+127G>A AARS1 intron_variant c.-22+127G>A	EXOSC6 Skin_Sun_Exposed_Lower_leg 3.587 0.563	1 1 1 2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0004 a0001c0003t0001g0005	HG01496.hp1 HG03017.hp2 HG01496.hp1 HG03017.hp2	0.012	18	18	10	chr16_70289294_C_T_b38	-	MODIFIER	chr16	C C	T T	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18A Adipose_Subcutaneous 6.208 0.704	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.034	47	48	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Adipose_Subcutaneous 5.019 0.475	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.034	47	48	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Adipose_Visceral_Omentum 4.118 0.453	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.028	32	33	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Artery_Aorta 3.679 0.537	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.034	32	32	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18C Artery_Tibial 4.407 -0.515	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.035	47	48	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Artery_Tibial 8.726 0.661	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.035	47	48	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18A Breast_Mammary_Tissue 5.273 0.782	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.031	32	32	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Breast_Mammary_Tissue 5.325 0.585	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.031	32	32	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Cells_Cultured_fibroblasts 5.703 0.354	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.038	48	49	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Esophagus_Gastroesophageal_Junction 3.928 0.532	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.038	30	31	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Heart_Atrial_Appendage 3.655 0.576	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.033	29	30	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18A Lung 4.103 0.581	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.036	42	43	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Lung 3.845 0.375	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.036	42	43	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18A Muscle_Skeletal 4.430 0.491	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.032	51	52	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Muscle_Skeletal 5.634 0.550	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.032	51	52	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18A Nerve_Tibial 3.653 0.540	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.034	45	46	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Nerve_Tibial 5.649 0.559	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.034	45	46	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18A Skin_Sun_Exposed_Lower_leg 4.801 0.552	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.033	48	49	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Skin_Sun_Exposed_Lower_leg 4.536 0.395	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.033	48	49	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	SF3B3 Skin_Sun_Exposed_Lower_leg 4.724 -0.178	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.033	48	49	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	EXOSC6 Testis 3.739 0.336	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.029	24	24	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar
70284167:splice 70284167:variant goto	AARS1 intron_variant c.-21-1383C>T AARS1 intron_variant c.-21-1383C>T	CLEC18A Thyroid 4.322 0.562	2 3 3 4	a0001 a0004 a0001 a0004	a0001c0003 a0001c0012 a0004c0006 a0001c0003 a0001c0012 a0004c0006	a0001c0003t0001 a0001c0012t0001 a0004c0006t0001 a0001c0003t0001 a0001c0012t0001 a0004c0006t0001	a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318 a0001c0003t0001g0269 a0001c0012t0001g0316 a0004c0006t0001g0317 a0004c0006t0001g0318	HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2 HG01192.hp2 HG02683.hp1 HG04204.hp1 NA20752.hp2	0.034	45	46	10	chr16_70284167_G_A_b38	-	MODIFIER	chr16	G G	A A	TogoVar

Haplotype Detail Info [AARS1_chr16_70247298_70294506>a0001c0003]

🧬 Gene Summary

🧬 JoGo Online Haplotype Explorer AARS1_chr16_70247298_70294506

AVariants in Amino-acids (protein) level Haplotype (Total: 0)

CVariants in Coding level Haplotype (Total: 0)

AAmino-acid (protein) Level Haplotype Info (Total: 1)

CCoding Level Haplotype Info (Total: 1)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 1)

📊 HaplotypeQTL Info

⚡ Splicing Related Variants (Total: 39)

🩺 Clinvar Related Variants (Total: 3)

GWASCatalog Related Variants (Total: 0)

GTEx Related Variants (Page 1 of 1 - Total: 24)