Joint Open Genome and Omics Platform (JoGo)

Search by Genic region

geneid	8209
ensemblid	ENSG00000160221.18
hgncid	1273
symbol	GATD3
name	glutamine amidotransferase class 1 domain containing 3
refseq_nuc	NM_004649.8
refseq_prot	NP_004640.4
ensembl_nuc	ENST00000291577.11
ensembl_prot	ENSP00000291577.6
mane_status	MANE Select
chr	chr21
start	44133683
end	44145711
strand	+
ver	v1.2
region	chr21:44133683-44145711
region5000	chr21:44128683-44150711
regionname0	GATD3_chr21_44133683_44145711
regionname5000	GATD3_chr21_44128683_44150711

ahapid	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	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	268	34	24	5	5	0	0	3	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0002	0/0	268	20	14	3	3	0	0	1	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711

chapid	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	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
c0001	0/0	807	34	24	5	5	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
c0002	0/0	807	20	14	3	3	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711

thapid	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	tlen	total	AFR	AMR	EAS	regionname	genename	tseq	chr	start	end
t0001	0/0	778	32	23	4	5	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
t0002	0/0	777	7	7	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
t0003	0/0	778	7	7	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
t0004	0/0	773	4	0	2	2	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
t0005	0/0	778	2	1	1	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
t0006	0/0	773	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
t0007	0/0	777	1	0	0	1	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711

ghapid	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	total	AFR	AMR	EAS	regionname	genename	chr	start	end
g0001	0/0	8	8	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0002	0/0	6	0	2	4	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0003	0/0	5	1	2	2	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0004	0/0	5	5	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0005	0/0	4	3	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0006	0/0	3	3	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0007	0/0	2	2	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0008	0/0	2	2	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0009	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0010	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0011	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0012	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0013	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0014	0/0	1	0	0	1	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0015	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0016	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0017	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0018	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0019	0/0	1	0	0	1	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0020	0/0	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0021	0/0	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0022	0/0	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0023	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0024	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0025	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0026	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
g0027	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711

achapid	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	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	807	34	24	5	5	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0002c0002	0/0	807	20	14	3	3	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	1584	32	23	4	5	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0001c0001t0005	0/0	1584	2	1	1	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0002c0002t0002	0/0	1583	7	7	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0002c0002t0003	0/0	1584	7	7	0	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0002c0002t0004	0/0	1579	4	0	2	2	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0002c0002t0006	0/0	1579	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711
a0002c0002t0007	0/0	1583	1	0	0	1	GATD3_chr21_44128683_44150711	GATD3	copy fasta	chr21	44128683	44150711

actghapid	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	total	AFR	AMR	EAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	8	8	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0002	0/0	6	0	2	4	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0005	0/0	4	3	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0006	0/0	3	3	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0013	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0014	0/0	1	0	0	1	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0015	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0016	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0017	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0018	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0022	0/0	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0023	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0024	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0025	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0001g0026	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0005g0009	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0001c0001t0005g0020	0/0	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0002g0003	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0002g0004	0/0	5	5	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0002g0027	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0003g0007	0/0	2	2	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0003g0008	0/0	2	2	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0003g0010	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0003g0011	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0003g0012	0/0	1	1	0	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0004g0003	0/0	3	0	1	2	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0004g0021	0/0	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0006g0003	0/0	1	0	1	0	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
a0002c0002t0007g0019	0/0	1	0	0	1	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG01081	hp1	a0001	c0001	t0001	g0005	AMR	PUR	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG01081	hp2	a0001	c0001	t0005	g0020	AMR	PUR	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG01358	hp1	a0002	c0002	t0004	g0003	AMR	CLM	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG01358	hp2	a0001	c0001	t0001	g0002	AMR	CLM	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02148	hp1	a0002	c0002	t0004	g0021	AMR	PEL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02148	hp2	a0001	c0001	t0001	g0002	AMR	PEL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02155	hp1	a0001	c0001	t0001	g0002	EAS	CDX	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02155	hp2	a0002	c0002	t0004	g0003	EAS	CDX	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02257	hp1	a0001	c0001	t0001	g0001	AFR	ACB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02257	hp2	a0002	c0002	t0002	g0004	AFR	ACB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02280	hp1	a0001	c0001	t0001	g0001	AFR	ACB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02280	hp2	a0002	c0002	t0003	g0012	AFR	ACB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02300	hp1	a0001	c0001	t0001	g0022	AMR	PEL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02300	hp2	a0002	c0002	t0006	g0003	AMR	PEL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02630	hp1	a0001	c0001	t0001	g0001	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02630	hp2	a0001	c0001	t0001	g0023	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02717	hp1	a0002	c0002	t0003	g0008	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02717	hp2	a0001	c0001	t0001	g0015	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02723	hp1	a0001	c0001	t0001	g0006	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02723	hp2	a0001	c0001	t0001	g0005	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02809	hp1	a0002	c0002	t0002	g0004	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02809	hp2	a0001	c0001	t0001	g0005	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02886	hp1	a0001	c0001	t0001	g0024	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02886	hp2	a0001	c0001	t0001	g0001	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02922	hp1	a0001	c0001	t0001	g0001	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02922	hp2	a0002	c0002	t0002	g0027	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02965	hp1	a0002	c0002	t0003	g0007	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02965	hp2	a0001	c0001	t0001	g0018	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02976	hp1	a0002	c0002	t0002	g0004	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02976	hp2	a0001	c0001	t0001	g0026	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03130	hp1	a0001	c0001	t0001	g0001	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03130	hp2	a0001	c0001	t0001	g0017	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03139	hp1	a0002	c0002	t0003	g0008	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03139	hp2	a0001	c0001	t0001	g0025	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03195	hp1	a0001	c0001	t0001	g0001	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03195	hp2	a0001	c0001	t0001	g0016	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03209	hp1	a0001	c0001	t0001	g0006	AFR	MSL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03209	hp2	a0001	c0001	t0005	g0009	AFR	MSL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03453	hp1	a0002	c0002	t0002	g0004	AFR	MSL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03453	hp2	a0001	c0001	t0001	g0013	AFR	MSL	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03516	hp1	a0002	c0002	t0002	g0003	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03516	hp2	a0002	c0002	t0002	g0004	AFR	ESN	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03540	hp1	a0001	c0001	t0001	g0006	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG03540	hp2	a0002	c0002	t0003	g0011	AFR	GWD	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA18612	hp1	a0002	c0002	t0004	g0003	EAS	CHB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA18612	hp2	a0001	c0001	t0001	g0002	EAS	CHB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA19043	hp1	a0002	c0002	t0003	g0007	AFR	LWK	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA19043	hp2	a0001	c0001	t0001	g0001	AFR	LWK	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA19058	hp1	a0001	c0001	t0001	g0002	EAS	JPT	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA19058	hp2	a0002	c0002	t0007	g0019	EAS	JPT	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA19087	hp1	a0001	c0001	t0001	g0014	EAS	JPT	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
NA19087	hp2	a0001	c0001	t0001	g0002	EAS	JPT	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02559	hp1	a0001	c0001	t0001	g0005	AFR	ACB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711
HG02559	hp2	a0002	c0002	t0003	g0010	AFR	ACB	GATD3_chr21_44128683_44150711	GATD3	chr21	44128683	44150711

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
chr21:44144884	C C	G G	1	a0002 a0002	20	HG01358.hp1 HG02148.hp1 HG02155.hp2 others(17): Show HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	missense_variant	MODERATE	c.742C>G c.742C>G	p.Leu248Val p.Leu248Val	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	7/7	757/1584	742/807	248/268			chr21	44144884

chr:pos	ref	alt	# # of chapid	chapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	pos
chr21:44145049	CT CT	C C	4	a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 others(1): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007	13	HG01358.hp1 HG02148.hp1 HG02155.hp2 others(10): Show HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02300.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 NA18612.hp1 NA19058.hp2	3_prime_UTR_variant	MODIFIER	c.112delT c.112delT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	7/7	112	INFO_REALIGN_3_PRIME	chr21	44145049
chr21:44145133	G G	T T	1	a0002c0002t0007 a0002c0002t0007	1	NA19058.hp2 NA19058.hp2	3_prime_UTR_variant	MODIFIER	c.184G>T c.184G>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	7/7	184		chr21	44145133
chr21:44145258	C C	T T	1	a0002c0002t0006 a0002c0002t0006	1	HG02300.hp2 HG02300.hp2	3_prime_UTR_variant	MODIFIER	c.309C>T c.309C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	7/7	309		chr21	44145258
chr21:44145280	GGTTA GGTTA	G G	2	a0002c0002t0004 a0002c0002t0006 a0002c0002t0004 a0002c0002t0006	5	HG01358.hp1 HG02148.hp1 HG02155.hp2 others(2): Show HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02300.hp2 NA18612.hp1	3_prime_UTR_variant	MODIFIER	c.339_342delAGTT c.339_342delAGTT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	7/7	339	INFO_REALIGN_3_PRIME	chr21	44145280
chr21:44145591	C C	T T	6	a0001c0001t0005 a0002c0002t0002 a0002c0002t0003 others(3): Show a0001c0001t0005 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007	22	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	3_prime_UTR_variant	MODIFIER	c.642C>T c.642C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	7/7	642		chr21	44145591
chr21:44145679	G G	A A	1	a0002c0002t0003 a0002c0002t0003	7	HG02280.hp2 HG02559.hp2 HG02717.hp1 others(4): Show HG02280.hp2 HG02559.hp2 HG02717.hp1 HG02965.hp1 HG03139.hp1 HG03540.hp2 NA19043.hp1	3_prime_UTR_variant	MODIFIER	c.730G>A c.730G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	7/7	730		chr21	44145679

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	status	chr	pos
chr21:44133921	C C	T T	2	a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0002g0004 a0002c0002t0002g0027	6	HG02257.hp2 HG02809.hp1 HG02922.hp2 others(3): Show HG02257.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp2	intron_variant	MODIFIER	c.141+83C>T c.141+83C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	1/6		chr21	44133921
chr21:44134225	C C	G G	1	a0001c0001t0001g0026 a0001c0001t0001g0026	1	HG02976.hp2 HG02976.hp2	intron_variant	MODIFIER	c.194+71C>G c.194+71C>G	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	2/6		chr21	44134225
chr21:44135212	G G	A A	1	a0001c0001t0005g0009 a0001c0001t0005g0009	1	HG03209.hp2 HG03209.hp2	intron_variant	MODIFIER	c.195-848G>A c.195-848G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	2/6		chr21	44135212
chr21:44135389	C C	T T	2	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0024 a0001c0001t0001g0025	2	HG02886.hp1 HG03139.hp2 HG02886.hp1 HG03139.hp2	intron_variant	MODIFIER	c.195-671C>T c.195-671C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	2/6		chr21	44135389
chr21:44135999	G G	T T	1	a0001c0001t0001g0023 a0001c0001t0001g0023	1	HG02630.hp2 HG02630.hp2	intron_variant	MODIFIER	c.195-61G>T c.195-61G>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	2/6		chr21	44135999
chr21:44136053	C C	T T	1	a0001c0001t0001g0022 a0001c0001t0001g0022	1	HG02300.hp1 HG02300.hp1	splice_region_variant&intron_variant	LOW	c.195-7C>T c.195-7C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	2/6		chr21	44136053
chr21:44136275	C C	A A	5	a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 others(2): Show a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012	7	HG02280.hp2 HG02559.hp2 HG02717.hp1 others(4): Show HG02280.hp2 HG02559.hp2 HG02717.hp1 HG02965.hp1 HG03139.hp1 HG03540.hp2 NA19043.hp1	intron_variant	MODIFIER	c.308+102C>A c.308+102C>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	3/6		chr21	44136275
chr21:44136304	A A	G G	16	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0005g0009 others(13): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	24	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(21): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	intron_variant	MODIFIER	c.308+131A>G c.308+131A>G	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	3/6		chr21	44136304
chr21:44136558	T T	C C	1	a0001c0001t0001g0024 a0001c0001t0001g0024	1	HG02886.hp1 HG02886.hp1	intron_variant	MODIFIER	c.308+385T>C c.308+385T>C	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	3/6		chr21	44136558
chr21:44137345	G G	A A	2	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	9	HG02257.hp1 HG02280.hp1 HG02630.hp1 others(6): Show HG02257.hp1 HG02280.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp2 NA19043.hp2	intron_variant	MODIFIER	c.428+49G>A c.428+49G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44137345
chr21:44137866	G G	GT GT	7	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(4): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0002c0002t0003g0012 a0002c0002t0004g0021	9	HG02148.hp1 HG02280.hp2 HG02630.hp2 others(6): Show HG02148.hp1 HG02280.hp2 HG02630.hp2 HG02723.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp1	intron_variant	MODIFIER	c.428+585dupT c.428+585dupT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6	INFO_REALIGN_3_PRIME	chr21	44137866
chr21:44137906	T T	C C	3	a0002c0002t0003g0007 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0007 a0002c0002t0003g0010 a0002c0002t0003g0011	4	HG02559.hp2 HG02965.hp1 HG03540.hp2 others(1): Show HG02559.hp2 HG02965.hp1 HG03540.hp2 NA19043.hp1	intron_variant	MODIFIER	c.428+610T>C c.428+610T>C	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44137906
chr21:44138079	C C	T T	2	a0001c0001t0005g0009 a0001c0001t0005g0020 a0001c0001t0005g0009 a0001c0001t0005g0020	2	HG01081.hp2 HG03209.hp2 HG01081.hp2 HG03209.hp2	intron_variant	MODIFIER	c.428+783C>T c.428+783C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44138079
chr21:44138123	T T	C C	29	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	54	HG01081.hp1 HG01081.hp2 HG01358.hp1 others(51): Show HG01081.hp1 HG01081.hp2 HG01358.hp1 HG01358.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18612.hp1 NA18612.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19087.hp1 NA19087.hp2	intron_variant	MODIFIER	c.428+827T>C c.428+827T>C	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44138123
chr21:44139098	C C	T T	1	a0001c0001t0001g0025 a0001c0001t0001g0025	1	HG03139.hp2 HG03139.hp2	intron_variant	MODIFIER	c.429-1152C>T c.429-1152C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44139098
chr21:44139579	G G	A A	1	a0001c0001t0001g0016 a0001c0001t0001g0016	1	HG03195.hp2 HG03195.hp2	intron_variant	MODIFIER	c.429-671G>A c.429-671G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44139579
chr21:44139652	G G	A A	1	a0001c0001t0001g0023 a0001c0001t0001g0023	1	HG02630.hp2 HG02630.hp2	intron_variant	MODIFIER	c.429-598G>A c.429-598G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44139652
chr21:44139811	A A	G G	14	a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 others(11): Show a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	22	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	intron_variant	MODIFIER	c.429-439A>G c.429-439A>G	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44139811
chr21:44139893	G G	A A	1	a0002c0002t0007g0019 a0002c0002t0007g0019	1	NA19058.hp2 NA19058.hp2	intron_variant	MODIFIER	c.429-357G>A c.429-357G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44139893
chr21:44140164	G G	A A	1	a0001c0001t0001g0017 a0001c0001t0001g0017	1	HG03130.hp2 HG03130.hp2	intron_variant	MODIFIER	c.429-86G>A c.429-86G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	4/6		chr21	44140164
chr21:44140517	G G	C C	29	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	54	HG01081.hp1 HG01081.hp2 HG01358.hp1 others(51): Show HG01081.hp1 HG01081.hp2 HG01358.hp1 HG01358.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18612.hp1 NA18612.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19087.hp1 NA19087.hp2	intron_variant	MODIFIER	c.521+175G>C c.521+175G>C	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44140517
chr21:44140873	G G	A A	8	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0023	22	HG01358.hp2 HG02148.hp2 HG02155.hp1 others(19): Show HG01358.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03540.hp1 NA18612.hp2 NA19043.hp2 NA19058.hp1 NA19087.hp1 NA19087.hp2	intron_variant	MODIFIER	c.521+531G>A c.521+531G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44140873
chr21:44141067	A A	G G	1	a0001c0001t0001g0015 a0001c0001t0001g0015	1	HG02717.hp2 HG02717.hp2	intron_variant	MODIFIER	c.521+725A>G c.521+725A>G	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44141067
chr21:44141942	A A	G G	1	a0001c0001t0001g0014 a0001c0001t0001g0014	1	NA19087.hp1 NA19087.hp1	intron_variant	MODIFIER	c.522-1263A>G c.522-1263A>G	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44141942
chr21:44141972	G G	GT GT	12	a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 others(9): Show a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	16	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(13): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02965.hp1 HG03139.hp1 HG03209.hp2 HG03516.hp1 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	intron_variant	MODIFIER	c.522-1229dupT c.522-1229dupT	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6	INFO_REALIGN_3_PRIME	chr21	44141972
chr21:44141976	T T	TG TG	2	a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0002g0004 a0002c0002t0002g0027	6	HG02257.hp2 HG02809.hp1 HG02922.hp2 others(3): Show HG02257.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03453.hp1 HG03516.hp2	intron_variant	MODIFIER	c.522-1224dupG c.522-1224dupG	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6	INFO_REALIGN_3_PRIME	chr21	44141976
chr21:44141983	G G	A A	1	a0002c0002t0002g0027 a0002c0002t0002g0027	1	HG02922.hp2 HG02922.hp2	intron_variant	MODIFIER	c.522-1222G>A c.522-1222G>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44141983
chr21:44142061	A A	G G	1	a0002c0002t0003g0011 a0002c0002t0003g0011	1	HG03540.hp2 HG03540.hp2	intron_variant	MODIFIER	c.522-1144A>G c.522-1144A>G	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44142061
chr21:44142364	G G	T T	1	a0002c0002t0007g0019 a0002c0002t0007g0019	1	NA19058.hp2 NA19058.hp2	intron_variant	MODIFIER	c.522-841G>T c.522-841G>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44142364
chr21:44142382	A A	C C	1	a0001c0001t0001g0018 a0001c0001t0001g0018	1	HG02965.hp2 HG02965.hp2	intron_variant	MODIFIER	c.522-823A>C c.522-823A>C	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44142382
chr21:44142425	GGGATGGG others(5): Show GGGATGGGGCTGC	G G	1	a0002c0002t0003g0010 a0002c0002t0003g0010	1	HG02559.hp2 HG02559.hp2	intron_variant	MODIFIER	c.522-779_522-768del others(12): Show c.522-779_522-768delGGATGGGGCTGC	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44142425
chr21:44143110	G G	T T	1	a0002c0002t0007g0019 a0002c0002t0007g0019	1	NA19058.hp2 NA19058.hp2	intron_variant	MODIFIER	c.522-95G>T c.522-95G>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	5/6		chr21	44143110
chr21:44143762	C C	T T	2	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	9	HG02257.hp1 HG02280.hp1 HG02630.hp1 others(6): Show HG02257.hp1 HG02280.hp1 HG02630.hp1 HG02886.hp2 HG02922.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp2 NA19043.hp2	intron_variant	MODIFIER	c.678+401C>T c.678+401C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	6/6		chr21	44143762
chr21:44143935	ACCAAGAA others(17): Show ACCAAGAACACCAGCGGGGCTGTTG	A A	12	a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 others(9): Show a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	20	HG01358.hp1 HG02148.hp1 HG02155.hp2 others(17): Show HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	intron_variant	MODIFIER	c.678+577_678+600del others(24): Show c.678+577_678+600delAAGAACACCAGCGGGGCTGTTGCC	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	6/6	INFO_REALIGN_3_PRIME	chr21	44143935
chr21:44144178	A A	G G	15	a0001c0001t0001g0013 a0001c0001t0005g0009 a0001c0001t0005g0020 others(12): Show a0001c0001t0001g0013 a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	23	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(20): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	intron_variant	MODIFIER	c.679-643A>G c.679-643A>G	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	6/6		chr21	44144178
chr21:44144179	T T	C C	1	a0002c0002t0007g0019 a0002c0002t0007g0019	1	NA19058.hp2 NA19058.hp2	intron_variant	MODIFIER	c.679-642T>C c.679-642T>C	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	6/6		chr21	44144179
chr21:44144184	C C	T T	1	a0002c0002t0003g0012 a0002c0002t0003g0012	1	HG02280.hp2 HG02280.hp2	intron_variant	MODIFIER	c.679-637C>T c.679-637C>T	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	6/6		chr21	44144184
chr21:44144185	T T	C C	1	a0002c0002t0003g0012 a0002c0002t0003g0012	1	HG02280.hp2 HG02280.hp2	intron_variant	MODIFIER	c.679-636T>C c.679-636T>C	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	6/6		chr21	44144185
chr21:44144578	T T	A A	14	a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 others(11): Show a0001c0001t0005g0009 a0001c0001t0005g0020 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0027 a0002c0002t0003g0007 a0002c0002t0003g0008 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0004g0003 a0002c0002t0004g0021 a0002c0002t0006g0003 a0002c0002t0007g0019	22	HG01081.hp2 HG01358.hp1 HG02148.hp1 others(19): Show HG01081.hp2 HG01358.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 NA18612.hp1 NA19043.hp1 NA19058.hp2	intron_variant	MODIFIER	c.679-243T>A c.679-243T>A	GATD3	ENSG00000160221.18	transcript	ENST00000291577.11	protein_coding	6/6		chr21	44144578

Search by Genic region

Search

🧬 JoGo Online Haplotype Explorer GATD3_chr21_44128683_44150711

JoGo Local Haplotype Explorer (on iGV) GATD3_chr21_44128683_44150711

Translation Multiple Alignment View

🧬 Gene Summary

AAmino acid(protein) Level Haplotype Info (Total: 2)

CCoding Level Haplotype Info (Total: 2)

TTranscript Level Haplotype Info (Total: 7)

GGenebody Level Haplotype Info (Total: 27)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 2)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 7)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 29)

Haplotype Details by Sample (Haploid Level) (Total: 54)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 1)

CCoding Level Variants (Synonymous Mutations) (Total: 0)

TTranscript Level Haplotype Variants (5'UTR+3'UTR) (Total: 6)

GGenebody Level Haplotype Variants (Intron) (Total: 39)

External Link

Annotation (Repeats)

Annotation (SNP Array)