Joint Open Genome and Omics Platform (JoGo)

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geneid	728226
ensemblid	ENSG00000274252.1
hgncid	33426
symbol	GGTLC3
name	gamma-glutamyltransferase light chain family member 3
refseq_nuc	NM_001355479.1
refseq_prot	NP_001342408.1
ensembl_nuc	ENST00000619998.1
ensembl_prot	ENSP00000477856.1
mane_status	MANE Select
chr	chr22
start	18516344
end	18518161
strand	-
ver	v1.2
region	chr22:18516344-18518161
region5000	chr22:18511344-18523161
regionname0	GGTLC3_chr22_18516344_18518161
regionname5000	GGTLC3_chr22_18511344_18523161

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	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	225	26	5	7	13	1	11	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0002	0/0	225	3	0	0	3	0	3	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0003	0/0	225	2	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0004	0/0	58	1	0	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0005	0/0	225	1	1	0	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0006	0/0	225	1	1	0	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161

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	SAS	regionname	genename	cseq	chr	start	end
c0001	0/0	678	26	5	7	13	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
c0002	0/0	678	3	0	0	3	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
c0003	0/0	678	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
c0004	0/0	678	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
c0005	0/0	678	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
c0006	0/0	678	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161

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	SAS	regionname	genename	tseq	chr	start	end
t0001	0/0	291	29	6	7	15	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
t0002	0/0	291	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
t0003	0/0	291	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
t0004	0/0	291	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
t0005	0/0	291	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161

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	SAS	regionname	genename	chr	start	end
g0001	0/0	21	2	6	12	1	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0002	0/0	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0003	0/0	2	0	0	2	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0004	0/0	2	2	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0005	0/0	1	0	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0006	0/0	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0007	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0008	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0009	0/0	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0010	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
g0011	0/0	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161

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	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	678	26	5	7	13	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0002c0002	0/0	678	3	0	0	3	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0003c0003	0/0	678	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0004c0006	0/0	678	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0005c0005	0/0	678	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0006c0004	0/0	678	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	968	25	4	7	13	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0001c0001t0004	0/0	968	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0002c0002t0001	0/0	968	2	0	0	2	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0002c0002t0005	0/0	968	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0003c0003t0002	0/0	968	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0004c0006t0003	0/0	968	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0005c0005t0001	0/0	968	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161
a0006c0004t0001	0/0	968	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	copy fasta	chr22	18511344	18523161

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	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	21	2	6	12	1	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0001c0001t0001g0004	0/0	2	2	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0001c0001t0001g0005	0/0	1	0	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0001c0001t0001g0009	0/0	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0001c0001t0004g0010	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0002c0002t0001g0003	0/0	2	0	0	2	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0002c0002t0005g0011	0/0	1	0	0	1	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0003c0003t0002g0002	0/0	2	1	1	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0004c0006t0003g0006	0/0	1	0	0	0	1	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0005c0005t0001g0008	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
a0006c0004t0001g0007	0/0	1	1	0	0	0	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00597	hp1	a0001	c0001	t0001	g0001	EAS	CHS	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG00597	hp2	a0001	c0001	t0001	g0001	EAS	CHS	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG00642	hp1	a0001	c0001	t0001	g0005	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG00642	hp2	a0001	c0001	t0001	g0001	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01243	hp1	a0001	c0001	t0001	g0001	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01243	hp2	a0003	c0003	t0002	g0002	AMR	PUR	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01975	hp1	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01975	hp2	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01993	hp1	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG01993	hp2	a0001	c0001	t0001	g0001	AMR	PEL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02738	hp1	a0001	c0001	t0001	g0001	SAS	PJL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02738	hp2	a0004	c0006	t0003	g0006	SAS	PJL	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02970	hp1	a0001	c0001	t0001	g0004	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02970	hp2	a0006	c0004	t0001	g0007	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02976	hp1	a0001	c0001	t0001	g0001	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG02976	hp2	a0005	c0005	t0001	g0008	AFR	ESN	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG03041	hp1	a0003	c0003	t0002	g0002	AFR	GWD	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
HG03041	hp2	a0001	c0001	t0001	g0004	AFR	GWD	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA18947	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA18947	hp2	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19009	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19009	hp2	a0002	c0002	t0001	g0003	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19011	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19011	hp2	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19056	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19056	hp2	a0001	c0001	t0001	g0009	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19065	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19065	hp2	a0002	c0002	t0001	g0003	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19079	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19079	hp2	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19089	hp1	a0001	c0001	t0001	g0001	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA19089	hp2	a0002	c0002	t0005	g0011	EAS	JPT	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA21309	hp1	a0001	c0001	t0004	g0010	AFR	LWK	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161
NA21309	hp2	a0001	c0001	t0001	g0001	AFR	LWK	GGTLC3_chr22_18511344_18523161	GGTLC3	chr22	18511344	18523161

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	chr	pos
chr22:18516622	C C	T T	1	a0003 a0003	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	missense_variant	MODERATE	c.557G>A c.557G>A	p.Arg186Gln p.Arg186Gln	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	6/6	690/968	557/678	186/225	chr22	18516622
chr22:18517178	C C	G G	1	a0003 a0003	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	missense_variant	MODERATE	c.386G>C c.386G>C	p.Gly129Ala p.Gly129Ala	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/6	519/968	386/678	129/225	chr22	18517178
chr22:18517232	G G	A A	2	a0005 a0006 a0005 a0006	2	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	missense_variant	MODERATE	c.332C>T c.332C>T	p.Pro111Leu p.Pro111Leu	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/6	465/968	332/678	111/225	chr22	18517232
chr22:18517489	G G	T T	1	a0004 a0004	1	HG02738.hp2 HG02738.hp2	stop_gained&splice_region_variant	HIGH	c.177C>A c.177C>A	p.Tyr59* p.Tyr59*	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	3/6	310/968	177/678	59/225	chr22	18517489
chr22:18517759	C C	G G	1	a0006 a0006	1	HG02970.hp2 HG02970.hp2	missense_variant	MODERATE	c.139G>C c.139G>C	p.Gly47Arg p.Gly47Arg	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	2/6	272/968	139/678	47/225	chr22	18517759
chr22:18517803	G G	A A	1	a0004 a0004	1	HG02738.hp2 HG02738.hp2	missense_variant	MODERATE	c.95C>T c.95C>T	p.Pro32Leu p.Pro32Leu	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	2/6	228/968	95/678	32/225	chr22	18517803
chr22:18517825	A A	C C	1	a0002 a0002	3	NA19009.hp2 NA19065.hp2 NA19089.hp2 NA19009.hp2 NA19065.hp2 NA19089.hp2	missense_variant	MODERATE	c.73T>G c.73T>G	p.Tyr25Asp p.Tyr25Asp	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	2/6	206/968	73/678	25/225	chr22	18517825

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
chr22:18516600	T T	C C	4	a0003c0003 a0004c0006 a0005c0005 others(1): Show a0003c0003 a0004c0006 a0005c0005 a0006c0004	5	HG01243.hp2 HG02738.hp2 HG02970.hp2 others(2): Show HG01243.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1	synonymous_variant	LOW	c.579A>G c.579A>G	p.Ala193Ala p.Ala193Ala	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	6/6	712/968	579/678	193/225			chr22	18516600
chr22:18517240	G G	A A	1	a0004c0006 a0004c0006	1	HG02738.hp2 HG02738.hp2	synonymous_variant	LOW	c.324C>T c.324C>T	p.Ser108Ser p.Ser108Ser	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/6	457/968	324/678	108/225			chr22	18517240

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	pos
chr22:18516500	A A	C C	1	a0004c0006t0003 a0004c0006t0003	1	HG02738.hp2 HG02738.hp2	3_prime_UTR_variant	MODIFIER	c.1T>G c.1T>G	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	6/6	1	chr22	18516500
chr22:18518069	T T	A A	1	a0001c0001t0004 a0001c0001t0004	1	NA21309.hp1 NA21309.hp1	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-41A>T c.-41A>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6		chr22	18518069
chr22:18518098	G G	A A	1	a0002c0002t0005 a0002c0002t0005	1	NA19089.hp2 NA19089.hp2	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-70C>T c.-70C>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6		chr22	18518098
chr22:18518141	C C	T T	1	a0003c0003t0002 a0003c0003t0002	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	5_prime_UTR_variant	MODIFIER	c.-113G>A c.-113G>A	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/6	244	chr22	18518141

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	chr	pos
chr22:18516810	T T	C C	1	a0004c0006t0003g0006 a0004c0006t0003g0006	1	HG02738.hp2 HG02738.hp2	intron_variant	MODIFIER	c.531+142A>G c.531+142A>G	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	5/5	chr22	18516810
chr22:18516944	T T	C C	4	a0003c0003t0002g0002 a0004c0006t0003g0006 a0005c0005t0001g0008 others(1): Show a0003c0003t0002g0002 a0004c0006t0003g0006 a0005c0005t0001g0008 a0006c0004t0001g0007	5	HG01243.hp2 HG02738.hp2 HG02970.hp2 others(2): Show HG01243.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1	splice_region_variant&intron_variant	LOW	c.531+8A>G c.531+8A>G	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	5/5	chr22	18516944
chr22:18517090	G G	A A	1	a0003c0003t0002g0002 a0003c0003t0002g0002	2	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	intron_variant	MODIFIER	c.418-25C>T c.418-25C>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	4/5	chr22	18517090
chr22:18517345	A A	G G	5	a0002c0002t0005g0011 a0003c0003t0002g0002 a0004c0006t0003g0006 others(2): Show a0002c0002t0005g0011 a0003c0003t0002g0002 a0004c0006t0003g0006 a0005c0005t0001g0008 a0006c0004t0001g0007	6	HG01243.hp2 HG02738.hp2 HG02970.hp2 others(3): Show HG01243.hp2 HG02738.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp1 NA19089.hp2	intron_variant	MODIFIER	c.304+17T>C c.304+17T>C	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	3/5	chr22	18517345
chr22:18517938	AGGTGGGG others(6): Show AGGTGGGGAGGGAG	A A	3	a0001c0001t0001g0009 a0001c0001t0004g0010 a0004c0006t0003g0006 a0001c0001t0001g0009 a0001c0001t0004g0010 a0004c0006t0003g0006	3	HG02738.hp2 NA19056.hp2 NA21309.hp1 HG02738.hp2 NA19056.hp2 NA21309.hp1	splice_region_variant&intron_variant	LOW	c.-34-20_-34-8delCTC others(10): Show c.-34-20_-34-8delCTCCCTCCCCACC	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18517938
chr22:18517950	AG AG	A A	1	a0001c0001t0001g0004 a0001c0001t0001g0004	2	HG02970.hp1 HG03041.hp2 HG02970.hp1 HG03041.hp2	intron_variant	MODIFIER	c.-34-20delC c.-34-20delC	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18517950
chr22:18518051	C C	A A	4	a0001c0001t0001g0005 a0002c0002t0001g0003 a0002c0002t0005g0011 others(1): Show a0001c0001t0001g0005 a0002c0002t0001g0003 a0002c0002t0005g0011 a0004c0006t0003g0006	5	HG00642.hp1 HG02738.hp2 NA19009.hp2 others(2): Show HG00642.hp1 HG02738.hp2 NA19009.hp2 NA19065.hp2 NA19089.hp2	intron_variant	MODIFIER	c.-35+12G>T c.-35+12G>T	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18518051
chr22:18518059	A A	G G	6	a0001c0001t0001g0005 a0001c0001t0004g0010 a0002c0002t0001g0003 others(3): Show a0001c0001t0001g0005 a0001c0001t0004g0010 a0002c0002t0001g0003 a0002c0002t0005g0011 a0003c0003t0002g0002 a0004c0006t0003g0006	8	HG00642.hp1 HG01243.hp2 HG02738.hp2 others(5): Show HG00642.hp1 HG01243.hp2 HG02738.hp2 HG03041.hp1 NA19009.hp2 NA19065.hp2 NA19089.hp2 NA21309.hp1	splice_region_variant&intron_variant	LOW	c.-35+4T>C c.-35+4T>C	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18518059
chr22:18518062	C C	T T	1	a0001c0001t0004g0010 a0001c0001t0004g0010	1	NA21309.hp1 NA21309.hp1	splice_donor_variant&intron_variant	HIGH	c.-35+1G>A c.-35+1G>A	GGTLC3	ENSG00000274252.1	transcript	ENST00000619998.1	protein_coding	1/5	chr22	18518062

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🧬 JoGo Online Haplotype Explorer GGTLC3_chr22_18511344_18523161

JoGo Local Haplotype Explorer (on iGV) GGTLC3_chr22_18511344_18523161

Translation Multiple Alignment View

🧬 Gene Summary

AAmino acid(protein) Level Haplotype Info (Total: 6)

CCoding Level Haplotype Info (Total: 6)

TTranscript Level Haplotype Info (Total: 5)

GGenebody Level Haplotype Info (Total: 11)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 6)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 8)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 11)

Haplotype Details by Sample (Haploid Level) (Total: 34)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 7)

CCoding Level Variants (Synonymous Mutations) (Total: 2)

TTranscript Level Haplotype Variants (5'UTR+3'UTR) (Total: 4)

GGenebody Level Haplotype Variants (Intron) (Total: 9)

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Annotation (Repeats)

Annotation (SNP Array)