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geneid	117134597
ensemblid	ENSG00000286175.1
hgncid	54843
symbol	FAM246B
name	family with sequence similarity 246 member B
refseq_nuc	NM_001396026.1
refseq_prot	NP_001382955.1
ensembl_nuc	ENST00000652395.1
ensembl_prot	ENSP00000498626.1
mane_status	MANE Select
chr	chr22
start	18633984
end	18634682
strand	+
ver	v1.2
region	chr22:18633984-18634682
region5000	chr22:18628984-18639682
regionname0	FAM246B_chr22_18633984_18634682
regionname5000	FAM246B_chr22_18628984_18639682

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	1/0	232	29	9	5	12	2	10	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0002	0/0	232	3	3	0	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0003	0/0	232	1	0	1	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682

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	1/0	699	28	9	5	11	2	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
c0002	0/0	699	2	2	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
c0003	0/0	699	1	1	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
c0004	0/0	699	1	0	0	1	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
c0005	0/0	699	1	0	1	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682

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	EUR	SAS	regionname	genename	tseq	chr	start	end

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	EUR	SAS	regionname	genename	chr	start	end
g0000	1/0	33	12	6	12	0	2	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682

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	1/0	699	28	9	5	11	2	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0001c0004	0/0	699	1	0	0	1	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0002c0002	0/0	699	2	2	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0002c0003	0/0	699	1	1	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0003c0005	0/0	699	1	0	1	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0000	1/0	699	28	9	5	11	2	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0001c0004t0000	0/0	699	1	0	0	1	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0002c0002t0000	0/0	699	2	2	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0002c0003t0000	0/0	699	1	1	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682
a0003c0005t0000	0/0	699	1	0	1	0	0	FAM246B_chr22_18628984_18639682	FAM246B	copy fasta	chr22	18628984	18639682

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
a0001c0001t0000g0000	1/0	28	9	5	11	2	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
a0001c0004t0000g0000	0/0	1	0	0	1	0	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
a0002c0002t0000g0000	0/0	2	2	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
a0002c0003t0000g0000	0/0	1	1	0	0	0	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
a0003c0005t0000g0000	0/0	1	0	1	0	0	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00597	hp1	a0001	c0001	t0000	g0000	EAS	CHS	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG00597	hp2	a0001	c0001	t0000	g0000	EAS	CHS	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG00642	hp1	a0001	c0001	t0000	g0000	AMR	PUR	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG00642	hp2	a0001	c0001	t0000	g0000	AMR	PUR	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG01243	hp1	a0003	c0005	t0000	g0000	AMR	PUR	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG01243	hp2	a0001	c0001	t0000	g0000	AMR	PUR	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG01975	hp1	a0001	c0001	t0000	g0000	AMR	PEL	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG01975	hp2	a0001	c0001	t0000	g0000	AMR	PEL	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02451	hp1	a0002	c0002	t0000	g0000	AFR	ACB	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02451	hp2	a0001	c0001	t0000	g0000	AFR	ACB	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02622	hp1	a0001	c0001	t0000	g0000	AFR	GWD	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02622	hp2	a0002	c0003	t0000	g0000	AFR	GWD	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02738	hp1	a0001	c0001	t0000	g0000	SAS	PJL	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02738	hp2	a0001	c0001	t0000	g0000	SAS	PJL	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02976	hp1	a0001	c0001	t0000	g0000	AFR	ESN	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02976	hp2	a0001	c0001	t0000	g0000	AFR	ESN	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG03516	hp1	a0001	c0001	t0000	g0000	AFR	ESN	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG03516	hp2	a0001	c0001	t0000	g0000	AFR	ESN	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA18947	hp1	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA18947	hp2	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19011	hp1	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19011	hp2	a0001	c0004	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19066	hp1	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19066	hp2	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19079	hp1	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19079	hp2	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19089	hp1	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA19089	hp2	a0001	c0001	t0000	g0000	EAS	JPT	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02559	hp1	a0002	c0002	t0000	g0000	AFR	ACB	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
HG02559	hp2	a0001	c0001	t0000	g0000	AFR	ACB	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA21309	hp1	a0001	c0001	t0000	g0000	AFR	LWK	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
NA21309	hp2	a0001	c0001	t0000	g0000	AFR	LWK	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682
homoSapiens_grch38	hp1	a0001	c0001	t0000	g0000	REF	REF	FAM246B_chr22_18628984_18639682	FAM246B	chr22	18628984	18639682

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
chr22:18634102	G G	A A	1	a0002 a0002	3	HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2	missense_variant	MODERATE	c.119G>A c.119G>A	p.Arg40Gln p.Arg40Gln	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	119/699	119/699	40/232	chr22	18634102
chr22:18634143	C C	G G	1	a0002 a0002	3	HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2	missense_variant	MODERATE	c.160C>G c.160C>G	p.Arg54Gly p.Arg54Gly	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	160/699	160/699	54/232	chr22	18634143
chr22:18634500	G G	A A	1	a0002 a0002	3	HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2	missense_variant	MODERATE	c.517G>A c.517G>A	p.Ala173Thr p.Ala173Thr	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	517/699	517/699	173/232	chr22	18634500
chr22:18634525	G G	C C	1	a0003 a0003	1	HG01243.hp1 HG01243.hp1	missense_variant	MODERATE	c.542G>C c.542G>C	p.Arg181Pro p.Arg181Pro	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	542/699	542/699	181/232	chr22	18634525
chr22:18634621	C C	T T	1	a0002 a0002	3	HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02451.hp1 HG02559.hp1 HG02622.hp2	missense_variant	MODERATE	c.638C>T c.638C>T	p.Ala213Val p.Ala213Val	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	638/699	638/699	213/232	chr22	18634621

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	chr	pos
chr22:18634058	G G	A A	1	a0002c0003 a0002c0003	1	HG02622.hp2 HG02622.hp2	synonymous_variant	LOW	c.75G>A c.75G>A	p.Thr25Thr p.Thr25Thr	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	75/699	75/699	25/232	chr22	18634058
chr22:18634328	C C	G G	1	a0003c0005 a0003c0005	1	HG01243.hp1 HG01243.hp1	synonymous_variant	LOW	c.345C>G c.345C>G	p.Val115Val p.Val115Val	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	345/699	345/699	115/232	chr22	18634328
chr22:18634664	G G	T T	1	a0001c0004 a0001c0004	1	NA19011.hp2 NA19011.hp2	synonymous_variant	LOW	c.681G>T c.681G>T	p.Pro227Pro p.Pro227Pro	FAM246B	ENSG00000286175.1	transcript	ENST00000652395.1	protein_coding	1/1	681/699	681/699	227/232	chr22	18634664

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

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	genebody_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	pos

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🧬 JoGo Online Haplotype Explorer FAM246B_chr22_18628984_18639682

JoGo Local Haplotype Explorer (on iGV) FAM246B_chr22_18628984_18639682

Translation Multiple Alignment View

ACTG-Haplotype Mutation Positions 3D Viewer

🧬 Gene Summary

AAmino acid(protein) Level Haplotype Info (Total: 3)

CCoding Level Haplotype Info (Total: 5)

TTranscript Level Haplotype Info (Total: 0)

GGenebody Level Haplotype Info (Total: 1)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 5)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 5)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 5)

Haplotype Details by Sample (Haploid Level) (Total: 33)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 5)

CCoding Level Variants (Synonymous Mutations) (Total: 3)

TTranscript Level Haplotype Variants (5'UTR+3'UTR) (Total: 0)

GGenebody Level Haplotype Variants (Intron) (Total: 0)

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Annotation (Repeats)

Annotation (SNP Array)