Joint Open Genome and Omics Platform (JoGo)

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geneid	653282
ensemblid	ENSG00000228517.3
hgncid	33288
symbol	CT47A7
name	cancer/testis antigen family 47 member A7
refseq_nuc	NM_001080140.1
refseq_prot	NP_001073609.1
ensembl_nuc	ENST00000434883.3
ensembl_prot	ENSP00000392283.2
mane_status	MANE Select
chr	chrX
start	120953282
end	120956600
strand	-
ver	v1.2
region	chrX:120953282-120956600
region5000	chrX:120948282-120961600
regionname0	CT47A7_chrX_120953282_120956600
regionname5000	CT47A7_chrX_120948282_120961600

ahapid	grch38/ chm13v2	alen	total	AFR	AMR	EAS	EUR	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	1/0	288	18	2	1	6	2	6	4	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600
a0002	0/0	299	1	0	0	0	1	0	0	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600

chapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
c0001	1/0	867	18	2	1	6	2	6	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600
c0002	0/0	900	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600

thapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
t0001	0/0	428	14	2	1	4	2	5	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600
t0002	1/0	428	5	0	0	2	1	1	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600

ghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
g0001	0/0	4	0	0	0	1	3	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0002	0/0	4	2	1	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0003	1/0	3	0	0	2	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0004	0/0	2	0	0	1	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0005	0/0	2	0	0	2	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0006	0/0	1	0	0	0	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0007	0/0	1	0	0	1	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0008	0/0	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
g0009	0/0	1	0	0	0	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600

achapid	grch38/ chm13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	1/0	867	18	2	1	6	2	6	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600
a0002c0002	0/0	900	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	1294	14	2	1	4	2	5	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600
a0001c0001t0002	1/0	1294	4	0	0	2	0	1	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600
a0002c0002t0002	0/0	1327	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	copy fasta	chrX	120948282	120961600

actghapid	grch38/ chm13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	4	0	0	0	1	3	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0002	0/0	4	2	1	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0004	0/0	2	0	0	1	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0005	0/0	2	0	0	2	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0006	0/0	1	0	0	0	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0001g0007	0/0	1	0	0	1	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0002g0003	1/0	3	0	0	2	0	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0001c0001t0002g0009	0/0	1	0	0	0	0	1	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
a0002c0002t0002g0008	0/0	1	0	0	0	1	0	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00140	hp1	a0002	c0002	t0002	g0008	EUR	GBR	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG00280	hp1	a0001	c0001	t0001	g0002	EUR	FIN	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG00621	hp1	a0001	c0001	t0001	g0005	EAS	CHS	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG01358	hp1	a0001	c0001	t0001	g0002	AMR	CLM	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG02056	hp1	a0001	c0001	t0001	g0007	EAS	KHV	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03831	hp1	a0001	c0001	t0001	g0001	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03831	hp2	a0001	c0001	t0002	g0009	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03927	hp1	a0001	c0001	t0001	g0004	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03927	hp2	a0001	c0001	t0001	g0006	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG03942	hp1	a0001	c0001	t0001	g0001	SAS	BEB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG04204	hp1	a0001	c0001	t0001	g0001	SAS	STU	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA18946	hp1	a0001	c0001	t0001	g0005	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA18946	hp2	a0001	c0001	t0002	g0003	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA19004	hp1	a0001	c0001	t0002	g0003	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA19043	hp1	a0001	c0001	t0001	g0002	AFR	LWK	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA19088	hp1	a0001	c0001	t0001	g0004	EAS	JPT	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
NA20805	hp1	a0001	c0001	t0001	g0001	EUR	TSI	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
HG02486	hp1	a0001	c0001	t0001	g0002	AFR	ACB	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600
homoSapiens_grch38	hp1	a0001	c0001	t0002	g0003	REF	REF	CT47A7_chrX_120948282_120961600	CT47A7	chrX	120948282	120961600

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
chrX:120954626	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.833C>T c.833C>T	p.Ala278Val p.Ala278Val	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/3	1088/1294	833/867	278/288	chrX	120954626
chrX:120955615	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.731C>T c.731C>T	p.Thr244Met p.Thr244Met	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	986/1294	731/867	244/288	chrX	120955615
chrX:120955616	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.730A>G c.730A>G	p.Thr244Ala p.Thr244Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	985/1294	730/867	244/288	chrX	120955616
chrX:120955625	G G	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.721C>G c.721C>G	p.Gln241Glu p.Gln241Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	976/1294	721/867	241/288	chrX	120955625
chrX:120955628	C C	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.718G>T c.718G>T	p.Ala240Ser p.Ala240Ser	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	973/1294	718/867	240/288	chrX	120955628
chrX:120955643	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.703A>G c.703A>G	p.Thr235Ala p.Thr235Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	958/1294	703/867	235/288	chrX	120955643
chrX:120955657	G G	GTGGCCT GTGGCCT	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	conservative_inframe_insertion	MODERATE	c.688_689insAGGCCA c.688_689insAGGCCA	p.Ala230delinsGluAla others(3): Show p.Ala230delinsGluAlaThr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	943/1294	688/867	230/288	chrX	120955657
chrX:120955659	G G	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.687C>G c.687C>G	p.Asp229Glu p.Asp229Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	942/1294	687/867	229/288	chrX	120955659
chrX:120955663	G G	GTGAGCT GTGAGCT	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	conservative_inframe_insertion	MODERATE	c.682_683insAGCTCA c.682_683insAGCTCA	p.Pro228delinsGlnLeu others(3): Show p.Pro228delinsGlnLeuThr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	937/1294	682/867	228/288	chrX	120955663
chrX:120955664	G G	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.682C>A c.682C>A	p.Pro228Thr p.Pro228Thr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	937/1294	682/867	228/288	chrX	120955664
chrX:120955673	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.673A>G c.673A>G	p.Thr225Ala p.Thr225Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	928/1294	673/867	225/288	chrX	120955673
chrX:120955685	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.661T>C c.661T>C	p.Ser221Pro p.Ser221Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	916/1294	661/867	221/288	chrX	120955685
chrX:120955687	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.659T>C c.659T>C	p.Leu220Pro p.Leu220Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	914/1294	659/867	220/288	chrX	120955687
chrX:120955695	C C	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.651G>T c.651G>T	p.Glu217Asp p.Glu217Asp	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	906/1294	651/867	217/288	chrX	120955695
chrX:120955770	G G	GGCCTCCT others(11): Show GGCCTCCTGGACCGACGCA	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	disruptive_inframe_insertion	MODERATE	c.575_576insTGCGTCGG others(10): Show c.575_576insTGCGTCGGTCCAGGAGGC	p.Ala192_Ala193insAl others(16): Show p.Ala192_Ala193insAlaSerValGlnGluAla	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	830/1294	575/867	192/288	chrX	120955770
chrX:120955801	G G	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.545C>A c.545C>A	p.Ala182Glu p.Ala182Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	800/1294	545/867	182/288	chrX	120955801
chrX:120955804	C C	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.542G>C c.542G>C	p.Arg181Pro p.Arg181Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	797/1294	542/867	181/288	chrX	120955804
chrX:120955835	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.511C>T c.511C>T	p.Pro171Ser p.Pro171Ser	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	766/1294	511/867	171/288	chrX	120955835
chrX:120955846	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.500C>T c.500C>T	p.Pro167Leu p.Pro167Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	755/1294	500/867	167/288	chrX	120955846
chrX:120955852	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.494T>C c.494T>C	p.Leu165Pro p.Leu165Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	749/1294	494/867	165/288	chrX	120955852
chrX:120955858	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.488G>A c.488G>A	p.Gly163Asp p.Gly163Asp	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	743/1294	488/867	163/288	chrX	120955858
chrX:120955870	C C	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.476G>C c.476G>C	p.Arg159Pro p.Arg159Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	731/1294	476/867	159/288	chrX	120955870
chrX:120955873	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.473C>T c.473C>T	p.Ala158Val p.Ala158Val	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	728/1294	473/867	158/288	chrX	120955873
chrX:120955908	T T	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.438A>C c.438A>C	p.Gln146His p.Gln146His	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	693/1294	438/867	146/288	chrX	120955908
chrX:120955918	T T	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.428A>C c.428A>C	p.Glu143Ala p.Glu143Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	683/1294	428/867	143/288	chrX	120955918
chrX:120955924	A A	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.422T>A c.422T>A	p.Leu141His p.Leu141His	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	677/1294	422/867	141/288	chrX	120955924
chrX:120955942	G G	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.404C>A c.404C>A	p.Ser135Tyr p.Ser135Tyr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	659/1294	404/867	135/288	chrX	120955942
chrX:120955951	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.395A>G c.395A>G	p.His132Arg p.His132Arg	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	650/1294	395/867	132/288	chrX	120955951
chrX:120955970	T T	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.376A>C c.376A>C	p.Met126Leu p.Met126Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	631/1294	376/867	126/288	chrX	120955970
chrX:120955973	C C	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.373G>T c.373G>T	p.Asp125Tyr p.Asp125Tyr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	628/1294	373/867	125/288	chrX	120955973
chrX:120955979	G G	A A	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.367C>T c.367C>T	p.Leu123Phe p.Leu123Phe	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	622/1294	367/867	123/288	chrX	120955979
chrX:120955987	T T	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.359A>G c.359A>G	p.His120Arg p.His120Arg	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	614/1294	359/867	120/288	chrX	120955987
chrX:120955988	G G	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.358C>G c.358C>G	p.His120Asp p.His120Asp	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	613/1294	358/867	120/288	chrX	120955988
chrX:120955997	A A	C C	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.349T>G c.349T>G	p.Ser117Ala p.Ser117Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	604/1294	349/867	117/288	chrX	120955997
chrX:120956015	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.331G>A c.331G>A	p.Ala111Thr p.Ala111Thr	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	586/1294	331/867	111/288	chrX	120956015
chrX:120956017	A A	G G	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.329T>C c.329T>C	p.Val110Ala p.Val110Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	584/1294	329/867	110/288	chrX	120956017
chrX:120956055	T T	TTCC TTCC	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	disruptive_inframe_insertion	MODERATE	c.288_290dupGGA c.288_290dupGGA	p.Glu97dup p.Glu97dup	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	545/1294	290/867	97/288	chrX	120956055
chrX:120956116	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.230G>A c.230G>A	p.Arg77Gln p.Arg77Gln	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	485/1294	230/867	77/288	chrX	120956116
chrX:120956213	C C	T T	1	a0002 a0002	1	HG00140.hp1 HG00140.hp1	missense_variant	MODERATE	c.133G>A c.133G>A	p.Val45Met p.Val45Met	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	388/1294	133/867	45/288	chrX	120956213

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
chrX:120955608	T T	G G	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.738A>C c.738A>C	p.Pro246Pro p.Pro246Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	993/1294	738/867	246/288	chrX	120955608
chrX:120955638	T T	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.708A>G c.708A>G	p.Glu236Glu p.Glu236Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	963/1294	708/867	236/288	chrX	120955638
chrX:120955665	T T	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.681A>G c.681A>G	p.Glu227Glu p.Glu227Glu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	936/1294	681/867	227/288	chrX	120955665
chrX:120955689	C C	T T	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.657G>A c.657G>A	p.Lys219Lys p.Lys219Lys	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	912/1294	657/867	219/288	chrX	120955689
chrX:120955767	T T	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.579A>G c.579A>G	p.Ala193Ala p.Ala193Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	834/1294	579/867	193/288	chrX	120955767
chrX:120955788	C C	G G	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.558G>C c.558G>C	p.Leu186Leu p.Leu186Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	813/1294	558/867	186/288	chrX	120955788
chrX:120955800	C C	T T	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.546G>A c.546G>A	p.Ala182Ala p.Ala182Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	801/1294	546/867	182/288	chrX	120955800
chrX:120955812	G G	A A	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.534C>T c.534C>T	p.Ala178Ala p.Ala178Ala	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	789/1294	534/867	178/288	chrX	120955812
chrX:120955851	G G	A A	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.495C>T c.495C>T	p.Leu165Leu p.Leu165Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	750/1294	495/867	165/288	chrX	120955851
chrX:120955884	T T	G G	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.462A>C c.462A>C	p.Pro154Pro p.Pro154Pro	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	717/1294	462/867	154/288	chrX	120955884
chrX:120955923	G G	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.423C>G c.423C>G	p.Leu141Leu p.Leu141Leu	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	678/1294	423/867	141/288	chrX	120955923
chrX:120956007	G G	C C	1	a0002c0002 a0002c0002	1	HG00140.hp1 HG00140.hp1	synonymous_variant	LOW	c.339C>G c.339C>G	p.Arg113Arg p.Arg113Arg	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	594/1294	339/867	113/288	chrX	120956007

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
chrX:120956470	T T	C C	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-125A>G c.-125A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	125	chrX	120956470
chrX:120956485	A A	G G	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-140T>C c.-140T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	140	chrX	120956485
chrX:120956505	G G	C C	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-160C>G c.-160C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	160	chrX	120956505
chrX:120956517	G G	A A	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-172C>T c.-172C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	172	chrX	120956517
chrX:120956544	G G	A A	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-199C>T c.-199C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	199	chrX	120956544
chrX:120956559	T T	G G	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-214A>C c.-214A>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	214	chrX	120956559
chrX:120956580	T T	C C	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-235A>G c.-235A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3		chrX	120956580
chrX:120956584	G G	T T	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-239C>A c.-239C>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	239	chrX	120956584
chrX:120956585	C C	T T	1	a0001c0001t0001 a0001c0001t0001	14	HG00280.hp1 HG00621.hp1 HG01358.hp1 others(11): Show HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA19088.hp1 NA20805.hp1	5_prime_UTR_variant	MODIFIER	c.-240G>A c.-240G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/3	240	chrX	120956585

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
chrX:120953476	A A	G G	1	a0001c0001t0001g0001 a0001c0001t0001g0001	4	HG03831.hp1 HG03942.hp1 HG04204.hp1 others(1): Show HG03831.hp1 HG03942.hp1 HG04204.hp1 NA20805.hp1	intron_variant	MODIFIER	c.32-54T>C c.32-54T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953476
chrX:120953808	A A	G G	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-386T>C c.32-386T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953808
chrX:120953895	AAAATAAA others(1): Show AAAATAAAT	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-481_32-474del others(8): Show c.32-481_32-474delATTTATTT	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953895
chrX:120953945	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-523G>A c.32-523G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953945
chrX:120953955	T T	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-533A>G c.32-533A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953955
chrX:120953956	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.32-534C>T c.32-534C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120953956
chrX:120954065	A A	G G	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+496T>C c.31+496T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954065
chrX:120954066	T T	C C	5	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0002g0009	7	HG00621.hp1 HG02056.hp1 HG03831.hp2 others(4): Show HG00621.hp1 HG02056.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18946.hp1 NA19088.hp1	intron_variant	MODIFIER	c.31+495A>G c.31+495A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954066
chrX:120954071	C C	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+490G>T c.31+490G>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954071
chrX:120954187	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+374G>A c.31+374G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954187
chrX:120954349	G G	A A	6	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0002g0009 a0002c0002t0002g0008	13	HG00140.hp1 HG00280.hp1 HG00621.hp1 others(10): Show HG00140.hp1 HG00280.hp1 HG00621.hp1 HG01358.hp1 HG02056.hp1 HG02486.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA18946.hp1 NA19043.hp1 NA20805.hp1	intron_variant	MODIFIER	c.31+212C>T c.31+212C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954349
chrX:120954534	G G	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.31+27C>G c.31+27C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	2/2	chrX	120954534
chrX:120955018	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-302G>A c.743-302G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955018
chrX:120955031	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-315G>A c.743-315G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955031
chrX:120955113	AC AC	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-398delG c.743-398delG	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955113
chrX:120955120	C C	T T	4	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0009 a0002c0002t0002g0008	10	HG00140.hp1 HG00280.hp1 HG01358.hp1 others(7): Show HG00140.hp1 HG00280.hp1 HG01358.hp1 HG02486.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA19043.hp1 NA20805.hp1	intron_variant	MODIFIER	c.743-404G>A c.743-404G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955120
chrX:120955126	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-410G>A c.743-410G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955126
chrX:120955150	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.743-434G>A c.743-434G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955150
chrX:120955213	T T	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+391A>G c.742+391A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955213
chrX:120955218	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+386C>T c.742+386C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955218
chrX:120955220	G G	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+384C>G c.742+384C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955220
chrX:120955221	A A	ACGCC ACGCC	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+382_742+383ins others(4): Show c.742+382_742+383insGGCG	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955221
chrX:120955227	G G	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+377C>G c.742+377C>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955227
chrX:120955245	TCCTTGGC others(5): Show TCCTTGGCGCATC	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+347_742+358del others(12): Show c.742+347_742+358delGATGCGCCAAGG	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955245
chrX:120955301	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+303G>A c.742+303G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955301
chrX:120955316	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+288C>T c.742+288C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955316
chrX:120955322	A A	G G	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+282T>C c.742+282T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955322
chrX:120955332	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+272G>A c.742+272G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955332
chrX:120955377	A A	G G	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+227T>C c.742+227T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955377
chrX:120955396	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+208G>A c.742+208G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955396
chrX:120955404	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+200C>T c.742+200C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955404
chrX:120955428	T T	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+176A>G c.742+176A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955428
chrX:120955441	T T	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+163A>T c.742+163A>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955441
chrX:120955464	C C	A A	1	a0001c0001t0001g0006 a0001c0001t0001g0006	1	HG03927.hp2 HG03927.hp2	intron_variant	MODIFIER	c.742+140G>T c.742+140G>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955464
chrX:120955465	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+139C>T c.742+139C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955465
chrX:120955468	T T	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+136A>T c.742+136A>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955468
chrX:120955522	A A	G G	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+82T>C c.742+82T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955522
chrX:120955533	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+71C>T c.742+71C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955533
chrX:120955535	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+69C>T c.742+69C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955535
chrX:120955544	T T	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+60A>G c.742+60A>G	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955544
chrX:120955548	A A	G G	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+56T>C c.742+56T>C	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955548
chrX:120955553	G G	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+51C>A c.742+51C>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955553
chrX:120955561	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+43G>A c.742+43G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955561
chrX:120955564	G G	A A	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+40C>T c.742+40C>T	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955564
chrX:120955565	T T	TC TC	1	a0001c0001t0001g0007 a0001c0001t0001g0007	1	HG02056.hp1 HG02056.hp1	intron_variant	MODIFIER	c.742+38dupG c.742+38dupG	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955565
chrX:120955572	C C	T T	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	intron_variant	MODIFIER	c.742+32G>A c.742+32G>A	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955572
chrX:120955594	CGTT CGTT	C C	1	a0002c0002t0002g0008 a0002c0002t0002g0008	1	HG00140.hp1 HG00140.hp1	splice_region_variant&intron_variant	LOW	c.742+7_742+9delAAC c.742+7_742+9delAAC	CT47A7	ENSG00000228517.3	transcript	ENST00000434883.3	protein_coding	1/2	chrX	120955594

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JoGo Online Haplotype Explorer CT47A7_chrX_120948282_120961600

JoGo Local Haplotype Explorer (on iGV) CT47A7_chrX_120948282_120961600

Translation Multiple Alignment View

🧬 Gene Summary (with MANE)

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

CCoding Level Haplotype Info (Total: 2)

TTranscript Level Haplotype Info (Total: 2)

GGenebody Level Haplotype Info (Total: 9)

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

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 3)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 9)

Haplotype Details by Sample (Haploid Level) (Total: 19)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 39)

CCoding Level Variants (On coding region but no effect to protein coding variants: Synonymous Mutations) (Total: 12)

TTranscript Level Haplotype Variants (Exon) (Total: 9)

GGenebody Level Haplotype Variants (Intron) (Total: 47)

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Annotation (Repeats)

Annotation (SNP Array)