Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
CT47A3_chrX_120967746_120981068	120974124	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	1	c.798 others(8): Show c.798_799insT	p.Glu others(5): Show p.Glu267fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	2/3	1057/1298	798/867	266/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120974150	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	-1	c.772 others(4): Show c.772delG	p.Asp others(5): Show p.Asp258fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	2/3	1031/1298	772/867	258/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975133	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	1	c.676 others(4): Show c.676dupG	p.Glu others(5): Show p.Glu226fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	935/1298	676/867	226/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975139	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	1	c.670 others(4): Show c.670dupG	p.Ala others(5): Show p.Ala224fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	929/1298	670/867	224/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975164	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0020 a0006c0011t0004g0020	1	201	0.0050	1	c.645 others(4): Show c.645dupC	p.Ala others(5): Show p.Ala216fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	904/1298	645/867	215/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975223	G G	GGGACGAC others(10): Show GGGACGACGCGGCCTCCT	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	17	c.586 others(24): Show c.586_587insAGGAGGCCGCGTCGTCC	p.Pro others(5): Show p.Pro196fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	845/1298	586/867	196/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975341	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	1	c.468 others(4): Show c.468dupT	p.Ala others(5): Show p.Ala157fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	727/1298	468/867	156/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975456	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	-1	c.353 others(4): Show c.353delG	p.Gly others(5): Show p.Gly118fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	612/1298	353/867	118/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975468	G G	GT GT	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0020 a0006c0011t0004g0020	1	201	0.0050	1	c.341 others(4): Show c.341dupA	p.Tyr others(5): Show p.Tyr114fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	600/1298	341/867	114/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975542	CG CG	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	-1	c.267 others(4): Show c.267delC	p.Ala others(4): Show p.Ala90fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	526/1298	267/867	89/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975580	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00597.hp1	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0017 a0009c0008t0001g0017	1	201	0.0050	1	c.229 others(4): Show c.229dupC	p.Arg others(4): Show p.Arg77fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	488/1298	229/867	77/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975667	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	1	c.142 others(4): Show c.142dupG	p.Ala others(4): Show p.Ala48fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	401/1298	142/867	48/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975672	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	1	c.137 others(4): Show c.137dupT	p.Pro others(4): Show p.Pro47fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	396/1298	137/867	46/288		chrX	TogoVar
CT47A3_chrX_120967746_120981068	120975787	T T	TG TG	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0008 a0012c0017t0008	a0012c0017t0008g0036 a0012c0017t0008g0036	1	201	0.0050	1	c.22d others(3): Show c.22dupC	p.His others(3): Show p.His8fs	CT47A3	ENSG00000236126.3	transcript	ENST00000441330.3	protein_coding	1/3	281/1298	22/867	8/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120969223	GT GT	G G	frameshift_variant frameshift_variant	HIGH	NA18981.hp1 NA18981.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0005 a0005c0011t0005	a0005c0011t0005g0023 a0005c0011t0005g0023	1	164	0.0061	-1	c.839 others(4): Show c.839delA	p.Asn others(5): Show p.Asn280fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	2/3	1098/1298	839/867	280/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970321	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	1	c.628 others(4): Show c.628dupG	p.Glu others(5): Show p.Glu210fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	887/1298	628/867	210/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970356	AG AG	A A	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	-1	c.593 others(4): Show c.593delC	p.Pro others(5): Show p.Pro198fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	852/1298	593/867	198/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970408	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18968.hp2 NA18968.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0014 a0004c0007t0001g0014	1	164	0.0061	1	c.541 others(4): Show c.541dupC	p.Arg others(5): Show p.Arg181fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	800/1298	541/867	181/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970417	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA19070.hp1 NA19070.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0025 a0012c0016t0001g0025	1	164	0.0061	-1	c.532 others(4): Show c.532delG	p.Ala others(5): Show p.Ala178fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	791/1298	532/867	178/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970605	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00544.hp2	a0010 a0010	a0010c0006 a0010c0006	a0010c0006t0001 a0010c0006t0001	a0010c0006t0001g0013 a0010c0006t0001g0013	1	164	0.0061	1	c.344 others(4): Show c.344dupC	p.Ala others(5): Show p.Ala116fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	603/1298	344/867	115/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970613	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18948.hp1 NA18948.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0024 a0011c0014t0001g0024	1	164	0.0061	1	c.336 others(4): Show c.336dupT	p.Arg others(5): Show p.Arg113fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	595/1298	336/867	112/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970682	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	1	c.267 others(4): Show c.267dupC	p.Ala others(4): Show p.Ala90fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	526/1298	267/867	89/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970715	C C	CAG CAG	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	2	c.234 others(9): Show c.234_235insCT	p.Gly others(4): Show p.Gly79fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	493/1298	234/867	78/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970720	CG CG	C C	frameshift_variant frameshift_variant	HIGH	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0002 a0003c0015t0002	a0003c0015t0002g0034 a0003c0015t0002g0034	1	164	0.0061	-1	c.229 others(4): Show c.229delC	p.Arg others(4): Show p.Arg77fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	488/1298	229/867	77/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970770	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19070.hp1 NA19070.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0001 a0012c0016t0001	a0012c0016t0001g0025 a0012c0016t0001g0025	1	164	0.0061	1	c.179 others(4): Show c.179dupG	p.Leu others(4): Show p.Leu61fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	438/1298	179/867	60/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970813	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	1	c.136 others(4): Show c.136dupG	p.Val others(4): Show p.Val46fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	395/1298	136/867	46/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970909	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	-1	c.40d others(3): Show c.40delC	p.Gln others(4): Show p.Gln14fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	299/1298	40/867	14/288		chrX	TogoVar
CT47A4_chrX_120962886_120976208	120970933	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18968.hp1 NA18968.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0004 a0013c0018t0004	a0013c0018t0004g0011 a0013c0018t0004g0011	1	164	0.0061	1	c.16d others(3): Show c.16dupG	p.Asp others(3): Show p.Asp6fs	CT47A4	ENSG00000230594.3	transcript	ENST00000415858.3	protein_coding	1/3	275/1298	16/867	6/288		chrX	TogoVar
CT47A5_chrX_120958026_120971348	120965852	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG02004.hp2 HG02004.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0028 a0005c0011t0001g0028	1	130	0.0077	1	c.237 others(4): Show c.237dupG	p.Ser others(4): Show p.Ser80fs	CT47A5	ENSG00000237957.6	transcript	ENST00000439466.3	protein_coding	1/3	496/1298	237/867	79/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960499	TG TG	T T	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	-1	c.729 others(4): Show c.729delC	p.Thr others(5): Show p.Thr244fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	988/1298	729/867	243/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960578	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	1	c.650 others(8): Show c.650_651insT	p.Glu others(5): Show p.Glu217fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	909/1298	650/867	217/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960687	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	1	c.541 others(4): Show c.541dupC	p.Arg others(5): Show p.Arg181fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	800/1298	541/867	181/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960717	G G	GCA GCA	frameshift_variant frameshift_variant	HIGH	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	2	c.511 others(9): Show c.511_512insTG	p.Pro others(5): Show p.Pro171fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	770/1298	511/867	171/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960725	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	-1	c.503 others(4): Show c.503delT	p.Leu others(5): Show p.Leu168fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	762/1298	503/867	168/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960728	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	1	c.500 others(8): Show c.500_501insT	p.Leu others(5): Show p.Leu168fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	759/1298	500/867	167/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960740	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	-1	c.488 others(4): Show c.488delG	p.Gly others(5): Show p.Gly163fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	747/1298	488/867	163/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960757	C C	CT CT	frameshift_variant frameshift_variant	HIGH	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	1	c.471 others(8): Show c.471_472insA	p.Ala others(5): Show p.Ala158fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	730/1298	471/867	157/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960873	A A	AT AT	frameshift_variant frameshift_variant	HIGH	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	1	c.355 others(4): Show c.355dupA	p.Ile others(5): Show p.Ile119fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	614/1298	355/867	119/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120960931	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	1	c.297 others(4): Show c.297dupG	p.Asn others(5): Show p.Asn100fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	556/1298	297/867	99/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961020	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	1	c.208 others(4): Show c.208dupG	p.Ala others(4): Show p.Ala70fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	467/1298	208/867	70/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961031	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	1	c.197 others(4): Show c.197dupG	p.Glu others(4): Show p.Glu67fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	456/1298	197/867	66/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961060	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA19060.hp1 NA19060.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0027 a0004c0015t0001g0027	1	110	0.0091	1	c.168 others(4): Show c.168dupG	p.Pro others(4): Show p.Pro57fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	427/1298	168/867	56/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961081	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG03139.hp1 HG03139.hp1	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0005 a0010c0008t0005	a0010c0008t0005g0014 a0010c0008t0005g0014	1	110	0.0091	1	c.147 others(4): Show c.147dupC	p.Glu others(4): Show p.Glu50fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	406/1298	147/867	49/288		chrX	TogoVar
CT47A6_chrX_120953165_120966487	120961176	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0029 a0003c0007t0007g0029	1	110	0.0091	1	c.52d others(3): Show c.52dupG	p.Val others(4): Show p.Val18fs	CT47A6	ENSG00000226023.6	transcript	ENST00000419194.3	protein_coding	1/3	311/1298	52/867	18/288		chrX	TogoVar
CT47A8_chrX_120943422_120956744	120951141	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0002 a0003c0002t0001g0002	1	7	0.1429	1	c.344 others(4): Show c.344dupC	p.Ala others(5): Show p.Ala116fs	CT47A8	ENSG00000230347.5	transcript	ENST00000457977.3	protein_coding	1/3	603/1298	344/867	115/288		chrX	TogoVar
CT47A9_chrX_120938561_120951883	120946608	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00597.hp1 HG00597.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	8	0.1250	1	c.16d others(3): Show c.16dupG	p.Asp others(3): Show p.Asp6fs	CT47A9	ENSG00000226600.3	transcript	ENST00000417256.3	protein_coding	1/3	275/1298	16/867	6/288		chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073387	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0001 a0015c0020t0001g0001	1	310	0.0032	1	c.166 others(4): Show c.166dupG	p.Glu others(4): Show p.Glu56fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	400/1772	167/975	56/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073429	C C	CCT CCT	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0001 a0015c0020t0001g0001	1	310	0.0032	2	c.205 others(9): Show c.205_206insTC	p.Pro others(4): Show p.Pro69fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	439/1772	206/975	69/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073438	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18978.hp2 NA18978.hp2	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0001 a0015c0020t0001	a0015c0020t0001g0001 a0015c0020t0001g0001	1	310	0.0032	1	c.216 others(4): Show c.216dupG	p.Asn others(4): Show p.Asn73fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	450/1772	217/975	73/324	INFO_REALIGN_3_PRIME	chrX	TogoVar
CT47C1_chrX_119067993_119081765	119073581	A A	AC AC	frameshift_variant frameshift_variant	HIGH	NA19058.hp1 NA19058.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0002 a0011c0018t0002g0002	1	310	0.0032	1	c.360 others(4): Show c.360dupC	p.Ile others(5): Show p.Ile121fs	CT47C1	ENSG00000277535.4	transcript	ENST00000620151.4	protein_coding	1/3	594/1772	361/975	121/324	INFO_REALIGN_3_PRIME	chrX	TogoVar

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