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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AHNAK2_chr14_104932253_104983374	104947122	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.832 others(4): Show c.8329T>C	p.Ser others(7): Show p.Ser2777Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8466/18335	8329/17388	2777/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947131	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.832 others(4): Show c.8320A>G	p.Met others(7): Show p.Met2774Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8457/18335	8320/17388	2774/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947134	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.831 others(4): Show c.8317A>G	p.Lys others(7): Show p.Lys2773Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8454/18335	8317/17388	2773/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947145	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.830 others(4): Show c.8306C>T	p.Ala others(7): Show p.Ala2769Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8443/18335	8306/17388	2769/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947148	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.830 others(4): Show c.8303C>G	p.Thr others(7): Show p.Thr2768Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8440/18335	8303/17388	2768/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947179	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp2 HG02896.hp1 others(2): Show HG02630.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0068 others(1): Show a0028 a0064 a0068 a0133	a0028c0019 a0064c0165 a0068c0169 others(1): Show a0028c0019 a0064c0165 a0068c0169 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0068c0169t0002 others(1): Show a0028c0019t0009 a0064c0165t0001 a0068c0169t0002 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(2): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0068c0169t0002g0071 a0133c0097t0001g0116	5	356	0.0140	c.827 others(4): Show c.8272G>C	p.Val others(7): Show p.Val2758Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8409/18335	8272/17388	2758/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947180	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp2 HG02896.hp1 others(2): Show HG02630.hp1 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0068 others(1): Show a0028 a0064 a0068 a0133	a0028c0019 a0064c0165 a0068c0169 others(1): Show a0028c0019 a0064c0165 a0068c0169 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0068c0169t0002 others(1): Show a0028c0019t0009 a0064c0165t0001 a0068c0169t0002 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(2): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0068c0169t0002g0071 a0133c0097t0001g0116	5	356	0.0140	c.827 others(4): Show c.8271C>G	p.Asn others(7): Show p.Asn2757Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8408/18335	8271/17388	2757/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947194	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.825 others(4): Show c.8257G>A	p.Val others(7): Show p.Val2753Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8394/18335	8257/17388	2753/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947214	A A	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.823 others(4): Show c.8237T>A	p.Leu others(7): Show p.Leu2746His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8374/18335	8237/17388	2746/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947224	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.822 others(4): Show c.8227G>A	p.Glu others(7): Show p.Glu2743Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8364/18335	8227/17388	2743/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947229	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.822 others(4): Show c.8222T>C	p.Met others(7): Show p.Met2741Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8359/18335	8222/17388	2741/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947234	G G	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.821 others(4): Show c.8217C>A	p.Phe others(7): Show p.Phe2739Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8354/18335	8217/17388	2739/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947248	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.820 others(4): Show c.8203C>G	p.Gln others(7): Show p.Gln2735Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8340/18335	8203/17388	2735/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947251	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG03130.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0028 a0064	a0028c0019 a0064c0165 a0028c0019 a0064c0165	a0028c0019t0009 a0064c0165t0001 a0028c0019t0009 a0064c0165t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247	3	356	0.0084	c.820 others(4): Show c.8200C>G	p.Leu others(7): Show p.Leu2734Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8337/18335	8200/17388	2734/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947292	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.815 others(4): Show c.8159A>C	p.His others(7): Show p.His2720Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8296/18335	8159/17388	2720/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947301	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.815 others(4): Show c.8150C>T	p.Pro others(7): Show p.Pro2717Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8287/18335	8150/17388	2717/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947308	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.814 others(4): Show c.8143A>G	p.Lys others(7): Show p.Lys2715Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8280/18335	8143/17388	2715/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947311	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.814 others(4): Show c.8140G>C	p.Val others(7): Show p.Val2714Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8277/18335	8140/17388	2714/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947320	G G	T T	missense_variant missense_variant	MODERATE	HG00733.hp1 HG02109.hp1 HG00733.hp1 HG02109.hp1	a0055 a0205 a0055 a0205	a0055c0205 a0205c0245 a0055c0205 a0205c0245	a0055c0205t0002 a0205c0245t0002 a0055c0205t0002 a0205c0245t0002	a0055c0205t0002g0069 a0205c0245t0002g0067 a0055c0205t0002g0069 a0205c0245t0002g0067	2	356	0.0056	c.813 others(4): Show c.8131C>A	p.Gln others(7): Show p.Gln2711Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8268/18335	8131/17388	2711/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947322	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.812 others(4): Show c.8129G>T	p.Gly others(7): Show p.Gly2710Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8266/18335	8129/17388	2710/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947339	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.811 others(4): Show c.8112A>C	p.Gln others(7): Show p.Gln2704His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8249/18335	8112/17388	2704/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947341	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.811 others(4): Show c.8110C>G	p.Gln others(7): Show p.Gln2704Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8247/18335	8110/17388	2704/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947356	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.809 others(4): Show c.8095C>G	p.Gln others(7): Show p.Gln2699Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8232/18335	8095/17388	2699/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947365	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.808 others(4): Show c.8086A>C	p.Ile others(7): Show p.Ile2696Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8223/18335	8086/17388	2696/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947374	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.807 others(4): Show c.8077A>G	p.Thr others(7): Show p.Thr2693Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8214/18335	8077/17388	2693/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947398	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.805 others(4): Show c.8053C>T	p.Pro others(7): Show p.Pro2685Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8190/18335	8053/17388	2685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947401	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.805 others(4): Show c.8050C>T	p.Leu others(7): Show p.Leu2684Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8187/18335	8050/17388	2684/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947406	A A	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.804 others(4): Show c.8045T>G	p.Met others(7): Show p.Met2682Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8182/18335	8045/17388	2682/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947407	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.804 others(4): Show c.8044A>G	p.Met others(7): Show p.Met2682Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8181/18335	8044/17388	2682/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947424	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.802 others(4): Show c.8027T>C	p.Leu others(7): Show p.Leu2676Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8164/18335	8027/17388	2676/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947427	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.802 others(4): Show c.8024A>C	p.Glu others(7): Show p.Glu2675Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8161/18335	8024/17388	2675/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947440	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.801 others(4): Show c.8011G>C	p.Val others(7): Show p.Val2671Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8148/18335	8011/17388	2671/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947442	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG03130.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0028 a0064	a0028c0019 a0064c0165 a0028c0019 a0064c0165	a0028c0019t0009 a0064c0165t0001 a0028c0019t0009 a0064c0165t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247	3	356	0.0084	c.800 others(4): Show c.8009T>C	p.Leu others(7): Show p.Leu2670Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8146/18335	8009/17388	2670/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947445	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.800 others(4): Show c.8006C>T	p.Ala others(7): Show p.Ala2669Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8143/18335	8006/17388	2669/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947454	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG02698.hp2 others(8): Show HG00438.hp2 HG00558.hp1 HG02698.hp2 HG03710.hp2 NA18956.hp2 NA18970.hp1 NA18981.hp1 NA19005.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1	a0004 a0056 a0058 a0004 a0056 a0058	a0004c0005 a0004c0157 a0004c0158 others(2): Show a0004c0005 a0004c0157 a0004c0158 a0056c0159 a0058c0155	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(2): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0056c0159t0004 a0058c0155t0004	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(6): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0056c0159t0004g0042 a0058c0155t0004g0047	11	356	0.0309	c.799 others(4): Show c.7997C>T	p.Ser others(7): Show p.Ser2666Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8134/18335	7997/17388	2666/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947457	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.799 others(4): Show c.7994A>G	p.Glu others(7): Show p.Glu2665Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8131/18335	7994/17388	2665/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947458	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.799 others(4): Show c.7993G>A	p.Glu others(7): Show p.Glu2665Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8130/18335	7993/17388	2665/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947476	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0064 a0133 a0028 a0064 a0133	a0028c0019 a0064c0165 a0133c0097 a0028c0019 a0064c0165 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0133c0097t0001 a0028c0019t0009 a0064c0165t0001 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(1): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0133c0097t0001g0116	4	356	0.0112	c.797 others(4): Show c.7975A>G	p.Arg others(7): Show p.Arg2659Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8112/18335	7975/17388	2659/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947530	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.792 others(4): Show c.7921G>A	p.Val others(7): Show p.Val2641Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8058/18335	7921/17388	2641/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947532	C C	G G	missense_variant missense_variant	MODERATE	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0069 a0080 a0069 a0080	a0069c0184 a0080c0180 a0069c0184 a0080c0180	a0069c0184t0002 a0080c0180t0002 a0069c0184t0002 a0080c0180t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0069c0184t0002g0209 a0080c0180t0002g0181	2	356	0.0056	c.791 others(4): Show c.7919G>C	p.Gly others(7): Show p.Gly2640Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8056/18335	7919/17388	2640/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947532	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.791 others(4): Show c.7919G>A	p.Gly others(7): Show p.Gly2640Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8056/18335	7919/17388	2640/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947537	G G	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.791 others(4): Show c.7914C>A	p.Asp others(7): Show p.Asp2638Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8051/18335	7914/17388	2638/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947584	C C	T T	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02132.hp1 HG02027.hp2 HG02132.hp1	a0027 a0027	a0027c0189 a0027c0190 a0027c0189 a0027c0190	a0027c0189t0002 a0027c0190t0002 a0027c0189t0002 a0027c0190t0002	a0027c0189t0002g0227 a0027c0190t0002g0228 a0027c0189t0002g0227 a0027c0190t0002g0228	2	356	0.0056	c.786 others(4): Show c.7867G>A	p.Ala others(7): Show p.Ala2623Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8004/18335	7867/17388	2623/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947587	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.786 others(4): Show c.7864A>G	p.Arg others(7): Show p.Arg2622Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8001/18335	7864/17388	2622/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947596	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.785 others(4): Show c.7855C>G	p.Gln others(7): Show p.Gln2619Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7992/18335	7855/17388	2619/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947611	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.784 others(4): Show c.7840A>G	p.Met others(7): Show p.Met2614Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7977/18335	7840/17388	2614/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947614	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.783 others(4): Show c.7837A>G	p.Ser others(7): Show p.Ser2613Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7974/18335	7837/17388	2613/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947617	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.783 others(4): Show c.7834T>C	p.Ser others(7): Show p.Ser2612Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7971/18335	7834/17388	2612/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947619	A A	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.783 others(4): Show c.7832T>A	p.Leu others(7): Show p.Leu2611Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7969/18335	7832/17388	2611/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947626	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2	a0028 a0133 a0028 a0133	a0028c0019 a0133c0097 a0028c0019 a0133c0097	a0028c0019t0009 a0133c0097t0001 a0028c0019t0009 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116 a0028c0019t0009g0049 a0028c0019t0009g0050 a0133c0097t0001g0116	3	356	0.0084	c.782 others(4): Show c.7825A>G	p.Met others(7): Show p.Met2609Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7962/18335	7825/17388	2609/5795	chr14	TogoVar

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