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	104947629	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.782 others(4): Show c.7822G>A	p.Glu others(7): Show p.Glu2608Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7959/18335	7822/17388	2608/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947640	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.781 others(4): Show c.7811C>T	p.Ala others(7): Show p.Ala2604Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7948/18335	7811/17388	2604/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947648	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.780 others(4): Show c.7803A>C	p.Glu others(7): Show p.Glu2601Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7940/18335	7803/17388	2601/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947653	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.779 others(4): Show c.7798G>A	p.Ala others(7): Show p.Ala2600Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7935/18335	7798/17388	2600/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947661	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.779 others(4): Show c.7790G>T	p.Gly others(7): Show p.Gly2597Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7927/18335	7790/17388	2597/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947674	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.777 others(4): Show c.7777C>G	p.Leu others(7): Show p.Leu2593Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7914/18335	7777/17388	2593/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947675	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.777 others(4): Show c.7776G>C	p.Lys others(7): Show p.Lys2592Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7913/18335	7776/17388	2592/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947689	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.776 others(4): Show c.7762G>A	p.Val others(7): Show p.Val2588Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7899/18335	7762/17388	2588/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947695	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.775 others(4): Show c.7756C>G	p.Leu others(7): Show p.Leu2586Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7893/18335	7756/17388	2586/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947695	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.775 others(4): Show c.7756C>A	p.Leu others(7): Show p.Leu2586Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7893/18335	7756/17388	2586/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947704	C C	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.774 others(4): Show c.7747G>A	p.Gly others(7): Show p.Gly2583Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7884/18335	7747/17388	2583/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947709	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.774 others(4): Show c.7742T>A	p.Leu others(7): Show p.Leu2581His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7879/18335	7742/17388	2581/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947714	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.773 others(4): Show c.7737G>A	p.Met others(7): Show p.Met2579Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7874/18335	7737/17388	2579/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947716	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.773 others(4): Show c.7735A>G	p.Met others(7): Show p.Met2579Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7872/18335	7735/17388	2579/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947719	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.773 others(4): Show c.7732G>A	p.Glu others(7): Show p.Glu2578Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7869/18335	7732/17388	2578/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947743	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.770 others(4): Show c.7708C>G	p.Gln others(7): Show p.Gln2570Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7845/18335	7708/17388	2570/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947746	C C	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.770 others(4): Show c.7705G>T	p.Val others(7): Show p.Val2569Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7842/18335	7705/17388	2569/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947746	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.770 others(4): Show c.7705G>C	p.Val others(7): Show p.Val2569Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7842/18335	7705/17388	2569/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947781	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.767 others(4): Show c.7670C>T	p.Pro others(7): Show p.Pro2557Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7807/18335	7670/17388	2557/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947787	G G	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.766 others(4): Show c.7664C>A	p.Pro others(7): Show p.Pro2555His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7801/18335	7664/17388	2555/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947805	A A	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.764 others(4): Show c.7646T>G	p.Val others(7): Show p.Val2549Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7783/18335	7646/17388	2549/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947834	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.761 others(4): Show c.7617C>A	p.Asp others(7): Show p.Asp2539Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7754/18335	7617/17388	2539/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947836	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.761 others(4): Show c.7615G>C	p.Asp others(7): Show p.Asp2539His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7752/18335	7615/17388	2539/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947847	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.760 others(4): Show c.7604C>T	p.Pro others(7): Show p.Pro2535Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7741/18335	7604/17388	2535/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947851	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.760 others(4): Show c.7600C>G	p.Gln others(7): Show p.Gln2534Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7737/18335	7600/17388	2534/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947860	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.759 others(4): Show c.7591C>A	p.Leu others(7): Show p.Leu2531Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7728/18335	7591/17388	2531/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947868	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.758 others(4): Show c.7583C>A	p.Ala others(7): Show p.Ala2528Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7720/18335	7583/17388	2528/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947869	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.758 others(4): Show c.7582G>A	p.Ala others(7): Show p.Ala2528Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7719/18335	7582/17388	2528/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947893	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02630.hp2 HG02723.hp2 others(11): Show HG02559.hp2 HG02630.hp2 HG02723.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 NA18986.hp1 NA19000.hp2 NA19011.hp1 NA19063.hp1 NA19074.hp1	a0009 a0028 a0031 others(6): Show a0009 a0028 a0031 a0064 a0127 a0133 a0162 a0164 a0204	a0009c0043 a0009c0185 a0009c0186 others(8): Show a0009c0043 a0009c0185 a0009c0186 a0028c0019 a0031c0046 a0064c0165 a0127c0241 a0133c0097 a0162c0077 a0164c0139 a0204c0053	a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 others(8): Show a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0028c0019t0009 a0031c0046t0002 a0064c0165t0001 a0127c0241t0003 a0133c0097t0001 a0162c0077t0001 a0164c0139t0001 a0204c0053t0001	a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 others(11): Show a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0028c0019t0009g0049 a0028c0019t0009g0050 a0031c0046t0002g0250 a0031c0046t0002g0257 a0064c0165t0001g0247 a0127c0241t0003g0138 a0133c0097t0001g0116 a0162c0077t0001g0094 a0164c0139t0001g0185 a0204c0053t0001g0065	14	356	0.0393	c.755 others(4): Show c.7558T>C	p.Ser others(7): Show p.Ser2520Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7695/18335	7558/17388	2520/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947901	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(155): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(92): Show a0001 a0004 a0006 a0009 a0010 a0016 a0017 a0018 a0019 a0020 a0022 a0025 a0026 a0027 a0028 a0031 a0032 a0034 a0035 a0052 a0053 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0064 a0066 a0067 a0068 a0069 a0071 a0072 a0073 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0102 a0103 a0105 a0108 a0110 a0111 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0125 a0126 a0127 a0128 a0130 a0131 a0132 a0133 a0149 a0157 a0173 a0180 a0195 a0196 a0203 a0205 a0207 a0211	a0001c0001 a0001c0003 a0001c0045 others(104): Show a0001c0001 a0001c0003 a0001c0045 a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0031c0046 a0032c0050 a0034c0048 a0035c0023 a0052c0208 a0052c0209 a0053c0246 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0064c0165 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0071c0177 a0072c0178 a0073c0171 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0105c0211 a0108c0218 a0110c0221 a0111c0232 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0130c0075 a0131c0235 a0132c0236 a0133c0097 a0149c0086 a0157c0080 a0173c0114 a0180c0120 a0195c0243 a0196c0207 a0203c0210 a0205c0245 a0207c0206 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(104): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0052c0208t0002 a0052c0209t0002 a0053c0246t0002 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0064c0165t0001 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0105c0211t0002 a0108c0218t0002 a0110c0221t0002 a0111c0232t0002 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0133c0097t0001 a0149c0086t0002 a0157c0080t0003 a0173c0114t0002 a0180c0120t0002 a0195c0243t0003 a0196c0207t0002 a0203c0210t0003 a0205c0245t0002 a0207c0206t0002 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(129): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0052c0208t0002g0231 a0052c0209t0002g0232 a0053c0246t0002g0074 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0064c0165t0001g0247 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0105c0211t0002g0061 a0108c0218t0002g0303 a0110c0221t0002g0253 a0111c0232t0002g0066 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0133c0097t0001g0116 a0149c0086t0002g0081 a0157c0080t0003g0121 a0173c0114t0002g0288 a0180c0120t0002g0279 a0195c0243t0003g0148 a0196c0207t0002g0153 a0203c0210t0003g0149 a0205c0245t0002g0067 a0207c0206t0002g0223 a0211c0247t0002g0206	158	356	0.4438	c.755 others(4): Show c.7550G>T	p.Gly others(7): Show p.Gly2517Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7687/18335	7550/17388	2517/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947902	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.754 others(4): Show c.7549G>A	p.Gly others(7): Show p.Gly2517Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7686/18335	7549/17388	2517/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947913	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.753 others(4): Show c.7538T>C	p.Val others(7): Show p.Val2513Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7675/18335	7538/17388	2513/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947919	G G	A A	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.753 others(4): Show c.7532C>T	p.Pro others(7): Show p.Pro2511Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7669/18335	7532/17388	2511/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947922	G G	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.752 others(4): Show c.7529C>A	p.Ala others(7): Show p.Ala2510Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7666/18335	7529/17388	2510/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947937	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0064 a0133 a0064 a0133	a0064c0165 a0133c0097 a0064c0165 a0133c0097	a0064c0165t0001 a0133c0097t0001 a0064c0165t0001 a0133c0097t0001	a0064c0165t0001g0247 a0133c0097t0001g0116 a0064c0165t0001g0247 a0133c0097t0001g0116	2	356	0.0056	c.751 others(4): Show c.7514C>T	p.Ser others(7): Show p.Ser2505Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7651/18335	7514/17388	2505/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947940	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.751 others(4): Show c.7511C>T	p.Ala others(7): Show p.Ala2504Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7648/18335	7511/17388	2504/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947943	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(282): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(177): Show a0001 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0029 a0030 a0031 a0032 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0124 a0125 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0134 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143 a0144 a0145 a0148 a0149 a0150 a0151 a0152 a0153 a0154 a0155 a0156 a0157 a0158 a0160 a0161 a0162 a0163 a0164 a0165 a0166 a0167 a0168 a0169 a0170 a0171 a0173 a0175 a0179 a0180 a0182 a0183 a0188 a0189 a0190 a0191 a0192 a0193 a0194 a0195 a0196 a0197 a0199 a0201 a0203 a0204 a0205 a0206 a0207 a0208 a0209 a0210 a0211	a0001c0001 a0001c0003 a0001c0045 others(201): Show a0001c0001 a0001c0003 a0001c0045 a0004c0005 a0004c0157 a0004c0158 a0005c0013 a0005c0025 a0005c0027 a0005c0067 a0005c0091 a0006c0006 a0006c0200 a0007c0004 a0007c0104 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0011c0012 a0012c0036 a0012c0039 a0014c0009 a0015c0035 a0015c0122 a0015c0125 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0027c0189 a0027c0190 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0032c0050 a0034c0048 a0035c0023 a0036c0030 a0037c0029 a0038c0037 a0039c0028 a0040c0038 a0041c0083 a0041c0099 a0042c0026 a0043c0040 a0044c0049 a0045c0024 a0046c0032 a0051c0051 a0052c0208 a0052c0209 a0053c0246 a0054c0059 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0065c0203 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0099c0061 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0104c0212 a0105c0211 a0106c0070 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0124c0071 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0129c0133 a0130c0075 a0131c0235 a0132c0236 a0134c0096 a0135c0076 a0136c0140 a0137c0094 a0138c0095 a0139c0142 a0140c0093 a0141c0092 a0142c0085 a0143c0087 a0144c0238 a0145c0089 a0148c0081 a0149c0086 a0150c0082 a0151c0145 a0152c0146 a0153c0147 a0154c0148 a0155c0084 a0156c0144 a0157c0080 a0158c0143 a0160c0078 a0161c0079 a0162c0077 a0163c0098 a0164c0139 a0165c0100 a0166c0103 a0167c0101 a0168c0102 a0169c0237 a0170c0105 a0171c0107 a0173c0114 a0175c0116 a0179c0121 a0180c0120 a0182c0128 a0183c0130 a0188c0074 a0189c0073 a0190c0151 a0191c0150 a0192c0137 a0193c0138 a0194c0136 a0195c0243 a0196c0207 a0197c0057 a0199c0069 a0201c0154 a0203c0210 a0204c0053 a0205c0245 a0206c0066 a0207c0206 a0208c0056 a0209c0054 a0210c0055 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(202): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0005c0013t0001 a0005c0025t0001 a0005c0027t0001 a0005c0067t0001 a0005c0091t0001 a0006c0006t0002 a0006c0200t0002 a0007c0004t0001 a0007c0104t0001 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0011c0012t0002 a0012c0036t0001 a0012c0039t0001 a0014c0009t0001 a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0036c0030t0001 a0037c0029t0001 a0038c0037t0001 a0039c0028t0001 a0039c0028t0014 a0040c0038t0001 a0041c0083t0001 a0041c0099t0001 a0042c0026t0001 a0043c0040t0001 a0044c0049t0003 a0045c0024t0001 a0046c0032t0002 a0051c0051t0001 a0052c0208t0002 a0052c0209t0002 a0053c0246t0002 a0054c0059t0001 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0065c0203t0002 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0099c0061t0001 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0104c0212t0002 a0105c0211t0002 a0106c0070t0001 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0124c0071t0001 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0129c0133t0001 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0134c0096t0001 a0135c0076t0001 a0136c0140t0001 a0137c0094t0001 a0138c0095t0001 a0139c0142t0001 a0140c0093t0001 a0141c0092t0001 a0142c0085t0001 a0143c0087t0001 a0144c0238t0003 a0145c0089t0001 a0148c0081t0001 a0149c0086t0002 a0150c0082t0001 a0151c0145t0001 a0152c0146t0001 a0153c0147t0001 a0154c0148t0001 a0155c0084t0001 a0156c0144t0001 a0157c0080t0003 a0158c0143t0001 a0160c0078t0001 a0161c0079t0012 a0162c0077t0001 a0163c0098t0001 a0164c0139t0001 a0165c0100t0001 a0166c0103t0001 a0167c0101t0001 a0168c0102t0001 a0169c0237t0003 a0170c0105t0002 a0171c0107t0001 a0173c0114t0002 a0175c0116t0001 a0179c0121t0002 a0180c0120t0002 a0182c0128t0002 a0183c0130t0002 a0188c0074t0001 a0189c0073t0001 a0190c0151t0001 a0191c0150t0001 a0192c0137t0001 a0193c0138t0001 a0194c0136t0001 a0195c0243t0003 a0196c0207t0002 a0197c0057t0001 a0199c0069t0001 a0201c0154t0001 a0203c0210t0003 a0204c0053t0001 a0205c0245t0002 a0206c0066t0001 a0207c0206t0002 a0208c0056t0003 a0209c0054t0003 a0210c0055t0003 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(243): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0005c0013t0001g0083 a0005c0013t0001g0095 a0005c0013t0001g0202 a0005c0025t0001g0015 a0005c0027t0001g0266 a0005c0027t0001g0282 a0005c0067t0001g0129 a0005c0091t0001g0150 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0007c0004t0001g0237 a0007c0004t0001g0238 a0007c0004t0001g0242 a0007c0004t0001g0243 a0007c0004t0001g0244 a0007c0004t0001g0245 a0007c0004t0001g0284 a0007c0104t0001g0239 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0011c0012t0002g0006 a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 a0015c0035t0002g0020 a0015c0122t0002g0102 a0015c0125t0002g0084 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0036c0030t0001g0018 a0037c0029t0001g0079 a0037c0029t0001g0294 a0038c0037t0001g0027 a0039c0028t0001g0214 a0039c0028t0014g0215 a0040c0038t0001g0174 a0040c0038t0001g0189 a0041c0083t0001g0216 a0041c0099t0001g0217 a0042c0026t0001g0021 a0043c0040t0001g0172 a0043c0040t0001g0191 a0044c0049t0003g0131 a0044c0049t0003g0133 a0045c0024t0001g0142 a0045c0024t0001g0143 a0046c0032t0002g0019 a0051c0051t0001g0024 a0052c0208t0002g0231 a0052c0209t0002g0232 a0053c0246t0002g0074 a0054c0059t0001g0119 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0065c0203t0002g0201 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0099c0061t0001g0091 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0104c0212t0002g0259 a0105c0211t0002g0061 a0106c0070t0001g0184 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0124c0071t0001g0123 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0129c0133t0001g0052 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0134c0096t0001g0218 a0135c0076t0001g0213 a0136c0140t0001g0186 a0137c0094t0001g0111 a0138c0095t0001g0112 a0139c0142t0001g0127 a0140c0093t0001g0210 a0141c0092t0001g0096 a0142c0085t0001g0212 a0143c0087t0001g0085 a0144c0238t0003g0070 a0145c0089t0001g0080 a0148c0081t0001g0283 a0149c0086t0002g0081 a0150c0082t0001g0088 a0151c0145t0001g0165 a0152c0146t0001g0187 a0153c0147t0001g0188 a0154c0148t0001g0265 a0155c0084t0001g0211 a0156c0144t0001g0158 a0157c0080t0003g0121 a0158c0143t0001g0169 a0160c0078t0001g0117 a0161c0079t0012g0141 a0162c0077t0001g0094 a0163c0098t0001g0122 a0164c0139t0001g0185 a0165c0100t0001g0240 a0166c0103t0001g0241 a0167c0101t0001g0235 a0168c0102t0001g0236 a0169c0237t0003g0139 a0170c0105t0002g0076 a0171c0107t0001g0097 a0173c0114t0002g0288 a0175c0116t0001g0152 a0179c0121t0002g0101 a0180c0120t0002g0279 a0182c0128t0002g0269 a0183c0130t0002g0105 a0188c0074t0001g0092 a0189c0073t0001g0087 a0190c0151t0001g0168 a0191c0150t0001g0090 a0192c0137t0001g0078 a0193c0138t0001g0075 a0194c0136t0001g0107 a0195c0243t0003g0148 a0196c0207t0002g0153 a0197c0057t0001g0068 a0199c0069t0001g0226 a0201c0154t0001g0110 a0203c0210t0003g0149 a0204c0053t0001g0065 a0205c0245t0002g0067 a0206c0066t0001g0183 a0207c0206t0002g0223 a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114 a0211c0247t0002g0206	285	356	0.8006	c.750 others(4): Show c.7508A>C	p.Glu others(7): Show p.Glu2503Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7645/18335	7508/17388	2503/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947944	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.750 others(4): Show c.7507G>C	p.Glu others(7): Show p.Glu2503Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7644/18335	7507/17388	2503/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947953	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.749 others(4): Show c.7498A>G	p.Lys others(7): Show p.Lys2500Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7635/18335	7498/17388	2500/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947967	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.748 others(4): Show c.7484T>C	p.Val others(7): Show p.Val2495Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7621/18335	7484/17388	2495/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947971	C C	T T	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.748 others(4): Show c.7480G>A	p.Gly others(7): Show p.Gly2494Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7617/18335	7480/17388	2494/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947973	A A	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.747 others(4): Show c.7478T>A	p.Phe others(7): Show p.Phe2493Tyr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7615/18335	7478/17388	2493/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947979	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp2 HG03225.hp1 HG03540.hp1 others(1): Show HG03098.hp2 HG03225.hp1 HG03540.hp1 NA18906.hp2	a0034 a0132 a0195 a0034 a0132 a0195	a0034c0048 a0132c0236 a0195c0243 a0034c0048 a0132c0236 a0195c0243	a0034c0048t0003 a0132c0236t0003 a0195c0243t0003 a0034c0048t0003 a0132c0236t0003 a0195c0243t0003	a0034c0048t0003g0023 a0132c0236t0003g0147 a0195c0243t0003g0148 a0034c0048t0003g0023 a0132c0236t0003g0147 a0195c0243t0003g0148	4	356	0.0112	c.747 others(4): Show c.7472C>T	p.Pro others(7): Show p.Pro2491Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7609/18335	7472/17388	2491/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104947996	A A	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00738.hp1 HG01261.hp2 others(10): Show HG00642.hp2 HG00738.hp1 HG01261.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02148.hp2 HG02273.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0015 a0028 a0046 others(5): Show a0015 a0028 a0046 a0064 a0133 a0170 a0182 a0183	a0015c0035 a0015c0122 a0015c0125 others(7): Show a0015c0035 a0015c0122 a0015c0125 a0028c0019 a0046c0032 a0064c0165 a0133c0097 a0170c0105 a0182c0128 a0183c0130	a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 others(7): Show a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 a0028c0019t0009 a0046c0032t0002 a0064c0165t0001 a0133c0097t0001 a0170c0105t0002 a0182c0128t0002 a0183c0130t0002	a0015c0035t0002g0020 a0015c0122t0002g0102 a0015c0125t0002g0084 others(8): Show a0015c0035t0002g0020 a0015c0122t0002g0102 a0015c0125t0002g0084 a0028c0019t0009g0049 a0028c0019t0009g0050 a0046c0032t0002g0019 a0064c0165t0001g0247 a0133c0097t0001g0116 a0170c0105t0002g0076 a0182c0128t0002g0269 a0183c0130t0002g0105	13	356	0.0365	c.745 others(4): Show c.7455T>G	p.Ile others(7): Show p.Ile2485Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7592/18335	7455/17388	2485/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948006	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02896.hp1 others(4): Show HG01167.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1	a0028 a0064 a0069 others(3): Show a0028 a0064 a0069 a0080 a0081 a0133	a0028c0019 a0064c0165 a0069c0184 others(3): Show a0028c0019 a0064c0165 a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0028c0019t0009 a0064c0165t0001 a0069c0184t0002 others(3): Show a0028c0019t0009 a0064c0165t0001 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 others(4): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0064c0165t0001g0247 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	7	356	0.0197	c.744 others(4): Show c.7445G>A	p.Arg others(7): Show p.Arg2482Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7582/18335	7445/17388	2482/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948019	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.743 others(4): Show c.7432A>G	p.Thr others(7): Show p.Thr2478Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7569/18335	7432/17388	2478/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948027	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.742 others(4): Show c.7424A>G	p.Asp others(7): Show p.Asp2475Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7561/18335	7424/17388	2475/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948040	C C	G G	missense_variant missense_variant	MODERATE	HG00733.hp2 HG01123.hp2 HG01934.hp2 others(4): Show HG00733.hp2 HG01123.hp2 HG01934.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0028 a0048 a0064 others(2): Show a0028 a0048 a0064 a0133 a0175	a0028c0019 a0048c0034 a0064c0165 others(2): Show a0028c0019 a0048c0034 a0064c0165 a0133c0097 a0175c0116	a0028c0019t0009 a0048c0034t0001 a0048c0034t0011 others(3): Show a0028c0019t0009 a0048c0034t0001 a0048c0034t0011 a0064c0165t0001 a0133c0097t0001 a0175c0116t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0048c0034t0001g0054 others(4): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0048c0034t0001g0054 a0048c0034t0011g0151 a0064c0165t0001g0247 a0133c0097t0001g0116 a0175c0116t0001g0152	7	356	0.0197	c.741 others(4): Show c.7411G>C	p.Val others(7): Show p.Val2471Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7548/18335	7411/17388	2471/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948061	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.739 others(4): Show c.7390T>C	p.Trp others(7): Show p.Trp2464Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7527/18335	7390/17388	2464/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948082	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.736 others(4): Show c.7369G>A	p.Gly others(7): Show p.Gly2457Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	7506/18335	7369/17388	2457/5795	chr14	TogoVar

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