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	104949654	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.579 others(4): Show c.5797C>G	p.Leu others(7): Show p.Leu1933Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5934/18335	5797/17388	1933/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949655	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.579 others(4): Show c.5796G>C	p.Lys others(7): Show p.Lys1932Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5933/18335	5796/17388	1932/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949660	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0069 a0080 a0081 others(2): Show a0069 a0080 a0081 a0086 a0133	a0069c0184 a0080c0180 a0081c0173 others(2): Show a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(2): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(2): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	5	356	0.0140	c.579 others(4): Show c.5791G>C	p.Ala others(7): Show p.Ala1931Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5928/18335	5791/17388	1931/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949674	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0069 a0080 a0081 others(2): Show a0069 a0080 a0081 a0086 a0133	a0069c0184 a0080c0180 a0081c0173 others(2): Show a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(2): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(2): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	5	356	0.0140	c.577 others(4): Show c.5777C>T	p.Thr others(7): Show p.Thr1926Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5914/18335	5777/17388	1926/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949692	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.575 others(4): Show c.5759A>C	p.Asp others(7): Show p.Asp1920Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5896/18335	5759/17388	1920/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949699	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.575 others(4): Show c.5752A>G	p.Lys others(7): Show p.Lys1918Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5889/18335	5752/17388	1918/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949709	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.574 others(4): Show c.5742C>G	p.Phe others(7): Show p.Phe1914Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5879/18335	5742/17388	1914/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949721	A A	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0069 a0080 a0081 others(2): Show a0069 a0080 a0081 a0086 a0133	a0069c0184 a0080c0180 a0081c0173 others(2): Show a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(2): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(2): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	5	356	0.0140	c.573 others(4): Show c.5730T>G	p.Asp others(7): Show p.Asp1910Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5867/18335	5730/17388	1910/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949723	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0069 a0080 a0081 others(2): Show a0069 a0080 a0081 a0086 a0133	a0069c0184 a0080c0180 a0081c0173 others(2): Show a0069c0184 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(2): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(2): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	5	356	0.0140	c.572 others(4): Show c.5728G>C	p.Asp others(7): Show p.Asp1910His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5865/18335	5728/17388	1910/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949726	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.572 others(4): Show c.5725G>C	p.Val others(7): Show p.Val1909Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5862/18335	5725/17388	1909/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949733	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.571 others(4): Show c.5718G>C	p.Leu others(7): Show p.Leu1906Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5855/18335	5718/17388	1906/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949747	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.570 others(4): Show c.5704C>T	p.Leu others(7): Show p.Leu1902Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5841/18335	5704/17388	1902/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949750	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(52): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01175.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02738.hp2 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1	a0006 a0009 a0010 others(31): Show a0006 a0009 a0010 a0017 a0019 a0020 a0027 a0035 a0053 a0057 a0061 a0062 a0066 a0077 a0078 a0079 a0082 a0083 a0084 a0087 a0088 a0089 a0090 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0114 a0149 a0207 a0211	a0006c0006 a0006c0200 a0009c0043 others(35): Show a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0017c0015 a0019c0016 a0020c0018 a0027c0189 a0027c0190 a0035c0023 a0053c0246 a0057c0156 a0061c0166 a0062c0167 a0066c0202 a0077c0182 a0078c0175 a0079c0183 a0082c0174 a0083c0176 a0084c0181 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0114c0225 a0149c0086 a0207c0206 a0211c0247	a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 others(35): Show a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0017c0015t0002 a0019c0016t0005 a0020c0018t0002 a0027c0189t0002 a0027c0190t0002 a0035c0023t0002 a0053c0246t0002 a0057c0156t0010 a0061c0166t0002 a0062c0167t0002 a0066c0202t0005 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0114c0225t0002 a0149c0086t0002 a0207c0206t0002 a0211c0247t0002	a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 others(43): Show a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0017c0015t0002g0030 a0017c0015t0002g0162 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0027c0189t0002g0227 a0027c0190t0002g0228 a0035c0023t0002g0017 a0053c0246t0002g0074 a0057c0156t0010g0046 a0061c0166t0002g0293 a0062c0167t0002g0230 a0066c0202t0005g0203 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0114c0225t0002g0234 a0149c0086t0002g0081 a0207c0206t0002g0223 a0211c0247t0002g0206	55	356	0.1545	c.570 others(4): Show c.5701G>A	p.Gly others(7): Show p.Gly1901Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5838/18335	5701/17388	1901/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949762	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0074 a0075 a0086 a0074 a0075 a0086	a0074c0179 a0075c0164 a0086c0188 a0074c0179 a0075c0164 a0086c0188	a0074c0179t0003 a0075c0164t0001 a0086c0188t0002 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	3	356	0.0084	c.568 others(4): Show c.5689C>T	p.Pro others(7): Show p.Pro1897Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5826/18335	5689/17388	1897/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949765	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.568 others(4): Show c.5686G>C	p.Val others(7): Show p.Val1896Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5823/18335	5686/17388	1896/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949766	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0074 a0075 a0086 a0074 a0075 a0086	a0074c0179 a0075c0164 a0086c0188 a0074c0179 a0075c0164 a0086c0188	a0074c0179t0003 a0075c0164t0001 a0086c0188t0002 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	3	356	0.0084	c.568 others(4): Show c.5685G>T	p.Gln others(7): Show p.Gln1895His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5822/18335	5685/17388	1895/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949766	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 others(1): Show a0069 a0080 a0081 a0133	a0069c0184 a0080c0180 a0081c0173 others(1): Show a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(1): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(1): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	4	356	0.0112	c.568 others(4): Show c.5685G>C	p.Gln others(7): Show p.Gln1895His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5822/18335	5685/17388	1895/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949767	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02717.hp2 HG03195.hp2 others(3): Show HG01167.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0069 a0074 a0075 others(3): Show a0069 a0074 a0075 a0080 a0081 a0086	a0069c0184 a0074c0179 a0075c0164 others(3): Show a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188	a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 others(3): Show a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002	a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 others(3): Show a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182	6	356	0.0169	c.568 others(4): Show c.5684A>C	p.Gln others(7): Show p.Gln1895Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5821/18335	5684/17388	1895/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949785	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0069 a0069	a0069c0184 a0069c0184	a0069c0184t0002 a0069c0184t0002	a0069c0184t0002g0209 a0069c0184t0002g0209	1	356	0.0028	c.566 others(4): Show c.5666T>C	p.Met others(7): Show p.Met1889Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5803/18335	5666/17388	1889/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949786	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0069 a0074 a0075 others(4): Show a0069 a0074 a0075 a0080 a0081 a0086 a0133	a0069c0184 a0074c0179 a0075c0164 others(4): Show a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 others(4): Show a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 others(4): Show a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	7	356	0.0197	c.566 others(4): Show c.5665A>G	p.Met others(7): Show p.Met1889Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5802/18335	5665/17388	1889/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949789	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.566 others(4): Show c.5662G>A	p.Asp others(7): Show p.Asp1888Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5799/18335	5662/17388	1888/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949809	A A	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(5): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03209.hp1 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0069 a0070 a0074 others(5): Show a0069 a0070 a0074 a0075 a0080 a0081 a0086 a0133	a0069c0184 a0070c0170 a0074c0179 others(5): Show a0069c0184 a0070c0170 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0070c0170t0002 a0074c0179t0003 others(5): Show a0069c0184t0002 a0070c0170t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0070c0170t0002g0246 a0074c0179t0003g0297 others(5): Show a0069c0184t0002g0209 a0070c0170t0002g0246 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	8	356	0.0225	c.564 others(4): Show c.5642T>A	p.Val others(7): Show p.Val1881Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5779/18335	5642/17388	1881/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949814	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.563 others(4): Show c.5637C>A	p.Asp others(7): Show p.Asp1879Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5774/18335	5637/17388	1879/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949816	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.563 others(4): Show c.5635G>C	p.Asp others(7): Show p.Asp1879His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5772/18335	5635/17388	1879/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949827	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0069 a0074 a0075 others(4): Show a0069 a0074 a0075 a0080 a0081 a0086 a0133	a0069c0184 a0074c0179 a0075c0164 others(4): Show a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 others(4): Show a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 others(4): Show a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	7	356	0.0197	c.562 others(4): Show c.5624T>C	p.Leu others(7): Show p.Leu1875Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5761/18335	5624/17388	1875/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949828	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 a0069 a0080 a0081	a0069c0184 a0080c0180 a0081c0173 a0069c0184 a0080c0180 a0081c0173	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0069c0184t0002 a0080c0180t0002 a0081c0173t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180	3	356	0.0084	c.562 others(4): Show c.5623C>T	p.Leu others(7): Show p.Leu1875Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5760/18335	5623/17388	1875/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949830	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0069 a0074 a0075 others(4): Show a0069 a0074 a0075 a0080 a0081 a0086 a0133	a0069c0184 a0074c0179 a0075c0164 others(4): Show a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0133c0097	a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 others(4): Show a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001	a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 others(4): Show a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116	7	356	0.0197	c.562 others(4): Show c.5621C>A	p.Pro others(7): Show p.Pro1874Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5758/18335	5621/17388	1874/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949837	A A	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 HG01167.hp2 HG02630.hp2 others(6): Show HG00673.hp2 HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 HG03942.hp2 NA20129.hp1 NA20129.hp2	a0065 a0069 a0074 others(6): Show a0065 a0069 a0074 a0075 a0080 a0081 a0086 a0133 a0152	a0065c0203 a0069c0184 a0074c0179 others(6): Show a0065c0203 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0133c0097 a0152c0146	a0065c0203t0002 a0069c0184t0002 a0074c0179t0003 others(6): Show a0065c0203t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0133c0097t0001 a0152c0146t0001	a0065c0203t0002g0201 a0069c0184t0002g0209 a0074c0179t0003g0297 others(6): Show a0065c0203t0002g0201 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0133c0097t0001g0116 a0152c0146t0001g0187	9	356	0.0253	c.561 others(4): Show c.5614T>A	p.Cys others(7): Show p.Cys1872Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5751/18335	5614/17388	1872/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949840	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.561 others(4): Show c.5611C>A	p.Leu others(7): Show p.Leu1871Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5748/18335	5611/17388	1871/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949849	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0074 a0075 a0086 a0074 a0075 a0086	a0074c0179 a0075c0164 a0086c0188 a0074c0179 a0075c0164 a0086c0188	a0074c0179t0003 a0075c0164t0001 a0086c0188t0002 a0074c0179t0003 a0075c0164t0001 a0086c0188t0002	a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182 a0074c0179t0003g0297 a0075c0164t0001g0301 a0086c0188t0002g0182	3	356	0.0084	c.560 others(4): Show c.5602A>G	p.Thr others(7): Show p.Thr1868Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5739/18335	5602/17388	1868/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949873	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0116 a0116	a0116c0229 a0116c0229	a0116c0229t0002 a0116c0229t0002	a0116c0229t0002g0233 a0116c0229t0002g0233	1	356	0.0028	c.557 others(4): Show c.5578C>T	p.Pro others(7): Show p.Pro1860Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5715/18335	5578/17388	1860/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949882	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.556 others(4): Show c.5569G>A	p.Val others(7): Show p.Val1857Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5706/18335	5569/17388	1857/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949883	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(237): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 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.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 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.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.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 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(144): Show a0001 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0029 a0030 a0031 a0034 a0035 a0037 a0038 a0039 a0040 a0041 a0043 a0044 a0045 a0046 a0051 a0052 a0053 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0065 a0066 a0068 a0069 a0070 a0071 a0072 a0073 a0077 a0078 a0080 a0081 a0082 a0083 a0085 a0086 a0087 a0088 a0089 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0103 a0104 a0105 a0107 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0118 a0119 a0122 a0123 a0124 a0129 a0130 a0132 a0134 a0135 a0136 a0139 a0141 a0142 a0143 a0144 a0145 a0146 a0147 a0148 a0149 a0150 a0151 a0152 a0153 a0154 a0155 a0156 a0157 a0158 a0159 a0160 a0161 a0162 a0163 a0164 a0169 a0171 a0172 a0186 a0188 a0189 a0190 a0192 a0193 a0194 a0195 a0196 a0197 a0199 a0201 a0203 a0204 a0205 a0206 a0207 a0208 a0209 a0210 a0211	a0001c0001 a0001c0003 a0001c0045 others(165): Show a0001c0001 a0001c0003 a0001c0045 a0004c0005 a0004c0157 a0004c0158 a0005c0013 a0005c0025 a0005c0027 a0005c0067 a0005c0091 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0011c0012 a0012c0036 a0012c0039 a0013c0010 a0014c0009 a0016c0041 a0016c0160 a0017c0015 a0019c0016 a0020c0018 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0027c0189 a0027c0190 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0034c0048 a0035c0023 a0037c0029 a0038c0037 a0039c0028 a0040c0038 a0041c0083 a0041c0099 a0043c0040 a0044c0049 a0045c0024 a0046c0032 a0051c0051 a0052c0208 a0052c0209 a0053c0246 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0065c0203 a0066c0202 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0077c0182 a0078c0175 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0099c0061 a0100c0062 a0101c0063 a0103c0065 a0104c0212 a0105c0211 a0107c0234 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0118c0230 a0119c0228 a0122c0213 a0123c0233 a0124c0071 a0129c0133 a0130c0075 a0132c0236 a0134c0096 a0135c0076 a0136c0140 a0139c0142 a0141c0092 a0142c0085 a0143c0087 a0144c0238 a0145c0089 a0146c0090 a0147c0088 a0148c0081 a0149c0086 a0150c0082 a0151c0145 a0152c0146 a0153c0147 a0154c0148 a0155c0084 a0156c0144 a0157c0080 a0158c0143 a0159c0141 a0160c0078 a0161c0079 a0162c0077 a0163c0098 a0164c0139 a0169c0237 a0171c0107 a0172c0124 a0186c0132 a0188c0074 a0189c0073 a0190c0151 a0192c0137 a0193c0138 a0194c0136 a0195c0243 a0196c0207 a0197c0057 a0199c0069 a0201c0154 a0203c0210 a0204c0053 a0205c0245 a0206c0066 a0207c0206 a0208c0056 a0209c0054 a0210c0055 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(166): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0005c0013t0001 a0005c0025t0001 a0005c0027t0001 a0005c0067t0001 a0005c0091t0001 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0011c0012t0002 a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 a0014c0009t0001 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0019c0016t0005 a0020c0018t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0034c0048t0003 a0035c0023t0002 a0037c0029t0001 a0038c0037t0001 a0039c0028t0001 a0039c0028t0014 a0040c0038t0001 a0041c0083t0001 a0041c0099t0001 a0043c0040t0001 a0044c0049t0003 a0045c0024t0001 a0046c0032t0002 a0051c0051t0001 a0052c0208t0002 a0052c0209t0002 a0053c0246t0002 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0065c0203t0002 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0077c0182t0003 a0078c0175t0002 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0099c0061t0001 a0100c0062t0002 a0101c0063t0002 a0103c0065t0003 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0118c0230t0002 a0119c0228t0002 a0122c0213t0015 a0123c0233t0002 a0124c0071t0001 a0129c0133t0001 a0130c0075t0002 a0132c0236t0003 a0134c0096t0001 a0135c0076t0001 a0136c0140t0001 a0139c0142t0001 a0141c0092t0001 a0142c0085t0001 a0143c0087t0001 a0144c0238t0003 a0145c0089t0001 a0146c0090t0001 a0147c0088t0001 a0148c0081t0001 a0149c0086t0002 a0150c0082t0001 a0151c0145t0001 a0152c0146t0001 a0153c0147t0001 a0154c0148t0001 a0155c0084t0001 a0156c0144t0001 a0157c0080t0003 a0158c0143t0001 a0159c0141t0001 a0160c0078t0001 a0161c0079t0012 a0162c0077t0001 a0163c0098t0001 a0164c0139t0001 a0169c0237t0003 a0171c0107t0001 a0172c0124t0001 a0186c0132t0001 a0188c0074t0001 a0189c0073t0001 a0190c0151t0001 a0192c0137t0001 a0193c0138t0001 a0194c0136t0001 a0195c0243t0003 a0196c0207t0002 a0197c0057t0001 a0199c0069t0001 a0201c0154t0001 a0203c0210t0003 a0204c0053t0001 a0205c0245t0002 a0206c0066t0001 a0207c0206t0002 a0208c0056t0003 a0209c0054t0003 a0210c0055t0003 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(200): 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 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0011c0012t0002g0006 a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 a0013c0010t0001g0004 a0014c0009t0001g0025 a0014c0009t0001g0167 a0014c0009t0001g0171 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0034c0048t0003g0023 a0035c0023t0002g0017 a0037c0029t0001g0079 a0037c0029t0001g0294 a0038c0037t0001g0027 a0039c0028t0001g0214 a0039c0028t0014g0215 a0040c0038t0001g0174 a0040c0038t0001g0189 a0041c0083t0001g0216 a0041c0099t0001g0217 a0043c0040t0001g0172 a0043c0040t0001g0191 a0044c0049t0003g0131 a0044c0049t0003g0133 a0045c0024t0001g0142 a0045c0024t0001g0143 a0046c0032t0002g0019 a0051c0051t0001g0024 a0052c0208t0002g0231 a0052c0209t0002g0232 a0053c0246t0002g0074 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0065c0203t0002g0201 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0077c0182t0003g0170 a0078c0175t0002g0192 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0099c0061t0001g0091 a0100c0062t0002g0154 a0101c0063t0002g0155 a0103c0065t0003g0156 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0118c0230t0002g0262 a0119c0228t0002g0258 a0122c0213t0015g0304 a0123c0233t0002g0299 a0124c0071t0001g0123 a0129c0133t0001g0052 a0130c0075t0002g0093 a0132c0236t0003g0147 a0134c0096t0001g0218 a0135c0076t0001g0213 a0136c0140t0001g0186 a0139c0142t0001g0127 a0141c0092t0001g0096 a0142c0085t0001g0212 a0143c0087t0001g0085 a0144c0238t0003g0070 a0145c0089t0001g0080 a0146c0090t0001g0113 a0147c0088t0001g0082 a0148c0081t0001g0283 a0149c0086t0002g0081 a0150c0082t0001g0088 a0151c0145t0001g0165 a0152c0146t0001g0187 a0153c0147t0001g0188 a0154c0148t0001g0265 a0155c0084t0001g0211 a0156c0144t0001g0158 a0157c0080t0003g0121 a0158c0143t0001g0169 a0159c0141t0001g0108 a0160c0078t0001g0117 a0161c0079t0012g0141 a0162c0077t0001g0094 a0163c0098t0001g0122 a0164c0139t0001g0185 a0169c0237t0003g0139 a0171c0107t0001g0097 a0172c0124t0001g0225 a0186c0132t0001g0290 a0188c0074t0001g0092 a0189c0073t0001g0087 a0190c0151t0001g0168 a0192c0137t0001g0078 a0193c0138t0001g0075 a0194c0136t0001g0107 a0195c0243t0003g0148 a0196c0207t0002g0153 a0197c0057t0001g0068 a0199c0069t0001g0226 a0201c0154t0001g0110 a0203c0210t0003g0149 a0204c0053t0001g0065 a0205c0245t0002g0067 a0206c0066t0001g0183 a0207c0206t0002g0223 a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114 a0211c0247t0002g0206	240	356	0.6742	c.556 others(4): Show c.5568A>T	p.Glu others(7): Show p.Glu1856Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5705/18335	5568/17388	1856/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949883	T T	G G	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02258.hp2 HG02280.hp1 others(16): Show HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp2	a0028 a0032 a0036 others(13): Show a0028 a0032 a0036 a0064 a0067 a0074 a0075 a0076 a0102 a0125 a0126 a0127 a0128 a0131 a0133 a0191	a0028c0019 a0032c0050 a0036c0030 others(13): Show a0028c0019 a0032c0050 a0036c0030 a0064c0165 a0067c0058 a0074c0179 a0075c0164 a0076c0163 a0102c0064 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0131c0235 a0133c0097 a0191c0150	a0028c0019t0009 a0032c0050t0003 a0036c0030t0001 others(13): Show a0028c0019t0009 a0032c0050t0003 a0036c0030t0001 a0064c0165t0001 a0067c0058t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0102c0064t0003 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0131c0235t0003 a0133c0097t0001 a0191c0150t0001	a0028c0019t0009g0049 a0028c0019t0009g0050 a0032c0050t0003g0136 others(15): Show a0028c0019t0009g0049 a0028c0019t0009g0050 a0032c0050t0003g0136 a0032c0050t0003g0145 a0036c0030t0001g0018 a0064c0165t0001g0247 a0067c0058t0002g0302 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0102c0064t0003g0157 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0131c0235t0003g0132 a0133c0097t0001g0116 a0191c0150t0001g0090	19	356	0.0534	c.556 others(4): Show c.5568A>C	p.Glu others(7): Show p.Glu1856Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5705/18335	5568/17388	1856/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949893	A A	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00558.hp2 HG00609.hp2 others(55): Show HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02922.hp1 HG03209.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19065.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19091.hp1	a0006 a0010 a0012 others(32): Show a0006 a0010 a0012 a0013 a0020 a0032 a0036 a0038 a0040 a0043 a0087 a0088 a0091 a0092 a0093 a0097 a0125 a0126 a0127 a0128 a0131 a0136 a0139 a0151 a0152 a0153 a0154 a0156 a0158 a0171 a0186 a0190 a0191 a0199 a0206	a0006c0006 a0006c0200 a0010c0011 others(34): Show a0006c0006 a0006c0200 a0010c0011 a0012c0036 a0012c0039 a0013c0010 a0020c0018 a0032c0050 a0036c0030 a0038c0037 a0040c0038 a0043c0040 a0087c0187 a0088c0198 a0091c0193 a0092c0191 a0093c0192 a0097c0201 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0131c0235 a0136c0140 a0139c0142 a0151c0145 a0152c0146 a0153c0147 a0154c0148 a0156c0144 a0158c0143 a0171c0107 a0186c0132 a0190c0151 a0191c0150 a0199c0069 a0206c0066	a0006c0006t0002 a0006c0200t0002 a0010c0011t0002 others(34): Show a0006c0006t0002 a0006c0200t0002 a0010c0011t0002 a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 a0020c0018t0002 a0032c0050t0003 a0036c0030t0001 a0038c0037t0001 a0040c0038t0001 a0043c0040t0001 a0087c0187t0002 a0088c0198t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0097c0201t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0131c0235t0003 a0136c0140t0001 a0139c0142t0001 a0151c0145t0001 a0152c0146t0001 a0153c0147t0001 a0154c0148t0001 a0156c0144t0001 a0158c0143t0001 a0171c0107t0001 a0186c0132t0001 a0190c0151t0001 a0191c0150t0001 a0199c0069t0001 a0206c0066t0001	a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 others(43): Show a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 a0013c0010t0001g0004 a0020c0018t0002g0009 a0032c0050t0003g0136 a0032c0050t0003g0145 a0036c0030t0001g0018 a0038c0037t0001g0027 a0040c0038t0001g0174 a0040c0038t0001g0189 a0043c0040t0001g0172 a0043c0040t0001g0191 a0087c0187t0002g0208 a0088c0198t0002g0175 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0097c0201t0002g0200 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0131c0235t0003g0132 a0136c0140t0001g0186 a0139c0142t0001g0127 a0151c0145t0001g0165 a0152c0146t0001g0187 a0153c0147t0001g0188 a0154c0148t0001g0265 a0156c0144t0001g0158 a0158c0143t0001g0169 a0171c0107t0001g0097 a0186c0132t0001g0290 a0190c0151t0001g0168 a0191c0150t0001g0090 a0199c0069t0001g0226 a0206c0066t0001g0183	58	356	0.1629	c.555 others(4): Show c.5558T>C	p.Val others(7): Show p.Val1853Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5695/18335	5558/17388	1853/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949899	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.555 others(4): Show c.5552C>T	p.Pro others(7): Show p.Pro1851Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5689/18335	5552/17388	1851/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949900	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.555 others(4): Show c.5551C>T	p.Pro others(7): Show p.Pro1851Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5688/18335	5551/17388	1851/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949902	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0069 a0080 a0081 others(1): Show a0069 a0080 a0081 a0133	a0069c0184 a0080c0180 a0081c0173 others(1): Show a0069c0184 a0080c0180 a0081c0173 a0133c0097	a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 others(1): Show a0069c0184t0002 a0080c0180t0002 a0081c0173t0002 a0133c0097t0001	a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 others(1): Show a0069c0184t0002g0209 a0080c0180t0002g0181 a0081c0173t0002g0180 a0133c0097t0001g0116	4	356	0.0112	c.554 others(4): Show c.5549C>A	p.Ala others(7): Show p.Ala1850Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5686/18335	5549/17388	1850/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949914	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0064 a0064	a0064c0165 a0064c0165	a0064c0165t0001 a0064c0165t0001	a0064c0165t0001g0247 a0064c0165t0001g0247	1	356	0.0028	c.553 others(4): Show c.5537T>C	p.Val others(7): Show p.Val1846Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5674/18335	5537/17388	1846/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949917	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 NA19030.hp2 HG02630.hp2 NA19030.hp2	a0100 a0133 a0100 a0133	a0100c0062 a0133c0097 a0100c0062 a0133c0097	a0100c0062t0002 a0133c0097t0001 a0100c0062t0002 a0133c0097t0001	a0100c0062t0002g0154 a0133c0097t0001g0116 a0100c0062t0002g0154 a0133c0097t0001g0116	2	356	0.0056	c.553 others(4): Show c.5534C>T	p.Ser others(7): Show p.Ser1845Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5671/18335	5534/17388	1845/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949920	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0079 a0079	a0079c0183 a0079c0183	a0079c0183t0003 a0079c0183t0003	a0079c0183t0003g0164 a0079c0183t0003g0164	1	356	0.0028	c.553 others(4): Show c.5531C>T	p.Ala others(7): Show p.Ala1844Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5668/18335	5531/17388	1844/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949920	G G	T T	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2	a0031 a0119 a0031 a0119	a0031c0046 a0119c0228 a0031c0046 a0119c0228	a0031c0046t0002 a0119c0228t0002 a0031c0046t0002 a0119c0228t0002	a0031c0046t0002g0250 a0031c0046t0002g0257 a0119c0228t0002g0258 a0031c0046t0002g0250 a0031c0046t0002g0257 a0119c0228t0002g0258	3	356	0.0084	c.553 others(4): Show c.5531C>A	p.Ala others(7): Show p.Ala1844Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5668/18335	5531/17388	1844/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949923	T T	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG03942.hp1 HG01884.hp1 HG03942.hp1	a0061 a0086 a0061 a0086	a0061c0166 a0086c0188 a0061c0166 a0086c0188	a0061c0166t0002 a0086c0188t0002 a0061c0166t0002 a0086c0188t0002	a0061c0166t0002g0293 a0086c0188t0002g0182 a0061c0166t0002g0293 a0086c0188t0002g0182	2	356	0.0056	c.552 others(4): Show c.5528A>C	p.Glu others(7): Show p.Glu1843Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5665/18335	5528/17388	1843/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949925	G G	C C	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02965.hp2 HG03491.hp1 others(3): Show HG02698.hp1 HG02965.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2 NA18970.hp1	a0031 a0058 a0118 others(2): Show a0031 a0058 a0118 a0119 a0150	a0031c0046 a0058c0155 a0118c0230 others(2): Show a0031c0046 a0058c0155 a0118c0230 a0119c0228 a0150c0082	a0031c0046t0002 a0058c0155t0004 a0118c0230t0002 others(2): Show a0031c0046t0002 a0058c0155t0004 a0118c0230t0002 a0119c0228t0002 a0150c0082t0001	a0031c0046t0002g0250 a0031c0046t0002g0257 a0058c0155t0004g0047 others(3): Show a0031c0046t0002g0250 a0031c0046t0002g0257 a0058c0155t0004g0047 a0118c0230t0002g0262 a0119c0228t0002g0258 a0150c0082t0001g0088	6	356	0.0169	c.552 others(4): Show c.5526C>G	p.Ile others(7): Show p.Ile1842Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5663/18335	5526/17388	1842/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949932	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02723.hp2 HG03225.hp1 HG00639.hp1 HG02723.hp2 HG03225.hp1	a0101 a0195 a0204 a0101 a0195 a0204	a0101c0063 a0195c0243 a0204c0053 a0101c0063 a0195c0243 a0204c0053	a0101c0063t0002 a0195c0243t0003 a0204c0053t0001 a0101c0063t0002 a0195c0243t0003 a0204c0053t0001	a0101c0063t0002g0155 a0195c0243t0003g0148 a0204c0053t0001g0065 a0101c0063t0002g0155 a0195c0243t0003g0148 a0204c0053t0001g0065	3	356	0.0084	c.551 others(4): Show c.5519A>G	p.Lys others(7): Show p.Lys1840Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5656/18335	5519/17388	1840/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949933	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.551 others(4): Show c.5518A>G	p.Lys others(7): Show p.Lys1840Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5655/18335	5518/17388	1840/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949935	C C	T T	missense_variant missense_variant	MODERATE	HG00733.hp1 HG02109.hp1 HG03209.hp1 HG00733.hp1 HG02109.hp1 HG03209.hp1	a0055 a0070 a0205 a0055 a0070 a0205	a0055c0205 a0070c0170 a0205c0245 a0055c0205 a0070c0170 a0205c0245	a0055c0205t0002 a0070c0170t0002 a0205c0245t0002 a0055c0205t0002 a0070c0170t0002 a0205c0245t0002	a0055c0205t0002g0069 a0070c0170t0002g0246 a0205c0245t0002g0067 a0055c0205t0002g0069 a0070c0170t0002g0246 a0205c0245t0002g0067	3	356	0.0084	c.551 others(4): Show c.5516G>A	p.Gly others(7): Show p.Gly1839Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5653/18335	5516/17388	1839/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949947	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00621.hp1 HG00673.hp2 others(22): Show HG00609.hp2 HG00621.hp1 HG00673.hp2 HG01074.hp1 HG01192.hp2 HG01981.hp2 HG02004.hp2 HG02074.hp2 HG02129.hp2 HG02155.hp1 HG02273.hp2 HG03704.hp2 HG04184.hp2 HG04228.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18963.hp1 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1	a0012 a0013 a0038 others(14): Show a0012 a0013 a0038 a0039 a0111 a0134 a0135 a0136 a0142 a0151 a0152 a0156 a0158 a0170 a0171 a0199 a0206	a0012c0036 a0012c0039 a0013c0010 others(15): Show a0012c0036 a0012c0039 a0013c0010 a0038c0037 a0039c0028 a0111c0232 a0134c0096 a0135c0076 a0136c0140 a0142c0085 a0151c0145 a0152c0146 a0156c0144 a0158c0143 a0170c0105 a0171c0107 a0199c0069 a0206c0066	a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 others(16): Show a0012c0036t0001 a0012c0039t0001 a0013c0010t0001 a0038c0037t0001 a0039c0028t0001 a0039c0028t0014 a0111c0232t0002 a0134c0096t0001 a0135c0076t0001 a0136c0140t0001 a0142c0085t0001 a0151c0145t0001 a0152c0146t0001 a0156c0144t0001 a0158c0143t0001 a0170c0105t0002 a0171c0107t0001 a0199c0069t0001 a0206c0066t0001	a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 others(17): Show a0012c0036t0001g0026 a0012c0039t0001g0161 a0012c0039t0001g0190 a0013c0010t0001g0004 a0038c0037t0001g0027 a0039c0028t0001g0214 a0039c0028t0014g0215 a0111c0232t0002g0066 a0134c0096t0001g0218 a0135c0076t0001g0213 a0136c0140t0001g0186 a0142c0085t0001g0212 a0151c0145t0001g0165 a0152c0146t0001g0187 a0156c0144t0001g0158 a0158c0143t0001g0169 a0170c0105t0002g0076 a0171c0107t0001g0097 a0199c0069t0001g0226 a0206c0066t0001g0183	25	356	0.0702	c.550 others(4): Show c.5504T>C	p.Val others(7): Show p.Val1835Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5641/18335	5504/17388	1835/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949951	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.550 others(4): Show c.5500G>A	p.Gly others(7): Show p.Gly1834Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5637/18335	5500/17388	1834/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949959	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp2 HG06807.hp1 HG03130.hp1 HG03130.hp2 HG06807.hp1	a0063 a0064 a0159 a0063 a0064 a0159	a0063c0168 a0064c0165 a0159c0141 a0063c0168 a0064c0165 a0159c0141	a0063c0168t0001 a0064c0165t0001 a0159c0141t0001 a0063c0168t0001 a0064c0165t0001 a0159c0141t0001	a0063c0168t0001g0248 a0064c0165t0001g0247 a0159c0141t0001g0108 a0063c0168t0001g0248 a0064c0165t0001g0247 a0159c0141t0001g0108	3	356	0.0084	c.549 others(4): Show c.5492C>T	p.Pro others(7): Show p.Pro1831Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5629/18335	5492/17388	1831/5795	chr14	TogoVar

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