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	104950896	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.455 others(4): Show c.4555T>C	p.Ser others(7): Show p.Ser1519Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4692/18335	4555/17388	1519/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950896	A A	T T	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02897.hp1 HG03225.hp2 HG02896.hp2 HG02897.hp1 HG03225.hp2	a0044 a0169 a0044 a0169	a0044c0049 a0169c0237 a0044c0049 a0169c0237	a0044c0049t0003 a0169c0237t0003 a0044c0049t0003 a0169c0237t0003	a0044c0049t0003g0131 a0044c0049t0003g0133 a0169c0237t0003g0139 a0044c0049t0003g0131 a0044c0049t0003g0133 a0169c0237t0003g0139	3	356	0.0084	c.455 others(4): Show c.4555T>A	p.Ser others(7): Show p.Ser1519Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4692/18335	4555/17388	1519/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950899	C C	G G	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01167.hp2 HG01255.hp2 others(10): Show HG01099.hp2 HG01167.hp2 HG01255.hp2 HG01884.hp1 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG02717.hp2 HG03017.hp2 HG03041.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0026 a0061 a0069 others(9): Show a0026 a0061 a0069 a0071 a0072 a0073 a0074 a0075 a0080 a0081 a0085 a0089	a0026c0042 a0061c0166 a0069c0184 others(9): Show a0026c0042 a0061c0166 a0069c0184 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0085c0172 a0089c0196	a0026c0042t0002 a0061c0166t0002 a0069c0184t0002 others(9): Show a0026c0042t0002 a0061c0166t0002 a0069c0184t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0085c0172t0002 a0089c0196t0002	a0026c0042t0002g0124 a0026c0042t0002g0295 a0061c0166t0002g0293 others(10): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0061c0166t0002g0293 a0069c0184t0002g0209 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0085c0172t0002g0296 a0089c0196t0002g0198	13	356	0.0365	c.455 others(4): Show c.4552G>C	p.Val others(7): Show p.Val1518Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4689/18335	4552/17388	1518/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950904	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0133 a0133	a0133c0097 a0133c0097	a0133c0097t0001 a0133c0097t0001	a0133c0097t0001g0116 a0133c0097t0001g0116	1	356	0.0028	c.454 others(4): Show c.4547T>C	p.Val others(7): Show p.Val1516Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4684/18335	4547/17388	1516/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950913	T T	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0114 a0114	a0114c0225 a0114c0225	a0114c0225t0002 a0114c0225t0002	a0114c0225t0002g0234 a0114c0225t0002g0234	1	356	0.0028	c.453 others(4): Show c.4538A>C	p.Glu others(7): Show p.Glu1513Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4675/18335	4538/17388	1513/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950914	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02615.hp2 HG02622.hp2 others(8): Show HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03516.hp2 HG06807.hp1 NA18906.hp1	a0045 a0063 a0159 others(7): Show a0045 a0063 a0159 a0160 a0161 a0162 a0201 a0208 a0209 a0210	a0045c0024 a0063c0168 a0159c0141 others(7): Show a0045c0024 a0063c0168 a0159c0141 a0160c0078 a0161c0079 a0162c0077 a0201c0154 a0208c0056 a0209c0054 a0210c0055	a0045c0024t0001 a0063c0168t0001 a0159c0141t0001 others(7): Show a0045c0024t0001 a0063c0168t0001 a0159c0141t0001 a0160c0078t0001 a0161c0079t0012 a0162c0077t0001 a0201c0154t0001 a0208c0056t0003 a0209c0054t0003 a0210c0055t0003	a0045c0024t0001g0142 a0045c0024t0001g0143 a0063c0168t0001g0248 others(8): Show a0045c0024t0001g0142 a0045c0024t0001g0143 a0063c0168t0001g0248 a0159c0141t0001g0108 a0160c0078t0001g0117 a0161c0079t0012g0141 a0162c0077t0001g0094 a0201c0154t0001g0110 a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114	11	356	0.0309	c.453 others(4): Show c.4537G>C	p.Glu others(7): Show p.Glu1513Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4674/18335	4537/17388	1513/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950915	G G	C C	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0067 a0067	a0067c0058 a0067c0058	a0067c0058t0002 a0067c0058t0002	a0067c0058t0002g0302 a0067c0058t0002g0302	1	356	0.0028	c.453 others(4): Show c.4536C>G	p.Ile others(7): Show p.Ile1512Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4673/18335	4536/17388	1512/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950925	C C	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0101 a0101	a0101c0063 a0101c0063	a0101c0063t0002 a0101c0063t0002	a0101c0063t0002g0155 a0101c0063t0002g0155	1	356	0.0028	c.452 others(4): Show c.4526G>T	p.Gly others(7): Show p.Gly1509Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4663/18335	4526/17388	1509/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950934	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp2 HG01167.hp2 HG01255.hp2 others(8): Show HG01099.hp2 HG01167.hp2 HG01255.hp2 HG01884.hp1 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp2 NA20129.hp1	a0026 a0061 a0069 others(7): Show a0026 a0061 a0069 a0071 a0072 a0073 a0080 a0081 a0085 a0089	a0026c0042 a0061c0166 a0069c0184 others(7): Show a0026c0042 a0061c0166 a0069c0184 a0071c0177 a0072c0178 a0073c0171 a0080c0180 a0081c0173 a0085c0172 a0089c0196	a0026c0042t0002 a0061c0166t0002 a0069c0184t0002 others(7): Show a0026c0042t0002 a0061c0166t0002 a0069c0184t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0080c0180t0002 a0081c0173t0002 a0085c0172t0002 a0089c0196t0002	a0026c0042t0002g0124 a0026c0042t0002g0295 a0061c0166t0002g0293 others(8): Show a0026c0042t0002g0124 a0026c0042t0002g0295 a0061c0166t0002g0293 a0069c0184t0002g0209 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0080c0180t0002g0181 a0081c0173t0002g0180 a0085c0172t0002g0296 a0089c0196t0002g0198	11	356	0.0309	c.451 others(4): Show c.4517C>T	p.Ser others(7): Show p.Ser1506Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4654/18335	4517/17388	1506/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950937	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp2 HG03942.hp1 HG04184.hp2 HG02451.hp2 HG03942.hp1 HG04184.hp2	a0086 a0136 a0203 a0086 a0136 a0203	a0086c0188 a0136c0140 a0203c0210 a0086c0188 a0136c0140 a0203c0210	a0086c0188t0002 a0136c0140t0001 a0203c0210t0003 a0086c0188t0002 a0136c0140t0001 a0203c0210t0003	a0086c0188t0002g0182 a0136c0140t0001g0186 a0203c0210t0003g0149 a0086c0188t0002g0182 a0136c0140t0001g0186 a0203c0210t0003g0149	3	356	0.0084	c.451 others(4): Show c.4514T>C	p.Val others(7): Show p.Val1505Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4651/18335	4514/17388	1505/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950941	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02717.hp2 NA20129.hp2 HG02451.hp2 HG02717.hp2 NA20129.hp2	a0074 a0075 a0203 a0074 a0075 a0203	a0074c0179 a0075c0164 a0203c0210 a0074c0179 a0075c0164 a0203c0210	a0074c0179t0003 a0075c0164t0001 a0203c0210t0003 a0074c0179t0003 a0075c0164t0001 a0203c0210t0003	a0074c0179t0003g0297 a0075c0164t0001g0301 a0203c0210t0003g0149 a0074c0179t0003g0297 a0075c0164t0001g0301 a0203c0210t0003g0149	3	356	0.0084	c.451 others(4): Show c.4510G>A	p.Gly others(7): Show p.Gly1504Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4647/18335	4510/17388	1504/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950943	A A	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0203 a0203	a0203c0210 a0203c0210	a0203c0210t0003 a0203c0210t0003	a0203c0210t0003g0149 a0203c0210t0003g0149	1	356	0.0028	c.450 others(4): Show c.4508T>A	p.Phe others(7): Show p.Phe1503Tyr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4645/18335	4508/17388	1503/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950949	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02559.hp2 HG02615.hp1 others(11): Show HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03540.hp1 NA18906.hp2 NA20300.hp2	a0032 a0034 a0036 others(8): Show a0032 a0034 a0036 a0102 a0103 a0126 a0127 a0131 a0132 a0133 a0195	a0032c0050 a0034c0048 a0036c0030 others(8): Show a0032c0050 a0034c0048 a0036c0030 a0102c0064 a0103c0065 a0126c0240 a0127c0241 a0131c0235 a0132c0236 a0133c0097 a0195c0243	a0032c0050t0003 a0034c0048t0003 a0036c0030t0001 others(8): Show a0032c0050t0003 a0034c0048t0003 a0036c0030t0001 a0102c0064t0003 a0103c0065t0003 a0126c0240t0003 a0127c0241t0003 a0131c0235t0003 a0132c0236t0003 a0133c0097t0001 a0195c0243t0003	a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 others(9): Show a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0036c0030t0001g0018 a0102c0064t0003g0157 a0103c0065t0003g0156 a0126c0240t0003g0146 a0127c0241t0003g0138 a0131c0235t0003g0132 a0132c0236t0003g0147 a0133c0097t0001g0116 a0195c0243t0003g0148	14	356	0.0393	c.450 others(4): Show c.4502C>T	p.Pro others(7): Show p.Pro1501Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4639/18335	4502/17388	1501/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950966	C C	A A	missense_variant missense_variant	MODERATE	HG02630.hp1 NA18961.hp2 NA19012.hp1 HG02630.hp1 NA18961.hp2 NA19012.hp1	a0068 a0186 a0187 a0068 a0186 a0187	a0068c0169 a0186c0132 a0187c0131 a0068c0169 a0186c0132 a0187c0131	a0068c0169t0002 a0186c0132t0001 a0187c0131t0001 a0068c0169t0002 a0186c0132t0001 a0187c0131t0001	a0068c0169t0002g0071 a0186c0132t0001g0290 a0187c0131t0001g0289 a0068c0169t0002g0071 a0186c0132t0001g0290 a0187c0131t0001g0289	3	356	0.0084	c.448 others(4): Show c.4485G>T	p.Met others(7): Show p.Met1495Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4622/18335	4485/17388	1495/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950976	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG02056.hp1 HG02630.hp1 others(7): Show HG00609.hp1 HG02056.hp1 HG02630.hp1 HG02809.hp2 HG03130.hp1 HG03942.hp1 NA18954.hp1 NA18961.hp2 NA19012.hp1 NA19012.hp2	a0020 a0064 a0066 others(5): Show a0020 a0064 a0066 a0068 a0086 a0098 a0186 a0187	a0020c0018 a0064c0165 a0066c0202 others(5): Show a0020c0018 a0064c0165 a0066c0202 a0068c0169 a0086c0188 a0098c0204 a0186c0132 a0187c0131	a0020c0018t0002 a0064c0165t0001 a0066c0202t0005 others(5): Show a0020c0018t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0086c0188t0002 a0098c0204t0002 a0186c0132t0001 a0187c0131t0001	a0020c0018t0002g0009 a0064c0165t0001g0247 a0066c0202t0005g0203 others(5): Show a0020c0018t0002g0009 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0086c0188t0002g0182 a0098c0204t0002g0292 a0186c0132t0001g0290 a0187c0131t0001g0289	10	356	0.0281	c.447 others(4): Show c.4475A>G	p.Lys others(7): Show p.Lys1492Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4612/18335	4475/17388	1492/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950989	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(13): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(11): Show a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0114 a0133	a0020c0018 a0061c0166 a0064c0165 others(11): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225 a0133c0097	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(11): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(11): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	16	356	0.0449	c.446 others(4): Show c.4462A>G	p.Thr others(7): Show p.Thr1488Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4599/18335	4462/17388	1488/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950995	A A	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(13): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(11): Show a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0114 a0133	a0020c0018 a0061c0166 a0064c0165 others(11): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225 a0133c0097	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(11): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(11): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116	16	356	0.0449	c.445 others(4): Show c.4456T>G	p.Leu others(7): Show p.Leu1486Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4593/18335	4456/17388	1486/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951016	T T	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(13): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0020 a0061 a0064 others(11): Show a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0102 a0103	a0020c0018 a0061c0166 a0064c0165 others(11): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0102c0064 a0103c0065	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(11): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0102c0064t0003 a0103c0065t0003	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(11): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0102c0064t0003g0157 a0103c0065t0003g0156	16	356	0.0449	c.443 others(4): Show c.4435A>C	p.Met others(7): Show p.Met1479Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4572/18335	4435/17388	1479/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951021	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(15): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0020 a0061 a0064 others(13): Show a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0102 a0103 a0114 a0133	a0020c0018 a0061c0166 a0064c0165 others(13): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0102c0064 a0103c0065 a0114c0225 a0133c0097	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(13): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0102c0064t0003 a0103c0065t0003 a0114c0225t0002 a0133c0097t0001	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(13): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0102c0064t0003g0157 a0103c0065t0003g0156 a0114c0225t0002g0234 a0133c0097t0001g0116	18	356	0.0506	c.443 others(4): Show c.4430A>G	p.Glu others(7): Show p.Glu1477Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4567/18335	4430/17388	1477/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951023	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.442 others(4): Show c.4428G>C	p.Glu others(7): Show p.Glu1476Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4565/18335	4428/17388	1476/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951030	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.442 others(4): Show c.4421G>A	p.Arg others(7): Show p.Arg1474Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4558/18335	4421/17388	1474/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951033	C C	A A	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0060 a0060	a0060c0162 a0060c0162	a0060c0162t0006 a0060c0162t0006	a0060c0162t0006g0035 a0060c0162t0006g0035	1	356	0.0028	c.441 others(4): Show c.4418G>T	p.Gly others(7): Show p.Gly1473Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4555/18335	4418/17388	1473/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951033	C C	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(15): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02273.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA19030.hp1 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(13): Show a0020 a0061 a0064 a0066 a0067 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089 a0114 a0133 a0170	a0020c0018 a0061c0166 a0064c0165 others(13): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196 a0114c0225 a0133c0097 a0170c0105	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(13): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002 a0114c0225t0002 a0133c0097t0001 a0170c0105t0002	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(13): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198 a0114c0225t0002g0234 a0133c0097t0001g0116 a0170c0105t0002g0076	18	356	0.0506	c.441 others(4): Show c.4418G>C	p.Gly others(7): Show p.Gly1473Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4555/18335	4418/17388	1473/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951037	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG02056.hp1 HG02630.hp1 others(5): Show HG00609.hp1 HG02056.hp1 HG02630.hp1 HG03130.hp1 HG03942.hp1 HG04228.hp1 NA18954.hp1 NA19012.hp2	a0020 a0060 a0064 others(3): Show a0020 a0060 a0064 a0066 a0068 a0086	a0020c0018 a0060c0162 a0064c0165 others(3): Show a0020c0018 a0060c0162 a0064c0165 a0066c0202 a0068c0169 a0086c0188	a0020c0018t0002 a0060c0162t0006 a0064c0165t0001 others(3): Show a0020c0018t0002 a0060c0162t0006 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0086c0188t0002	a0020c0018t0002g0009 a0060c0162t0006g0035 a0064c0165t0001g0247 others(3): Show a0020c0018t0002g0009 a0060c0162t0006g0035 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0086c0188t0002g0182	8	356	0.0225	c.441 others(4): Show c.4414G>A	p.Gly others(7): Show p.Gly1472Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4551/18335	4414/17388	1472/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951059	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG01099.hp1 others(13): Show HG00438.hp2 HG00558.hp1 HG01099.hp1 HG01168.hp2 HG02698.hp2 HG02735.hp2 HG03710.hp2 HG03834.hp1 NA18951.hp1 NA18956.hp2 NA18970.hp1 NA18981.hp1 NA19005.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1	a0004 a0016 a0056 others(3): Show a0004 a0016 a0056 a0057 a0058 a0059	a0004c0005 a0004c0157 a0004c0158 others(6): Show a0004c0005 a0004c0157 a0004c0158 a0016c0041 a0016c0160 a0056c0159 a0057c0156 a0058c0155 a0059c0161	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(6): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0016c0041t0006 a0016c0160t0006 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(11): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128	16	356	0.0449	c.439 others(4): Show c.4392G>C	p.Glu others(7): Show p.Glu1464Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4529/18335	4392/17388	1464/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951061	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.439 others(4): Show c.4390G>C	p.Glu others(7): Show p.Glu1464Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4527/18335	4390/17388	1464/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951061	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03688.hp1 HG02630.hp2 HG03688.hp1	a0114 a0133 a0114 a0133	a0114c0225 a0133c0097 a0114c0225 a0133c0097	a0114c0225t0002 a0133c0097t0001 a0114c0225t0002 a0133c0097t0001	a0114c0225t0002g0234 a0133c0097t0001g0116 a0114c0225t0002g0234 a0133c0097t0001g0116	2	356	0.0056	c.439 others(4): Show c.4390G>A	p.Glu others(7): Show p.Glu1464Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4527/18335	4390/17388	1464/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951064	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(11): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(9): Show a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0020c0018 a0061c0166 a0064c0165 others(9): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(9): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(9): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	14	356	0.0393	c.438 others(4): Show c.4387G>A	p.Val others(7): Show p.Val1463Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4524/18335	4387/17388	1463/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951076	C C	T T	missense_variant missense_variant	MODERATE	HG02027.hp1 NA18981.hp2 HG02027.hp1 NA18981.hp2	a0035 a0035	a0035c0023 a0035c0023	a0035c0023t0002 a0035c0023t0002	a0035c0023t0002g0017 a0035c0023t0002g0017	2	356	0.0056	c.437 others(4): Show c.4375G>A	p.Val others(7): Show p.Val1459Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4512/18335	4375/17388	1459/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951092	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.435 others(4): Show c.4359G>T	p.Glu others(7): Show p.Glu1453Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4496/18335	4359/17388	1453/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951093	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.435 others(4): Show c.4358A>C	p.Glu others(7): Show p.Glu1453Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4495/18335	4358/17388	1453/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951098	A A	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.435 others(4): Show c.4353T>A	p.Asp others(7): Show p.Asp1451Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4490/18335	4353/17388	1451/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951102	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.434 others(4): Show c.4349C>A	p.Pro others(7): Show p.Pro1450His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4486/18335	4349/17388	1450/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951117	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(11): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0020 a0061 a0064 others(9): Show a0020 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0020c0018 a0061c0166 a0064c0165 others(9): Show a0020c0018 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 others(9): Show a0020c0018t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 others(9): Show a0020c0018t0002g0009 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	14	356	0.0393	c.433 others(4): Show c.4334T>C	p.Val others(7): Show p.Val1445Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4471/18335	4334/17388	1445/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951123	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.432 others(4): Show c.4328C>A	p.Pro others(7): Show p.Pro1443His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4465/18335	4328/17388	1443/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951126	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp1 others(5): Show HG01167.hp2 HG01884.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0068 a0069 others(5): Show a0061 a0068 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0068c0169 a0069c0184 others(5): Show a0061c0166 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0068c0169t0002 a0069c0184t0002 others(5): Show a0061c0166t0002 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0068c0169t0002g0071 a0069c0184t0002g0209 others(5): Show a0061c0166t0002g0293 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	8	356	0.0225	c.432 others(4): Show c.4325A>G	p.Asp others(7): Show p.Asp1442Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4462/18335	4325/17388	1442/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951127	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0068 a0068	a0068c0169 a0068c0169	a0068c0169t0002 a0068c0169t0002	a0068c0169t0002g0071 a0068c0169t0002g0071	1	356	0.0028	c.432 others(4): Show c.4324G>A	p.Asp others(7): Show p.Asp1442Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4461/18335	4324/17388	1442/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951150	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.430 others(4): Show c.4301A>G	p.Lys others(7): Show p.Lys1434Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4438/18335	4301/17388	1434/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951154	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.429 others(4): Show c.4297A>G	p.Ile others(7): Show p.Ile1433Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4434/18335	4297/17388	1433/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951155	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.429 others(4): Show c.4296C>A	p.Asp others(7): Show p.Asp1432Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4433/18335	4296/17388	1432/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951158	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.429 others(4): Show c.4293A>G	p.Ile others(7): Show p.Ile1431Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4430/18335	4293/17388	1431/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951160	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.429 others(4): Show c.4291A>G	p.Ile others(7): Show p.Ile1431Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4428/18335	4291/17388	1431/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951163	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.428 others(4): Show c.4288G>C	p.Glu others(7): Show p.Glu1430Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4425/18335	4288/17388	1430/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951166	G G	T T	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02451.hp2 HG02559.hp2 others(11): Show HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA20300.hp2	a0032 a0034 a0102 others(9): Show a0032 a0034 a0102 a0103 a0125 a0126 a0127 a0128 a0131 a0132 a0195 a0203	a0032c0050 a0034c0048 a0102c0064 others(9): Show a0032c0050 a0034c0048 a0102c0064 a0103c0065 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0131c0235 a0132c0236 a0195c0243 a0203c0210	a0032c0050t0003 a0034c0048t0003 a0102c0064t0003 others(9): Show a0032c0050t0003 a0034c0048t0003 a0102c0064t0003 a0103c0065t0003 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0131c0235t0003 a0132c0236t0003 a0195c0243t0003 a0203c0210t0003	a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 others(10): Show a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0102c0064t0003g0157 a0103c0065t0003g0156 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0131c0235t0003g0132 a0132c0236t0003g0147 a0195c0243t0003g0148 a0203c0210t0003g0149	14	356	0.0393	c.428 others(4): Show c.4285C>A	p.Pro others(7): Show p.Pro1429Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4422/18335	4285/17388	1429/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951175	G G	T T	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0136 a0136	a0136c0140 a0136c0140	a0136c0140t0001 a0136c0140t0001	a0136c0140t0001g0186 a0136c0140t0001g0186	1	356	0.0028	c.427 others(4): Show c.4276C>A	p.Leu others(7): Show p.Leu1426Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4413/18335	4276/17388	1426/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951177	T T	G G	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0125 a0125	a0125c0242 a0125c0242	a0125c0242t0003 a0125c0242t0003	a0125c0242t0003g0137 a0125c0242t0003g0137	1	356	0.0028	c.427 others(4): Show c.4274A>C	p.Asp others(7): Show p.Asp1425Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4411/18335	4274/17388	1425/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951190	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.426 others(4): Show c.4261G>A	p.Val others(7): Show p.Val1421Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4398/18335	4261/17388	1421/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951194	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.425 others(4): Show c.4257C>G	p.Phe others(7): Show p.Phe1419Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4394/18335	4257/17388	1419/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951211	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.424 others(4): Show c.4240C>G	p.Leu others(7): Show p.Leu1414Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4377/18335	4240/17388	1414/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951232	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(4): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 NA20129.hp1 NA20129.hp2	a0061 a0069 a0074 others(4): Show a0061 a0069 a0074 a0075 a0080 a0081 a0089	a0061c0166 a0069c0184 a0074c0179 others(4): Show a0061c0166 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0089c0196	a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 others(4): Show a0061c0166t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0089c0196t0002	a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 others(4): Show a0061c0166t0002g0293 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0089c0196t0002g0198	7	356	0.0197	c.421 others(4): Show c.4219C>T	p.Leu others(7): Show p.Leu1407Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4356/18335	4219/17388	1407/5795	chr14	TogoVar

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