Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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	104946383	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.906 others(4): Show c.9068C>A	p.Thr others(7): Show p.Thr3023Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9205/18335	9068/17388	3023/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946418	T T	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	352	0.0057	c.903 others(4): Show c.9033A>T	p.Glu others(7): Show p.Glu3011Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9170/18335	9033/17388	3011/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946418	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	352	0.0057	c.903 others(4): Show c.9033A>C	p.Glu others(7): Show p.Glu3011Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9170/18335	9033/17388	3011/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946447	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.900 others(4): Show c.9004G>C	p.Asp others(7): Show p.Asp3002His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9141/18335	9004/17388	3002/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946452	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.899 others(4): Show c.8999C>T	p.Ser others(7): Show p.Ser3000Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9136/18335	8999/17388	3000/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946455	A A	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.899 others(4): Show c.8996T>C	p.Val others(7): Show p.Val2999Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9133/18335	8996/17388	2999/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946527	T T	C C	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0099 a0099	a0099c0145 a0099c0145	a0099c0145t0003 a0099c0145t0003	a0099c0145t0003g0139 a0099c0145t0003g0139	1	354	0.0028	c.892 others(4): Show c.8924A>G	p.Asp others(7): Show p.Asp2975Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9061/18335	8924/17388	2975/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946575	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.887 others(4): Show c.8876G>A	p.Arg others(7): Show p.Arg2959Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9013/18335	8876/17388	2959/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946582	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.886 others(4): Show c.8869G>A	p.Gly others(7): Show p.Gly2957Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	9006/18335	8869/17388	2957/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946597	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.885 others(4): Show c.8854A>G	p.Arg others(7): Show p.Arg2952Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8991/18335	8854/17388	2952/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946606	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.884 others(4): Show c.8845G>C	p.Glu others(7): Show p.Glu2949Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8982/18335	8845/17388	2949/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946621	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.883 others(4): Show c.8830G>A	p.Val others(7): Show p.Val2944Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8967/18335	8830/17388	2944/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946624	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.882 others(4): Show c.8827A>G	p.Ser others(7): Show p.Ser2943Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8964/18335	8827/17388	2943/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946629	A A	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.882 others(4): Show c.8822T>A	p.Leu others(7): Show p.Leu2941Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8959/18335	8822/17388	2941/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946650	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.880 others(4): Show c.8801C>T	p.Ala others(7): Show p.Ala2934Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8938/18335	8801/17388	2934/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946658	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	352	0.0057	c.879 others(4): Show c.8793G>C	p.Glu others(7): Show p.Glu2931Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8930/18335	8793/17388	2931/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946663	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.878 others(4): Show c.8788G>A	p.Ala others(7): Show p.Ala2930Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8925/18335	8788/17388	2930/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946669	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.878 others(4): Show c.8782C>T	p.Pro others(7): Show p.Pro2928Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8919/18335	8782/17388	2928/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946671	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.878 others(4): Show c.8780G>T	p.Gly others(7): Show p.Gly2927Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8917/18335	8780/17388	2927/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946699	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.875 others(4): Show c.8752G>A	p.Val others(7): Show p.Val2918Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8889/18335	8752/17388	2918/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946703	T T	C C	missense_variant missense_variant	MODERATE	HG02273.hp2 HG02896.hp1 HG02897.hp2 HG02273.hp2 HG02896.hp1 HG02897.hp2	a0032 a0064 a0032 a0064	a0032c0021 a0064c0079 a0032c0021 a0064c0079	a0032c0021t0009 a0064c0079t0002 a0032c0021t0009 a0064c0079t0002	a0032c0021t0009g0058 a0032c0021t0009g0059 a0064c0079t0002g0085 a0032c0021t0009g0058 a0032c0021t0009g0059 a0064c0079t0002g0085	3	354	0.0085	c.874 others(4): Show c.8748A>G	p.Ile others(7): Show p.Ile2916Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8885/18335	8748/17388	2916/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946705	T T	C C	missense_variant missense_variant	MODERATE	HG02273.hp2 HG02896.hp1 HG02897.hp2 HG02273.hp2 HG02896.hp1 HG02897.hp2	a0032 a0064 a0032 a0064	a0032c0021 a0064c0079 a0032c0021 a0064c0079	a0032c0021t0009 a0064c0079t0002 a0032c0021t0009 a0064c0079t0002	a0032c0021t0009g0058 a0032c0021t0009g0059 a0064c0079t0002g0085 a0032c0021t0009g0058 a0032c0021t0009g0059 a0064c0079t0002g0085	3	354	0.0085	c.874 others(4): Show c.8746A>G	p.Ile others(7): Show p.Ile2916Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8883/18335	8746/17388	2916/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946719	A A	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.873 others(4): Show c.8732T>G	p.Leu others(7): Show p.Leu2911Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8869/18335	8732/17388	2911/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946731	G G	C C	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02976.hp2 HG02486.hp2 HG02976.hp2	a0068 a0085 a0068 a0085	a0068c0127 a0085c0084 a0068c0127 a0085c0084	a0068c0127t0002 a0085c0084t0002 a0068c0127t0002 a0085c0084t0002	a0068c0127t0002g0145 a0085c0084t0002g0100 a0068c0127t0002g0145 a0085c0084t0002g0100	2	354	0.0056	c.872 others(4): Show c.8720C>G	p.Pro others(7): Show p.Pro2907Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8857/18335	8720/17388	2907/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946739	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.871 others(4): Show c.8712C>G	p.Phe others(7): Show p.Phe2904Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8849/18335	8712/17388	2904/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946753	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.869 others(4): Show c.8698C>G	p.Gln others(7): Show p.Gln2900Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8835/18335	8698/17388	2900/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946756	C C	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.869 others(4): Show c.8695G>T	p.Val others(7): Show p.Val2899Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8832/18335	8695/17388	2899/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946770	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.868 others(4): Show c.8681G>A	p.Gly others(7): Show p.Gly2894Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8818/18335	8681/17388	2894/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946796	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.865 others(4): Show c.8655C>G	p.His others(7): Show p.His2885Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8792/18335	8655/17388	2885/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946816	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.863 others(4): Show c.8635G>C	p.Val others(7): Show p.Val2879Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8772/18335	8635/17388	2879/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946822	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.862 others(4): Show c.8629G>A	p.Val others(7): Show p.Val2877Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8766/18335	8629/17388	2877/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946840	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.861 others(4): Show c.8611G>A	p.Glu others(7): Show p.Glu2871Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8748/18335	8611/17388	2871/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946844	T T	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.860 others(4): Show c.8607A>C	p.Gln others(7): Show p.Gln2869His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8744/18335	8607/17388	2869/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946846	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.860 others(4): Show c.8605C>G	p.Gln others(7): Show p.Gln2869Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8742/18335	8605/17388	2869/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946861	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.859 others(4): Show c.8590C>G	p.Gln others(7): Show p.Gln2864Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8727/18335	8590/17388	2864/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946867	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(186): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0004 others(74): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0012 a0014 a0016 a0017 a0018 a0019 a0020 a0022 a0025 a0026 a0028 a0031 a0032 a0033 a0034 a0035 a0040 a0041 a0042 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0054 a0055 a0059 a0060 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0071 a0074 a0075 a0077 a0078 a0079 a0081 a0082 a0084 a0085 a0086 a0088 a0089 a0090 a0091 a0094 a0096 a0097 a0099 a0100 a0101 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0114 a0116	a0002c0003 a0002c0005 a0002c0036 others(93): Show a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0003c0004 a0003c0119 a0004c0006 a0005c0011 a0005c0017 a0005c0083 a0006c0007 a0008c0010 a0009c0009 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0014c0041 a0014c0081 a0014c0144 a0016c0019 a0016c0113 a0017c0013 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0020c0032 a0020c0110 a0022c0020 a0025c0030 a0026c0128 a0026c0129 a0028c0118 a0028c0120 a0031c0137 a0031c0138 a0032c0021 a0033c0025 a0034c0031 a0035c0035 a0040c0123 a0041c0053 a0042c0143 a0044c0131 a0045c0140 a0046c0102 a0047c0094 a0048c0112 a0049c0135 a0050c0106 a0054c0097 a0055c0096 a0059c0078 a0060c0142 a0062c0125 a0063c0111 a0064c0079 a0065c0088 a0066c0107 a0067c0130 a0068c0127 a0069c0136 a0071c0148 a0074c0103 a0075c0063 a0077c0105 a0078c0095 a0079c0043 a0081c0124 a0082c0047 a0084c0054 a0085c0084 a0086c0099 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0094c0139 a0096c0121 a0097c0122 a0099c0145 a0100c0093 a0101c0141 a0104c0149 a0105c0115 a0107c0082 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0112c0132 a0114c0101 a0116c0055	a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 others(96): Show a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0005c0011t0002 a0005c0017t0002 a0005c0083t0002 a0006c0007t0002 a0008c0010t0003 a0009c0009t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0014c0041t0003 a0014c0081t0003 a0014c0144t0003 a0016c0019t0005 a0016c0113t0002 a0017c0013t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0025c0030t0002 a0026c0128t0002 a0026c0129t0002 a0028c0118t0002 a0028c0120t0002 a0031c0137t0007 a0031c0138t0002 a0032c0021t0009 a0033c0025t0001 a0034c0031t0002 a0035c0035t0002 a0035c0035t0007 a0040c0123t0005 a0041c0053t0002 a0042c0143t0002 a0044c0131t0002 a0045c0140t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0049c0135t0002 a0050c0106t0002 a0054c0097t0002 a0055c0096t0001 a0059c0078t0002 a0060c0142t0002 a0062c0125t0002 a0063c0111t0002 a0064c0079t0002 a0065c0088t0001 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0069c0136t0002 a0071c0148t0002 a0074c0103t0002 a0075c0063t0001 a0077c0105t0002 a0078c0095t0001 a0079c0043t0001 a0081c0124t0002 a0082c0047t0001 a0084c0054t0003 a0085c0084t0002 a0086c0099t0001 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0096c0121t0002 a0097c0122t0002 a0099c0145t0003 a0100c0093t0010 a0101c0141t0002 a0104c0149t0002 a0105c0115t0002 a0107c0082t0002 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0112c0132t0015 a0114c0101t0003 a0116c0055t0003	a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 others(141): Show a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0005c0011t0002g0007 a0005c0011t0002g0090 a0005c0017t0002g0012 a0005c0083t0002g0232 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0009c0009t0002g0005 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0014c0041t0003g0030 a0014c0081t0003g0116 a0014c0144t0003g0128 a0016c0019t0005g0014 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0025c0030t0002g0026 a0026c0128t0002g0204 a0026c0129t0002g0205 a0028c0118t0002g0202 a0028c0120t0002g0179 a0031c0137t0007g0221 a0031c0138t0002g0222 a0032c0021t0009g0058 a0032c0021t0009g0059 a0033c0025t0001g0023 a0034c0031t0002g0169 a0034c0031t0002g0188 a0035c0035t0002g0075 a0035c0035t0007g0220 a0040c0123t0005g0182 a0041c0053t0002g0147 a0042c0143t0002g0076 a0044c0131t0002g0070 a0045c0140t0002g0253 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0049c0135t0002g0073 a0050c0106t0002g0250 a0054c0097t0002g0247 a0055c0096t0001g0255 a0059c0078t0002g0099 a0060c0142t0002g0225 a0062c0125t0002g0078 a0063c0111t0002g0137 a0064c0079t0002g0085 a0065c0088t0001g0096 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0069c0136t0002g0257 a0071c0148t0002g0083 a0074c0103t0002g0080 a0075c0063t0001g0111 a0077c0105t0002g0133 a0078c0095t0001g0254 a0079c0043t0001g0074 a0081c0124t0002g0246 a0082c0047t0001g0077 a0084c0054t0003g0149 a0085c0084t0002g0100 a0086c0099t0001g0216 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0096c0121t0002g0171 a0097c0122t0002g0180 a0099c0145t0003g0139 a0100c0093t0010g0055 a0101c0141t0002g0219 a0104c0149t0002g0185 a0105c0115t0002g0177 a0107c0082t0002g0244 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0112c0132t0015g0258 a0114c0101t0003g0251 a0116c0055t0003g0148	189	354	0.5339	c.858 others(4): Show c.8584C>A	p.Arg others(7): Show p.Arg2862Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8721/18335	8584/17388	2862/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946870	T T	G G	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02132.hp1 HG02896.hp1 others(1): Show HG02027.hp2 HG02132.hp1 HG02896.hp1 HG02897.hp2	a0027 a0032 a0027 a0032	a0027c0034 a0032c0021 a0027c0034 a0032c0021	a0027c0034t0002 a0032c0021t0009 a0027c0034t0002 a0032c0021t0009	a0027c0034t0002g0200 a0027c0034t0002g0201 a0032c0021t0009g0058 others(1): Show a0027c0034t0002g0200 a0027c0034t0002g0201 a0032c0021t0009g0058 a0032c0021t0009g0059	4	354	0.0113	c.858 others(4): Show c.8581A>C	p.Ile others(7): Show p.Ile2861Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8718/18335	8581/17388	2861/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946906	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02896.hp1 others(4): Show HG01167.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 NA20129.hp1	a0032 a0034 a0046 others(2): Show a0032 a0034 a0046 a0075 a0086	a0032c0021 a0034c0031 a0046c0102 others(2): Show a0032c0021 a0034c0031 a0046c0102 a0075c0063 a0086c0099	a0032c0021t0009 a0034c0031t0002 a0046c0102t0002 others(2): Show a0032c0021t0009 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 others(4): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0086c0099t0001g0216	7	354	0.0198	c.854 others(4): Show c.8545T>C	p.Phe others(7): Show p.Phe2849Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8682/18335	8545/17388	2849/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946908	C C	T T	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19005.hp1	a0109 a0109	a0109c0117 a0109c0117	a0109c0117t0005 a0109c0117t0005	a0109c0117t0005g0167 a0109c0117t0005g0167	1	354	0.0028	c.854 others(4): Show c.8543G>A	p.Ser others(7): Show p.Ser2848Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8680/18335	8543/17388	2848/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946911	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02896.hp1 others(5): Show HG01167.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 NA20129.hp1	a0032 a0034 a0046 others(3): Show a0032 a0034 a0046 a0075 a0086 a0088	a0032c0021 a0034c0031 a0046c0102 others(3): Show a0032c0021 a0034c0031 a0046c0102 a0075c0063 a0086c0099 a0088c0104	a0032c0021t0009 a0034c0031t0002 a0046c0102t0002 others(3): Show a0032c0021t0009 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0086c0099t0001 a0088c0104t0002	a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 others(5): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0086c0099t0001g0216 a0088c0104t0002g0215	8	354	0.0226	c.854 others(4): Show c.8540G>T	p.Gly others(7): Show p.Gly2847Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8677/18335	8540/17388	2847/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946912	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 HG03209.hp1 others(1): Show HG01167.hp2 HG03195.hp2 HG03209.hp1 NA20129.hp1	a0034 a0046 a0088 a0034 a0046 a0088	a0034c0031 a0046c0102 a0088c0104 a0034c0031 a0046c0102 a0088c0104	a0034c0031t0002 a0046c0102t0002 a0088c0104t0002 a0034c0031t0002 a0046c0102t0002 a0088c0104t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0088c0104t0002g0215	4	354	0.0113	c.853 others(4): Show c.8539G>A	p.Gly others(7): Show p.Gly2847Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8676/18335	8539/17388	2847/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946913	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.853 others(4): Show c.8538C>A	p.Asp others(7): Show p.Asp2846Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8675/18335	8538/17388	2846/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946929	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.852 others(4): Show c.8522T>C	p.Leu others(7): Show p.Leu2841Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8659/18335	8522/17388	2841/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946932	T T	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02896.hp1 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp1	a0032 a0075 a0086 a0032 a0075 a0086	a0032c0021 a0075c0063 a0086c0099 a0032c0021 a0075c0063 a0086c0099	a0032c0021t0009 a0075c0063t0001 a0086c0099t0001 a0032c0021t0009 a0075c0063t0001 a0086c0099t0001	a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 others(1): Show a0032c0021t0009g0058 a0032c0021t0009g0059 a0075c0063t0001g0111 a0086c0099t0001g0216	4	354	0.0113	c.851 others(4): Show c.8519A>C	p.Glu others(7): Show p.Glu2840Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8656/18335	8519/17388	2840/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946950	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.850 others(4): Show c.8501C>T	p.Ala others(7): Show p.Ala2834Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8638/18335	8501/17388	2834/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946953	T T	G G	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02809.hp1 HG02647.hp1 HG02809.hp1	a0021 a0080 a0021 a0080	a0021c0062 a0080c0061 a0021c0062 a0080c0061	a0021c0062t0001 a0080c0061t0001 a0021c0062t0001 a0080c0061t0001	a0021c0062t0001g0107 a0080c0061t0001g0106 a0021c0062t0001g0107 a0080c0061t0001g0106	2	354	0.0056	c.849 others(4): Show c.8498A>C	p.Glu others(7): Show p.Glu2833Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8635/18335	8498/17388	2833/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946955	G G	C C	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	352	0.0057	c.849 others(4): Show c.8496C>G	p.Ile others(7): Show p.Ile2832Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8633/18335	8496/17388	2832/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946963	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02965.hp2 HG03453.hp1 HG02809.hp2 HG02965.hp2 HG03453.hp1	a0081 a0083 a0090 a0081 a0083 a0090	a0081c0124 a0083c0073 a0090c0098 a0081c0124 a0083c0073 a0090c0098	a0081c0124t0002 a0083c0073t0001 a0090c0098t0002 a0081c0124t0002 a0083c0073t0001 a0090c0098t0002	a0081c0124t0002g0246 a0083c0073t0001g0094 a0090c0098t0002g0203 a0081c0124t0002g0246 a0083c0073t0001g0094 a0090c0098t0002g0203	3	354	0.0085	c.848 others(4): Show c.8488A>G	p.Lys others(7): Show p.Lys2830Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8625/18335	8488/17388	2830/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946965	C C	T T	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.848 others(4): Show c.8486G>A	p.Gly others(7): Show p.Gly2829Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8623/18335	8486/17388	2829/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104946981	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG02896.hp1 others(7): Show HG01167.hp1 HG01169.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03225.hp2 HG03486.hp1	a0001 a0015 a0023 others(2): Show a0001 a0015 a0023 a0032 a0083	a0001c0040 a0015c0014 a0023c0016 others(2): Show a0001c0040 a0015c0014 a0023c0016 a0032c0021 a0083c0073	a0001c0040t0001 a0015c0014t0003 a0023c0016t0001 others(2): Show a0001c0040t0001 a0015c0014t0003 a0023c0016t0001 a0032c0021t0009 a0083c0073t0001	a0001c0040t0001g0029 a0015c0014t0003g0079 a0015c0014t0003g0126 others(6): Show a0001c0040t0001g0029 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0023c0016t0001g0093 a0032c0021t0009g0058 a0032c0021t0009g0059 a0083c0073t0001g0094	10	354	0.0282	c.847 others(4): Show c.8470G>A	p.Gly others(7): Show p.Gly2824Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	8607/18335	8470/17388	2824/5795	chr14	TogoVar

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