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	104950824	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.462 others(4): Show c.4627A>G	p.Ile others(7): Show p.Ile1543Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4764/18335	4627/17388	1543/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950839	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02055.hp2 others(10): Show HG01167.hp2 HG01884.hp1 HG02055.hp2 HG02056.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0012 a0016 a0022 others(7): Show a0012 a0016 a0022 a0034 a0046 a0054 a0075 a0078 a0096 a0114	a0012c0109 a0016c0113 a0022c0020 others(7): Show a0012c0109 a0016c0113 a0022c0020 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0078c0095 a0096c0121 a0114c0101	a0012c0109t0003 a0016c0113t0002 a0022c0020t0002 others(7): Show a0012c0109t0003 a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0012c0109t0003g0082 a0016c0113t0002g0175 a0022c0020t0002g0015 others(8): Show a0012c0109t0003g0082 a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	13	352	0.0369	c.461 others(4): Show c.4612G>A	p.Ala others(7): Show p.Ala1538Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4749/18335	4612/17388	1538/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950863	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02976.hp2 HG03688.hp1 others(2): Show HG02486.hp2 HG02976.hp2 HG03688.hp1 NA19005.hp1 NA20300.hp2	a0068 a0085 a0094 others(2): Show a0068 a0085 a0094 a0109 a0116	a0068c0127 a0085c0084 a0094c0139 others(2): Show a0068c0127 a0085c0084 a0094c0139 a0109c0117 a0116c0055	a0068c0127t0002 a0085c0084t0002 a0094c0139t0002 others(2): Show a0068c0127t0002 a0085c0084t0002 a0094c0139t0002 a0109c0117t0005 a0116c0055t0003	a0068c0127t0002g0145 a0085c0084t0002g0100 a0094c0139t0002g0207 others(2): Show a0068c0127t0002g0145 a0085c0084t0002g0100 a0094c0139t0002g0207 a0109c0117t0005g0167 a0116c0055t0003g0148	5	354	0.0141	c.458 others(4): Show c.4588C>T	p.Pro others(7): Show p.Pro1530Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4725/18335	4588/17388	1530/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950871	A A	C C	missense_variant missense_variant	MODERATE	HG02165.hp1 HG03688.hp1 NA18980.hp1 others(3): Show HG02165.hp1 HG03688.hp1 NA18980.hp1 NA19000.hp1 NA19007.hp1 NA19011.hp2	a0001 a0011 a0094 a0001 a0011 a0094	a0001c0001 a0001c0002 a0011c0089 others(1): Show a0001c0001 a0001c0002 a0011c0089 a0094c0139	a0001c0001t0001 a0001c0002t0001 a0011c0089t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0011c0089t0001 a0094c0139t0002	a0001c0001t0001g0003 a0001c0002t0001g0122 a0011c0089t0001g0160 others(1): Show a0001c0001t0001g0003 a0001c0002t0001g0122 a0011c0089t0001g0160 a0094c0139t0002g0207	6	354	0.0169	c.458 others(4): Show c.4580T>G	p.Val others(7): Show p.Val1527Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4717/18335	4580/17388	1527/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950872	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	353	0.0198	c.457 others(4): Show c.4579G>A	p.Val others(7): Show p.Val1527Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4716/18335	4579/17388	1527/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950883	A A	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.456 others(4): Show c.4568T>C	p.Val others(7): Show p.Val1523Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4705/18335	4568/17388	1523/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950889	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.456 others(4): Show c.4562C>T	p.Pro others(7): Show p.Pro1521Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4699/18335	4562/17388	1521/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950890	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.456 others(4): Show c.4561C>T	p.Pro others(7): Show p.Pro1521Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4698/18335	4561/17388	1521/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104950896	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	351	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	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0003 a0015c0014t0003	a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132	3	353	0.0085	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	a0016 a0020 a0034 others(7): Show a0016 a0020 a0034 a0046 a0050 a0054 a0063 a0077 a0078 a0114	a0016c0113 a0020c0032 a0020c0110 others(8): Show a0016c0113 a0020c0032 a0020c0110 a0034c0031 a0046c0102 a0050c0106 a0054c0097 a0063c0111 a0077c0105 a0078c0095 a0114c0101	a0016c0113t0002 a0020c0032t0002 a0020c0110t0002 others(8): Show a0016c0113t0002 a0020c0032t0002 a0020c0110t0002 a0034c0031t0002 a0046c0102t0002 a0050c0106t0002 a0054c0097t0002 a0063c0111t0002 a0077c0105t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0020c0032t0002g0119 a0020c0032t0002g0249 others(10): Show a0016c0113t0002g0175 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0050c0106t0002g0250 a0054c0097t0002g0247 a0063c0111t0002g0137 a0077c0105t0002g0133 a0078c0095t0001g0254 a0114c0101t0003g0251	13	354	0.0367	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	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	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	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	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	a0001 a0070 a0072 others(5): Show a0001 a0070 a0072 a0073 a0076 a0087 a0093 a0098	a0001c0001 a0070c0045 a0072c0044 others(5): Show a0001c0001 a0070c0045 a0072c0044 a0073c0092 a0076c0046 a0087c0087 a0093c0072 a0098c0100	a0001c0001t0001 a0070c0045t0003 a0072c0044t0003 others(5): Show a0001c0001t0001 a0070c0045t0003 a0072c0044t0003 a0073c0092t0001 a0076c0046t0003 a0087c0087t0001 a0093c0072t0012 a0098c0100t0001	a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0135 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0136 a0070c0045t0003g0130 a0072c0044t0003g0109 a0073c0092t0001g0105 a0076c0046t0003g0110 a0087c0087t0001g0103 a0093c0072t0012g0134 a0098c0100t0001g0217	11	354	0.0311	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	a0110 a0110	a0110c0048 a0110c0048	a0110c0048t0002 a0110c0048t0002	a0110c0048t0002g0256 a0110c0048t0002g0256	1	340	0.0029	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	a0041 a0041	a0041c0053 a0041c0053	a0041c0053t0002 a0041c0053t0002	a0041c0053t0002g0147 a0041c0053t0002g0147	1	354	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	a0016 a0020 a0034 others(5): Show a0016 a0020 a0034 a0046 a0050 a0054 a0063 a0077	a0016c0113 a0020c0032 a0020c0110 others(6): Show a0016c0113 a0020c0032 a0020c0110 a0034c0031 a0046c0102 a0050c0106 a0054c0097 a0063c0111 a0077c0105	a0016c0113t0002 a0020c0032t0002 a0020c0110t0002 others(6): Show a0016c0113t0002 a0020c0032t0002 a0020c0110t0002 a0034c0031t0002 a0046c0102t0002 a0050c0106t0002 a0054c0097t0002 a0063c0111t0002 a0077c0105t0002	a0016c0113t0002g0175 a0020c0032t0002g0119 a0020c0032t0002g0249 others(8): Show a0016c0113t0002g0175 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0050c0106t0002g0250 a0054c0097t0002g0247 a0063c0111t0002g0137 a0077c0105t0002g0133	11	354	0.0311	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	a0001 a0067 a0096 a0001 a0067 a0096	a0001c0002 a0067c0130 a0096c0121 a0001c0002 a0067c0130 a0096c0121	a0001c0002t0001 a0067c0130t0003 a0096c0121t0002 a0001c0002t0001 a0067c0130t0003 a0096c0121t0002	a0001c0002t0001g0001 a0067c0130t0003g0141 a0096c0121t0002g0171 a0001c0002t0001g0001 a0067c0130t0003g0141 a0096c0121t0002g0171	3	354	0.0085	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	a0067 a0078 a0114 a0067 a0078 a0114	a0067c0130 a0078c0095 a0114c0101 a0067c0130 a0078c0095 a0114c0101	a0067c0130t0003 a0078c0095t0001 a0114c0101t0003 a0067c0130t0003 a0078c0095t0001 a0114c0101t0003	a0067c0130t0003g0141 a0078c0095t0001g0254 a0114c0101t0003g0251 a0067c0130t0003g0141 a0078c0095t0001g0254 a0114c0101t0003g0251	3	354	0.0085	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	a0067 a0067	a0067c0130 a0067c0130	a0067c0130t0003 a0067c0130t0003	a0067c0130t0003g0141 a0067c0130t0003g0141	1	354	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	a0008 a0014 a0033 others(5): Show a0008 a0014 a0033 a0075 a0084 a0089 a0099 a0116	a0008c0010 a0014c0041 a0014c0144 others(6): Show a0008c0010 a0014c0041 a0014c0144 a0033c0025 a0075c0063 a0084c0054 a0089c0146 a0099c0145 a0116c0055	a0008c0010t0003 a0014c0041t0003 a0014c0144t0003 others(6): Show a0008c0010t0003 a0014c0041t0003 a0014c0144t0003 a0033c0025t0001 a0075c0063t0001 a0084c0054t0003 a0089c0146t0003 a0099c0145t0003 a0116c0055t0003	a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 others(9): Show a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0014c0041t0003g0030 a0014c0144t0003g0128 a0033c0025t0001g0023 a0075c0063t0001g0111 a0084c0054t0003g0149 a0089c0146t0003g0140 a0099c0145t0003g0139 a0116c0055t0003g0148	14	353	0.0397	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	a0036 a0074 a0036 a0074	a0036c0029 a0074c0103 a0036c0029 a0074c0103	a0036c0029t0001 a0074c0103t0002 a0036c0029t0001 a0074c0103t0002	a0036c0029t0001g0043 a0074c0103t0002g0080 a0036c0029t0001g0043 a0074c0103t0002g0080	3	354	0.0085	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	a0022 a0036 a0040 others(4): Show a0022 a0036 a0040 a0074 a0081 a0086 a0096	a0022c0020 a0036c0029 a0040c0123 others(4): Show a0022c0020 a0036c0029 a0040c0123 a0074c0103 a0081c0124 a0086c0099 a0096c0121	a0022c0020t0002 a0036c0029t0001 a0040c0123t0005 others(4): Show a0022c0020t0002 a0036c0029t0001 a0040c0123t0005 a0074c0103t0002 a0081c0124t0002 a0086c0099t0001 a0096c0121t0002	a0022c0020t0002g0015 a0036c0029t0001g0043 a0040c0123t0005g0182 others(4): Show a0022c0020t0002g0015 a0036c0029t0001g0043 a0040c0123t0005g0182 a0074c0103t0002g0080 a0081c0124t0002g0246 a0086c0099t0001g0216 a0096c0121t0002g0171	10	354	0.0282	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	a0016 a0022 a0034 others(10): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0075 a0078 a0086 a0094 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(10): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0075c0063 a0078c0095 a0086c0099 a0094c0139 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(10): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0075c0063t0001 a0078c0095t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(11): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0075c0063t0001g0111 a0078c0095t0001g0254 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0114c0101t0003g0251	16	354	0.0452	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	a0016 a0022 a0034 others(10): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0075 a0078 a0086 a0094 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(10): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0075c0063 a0078c0095 a0086c0099 a0094c0139 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(10): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0075c0063t0001 a0078c0095t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(11): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0075c0063t0001g0111 a0078c0095t0001g0254 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0114c0101t0003g0251	16	354	0.0452	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	a0016 a0022 a0034 others(10): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0078 a0084 a0086 a0096 a0114 a0116	a0016c0113 a0022c0020 a0034c0031 others(10): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0078c0095 a0084c0054 a0086c0099 a0096c0121 a0114c0101 a0116c0055	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(10): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0078c0095t0001 a0084c0054t0003 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003 a0116c0055t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(11): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0078c0095t0001g0254 a0084c0054t0003g0149 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251 a0116c0055t0003g0148	16	354	0.0452	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	a0016 a0022 a0034 others(12): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0075 a0078 a0084 a0086 a0094 a0096 a0114 a0116	a0016c0113 a0022c0020 a0034c0031 others(12): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0075c0063 a0078c0095 a0084c0054 a0086c0099 a0094c0139 a0096c0121 a0114c0101 a0116c0055	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(12): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0075c0063t0001 a0078c0095t0001 a0084c0054t0003 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0114c0101t0003 a0116c0055t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(13): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0075c0063t0001g0111 a0078c0095t0001g0254 a0084c0054t0003g0149 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0114c0101t0003g0251 a0116c0055t0003g0148	18	354	0.0508	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0010 a0010	a0010c0012 a0010c0012	a0010c0012t0006 a0010c0012t0006	a0010c0012t0006g0045 a0010c0012t0006g0045	1	336	0.0030	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	a0016 a0022 a0034 others(12): Show a0016 a0022 a0034 a0040 a0046 a0054 a0064 a0074 a0075 a0078 a0086 a0094 a0096 a0110 a0114	a0016c0113 a0022c0020 a0034c0031 others(12): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0064c0079 a0074c0103 a0075c0063 a0078c0095 a0086c0099 a0094c0139 a0096c0121 a0110c0048 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(12): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0064c0079t0002 a0074c0103t0002 a0075c0063t0001 a0078c0095t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0110c0048t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(13): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0064c0079t0002g0085 a0074c0103t0002g0080 a0075c0063t0001g0111 a0078c0095t0001g0254 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0110c0048t0002g0256 a0114c0101t0003g0251	18	353	0.0510	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	a0010 a0022 a0040 others(3): Show a0010 a0022 a0040 a0074 a0086 a0096	a0010c0012 a0022c0020 a0040c0123 others(3): Show a0010c0012 a0022c0020 a0040c0123 a0074c0103 a0086c0099 a0096c0121	a0010c0012t0006 a0022c0020t0002 a0040c0123t0005 others(3): Show a0010c0012t0006 a0022c0020t0002 a0040c0123t0005 a0074c0103t0002 a0086c0099t0001 a0096c0121t0002	a0010c0012t0006g0045 a0022c0020t0002g0015 a0040c0123t0005g0182 others(3): Show a0010c0012t0006g0045 a0022c0020t0002g0015 a0040c0123t0005g0182 a0074c0103t0002g0080 a0086c0099t0001g0216 a0096c0121t0002g0171	8	354	0.0226	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 a0010 a0047 others(1): Show a0004 a0010 a0047 a0100	a0004c0006 a0010c0012 a0047c0094 others(1): Show a0004c0006 a0010c0012 a0047c0094 a0100c0093	a0004c0006t0004 a0010c0012t0006 a0047c0094t0013 others(1): Show a0004c0006t0004 a0010c0012t0006 a0047c0094t0013 a0100c0093t0010	a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 others(10): Show a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0047c0094t0013g0123 a0100c0093t0010g0055	16	354	0.0452	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	352	0.0199	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	a0075 a0094 a0075 a0094	a0075c0063 a0094c0139 a0075c0063 a0094c0139	a0075c0063t0001 a0094c0139t0002 a0075c0063t0001 a0094c0139t0002	a0075c0063t0001g0111 a0094c0139t0002g0207 a0075c0063t0001g0111 a0094c0139t0002g0207	2	347	0.0058	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	a0016 a0022 a0034 others(8): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0078 a0086 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(8): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0078c0095 a0086c0099 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(8): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0078c0095t0001 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(9): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0078c0095t0001g0254 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251	14	354	0.0395	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	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0002 a0005c0017t0002	a0005c0017t0002g0012 a0005c0017t0002g0012	2	354	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0022 a0034 others(8): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0078 a0086 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(8): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0078c0095 a0086c0099 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(8): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0078c0095t0001 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(9): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0078c0095t0001g0254 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251	14	354	0.0395	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0074 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0074c0103 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0078c0095t0001g0254 a0114c0101t0003g0251	8	354	0.0226	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	a0074 a0074	a0074c0103 a0074c0103	a0074c0103t0002 a0074c0103t0002	a0074c0103t0002g0080 a0074c0103t0002g0080	1	354	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	353	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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	a0016 a0034 a0046 others(3): Show a0016 a0034 a0046 a0054 a0078 a0114	a0016c0113 a0034c0031 a0046c0102 others(3): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(3): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(4): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	7	354	0.0198	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

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