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	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	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.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	a0008 a0014 a0067 others(4): Show a0008 a0014 a0067 a0084 a0089 a0099 a0116	a0008c0010 a0014c0041 a0014c0144 others(5): Show a0008c0010 a0014c0041 a0014c0144 a0067c0130 a0084c0054 a0089c0146 a0099c0145 a0116c0055	a0008c0010t0003 a0014c0041t0003 a0014c0144t0003 others(5): Show a0008c0010t0003 a0014c0041t0003 a0014c0144t0003 a0067c0130t0003 a0084c0054t0003 a0089c0146t0003 a0099c0145t0003 a0116c0055t0003	a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 others(8): Show a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0014c0041t0003g0030 a0014c0144t0003g0128 a0067c0130t0003g0141 a0084c0054t0003g0149 a0089c0146t0003g0140 a0099c0145t0003g0139 a0116c0055t0003g0148	14	354	0.0395	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	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	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	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0003 a0008c0010t0003	a0008c0010t0003g0013 a0008c0010t0003g0013	1	354	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	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.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	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.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	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.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	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.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
AHNAK2_chr14_104932253_104983374	104951237	G G	A A	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	354	0.0056	c.421 others(4): Show c.4214C>T	p.Ala others(7): Show p.Ala1405Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4351/18335	4214/17388	1405/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951240	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	354	0.0056	c.421 others(4): Show c.4211G>A	p.Gly others(7): Show p.Gly1404Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4348/18335	4211/17388	1404/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951244	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01168.hp2 HG02735.hp2 others(2): Show HG01099.hp1 HG01168.hp2 HG02735.hp2 HG03834.hp1 HG04228.hp1	a0010 a0047 a0010 a0047	a0010c0012 a0047c0094 a0010c0012 a0047c0094	a0010c0012t0006 a0047c0094t0013 a0010c0012t0006 a0047c0094t0013	a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 others(2): Show a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0047c0094t0013g0123	5	354	0.0141	c.420 others(4): Show c.4207G>A	p.Glu others(7): Show p.Glu1403Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4344/18335	4207/17388	1403/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951252	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.419 others(4): Show c.4199C>A	p.Pro others(7): Show p.Pro1400His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4336/18335	4199/17388	1400/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951261	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0075 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	9	354	0.0254	c.419 others(4): Show c.4190C>T	p.Pro others(7): Show p.Pro1397Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4327/18335	4190/17388	1397/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951271	C C	T T	missense_variant missense_variant	MODERATE	HG02004.hp2 HG02004.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0010 a0007c0008t0001g0010	1	354	0.0028	c.418 others(4): Show c.4180G>A	p.Val others(7): Show p.Val1394Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4317/18335	4180/17388	1394/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951277	A A	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0075 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	9	354	0.0254	c.417 others(4): Show c.4174T>G	p.Leu others(7): Show p.Leu1392Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4311/18335	4174/17388	1392/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951287	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.416 others(4): Show c.4164G>C	p.Gln others(7): Show p.Gln1388His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4301/18335	4164/17388	1388/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951292	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02630.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0075 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	9	354	0.0254	c.415 others(4): Show c.4159C>G	p.Leu others(7): Show p.Leu1387Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4296/18335	4159/17388	1387/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951295	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	354	0.0056	c.415 others(4): Show c.4156G>A	p.Glu others(7): Show p.Glu1386Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4293/18335	4156/17388	1386/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951298	G G	C C	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	354	0.0056	c.415 others(4): Show c.4153C>G	p.Leu others(7): Show p.Leu1385Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4290/18335	4153/17388	1385/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951304	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01192.hp2 HG01884.hp1 others(7): Show HG01167.hp2 HG01192.hp2 HG01884.hp1 HG02630.hp2 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0007 a0016 a0034 others(6): Show a0007 a0016 a0034 a0046 a0054 a0075 a0078 a0094 a0114	a0007c0008 a0016c0113 a0034c0031 others(6): Show a0007c0008 a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0075c0063 a0078c0095 a0094c0139 a0114c0101	a0007c0008t0001 a0016c0113t0002 a0034c0031t0002 others(6): Show a0007c0008t0001 a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0075c0063t0001 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0007c0008t0001g0193 a0016c0113t0002g0175 a0034c0031t0002g0169 others(7): Show a0007c0008t0001g0193 a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0075c0063t0001g0111 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	10	354	0.0282	c.414 others(4): Show c.4147A>G	p.Thr others(7): Show p.Thr1383Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4284/18335	4147/17388	1383/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951309	G G	A A	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	354	0.0056	c.414 others(4): Show c.4142C>T	p.Pro others(7): Show p.Pro1381Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4279/18335	4142/17388	1381/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951367	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG02723.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0078 a0079 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0079c0043 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0079c0043t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0079c0043t0001g0074 a0094c0139t0002g0207 a0114c0101t0003g0251	9	352	0.0256	c.408 others(4): Show c.4084A>G	p.Met others(7): Show p.Met1362Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4221/18335	4084/17388	1362/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951391	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.406 others(4): Show c.4060T>C	p.Ser others(7): Show p.Ser1354Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4197/18335	4060/17388	1354/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951394	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(6): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 HG06807.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(5): Show a0016 a0034 a0046 a0054 a0078 a0094 a0098 a0114	a0016c0113 a0034c0031 a0046c0102 others(5): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0098c0100 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(5): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0098c0100t0001 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0098c0100t0001g0217 a0114c0101t0003g0251	9	354	0.0254	c.405 others(4): Show c.4057C>G	p.Leu others(7): Show p.Leu1353Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4194/18335	4057/17388	1353/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951400	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0088 a0088	a0088c0104 a0088c0104	a0088c0104t0002 a0088c0104t0002	a0088c0104t0002g0215 a0088c0104t0002g0215	1	354	0.0028	c.405 others(4): Show c.4051G>A	p.Val others(7): Show p.Val1351Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4188/18335	4051/17388	1351/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951429	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(89): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA20300.hp2	a0003 a0004 a0006 others(38): Show a0003 a0004 a0006 a0008 a0010 a0012 a0014 a0017 a0020 a0027 a0028 a0032 a0041 a0047 a0048 a0050 a0063 a0066 a0067 a0068 a0071 a0077 a0079 a0081 a0084 a0085 a0088 a0089 a0090 a0091 a0098 a0099 a0100 a0104 a0105 a0106 a0108 a0109 a0110 a0111 a0116	a0003c0004 a0003c0119 a0004c0006 others(44): Show a0003c0004 a0003c0119 a0004c0006 a0006c0007 a0008c0010 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0014c0041 a0014c0144 a0017c0013 a0020c0032 a0020c0110 a0027c0034 a0028c0118 a0028c0120 a0032c0021 a0041c0053 a0047c0094 a0048c0112 a0050c0106 a0063c0111 a0066c0107 a0067c0130 a0068c0127 a0071c0148 a0077c0105 a0079c0043 a0081c0124 a0084c0054 a0085c0084 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0098c0100 a0099c0145 a0100c0093 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0116c0055	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(45): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0006c0007t0002 a0008c0010t0003 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0014c0041t0003 a0014c0144t0003 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0032c0021t0009 a0041c0053t0002 a0047c0094t0013 a0048c0112t0002 a0050c0106t0002 a0063c0111t0002 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0071c0148t0002 a0077c0105t0002 a0079c0043t0001 a0081c0124t0002 a0084c0054t0003 a0085c0084t0002 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0098c0100t0001 a0099c0145t0003 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0116c0055t0003	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(74): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0014c0041t0003g0030 a0014c0144t0003g0128 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0032c0021t0009g0058 a0032c0021t0009g0059 a0041c0053t0002g0147 a0047c0094t0013g0123 a0048c0112t0002g0151 a0050c0106t0002g0250 a0063c0111t0002g0137 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0071c0148t0002g0083 a0077c0105t0002g0133 a0079c0043t0001g0074 a0081c0124t0002g0246 a0084c0054t0003g0149 a0085c0084t0002g0100 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0098c0100t0001g0217 a0099c0145t0003g0139 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0116c0055t0003g0148	92	354	0.2599	c.402 others(4): Show c.4022C>T	p.Ser others(7): Show p.Ser1341Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4159/18335	4022/17388	1341/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951432	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02717.hp2 NA20129.hp2 HG01884.hp1 HG02717.hp2 NA20129.hp2	a0054 a0078 a0114 a0054 a0078 a0114	a0054c0097 a0078c0095 a0114c0101 a0054c0097 a0078c0095 a0114c0101	a0054c0097t0002 a0078c0095t0001 a0114c0101t0003 a0054c0097t0002 a0078c0095t0001 a0114c0101t0003	a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251 a0054c0097t0002g0247 a0078c0095t0001g0254 a0114c0101t0003g0251	3	354	0.0085	c.401 others(4): Show c.4019T>C	p.Val others(7): Show p.Val1340Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4156/18335	4019/17388	1340/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951436	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0055 a0055	a0055c0096 a0055c0096	a0055c0096t0001 a0055c0096t0001	a0055c0096t0001g0255 a0055c0096t0001g0255	1	354	0.0028	c.401 others(4): Show c.4015G>A	p.Gly others(7): Show p.Gly1339Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4152/18335	4015/17388	1339/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951444	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0034 a0034	a0034c0031 a0034c0031	a0034c0031t0002 a0034c0031t0002	a0034c0031t0002g0188 a0034c0031t0002g0188	1	354	0.0028	c.400 others(4): Show c.4007C>T	p.Pro others(7): Show p.Pro1336Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4144/18335	4007/17388	1336/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951471	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.398 others(4): Show c.3980A>G	p.Lys others(7): Show p.Lys1327Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4117/18335	3980/17388	1327/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951518	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	8	354	0.0226	c.393 others(4): Show c.3933C>G	p.Asp others(7): Show p.Asp1311Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4070/18335	3933/17388	1311/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951525	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	8	354	0.0226	c.392 others(4): Show c.3926A>G	p.Gln others(7): Show p.Gln1309Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4063/18335	3926/17388	1309/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951528	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.392 others(4): Show c.3923C>T	p.Ala others(7): Show p.Ala1308Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4060/18335	3923/17388	1308/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951532	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	8	354	0.0226	c.391 others(4): Show c.3919G>A	p.Gly others(7): Show p.Gly1307Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4056/18335	3919/17388	1307/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951556	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	8	354	0.0226	c.389 others(4): Show c.3895C>G	p.Gln others(7): Show p.Gln1299Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4032/18335	3895/17388	1299/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951557	C C	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(204): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1	a0001 a0003 a0004 others(76): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0020 a0021 a0023 a0027 a0028 a0029 a0030 a0032 a0033 a0034 a0039 a0041 a0046 a0047 a0048 a0050 a0051 a0052 a0054 a0055 a0056 a0057 a0063 a0065 a0066 a0067 a0068 a0070 a0071 a0072 a0073 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0098 a0099 a0100 a0103 a0104 a0105 a0106 a0108 a0109 a0110 a0111 a0114 a0116	a0001c0001 a0001c0002 a0001c0057 others(88): Show a0001c0001 a0001c0002 a0001c0057 a0001c0064 a0001c0077 a0003c0004 a0003c0119 a0004c0006 a0005c0017 a0006c0007 a0007c0008 a0008c0010 a0010c0012 a0011c0018 a0011c0089 a0012c0033 a0012c0108 a0012c0109 a0013c0060 a0014c0041 a0014c0081 a0014c0144 a0015c0014 a0016c0113 a0017c0013 a0020c0032 a0020c0110 a0021c0062 a0023c0016 a0027c0034 a0028c0118 a0028c0120 a0029c0024 a0030c0028 a0032c0021 a0033c0025 a0034c0031 a0039c0076 a0041c0053 a0046c0102 a0047c0094 a0048c0112 a0050c0106 a0051c0074 a0052c0049 a0054c0097 a0055c0096 a0056c0051 a0057c0070 a0063c0111 a0065c0088 a0066c0107 a0067c0130 a0068c0127 a0070c0045 a0071c0148 a0072c0044 a0073c0092 a0075c0063 a0076c0046 a0077c0105 a0078c0095 a0079c0043 a0080c0061 a0081c0124 a0082c0047 a0083c0073 a0084c0054 a0085c0084 a0087c0087 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0092c0066 a0093c0072 a0094c0139 a0095c0056 a0098c0100 a0099c0145 a0100c0093 a0103c0059 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0114c0101 a0116c0055	a0001c0001t0001 a0001c0002t0001 a0001c0057t0001 others(90): Show a0001c0001t0001 a0001c0002t0001 a0001c0057t0001 a0001c0064t0001 a0001c0077t0001 a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0005c0017t0002 a0006c0007t0002 a0007c0008t0001 a0007c0008t0014 a0008c0010t0003 a0010c0012t0006 a0011c0018t0001 a0011c0089t0001 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0013c0060t0001 a0014c0041t0003 a0014c0081t0003 a0014c0144t0003 a0015c0014t0003 a0016c0113t0002 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0021c0062t0001 a0023c0016t0001 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0029c0024t0001 a0030c0028t0001 a0032c0021t0009 a0033c0025t0001 a0034c0031t0002 a0039c0076t0001 a0041c0053t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0050c0106t0002 a0051c0074t0001 a0052c0049t0001 a0054c0097t0002 a0055c0096t0001 a0056c0051t0001 a0057c0070t0001 a0063c0111t0002 a0065c0088t0001 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0070c0045t0003 a0071c0148t0002 a0072c0044t0003 a0073c0092t0001 a0075c0063t0001 a0076c0046t0003 a0077c0105t0002 a0078c0095t0001 a0079c0043t0001 a0080c0061t0001 a0081c0124t0002 a0082c0047t0001 a0083c0073t0001 a0084c0054t0003 a0085c0084t0002 a0087c0087t0001 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0092c0066t0001 a0093c0072t0012 a0094c0139t0002 a0095c0056t0001 a0098c0100t0001 a0099c0145t0003 a0100c0093t0010 a0103c0059t0001 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0114c0101t0003 a0116c0055t0003	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 others(157): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0181 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0002t0001g0001 a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0230 a0001c0057t0001g0124 a0001c0064t0001g0191 a0001c0077t0001g0143 a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0005c0017t0002g0012 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0007c0008t0001g0010 a0007c0008t0001g0189 a0007c0008t0001g0193 a0007c0008t0014g0192 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0011c0018t0001g0084 a0011c0018t0001g0088 a0011c0018t0001g0102 a0011c0089t0001g0160 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0013c0060t0001g0118 a0014c0041t0003g0030 a0014c0081t0003g0116 a0014c0144t0003g0128 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0021c0062t0001g0107 a0023c0016t0001g0024 a0023c0016t0001g0093 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0029c0024t0001g0087 a0029c0024t0001g0248 a0030c0028t0001g0027 a0032c0021t0009g0058 a0032c0021t0009g0059 a0033c0025t0001g0023 a0034c0031t0002g0169 a0034c0031t0002g0188 a0039c0076t0001g0089 a0041c0053t0002g0147 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0050c0106t0002g0250 a0051c0074t0001g0190 a0052c0049t0001g0114 a0054c0097t0002g0247 a0055c0096t0001g0255 a0056c0051t0001g0097 a0057c0070t0001g0209 a0063c0111t0002g0137 a0065c0088t0001g0096 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0070c0045t0003g0130 a0071c0148t0002g0083 a0072c0044t0003g0109 a0073c0092t0001g0105 a0075c0063t0001g0111 a0076c0046t0003g0110 a0077c0105t0002g0133 a0078c0095t0001g0254 a0079c0043t0001g0074 a0080c0061t0001g0106 a0081c0124t0002g0246 a0082c0047t0001g0077 a0083c0073t0001g0094 a0084c0054t0003g0149 a0085c0084t0002g0100 a0087c0087t0001g0103 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0092c0066t0001g0108 a0093c0072t0012g0134 a0094c0139t0002g0207 a0095c0056t0001g0172 a0098c0100t0001g0217 a0099c0145t0003g0139 a0100c0093t0010g0055 a0103c0059t0001g0199 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0114c0101t0003g0251 a0116c0055t0003g0148	207	354	0.5847	c.389 others(4): Show c.3894G>C	p.Met others(7): Show p.Met1298Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4031/18335	3894/17388	1298/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951559	T T	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.389 others(4): Show c.3892A>G	p.Met others(7): Show p.Met1298Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4029/18335	3892/17388	1298/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951588	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	8	354	0.0226	c.386 others(4): Show c.3863C>A	p.Ala others(7): Show p.Ala1288Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	4000/18335	3863/17388	1288/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951593	T T	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	353	0.0198	c.385 others(4): Show c.3858A>T	p.Glu others(7): Show p.Glu1286Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3995/18335	3858/17388	1286/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951593	T T	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	347	0.0029	c.385 others(4): Show c.3858A>C	p.Glu others(7): Show p.Glu1286Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3995/18335	3858/17388	1286/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951597	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	8	354	0.0226	c.385 others(4): Show c.3854A>C	p.His others(7): Show p.His1285Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3991/18335	3854/17388	1285/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951603	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.384 others(4): Show c.3848C>T	p.Thr others(7): Show p.Thr1283Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3985/18335	3848/17388	1283/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951618	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01884.hp1 HG02717.hp2 others(5): Show HG01167.hp2 HG01884.hp1 HG02717.hp2 HG03017.hp2 HG03195.hp2 HG03688.hp1 NA20129.hp1 NA20129.hp2	a0016 a0034 a0046 others(4): Show a0016 a0034 a0046 a0054 a0078 a0094 a0114	a0016c0113 a0034c0031 a0046c0102 others(4): Show a0016c0113 a0034c0031 a0046c0102 a0054c0097 a0078c0095 a0094c0139 a0114c0101	a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 others(4): Show a0016c0113t0002 a0034c0031t0002 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0094c0139t0002 a0114c0101t0003	a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 others(5): Show a0016c0113t0002g0175 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0094c0139t0002g0207 a0114c0101t0003g0251	8	354	0.0226	c.383 others(4): Show c.3833A>C	p.His others(7): Show p.His1278Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3970/18335	3833/17388	1278/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951622	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(10): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0016 a0022 a0034 others(7): Show a0016 a0022 a0034 a0040 a0046 a0054 a0078 a0086 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(7): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0078c0095 a0086c0099 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(7): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(8): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251	13	354	0.0367	c.382 others(4): Show c.3829G>A	p.Gly others(7): Show p.Gly1277Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3966/18335	3829/17388	1277/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951645	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 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0016 a0022 a0034 others(8): Show a0016 a0022 a0034 a0040 a0046 a0054 a0078 a0086 a0094 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(8): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0078c0095 a0086c0099 a0094c0139 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(8): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(9): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0114c0101t0003g0251	14	354	0.0395	c.380 others(4): Show c.3806G>A	p.Arg others(7): Show p.Arg1269Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3943/18335	3806/17388	1269/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951650	T T	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(11): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03688.hp1 HG03942.hp1 NA18954.hp1 NA19012.hp2 NA20129.hp1 NA20129.hp2	a0016 a0022 a0034 others(8): Show a0016 a0022 a0034 a0040 a0046 a0054 a0078 a0086 a0094 a0096 a0114	a0016c0113 a0022c0020 a0034c0031 others(8): Show a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0078c0095 a0086c0099 a0094c0139 a0096c0121 a0114c0101	a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 others(8): Show a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0078c0095t0001 a0086c0099t0001 a0094c0139t0002 a0096c0121t0002 a0114c0101t0003	a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 others(9): Show a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0078c0095t0001g0254 a0086c0099t0001g0216 a0094c0139t0002g0207 a0096c0121t0002g0171 a0114c0101t0003g0251	14	354	0.0395	c.380 others(4): Show c.3801A>C	p.Glu others(7): Show p.Glu1267Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3938/18335	3801/17388	1267/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951655	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0094 a0094	a0094c0139 a0094c0139	a0094c0139t0002 a0094c0139t0002	a0094c0139t0002g0207 a0094c0139t0002g0207	1	354	0.0028	c.379 others(4): Show c.3796G>A	p.Val others(7): Show p.Val1266Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3933/18335	3796/17388	1266/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951670	G G	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(14): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0016 a0022 a0034 others(8): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0078 a0086 a0096 a0114	a0016c0019 a0016c0113 a0022c0020 others(9): Show a0016c0019 a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0078c0095 a0086c0099 a0096c0121 a0114c0101	a0016c0019t0005 a0016c0113t0002 a0022c0020t0002 others(9): Show a0016c0019t0005 a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0078c0095t0001 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003	a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(10): Show a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0078c0095t0001g0254 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251	17	354	0.0480	c.378 others(4): Show c.3781C>A	p.Leu others(7): Show p.Leu1261Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3918/18335	3781/17388	1261/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951672	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.377 others(4): Show c.3779A>C	p.Asp others(7): Show p.Asp1260Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3916/18335	3779/17388	1260/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951689	C C	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(14): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0016 a0022 a0034 others(8): Show a0016 a0022 a0034 a0040 a0046 a0054 a0074 a0078 a0086 a0096 a0114	a0016c0019 a0016c0113 a0022c0020 others(9): Show a0016c0019 a0016c0113 a0022c0020 a0034c0031 a0040c0123 a0046c0102 a0054c0097 a0074c0103 a0078c0095 a0086c0099 a0096c0121 a0114c0101	a0016c0019t0005 a0016c0113t0002 a0022c0020t0002 others(9): Show a0016c0019t0005 a0016c0113t0002 a0022c0020t0002 a0034c0031t0002 a0040c0123t0005 a0046c0102t0002 a0054c0097t0002 a0074c0103t0002 a0078c0095t0001 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003	a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 others(10): Show a0016c0019t0005g0014 a0016c0113t0002g0175 a0022c0020t0002g0015 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0046c0102t0002g0170 a0054c0097t0002g0247 a0074c0103t0002g0080 a0078c0095t0001g0254 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251	17	354	0.0480	c.376 others(4): Show c.3762G>C	p.Leu others(7): Show p.Leu1254Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3899/18335	3762/17388	1254/5795	chr14	TogoVar

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