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	104949596	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 NA18945.hp2 NA18998.hp2 others(2): Show HG00609.hp1 NA18945.hp2 NA18998.hp2 NA19005.hp1 NA19058.hp2	a0003 a0040 a0109 a0003 a0040 a0109	a0003c0004 a0040c0123 a0109c0117 a0003c0004 a0040c0123 a0109c0117	a0003c0004t0005 a0040c0123t0005 a0109c0117t0005 a0003c0004t0005 a0040c0123t0005 a0109c0117t0005	a0003c0004t0005g0031 a0003c0004t0005g0166 a0040c0123t0005g0182 others(1): Show a0003c0004t0005g0031 a0003c0004t0005g0166 a0040c0123t0005g0182 a0109c0117t0005g0167	5	354	0.0141	c.585 others(4): Show c.5855C>T	p.Pro others(7): Show p.Pro1952Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5992/18335	5855/17388	1952/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949597	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0075 a0096 a0075 a0096	a0075c0063 a0096c0121 a0075c0063 a0096c0121	a0075c0063t0001 a0096c0121t0002 a0075c0063t0001 a0096c0121t0002	a0075c0063t0001g0111 a0096c0121t0002g0171 a0075c0063t0001g0111 a0096c0121t0002g0171	2	354	0.0056	c.585 others(4): Show c.5854C>T	p.Pro others(7): Show p.Pro1952Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5991/18335	5854/17388	1952/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949606	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0075 a0096 a0075 a0096	a0075c0063 a0096c0121 a0075c0063 a0096c0121	a0075c0063t0001 a0096c0121t0002 a0075c0063t0001 a0096c0121t0002	a0075c0063t0001g0111 a0096c0121t0002g0171 a0075c0063t0001g0111 a0096c0121t0002g0171	2	354	0.0056	c.584 others(4): Show c.5845G>A	p.Val others(7): Show p.Val1949Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5982/18335	5845/17388	1949/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949609	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03942.hp1 HG02630.hp2 HG03942.hp1	a0075 a0096 a0075 a0096	a0075c0063 a0096c0121 a0075c0063 a0096c0121	a0075c0063t0001 a0096c0121t0002 a0075c0063t0001 a0096c0121t0002	a0075c0063t0001g0111 a0096c0121t0002g0171 a0075c0063t0001g0111 a0096c0121t0002g0171	2	354	0.0056	c.584 others(4): Show c.5842G>A	p.Glu others(7): Show p.Glu1948Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5979/18335	5842/17388	1948/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949611	A A	C C	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03098.hp1 HG03471.hp1 HG02451.hp1 HG03098.hp1 HG03471.hp1	a0012 a0066 a0012 a0066	a0012c0033 a0066c0107 a0012c0033 a0066c0107	a0012c0033t0003 a0066c0107t0002 a0012c0033t0003 a0066c0107t0002	a0012c0033t0003g0156 a0012c0033t0003g0162 a0066c0107t0002g0174 a0012c0033t0003g0156 a0012c0033t0003g0162 a0066c0107t0002g0174	3	354	0.0085	c.584 others(4): Show c.5840T>G	p.Val others(7): Show p.Val1947Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5977/18335	5840/17388	1947/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949623	G G	A A	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.582 others(4): Show c.5828C>T	p.Thr others(7): Show p.Thr1943Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5965/18335	5828/17388	1943/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949627	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp1 NA20300.hp2 HG02976.hp1 NA20300.hp2	a0084 a0116 a0084 a0116	a0084c0054 a0116c0055 a0084c0054 a0116c0055	a0084c0054t0003 a0116c0055t0003 a0084c0054t0003 a0116c0055t0003	a0084c0054t0003g0149 a0116c0055t0003g0148 a0084c0054t0003g0149 a0116c0055t0003g0148	2	354	0.0056	c.582 others(4): Show c.5824G>A	p.Val others(7): Show p.Val1942Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5961/18335	5824/17388	1942/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949632	G G	A A	missense_variant missense_variant	MODERATE	NA18945.hp1 NA18956.hp1 NA18963.hp1 others(2): Show NA18945.hp1 NA18956.hp1 NA18963.hp1 NA19076.hp2 NA19091.hp1	a0001 a0103 a0001 a0103	a0001c0002 a0103c0059 a0001c0002 a0103c0059	a0001c0002t0001 a0103c0059t0001 a0001c0002t0001 a0103c0059t0001	a0001c0002t0001g0001 a0001c0002t0001g0161 a0001c0002t0001g0230 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0161 a0001c0002t0001g0230 a0103c0059t0001g0199	5	354	0.0141	c.581 others(4): Show c.5819C>T	p.Ala others(7): Show p.Ala1940Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5956/18335	5819/17388	1940/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949654	G G	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.579 others(4): Show c.5797C>G	p.Leu others(7): Show p.Leu1933Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5934/18335	5797/17388	1933/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949655	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.579 others(4): Show c.5796G>C	p.Lys others(7): Show p.Lys1932Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5933/18335	5796/17388	1932/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949660	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0034 a0046 a0075 others(1): Show a0034 a0046 a0075 a0096	a0034c0031 a0046c0102 a0075c0063 others(1): Show a0034c0031 a0046c0102 a0075c0063 a0096c0121	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(1): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0096c0121t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(2): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0096c0121t0002g0171	5	354	0.0141	c.579 others(4): Show c.5791G>C	p.Ala others(7): Show p.Ala1931Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5928/18335	5791/17388	1931/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949674	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0034 a0046 a0075 others(1): Show a0034 a0046 a0075 a0096	a0034c0031 a0046c0102 a0075c0063 others(1): Show a0034c0031 a0046c0102 a0075c0063 a0096c0121	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(1): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0096c0121t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(2): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0096c0121t0002g0171	5	354	0.0141	c.577 others(4): Show c.5777C>T	p.Thr others(7): Show p.Thr1926Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5914/18335	5777/17388	1926/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949692	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.575 others(4): Show c.5759A>C	p.Asp others(7): Show p.Asp1920Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5896/18335	5759/17388	1920/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949699	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.575 others(4): Show c.5752A>G	p.Lys others(7): Show p.Lys1918Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5889/18335	5752/17388	1918/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949709	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.574 others(4): Show c.5742C>G	p.Phe others(7): Show p.Phe1914Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5879/18335	5742/17388	1914/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949721	A A	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0034 a0046 a0075 others(1): Show a0034 a0046 a0075 a0096	a0034c0031 a0046c0102 a0075c0063 others(1): Show a0034c0031 a0046c0102 a0075c0063 a0096c0121	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(1): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0096c0121t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(2): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0096c0121t0002g0171	5	354	0.0141	c.573 others(4): Show c.5730T>G	p.Asp others(7): Show p.Asp1910Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5867/18335	5730/17388	1910/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949723	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(2): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1	a0034 a0046 a0075 others(1): Show a0034 a0046 a0075 a0096	a0034c0031 a0046c0102 a0075c0063 others(1): Show a0034c0031 a0046c0102 a0075c0063 a0096c0121	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(1): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0096c0121t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(2): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0096c0121t0002g0171	5	354	0.0141	c.572 others(4): Show c.5728G>C	p.Asp others(7): Show p.Asp1910His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5865/18335	5728/17388	1910/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949726	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.572 others(4): Show c.5725G>C	p.Val others(7): Show p.Val1909Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5862/18335	5725/17388	1909/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949733	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.571 others(4): Show c.5718G>C	p.Leu others(7): Show p.Leu1906Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5855/18335	5718/17388	1906/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949747	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.570 others(4): Show c.5704C>T	p.Leu others(7): Show p.Leu1902Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5841/18335	5704/17388	1902/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949750	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(52): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG01175.hp2 HG01884.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02738.hp2 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 NA18522.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1	a0003 a0005 a0006 others(20): Show a0003 a0005 a0006 a0012 a0016 a0017 a0022 a0027 a0028 a0040 a0048 a0054 a0066 a0071 a0081 a0090 a0091 a0094 a0100 a0104 a0105 a0106 a0109	a0003c0004 a0003c0119 a0005c0017 others(24): Show a0003c0004 a0003c0119 a0005c0017 a0006c0007 a0012c0033 a0012c0108 a0012c0109 a0016c0113 a0017c0013 a0022c0020 a0027c0034 a0028c0118 a0028c0120 a0040c0123 a0048c0112 a0054c0097 a0066c0107 a0071c0148 a0081c0124 a0090c0098 a0091c0126 a0094c0139 a0100c0093 a0104c0149 a0105c0115 a0106c0114 a0109c0117	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(25): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0005c0017t0002 a0006c0007t0002 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0016c0113t0002 a0017c0013t0002 a0022c0020t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0040c0123t0005 a0048c0112t0002 a0054c0097t0002 a0066c0107t0002 a0071c0148t0002 a0081c0124t0002 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0109c0117t0005	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(39): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0005c0017t0002g0012 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0022c0020t0002g0015 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0040c0123t0005g0182 a0048c0112t0002g0151 a0054c0097t0002g0247 a0066c0107t0002g0174 a0071c0148t0002g0083 a0081c0124t0002g0246 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0109c0117t0005g0167	55	354	0.1554	c.570 others(4): Show c.5701G>A	p.Gly others(7): Show p.Gly1901Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5838/18335	5701/17388	1901/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949762	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0078 a0096 a0114 a0078 a0096 a0114	a0078c0095 a0096c0121 a0114c0101 a0078c0095 a0096c0121 a0114c0101	a0078c0095t0001 a0096c0121t0002 a0114c0101t0003 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	3	354	0.0085	c.568 others(4): Show c.5689C>T	p.Pro others(7): Show p.Pro1897Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5826/18335	5689/17388	1897/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949765	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.568 others(4): Show c.5686G>C	p.Val others(7): Show p.Val1896Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5823/18335	5686/17388	1896/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949766	C C	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0078 a0096 a0114 a0078 a0096 a0114	a0078c0095 a0096c0121 a0114c0101 a0078c0095 a0096c0121 a0114c0101	a0078c0095t0001 a0096c0121t0002 a0114c0101t0003 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	3	350	0.0086	c.568 others(4): Show c.5685G>T	p.Gln others(7): Show p.Gln1895His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5822/18335	5685/17388	1895/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949766	C C	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0075 a0034 a0046 a0075	a0034c0031 a0046c0102 a0075c0063 a0034c0031 a0046c0102 a0075c0063	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111	4	351	0.0114	c.568 others(4): Show c.5685G>C	p.Gln others(7): Show p.Gln1895His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5822/18335	5685/17388	1895/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949767	T T	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02717.hp2 HG03195.hp2 others(3): Show HG01167.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0034 a0046 a0078 others(2): Show a0034 a0046 a0078 a0096 a0114	a0034c0031 a0046c0102 a0078c0095 others(2): Show a0034c0031 a0046c0102 a0078c0095 a0096c0121 a0114c0101	a0034c0031t0002 a0046c0102t0002 a0078c0095t0001 others(2): Show a0034c0031t0002 a0046c0102t0002 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(3): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	6	354	0.0169	c.568 others(4): Show c.5684A>C	p.Gln others(7): Show p.Gln1895Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5821/18335	5684/17388	1895/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949785	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0034 a0034	a0034c0031 a0034c0031	a0034c0031t0002 a0034c0031t0002	a0034c0031t0002g0188 a0034c0031t0002g0188	1	354	0.0028	c.566 others(4): Show c.5666T>C	p.Met others(7): Show p.Met1889Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5803/18335	5666/17388	1889/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949786	T T	C C	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0034 a0046 a0075 others(3): Show a0034 a0046 a0075 a0078 a0096 a0114	a0034c0031 a0046c0102 a0075c0063 others(3): Show a0034c0031 a0046c0102 a0075c0063 a0078c0095 a0096c0121 a0114c0101	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(3): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(4): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	7	354	0.0198	c.566 others(4): Show c.5665A>G	p.Met others(7): Show p.Met1889Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5802/18335	5665/17388	1889/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949789	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.566 others(4): Show c.5662G>A	p.Asp others(7): Show p.Asp1888Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5799/18335	5662/17388	1888/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949809	A A	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(5): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03209.hp1 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0034 a0046 a0075 others(4): Show a0034 a0046 a0075 a0078 a0088 a0096 a0114	a0034c0031 a0046c0102 a0075c0063 others(4): Show a0034c0031 a0046c0102 a0075c0063 a0078c0095 a0088c0104 a0096c0121 a0114c0101	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(4): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0078c0095t0001 a0088c0104t0002 a0096c0121t0002 a0114c0101t0003	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(5): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0078c0095t0001g0254 a0088c0104t0002g0215 a0096c0121t0002g0171 a0114c0101t0003g0251	8	354	0.0226	c.564 others(4): Show c.5642T>A	p.Val others(7): Show p.Val1881Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5779/18335	5642/17388	1881/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949814	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.563 others(4): Show c.5637C>A	p.Asp others(7): Show p.Asp1879Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5774/18335	5637/17388	1879/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949816	C C	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.563 others(4): Show c.5635G>C	p.Asp others(7): Show p.Asp1879His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5772/18335	5635/17388	1879/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949827	A A	G G	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0034 a0046 a0075 others(3): Show a0034 a0046 a0075 a0078 a0096 a0114	a0034c0031 a0046c0102 a0075c0063 others(3): Show a0034c0031 a0046c0102 a0075c0063 a0078c0095 a0096c0121 a0114c0101	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(3): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(4): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	7	354	0.0198	c.562 others(4): Show c.5624T>C	p.Leu others(7): Show p.Leu1875Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5761/18335	5624/17388	1875/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949828	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG03195.hp2 NA20129.hp1 HG01167.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0034 a0046	a0034c0031 a0046c0102 a0034c0031 a0046c0102	a0034c0031t0002 a0046c0102t0002 a0034c0031t0002 a0046c0102t0002	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170	3	354	0.0085	c.562 others(4): Show c.5623C>T	p.Leu others(7): Show p.Leu1875Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5760/18335	5623/17388	1875/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949830	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG02717.hp2 others(4): Show HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 NA20129.hp1 NA20129.hp2	a0034 a0046 a0075 others(3): Show a0034 a0046 a0075 a0078 a0096 a0114	a0034c0031 a0046c0102 a0075c0063 others(3): Show a0034c0031 a0046c0102 a0075c0063 a0078c0095 a0096c0121 a0114c0101	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 others(3): Show a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(4): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	7	354	0.0198	c.562 others(4): Show c.5621C>A	p.Pro others(7): Show p.Pro1874Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5758/18335	5621/17388	1874/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949837	A A	T T	missense_variant missense_variant	MODERATE	HG00673.hp2 HG01167.hp2 HG02630.hp2 others(6): Show HG00673.hp2 HG01167.hp2 HG02630.hp2 HG02717.hp2 HG03195.hp2 HG03942.hp1 HG03942.hp2 NA20129.hp1 NA20129.hp2	a0001 a0034 a0046 others(5): Show a0001 a0034 a0046 a0075 a0078 a0096 a0097 a0114	a0001c0002 a0034c0031 a0046c0102 others(5): Show a0001c0002 a0034c0031 a0046c0102 a0075c0063 a0078c0095 a0096c0121 a0097c0122 a0114c0101	a0001c0002t0001 a0034c0031t0002 a0046c0102t0002 others(5): Show a0001c0002t0001 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0078c0095t0001 a0096c0121t0002 a0097c0122t0002 a0114c0101t0003	a0001c0002t0001g0001 a0034c0031t0002g0169 a0034c0031t0002g0188 others(6): Show a0001c0002t0001g0001 a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111 a0078c0095t0001g0254 a0096c0121t0002g0171 a0097c0122t0002g0180 a0114c0101t0003g0251	9	354	0.0254	c.561 others(4): Show c.5614T>A	p.Cys others(7): Show p.Cys1872Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5751/18335	5614/17388	1872/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949840	G G	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.561 others(4): Show c.5611C>A	p.Leu others(7): Show p.Leu1871Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5748/18335	5611/17388	1871/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949849	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp2 HG03942.hp1 NA20129.hp2 HG02717.hp2 HG03942.hp1 NA20129.hp2	a0078 a0096 a0114 a0078 a0096 a0114	a0078c0095 a0096c0121 a0114c0101 a0078c0095 a0096c0121 a0114c0101	a0078c0095t0001 a0096c0121t0002 a0114c0101t0003 a0078c0095t0001 a0096c0121t0002 a0114c0101t0003	a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251 a0078c0095t0001g0254 a0096c0121t0002g0171 a0114c0101t0003g0251	3	350	0.0086	c.560 others(4): Show c.5602A>G	p.Thr others(7): Show p.Thr1868Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5739/18335	5602/17388	1868/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949873	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0206 a0002c0003t0002g0206	1	354	0.0028	c.557 others(4): Show c.5578C>T	p.Pro others(7): Show p.Pro1860Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5715/18335	5578/17388	1860/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949882	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0075 a0075	a0075c0063 a0075c0063	a0075c0063t0001 a0075c0063t0001	a0075c0063t0001g0111 a0075c0063t0001g0111	1	354	0.0028	c.556 others(4): Show c.5569G>A	p.Val others(7): Show p.Val1857Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5706/18335	5569/17388	1857/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949883	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(236): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(82): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0023 a0025 a0026 a0027 a0028 a0029 a0031 a0034 a0035 a0036 a0039 a0040 a0041 a0042 a0044 a0045 a0046 a0047 a0049 a0050 a0051 a0054 a0056 a0060 a0062 a0063 a0066 a0067 a0068 a0070 a0071 a0072 a0073 a0074 a0076 a0077 a0079 a0081 a0082 a0083 a0085 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0103 a0104 a0105 a0106 a0108 a0109 a0111 a0112 a0116	a0001c0001 a0001c0002 a0001c0040 others(102): Show a0001c0001 a0001c0002 a0001c0040 a0001c0057 a0001c0064 a0001c0077 a0002c0003 a0002c0005 a0002c0036 a0002c0039 a0002c0147 a0003c0004 a0003c0119 a0004c0006 a0005c0017 a0006c0007 a0007c0008 a0009c0009 a0010c0012 a0011c0018 a0011c0089 a0012c0033 a0012c0108 a0012c0109 a0013c0060 a0014c0041 a0014c0081 a0015c0014 a0016c0113 a0017c0013 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0020c0032 a0020c0110 a0022c0020 a0023c0016 a0025c0030 a0026c0128 a0026c0129 a0027c0034 a0028c0118 a0028c0120 a0029c0024 a0031c0137 a0031c0138 a0034c0031 a0035c0035 a0036c0029 a0039c0076 a0040c0123 a0041c0053 a0042c0143 a0044c0131 a0045c0140 a0046c0102 a0047c0094 a0049c0135 a0050c0106 a0051c0074 a0054c0097 a0056c0051 a0060c0142 a0062c0125 a0063c0111 a0066c0107 a0067c0130 a0068c0127 a0070c0045 a0071c0148 a0072c0044 a0073c0092 a0074c0103 a0076c0046 a0077c0105 a0079c0043 a0081c0124 a0082c0047 a0083c0073 a0085c0084 a0087c0087 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0092c0066 a0093c0072 a0094c0139 a0095c0056 a0096c0121 a0097c0122 a0098c0100 a0099c0145 a0100c0093 a0101c0141 a0103c0059 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117 a0111c0052 a0112c0132 a0116c0055	a0001c0001t0001 a0001c0002t0001 a0001c0040t0001 others(106): Show a0001c0001t0001 a0001c0002t0001 a0001c0040t0001 a0001c0057t0001 a0001c0064t0001 a0001c0077t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0039t0002 a0002c0147t0002 a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0005c0017t0002 a0006c0007t0002 a0007c0008t0001 a0007c0008t0014 a0009c0009t0002 a0010c0012t0006 a0011c0018t0001 a0011c0089t0001 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0013c0060t0001 a0014c0041t0003 a0014c0081t0003 a0015c0014t0003 a0016c0113t0002 a0017c0013t0002 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0023c0016t0001 a0025c0030t0002 a0026c0128t0002 a0026c0129t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0029c0024t0001 a0031c0137t0007 a0031c0138t0002 a0034c0031t0002 a0035c0035t0002 a0035c0035t0007 a0036c0029t0001 a0039c0076t0001 a0040c0123t0005 a0041c0053t0002 a0042c0143t0002 a0044c0131t0002 a0045c0140t0002 a0046c0102t0002 a0047c0094t0013 a0049c0135t0002 a0050c0106t0002 a0051c0074t0001 a0054c0097t0002 a0056c0051t0001 a0060c0142t0002 a0062c0125t0002 a0063c0111t0002 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0070c0045t0003 a0071c0148t0002 a0072c0044t0003 a0073c0092t0001 a0074c0103t0002 a0076c0046t0003 a0077c0105t0002 a0079c0043t0001 a0081c0124t0002 a0082c0047t0001 a0083c0073t0001 a0085c0084t0002 a0087c0087t0001 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0092c0066t0001 a0093c0072t0012 a0094c0139t0002 a0095c0056t0001 a0096c0121t0002 a0097c0122t0002 a0098c0100t0001 a0099c0145t0003 a0100c0093t0010 a0101c0141t0002 a0103c0059t0001 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005 a0111c0052t0002 a0112c0132t0015 a0116c0055t0003	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 others(173): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0231 a0001c0002t0001g0001 a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0230 a0001c0040t0001g0029 a0001c0057t0001g0124 a0001c0064t0001g0191 a0001c0077t0001g0143 a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0039t0002g0018 a0002c0147t0002g0226 a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0005c0017t0002g0012 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0007c0008t0001g0010 a0007c0008t0001g0193 a0007c0008t0014g0192 a0009c0009t0002g0005 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0011c0018t0001g0084 a0011c0018t0001g0088 a0011c0018t0001g0102 a0011c0089t0001g0160 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0013c0060t0001g0118 a0014c0041t0003g0030 a0014c0081t0003g0116 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0023c0016t0001g0024 a0023c0016t0001g0093 a0025c0030t0002g0026 a0026c0128t0002g0204 a0026c0129t0002g0205 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0029c0024t0001g0087 a0029c0024t0001g0248 a0031c0137t0007g0221 a0031c0138t0002g0222 a0034c0031t0002g0169 a0034c0031t0002g0188 a0035c0035t0002g0075 a0035c0035t0007g0220 a0036c0029t0001g0043 a0039c0076t0001g0089 a0040c0123t0005g0182 a0041c0053t0002g0147 a0042c0143t0002g0076 a0044c0131t0002g0070 a0045c0140t0002g0253 a0046c0102t0002g0170 a0047c0094t0013g0123 a0049c0135t0002g0073 a0050c0106t0002g0250 a0051c0074t0001g0190 a0054c0097t0002g0247 a0056c0051t0001g0097 a0060c0142t0002g0225 a0062c0125t0002g0078 a0063c0111t0002g0137 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0070c0045t0003g0130 a0071c0148t0002g0083 a0072c0044t0003g0109 a0073c0092t0001g0105 a0074c0103t0002g0080 a0076c0046t0003g0110 a0077c0105t0002g0133 a0079c0043t0001g0074 a0081c0124t0002g0246 a0082c0047t0001g0077 a0083c0073t0001g0094 a0085c0084t0002g0100 a0087c0087t0001g0103 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0092c0066t0001g0108 a0093c0072t0012g0134 a0094c0139t0002g0207 a0095c0056t0001g0172 a0096c0121t0002g0171 a0097c0122t0002g0180 a0098c0100t0001g0217 a0099c0145t0003g0139 a0100c0093t0010g0055 a0101c0141t0002g0219 a0103c0059t0001g0199 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167 a0111c0052t0002g0146 a0112c0132t0015g0258 a0116c0055t0003g0148	239	335	0.7134	c.556 others(4): Show c.5568A>T	p.Glu others(7): Show p.Glu1856Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5705/18335	5568/17388	1856/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949883	T T	G G	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02258.hp2 HG02280.hp1 others(16): Show HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp1 HG03209.hp2 HG06807.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp2	a0008 a0014 a0032 others(9): Show a0008 a0014 a0032 a0033 a0055 a0065 a0075 a0078 a0084 a0086 a0110 a0114	a0008c0010 a0014c0144 a0032c0021 others(9): Show a0008c0010 a0014c0144 a0032c0021 a0033c0025 a0055c0096 a0065c0088 a0075c0063 a0078c0095 a0084c0054 a0086c0099 a0110c0048 a0114c0101	a0008c0010t0003 a0014c0144t0003 a0032c0021t0009 others(9): Show a0008c0010t0003 a0014c0144t0003 a0032c0021t0009 a0033c0025t0001 a0055c0096t0001 a0065c0088t0001 a0075c0063t0001 a0078c0095t0001 a0084c0054t0003 a0086c0099t0001 a0110c0048t0002 a0114c0101t0003	a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 others(13): Show a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0014c0144t0003g0128 a0032c0021t0009g0058 a0032c0021t0009g0059 a0033c0025t0001g0023 a0055c0096t0001g0255 a0065c0088t0001g0096 a0075c0063t0001g0111 a0078c0095t0001g0254 a0084c0054t0003g0149 a0086c0099t0001g0216 a0110c0048t0002g0256 a0114c0101t0003g0251	19	115	0.1652	c.556 others(4): Show c.5568A>C	p.Glu others(7): Show p.Glu1856Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5705/18335	5568/17388	1856/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949893	A A	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00558.hp2 HG00609.hp2 others(55): Show HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp2 HG02040.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG02922.hp1 HG03209.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19065.hp1 NA19070.hp1 NA19076.hp2 NA19077.hp1 NA19091.hp1	a0001 a0003 a0006 others(14): Show a0001 a0003 a0006 a0008 a0011 a0014 a0017 a0022 a0028 a0033 a0036 a0065 a0095 a0103 a0105 a0106 a0108	a0001c0001 a0001c0002 a0003c0004 others(16): Show a0001c0001 a0001c0002 a0003c0004 a0003c0119 a0006c0007 a0008c0010 a0011c0089 a0014c0144 a0017c0013 a0022c0020 a0028c0120 a0033c0025 a0036c0029 a0065c0088 a0095c0056 a0103c0059 a0105c0115 a0106c0114 a0108c0116	a0001c0001t0001 a0001c0002t0001 a0003c0004t0002 others(16): Show a0001c0001t0001 a0001c0002t0001 a0003c0004t0002 a0003c0119t0002 a0006c0007t0002 a0008c0010t0003 a0011c0089t0001 a0014c0144t0003 a0017c0013t0002 a0022c0020t0002 a0028c0120t0002 a0033c0025t0001 a0036c0029t0001 a0065c0088t0001 a0095c0056t0001 a0103c0059t0001 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001	a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0002t0001g0122 others(32): Show a0001c0001t0001g0003 a0001c0002t0001g0001 a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0230 a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0164 a0003c0119t0002g0178 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0011c0089t0001g0160 a0014c0144t0003g0128 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0022c0020t0002g0015 a0028c0120t0002g0179 a0033c0025t0001g0023 a0036c0029t0001g0043 a0065c0088t0001g0096 a0095c0056t0001g0172 a0103c0059t0001g0199 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152	58	354	0.1638	c.555 others(4): Show c.5558T>C	p.Val others(7): Show p.Val1853Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5695/18335	5558/17388	1853/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949899	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG03130.hp1 HG02630.hp2 HG03130.hp1	a0075 a0086 a0075 a0086	a0075c0063 a0086c0099 a0075c0063 a0086c0099	a0075c0063t0001 a0086c0099t0001 a0075c0063t0001 a0086c0099t0001	a0075c0063t0001g0111 a0086c0099t0001g0216 a0075c0063t0001g0111 a0086c0099t0001g0216	2	354	0.0056	c.555 others(4): Show c.5552C>T	p.Pro others(7): Show p.Pro1851Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5689/18335	5552/17388	1851/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949900	G G	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.555 others(4): Show c.5551C>T	p.Pro others(7): Show p.Pro1851Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5688/18335	5551/17388	1851/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949902	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG02630.hp2 HG03195.hp2 others(1): Show HG01167.hp2 HG02630.hp2 HG03195.hp2 NA20129.hp1	a0034 a0046 a0075 a0034 a0046 a0075	a0034c0031 a0046c0102 a0075c0063 a0034c0031 a0046c0102 a0075c0063	a0034c0031t0002 a0046c0102t0002 a0075c0063t0001 a0034c0031t0002 a0046c0102t0002 a0075c0063t0001	a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 others(1): Show a0034c0031t0002g0169 a0034c0031t0002g0188 a0046c0102t0002g0170 a0075c0063t0001g0111	4	353	0.0113	c.554 others(4): Show c.5549C>A	p.Ala others(7): Show p.Ala1850Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5686/18335	5549/17388	1850/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949914	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.553 others(4): Show c.5537T>C	p.Val others(7): Show p.Val1846Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5674/18335	5537/17388	1846/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949917	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 NA19030.hp2 HG02630.hp2 NA19030.hp2	a0075 a0111 a0075 a0111	a0075c0063 a0111c0052 a0075c0063 a0111c0052	a0075c0063t0001 a0111c0052t0002 a0075c0063t0001 a0111c0052t0002	a0075c0063t0001g0111 a0111c0052t0002g0146 a0075c0063t0001g0111 a0111c0052t0002g0146	2	354	0.0056	c.553 others(4): Show c.5534C>T	p.Ser others(7): Show p.Ser1845Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5671/18335	5534/17388	1845/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949920	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0012 a0012	a0012c0033 a0012c0033	a0012c0033t0003 a0012c0033t0003	a0012c0033t0003g0156 a0012c0033t0003g0156	1	351	0.0028	c.553 others(4): Show c.5531C>T	p.Ala others(7): Show p.Ala1844Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5668/18335	5531/17388	1844/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949920	G G	T T	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03688.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0218 a0002c0003t0002g0038 a0002c0003t0002g0218	3	353	0.0085	c.553 others(4): Show c.5531C>A	p.Ala others(7): Show p.Ala1844Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	5668/18335	5531/17388	1844/5795	chr14	TogoVar

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