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	104948909	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG02451.hp1 others(7): Show HG01167.hp1 HG01169.hp1 HG02451.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1	a0001 a0012 a0015 others(2): Show a0001 a0012 a0015 a0066 a0086	a0001c0040 a0012c0033 a0015c0014 others(2): Show a0001c0040 a0012c0033 a0015c0014 a0066c0107 a0086c0099	a0001c0040t0001 a0012c0033t0003 a0015c0014t0003 others(2): Show a0001c0040t0001 a0012c0033t0003 a0015c0014t0003 a0066c0107t0002 a0086c0099t0001	a0001c0040t0001g0029 a0012c0033t0003g0156 a0012c0033t0003g0162 others(6): Show a0001c0040t0001g0029 a0012c0033t0003g0156 a0012c0033t0003g0162 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0066c0107t0002g0174 a0086c0099t0001g0216	10	354	0.0282	c.654 others(4): Show c.6542C>T	p.Pro others(7): Show p.Pro2181Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6679/18335	6542/17388	2181/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948910	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.654 others(4): Show c.6541C>T	p.Pro others(7): Show p.Pro2181Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6678/18335	6541/17388	2181/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948912	G G	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(10): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02451.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 NA20129.hp2	a0001 a0012 a0015 others(5): Show a0001 a0012 a0015 a0055 a0066 a0078 a0082 a0114	a0001c0040 a0012c0033 a0015c0014 others(5): Show a0001c0040 a0012c0033 a0015c0014 a0055c0096 a0066c0107 a0078c0095 a0082c0047 a0114c0101	a0001c0040t0001 a0012c0033t0003 a0015c0014t0003 others(5): Show a0001c0040t0001 a0012c0033t0003 a0015c0014t0003 a0055c0096t0001 a0066c0107t0002 a0078c0095t0001 a0082c0047t0001 a0114c0101t0003	a0001c0040t0001g0029 a0012c0033t0003g0156 a0012c0033t0003g0162 others(9): Show a0001c0040t0001g0029 a0012c0033t0003g0156 a0012c0033t0003g0162 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0055c0096t0001g0255 a0066c0107t0002g0174 a0078c0095t0001g0254 a0082c0047t0001g0077 a0114c0101t0003g0251	13	354	0.0367	c.653 others(4): Show c.6539C>A	p.Pro others(7): Show p.Pro2180Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6676/18335	6539/17388	2180/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948913	G G	C C	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01169.hp1 HG01884.hp2 others(17): Show HG01167.hp1 HG01169.hp1 HG01884.hp2 HG02257.hp1 HG02451.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03942.hp1 NA18948.hp2 NA18953.hp2 NA18977.hp2 NA19081.hp2 NA20129.hp2	a0001 a0012 a0015 others(9): Show a0001 a0012 a0015 a0016 a0055 a0063 a0066 a0078 a0082 a0086 a0096 a0114	a0001c0002 a0001c0040 a0012c0033 others(10): Show a0001c0002 a0001c0040 a0012c0033 a0015c0014 a0016c0019 a0055c0096 a0063c0111 a0066c0107 a0078c0095 a0082c0047 a0086c0099 a0096c0121 a0114c0101	a0001c0002t0001 a0001c0040t0001 a0012c0033t0003 others(10): Show a0001c0002t0001 a0001c0040t0001 a0012c0033t0003 a0015c0014t0003 a0016c0019t0005 a0055c0096t0001 a0063c0111t0002 a0066c0107t0002 a0078c0095t0001 a0082c0047t0001 a0086c0099t0001 a0096c0121t0002 a0114c0101t0003	a0001c0002t0001g0001 a0001c0040t0001g0029 a0012c0033t0003g0156 others(14): Show a0001c0002t0001g0001 a0001c0040t0001g0029 a0012c0033t0003g0156 a0012c0033t0003g0162 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0016c0019t0005g0014 a0055c0096t0001g0255 a0063c0111t0002g0137 a0066c0107t0002g0174 a0078c0095t0001g0254 a0082c0047t0001g0077 a0086c0099t0001g0216 a0096c0121t0002g0171 a0114c0101t0003g0251	20	354	0.0565	c.653 others(4): Show c.6538C>G	p.Pro others(7): Show p.Pro2180Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6675/18335	6538/17388	2180/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948919	C C	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.653 others(4): Show c.6532G>C	p.Val others(7): Show p.Val2178Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6669/18335	6532/17388	2178/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948922	C C	G G	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	354	0.0028	c.652 others(4): Show c.6529G>C	p.Asp others(7): Show p.Asp2177His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6666/18335	6529/17388	2177/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948924	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.652 others(4): Show c.6527T>C	p.Val others(7): Show p.Val2176Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6664/18335	6527/17388	2176/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948925	C C	G G	missense_variant missense_variant	MODERATE	NA19030.hp1 NA19030.hp1	a0110 a0110	a0110c0048 a0110c0048	a0110c0048t0002 a0110c0048t0002	a0110c0048t0002g0256 a0110c0048t0002g0256	1	354	0.0028	c.652 others(4): Show c.6526G>C	p.Val others(7): Show p.Val2176Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6663/18335	6526/17388	2176/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948931	C C	T T	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0157	1	354	0.0028	c.652 others(4): Show c.6520G>A	p.Ala others(7): Show p.Ala2174Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6657/18335	6520/17388	2174/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948934	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0090 a0090	a0090c0098 a0090c0098	a0090c0098t0002 a0090c0098t0002	a0090c0098t0002g0203 a0090c0098t0002g0203	1	354	0.0028	c.651 others(4): Show c.6517G>A	p.Glu others(7): Show p.Glu2173Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6654/18335	6517/17388	2173/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948942	T T	C C	missense_variant missense_variant	MODERATE	HG02055.hp2 NA18522.hp2 HG02055.hp2 NA18522.hp2	a0012 a0012	a0012c0108 a0012c0109 a0012c0108 a0012c0109	a0012c0108t0003 a0012c0109t0003 a0012c0108t0003 a0012c0109t0003	a0012c0108t0003g0081 a0012c0109t0003g0082 a0012c0108t0003g0081 a0012c0109t0003g0082	2	354	0.0056	c.650 others(4): Show c.6509A>G	p.Lys others(7): Show p.Lys2170Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6646/18335	6509/17388	2170/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948954	G G	A A	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.649 others(4): Show c.6497C>T	p.Ser others(7): Show p.Ser2166Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6634/18335	6497/17388	2166/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948957	A A	G G	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0083 a0083	a0083c0073 a0083c0073	a0083c0073t0001 a0083c0073t0001	a0083c0073t0001g0094 a0083c0073t0001g0094	1	354	0.0028	c.649 others(4): Show c.6494T>C	p.Val others(7): Show p.Val2165Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6631/18335	6494/17388	2165/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948969	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.648 others(4): Show c.6482C>T	p.Pro others(7): Show p.Pro2161Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6619/18335	6482/17388	2161/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104948996	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02451.hp2 HG02809.hp2 others(2): Show HG01884.hp1 HG02451.hp2 HG02809.hp2 HG03453.hp1 HG03516.hp2	a0054 a0067 a0081 others(2): Show a0054 a0067 a0081 a0090 a0093	a0054c0097 a0067c0130 a0081c0124 others(2): Show a0054c0097 a0067c0130 a0081c0124 a0090c0098 a0093c0072	a0054c0097t0002 a0067c0130t0003 a0081c0124t0002 others(2): Show a0054c0097t0002 a0067c0130t0003 a0081c0124t0002 a0090c0098t0002 a0093c0072t0012	a0054c0097t0002g0247 a0067c0130t0003g0141 a0081c0124t0002g0246 others(2): Show a0054c0097t0002g0247 a0067c0130t0003g0141 a0081c0124t0002g0246 a0090c0098t0002g0203 a0093c0072t0012g0134	5	354	0.0141	c.645 others(4): Show c.6455A>G	p.Lys others(7): Show p.Lys2152Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6592/18335	6455/17388	2152/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949001	G G	T T	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02451.hp1 HG02717.hp2 others(2): Show HG01884.hp2 HG02451.hp1 HG02717.hp2 HG02922.hp2 NA20129.hp2	a0055 a0066 a0078 others(2): Show a0055 a0066 a0078 a0082 a0114	a0055c0096 a0066c0107 a0078c0095 others(2): Show a0055c0096 a0066c0107 a0078c0095 a0082c0047 a0114c0101	a0055c0096t0001 a0066c0107t0002 a0078c0095t0001 others(2): Show a0055c0096t0001 a0066c0107t0002 a0078c0095t0001 a0082c0047t0001 a0114c0101t0003	a0055c0096t0001g0255 a0066c0107t0002g0174 a0078c0095t0001g0254 others(2): Show a0055c0096t0001g0255 a0066c0107t0002g0174 a0078c0095t0001g0254 a0082c0047t0001g0077 a0114c0101t0003g0251	5	354	0.0141	c.645 others(4): Show c.6450C>A	p.Asp others(7): Show p.Asp2150Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6587/18335	6450/17388	2150/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949009	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0096 a0016 a0086 a0096	a0016c0019 a0086c0099 a0096c0121 a0016c0019 a0086c0099 a0096c0121	a0016c0019t0005 a0086c0099t0001 a0096c0121t0002 a0016c0019t0005 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171 a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.644 others(4): Show c.6442A>G	p.Thr others(7): Show p.Thr2148Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6579/18335	6442/17388	2148/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949015	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(177): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19058.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0007 others(63): Show a0001 a0004 a0007 a0008 a0010 a0011 a0013 a0014 a0015 a0016 a0020 a0021 a0023 a0024 a0029 a0030 a0033 a0039 a0041 a0042 a0043 a0047 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0062 a0063 a0065 a0066 a0067 a0068 a0070 a0072 a0073 a0074 a0076 a0077 a0078 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0089 a0090 a0092 a0093 a0095 a0096 a0098 a0099 a0100 a0102 a0103 a0106 a0110 a0111 a0114 a0116	a0001c0001 a0001c0002 a0001c0040 others(78): Show a0001c0001 a0001c0002 a0001c0040 a0001c0057 a0001c0064 a0001c0068 a0001c0069 a0001c0075 a0001c0077 a0001c0085 a0004c0006 a0007c0008 a0008c0010 a0010c0012 a0011c0018 a0011c0089 a0013c0015 a0013c0060 a0014c0041 a0014c0081 a0014c0144 a0015c0014 a0016c0019 a0020c0032 a0020c0110 a0021c0023 a0021c0062 a0023c0016 a0024c0027 a0029c0024 a0030c0028 a0033c0025 a0039c0076 a0041c0053 a0042c0143 a0043c0086 a0047c0094 a0050c0106 a0051c0074 a0052c0049 a0053c0071 a0054c0097 a0055c0096 a0056c0051 a0062c0125 a0063c0111 a0065c0088 a0066c0107 a0067c0130 a0068c0127 a0070c0045 a0072c0044 a0073c0092 a0074c0103 a0076c0046 a0077c0105 a0078c0095 a0080c0061 a0081c0124 a0082c0047 a0083c0073 a0084c0054 a0085c0084 a0086c0099 a0087c0087 a0089c0146 a0090c0098 a0092c0066 a0093c0072 a0095c0056 a0096c0121 a0098c0100 a0099c0145 a0100c0093 a0102c0090 a0103c0059 a0106c0114 a0110c0048 a0111c0052 a0114c0101 a0116c0055	a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 others(80): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0001 a0001c0040t0001 a0001c0057t0001 a0001c0064t0001 a0001c0068t0001 a0001c0069t0001 a0001c0075t0001 a0001c0077t0001 a0001c0085t0001 a0004c0006t0004 a0007c0008t0001 a0007c0008t0014 a0008c0010t0003 a0010c0012t0006 a0011c0018t0001 a0011c0089t0001 a0013c0015t0001 a0013c0060t0001 a0014c0041t0003 a0014c0081t0003 a0014c0144t0003 a0015c0014t0003 a0016c0019t0005 a0020c0032t0002 a0020c0110t0002 a0021c0023t0001 a0021c0062t0001 a0023c0016t0001 a0024c0027t0001 a0029c0024t0001 a0030c0028t0001 a0033c0025t0001 a0039c0076t0001 a0041c0053t0002 a0042c0143t0002 a0043c0086t0001 a0047c0094t0013 a0050c0106t0002 a0051c0074t0001 a0052c0049t0001 a0053c0071t0001 a0054c0097t0002 a0055c0096t0001 a0056c0051t0001 a0062c0125t0002 a0063c0111t0002 a0065c0088t0001 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0070c0045t0003 a0072c0044t0003 a0073c0092t0001 a0074c0103t0002 a0076c0046t0003 a0077c0105t0002 a0078c0095t0001 a0080c0061t0001 a0081c0124t0002 a0082c0047t0001 a0083c0073t0001 a0084c0054t0003 a0085c0084t0002 a0086c0099t0001 a0087c0087t0001 a0089c0146t0003 a0090c0098t0002 a0092c0066t0001 a0093c0072t0012 a0095c0056t0001 a0096c0121t0002 a0098c0100t0001 a0099c0145t0003 a0100c0093t0010 a0102c0090t0001 a0103c0059t0001 a0106c0114t0001 a0110c0048t0002 a0111c0052t0002 a0114c0101t0003 a0116c0055t0003	a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 others(130): Show a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0231 a0001c0001t0011g0142 a0001c0002t0001g0001 a0001c0002t0001g0104 a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0002t0001g0153 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0230 a0001c0040t0001g0029 a0001c0057t0001g0124 a0001c0064t0001g0191 a0001c0068t0001g0120 a0001c0069t0001g0098 a0001c0075t0001g0121 a0001c0077t0001g0143 a0001c0085t0001g0101 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0007c0008t0001g0010 a0007c0008t0001g0189 a0007c0008t0001g0193 a0007c0008t0014g0192 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0011c0018t0001g0084 a0011c0018t0001g0088 a0011c0018t0001g0102 a0011c0089t0001g0160 a0013c0015t0001g0033 a0013c0015t0001g0195 a0013c0060t0001g0118 a0014c0041t0003g0030 a0014c0081t0003g0116 a0014c0144t0003g0128 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0016c0019t0005g0014 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0021c0023t0001g0021 a0021c0062t0001g0107 a0023c0016t0001g0024 a0023c0016t0001g0093 a0024c0027t0001g0025 a0029c0024t0001g0087 a0029c0024t0001g0248 a0030c0028t0001g0027 a0033c0025t0001g0023 a0039c0076t0001g0089 a0041c0053t0002g0147 a0042c0143t0002g0076 a0043c0086t0001g0086 a0047c0094t0013g0123 a0050c0106t0002g0250 a0051c0074t0001g0190 a0052c0049t0001g0114 a0053c0071t0001g0095 a0054c0097t0002g0247 a0055c0096t0001g0255 a0056c0051t0001g0097 a0062c0125t0002g0078 a0063c0111t0002g0137 a0065c0088t0001g0096 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0070c0045t0003g0130 a0072c0044t0003g0109 a0073c0092t0001g0105 a0074c0103t0002g0080 a0076c0046t0003g0110 a0077c0105t0002g0133 a0078c0095t0001g0254 a0080c0061t0001g0106 a0081c0124t0002g0246 a0082c0047t0001g0077 a0083c0073t0001g0094 a0084c0054t0003g0149 a0085c0084t0002g0100 a0086c0099t0001g0216 a0087c0087t0001g0103 a0089c0146t0003g0140 a0090c0098t0002g0203 a0092c0066t0001g0108 a0093c0072t0012g0134 a0095c0056t0001g0172 a0096c0121t0002g0171 a0098c0100t0001g0217 a0099c0145t0003g0139 a0100c0093t0010g0055 a0102c0090t0001g0113 a0103c0059t0001g0199 a0106c0114t0001g0176 a0110c0048t0002g0256 a0111c0052t0002g0146 a0114c0101t0003g0251 a0116c0055t0003g0148	180	354	0.5085	c.643 others(4): Show c.6436C>G	p.Leu others(7): Show p.Leu2146Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6573/18335	6436/17388	2146/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949024	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0096 a0016 a0086 a0096	a0016c0019 a0086c0099 a0096c0121 a0016c0019 a0086c0099 a0096c0121	a0016c0019t0005 a0086c0099t0001 a0096c0121t0002 a0016c0019t0005 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171 a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.642 others(4): Show c.6427A>G	p.Asn others(7): Show p.Asn2143Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6564/18335	6427/17388	2143/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949033	T T	A A	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0096 a0016 a0086 a0096	a0016c0019 a0086c0099 a0096c0121 a0016c0019 a0086c0099 a0096c0121	a0016c0019t0005 a0086c0099t0001 a0096c0121t0002 a0016c0019t0005 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171 a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.641 others(4): Show c.6418A>T	p.Thr others(7): Show p.Thr2140Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6555/18335	6418/17388	2140/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949036	G G	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.641 others(4): Show c.6415C>A	p.Leu others(7): Show p.Leu2139Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6552/18335	6415/17388	2139/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949043	C C	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.640 others(4): Show c.6408G>C	p.Gln others(7): Show p.Gln2136His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6545/18335	6408/17388	2136/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949045	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0096 a0016 a0086 a0096	a0016c0019 a0086c0099 a0096c0121 a0016c0019 a0086c0099 a0096c0121	a0016c0019t0005 a0086c0099t0001 a0096c0121t0002 a0016c0019t0005 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171 a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.640 others(4): Show c.6406C>G	p.Gln others(7): Show p.Gln2136Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6543/18335	6406/17388	2136/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949049	A A	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0096 a0016 a0086 a0096	a0016c0019 a0086c0099 a0096c0121 a0016c0019 a0086c0099 a0096c0121	a0016c0019t0005 a0086c0099t0001 a0096c0121t0002 a0016c0019t0005 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171 a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.640 others(4): Show c.6402T>G	p.His others(7): Show p.His2134Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6539/18335	6402/17388	2134/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949050	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	0.0056	c.640 others(4): Show c.6401A>G	p.His others(7): Show p.His2134Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6538/18335	6401/17388	2134/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949053	G G	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	354	0.0028	c.639 others(4): Show c.6398C>T	p.Ala others(7): Show p.Ala2133Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6535/18335	6398/17388	2133/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949057	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0016 a0086	a0016c0019 a0086c0099 a0016c0019 a0086c0099	a0016c0019t0005 a0086c0099t0001 a0016c0019t0005 a0086c0099t0001	a0016c0019t0005g0014 a0086c0099t0001g0216 a0016c0019t0005g0014 a0086c0099t0001g0216	4	354	0.0113	c.639 others(4): Show c.6394A>G	p.Ser others(7): Show p.Ser2132Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6531/18335	6394/17388	2132/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949072	T T	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0096 a0016 a0086 a0096	a0016c0019 a0086c0099 a0096c0121 a0016c0019 a0086c0099 a0096c0121	a0016c0019t0005 a0086c0099t0001 a0096c0121t0002 a0016c0019t0005 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171 a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.637 others(4): Show c.6379A>G	p.Arg others(7): Show p.Arg2127Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6516/18335	6379/17388	2127/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949081	G G	C C	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	353	0.0028	c.637 others(4): Show c.6370C>G	p.Gln others(7): Show p.Gln2124Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6507/18335	6370/17388	2124/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949081	G G	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	353	0.0028	c.637 others(4): Show c.6370C>A	p.Gln others(7): Show p.Gln2124Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6507/18335	6370/17388	2124/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949084	C C	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.636 others(4): Show c.6367G>A	p.Val others(7): Show p.Val2123Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6504/18335	6367/17388	2123/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949096	T T	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG03130.hp1 HG03942.hp1 others(3): Show HG02451.hp2 HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0067 a0086 others(1): Show a0016 a0067 a0086 a0096	a0016c0019 a0067c0130 a0086c0099 others(1): Show a0016c0019 a0067c0130 a0086c0099 a0096c0121	a0016c0019t0005 a0067c0130t0003 a0086c0099t0001 others(1): Show a0016c0019t0005 a0067c0130t0003 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0067c0130t0003g0141 a0086c0099t0001g0216 others(1): Show a0016c0019t0005g0014 a0067c0130t0003g0141 a0086c0099t0001g0216 a0096c0121t0002g0171	6	354	0.0169	c.635 others(4): Show c.6355A>G	p.Met others(7): Show p.Met2119Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6492/18335	6355/17388	2119/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949111	C C	G G	missense_variant missense_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0005 a0005	a0005c0083 a0005c0083	a0005c0083t0002 a0005c0083t0002	a0005c0083t0002g0232 a0005c0083t0002g0232	1	354	0.0028	c.634 others(4): Show c.6340G>C	p.Val others(7): Show p.Val2114Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6477/18335	6340/17388	2114/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949112	C C	A A	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.633 others(4): Show c.6339G>T	p.Glu others(7): Show p.Glu2113Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6476/18335	6339/17388	2113/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949113	T T	G G	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.633 others(4): Show c.6338A>C	p.Glu others(7): Show p.Glu2113Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6475/18335	6338/17388	2113/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949118	A A	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	353	0.0085	c.633 others(4): Show c.6333T>A	p.Asp others(7): Show p.Asp2111Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6470/18335	6333/17388	2111/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949122	G G	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.632 others(4): Show c.6329C>A	p.Pro others(7): Show p.Pro2110His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6466/18335	6329/17388	2110/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949125	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 NA18948.hp2 others(2): Show HG03130.hp1 HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0096 a0016 a0086 a0096	a0016c0019 a0086c0099 a0096c0121 a0016c0019 a0086c0099 a0096c0121	a0016c0019t0005 a0086c0099t0001 a0096c0121t0002 a0016c0019t0005 a0086c0099t0001 a0096c0121t0002	a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171 a0016c0019t0005g0014 a0086c0099t0001g0216 a0096c0121t0002g0171	5	354	0.0141	c.632 others(4): Show c.6326T>C	p.Val others(7): Show p.Val2109Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6463/18335	6326/17388	2109/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949128	C C	A A	missense_variant missense_variant	MODERATE	HG03942.hp1 HG03942.hp1	a0096 a0096	a0096c0121 a0096c0121	a0096c0121t0002 a0096c0121t0002	a0096c0121t0002g0171 a0096c0121t0002g0171	1	350	0.0029	c.632 others(4): Show c.6323G>T	p.Arg others(7): Show p.Arg2108Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6460/18335	6323/17388	2108/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949128	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03130.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0086 a0016 a0086	a0016c0019 a0086c0099 a0016c0019 a0086c0099	a0016c0019t0005 a0086c0099t0001 a0016c0019t0005 a0086c0099t0001	a0016c0019t0005g0014 a0086c0099t0001g0216 a0016c0019t0005g0014 a0086c0099t0001g0216	4	353	0.0113	c.632 others(4): Show c.6323G>C	p.Arg others(7): Show p.Arg2108Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6460/18335	6323/17388	2108/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949132	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(118): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01261.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0003 a0004 a0005 others(52): Show a0003 a0004 a0005 a0006 a0008 a0010 a0012 a0014 a0016 a0017 a0020 a0022 a0025 a0027 a0028 a0033 a0034 a0040 a0041 a0042 a0046 a0047 a0048 a0050 a0054 a0059 a0062 a0063 a0064 a0066 a0067 a0068 a0071 a0074 a0077 a0081 a0084 a0085 a0086 a0088 a0089 a0090 a0091 a0094 a0096 a0099 a0100 a0104 a0105 a0108 a0109 a0110 a0111 a0115 a0116	a0003c0004 a0003c0119 a0004c0006 others(61): Show a0003c0004 a0003c0119 a0004c0006 a0005c0011 a0005c0017 a0005c0083 a0006c0007 a0008c0010 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0014c0041 a0014c0144 a0016c0019 a0016c0113 a0017c0013 a0020c0032 a0020c0110 a0022c0020 a0025c0030 a0027c0034 a0028c0118 a0028c0120 a0033c0025 a0034c0031 a0040c0123 a0041c0053 a0042c0143 a0046c0102 a0047c0094 a0048c0112 a0050c0106 a0054c0097 a0059c0078 a0062c0125 a0063c0111 a0064c0079 a0066c0107 a0067c0130 a0068c0127 a0071c0148 a0074c0103 a0077c0105 a0081c0124 a0084c0054 a0085c0084 a0086c0099 a0088c0104 a0089c0146 a0090c0098 a0091c0126 a0094c0139 a0096c0121 a0099c0145 a0100c0093 a0104c0149 a0105c0115 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0115c0080 a0116c0055	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(62): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0005c0011t0002 a0005c0017t0002 a0005c0083t0002 a0006c0007t0002 a0008c0010t0003 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0014c0041t0003 a0014c0144t0003 a0016c0019t0005 a0016c0113t0002 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0025c0030t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0033c0025t0001 a0034c0031t0002 a0040c0123t0005 a0041c0053t0002 a0042c0143t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0050c0106t0002 a0054c0097t0002 a0059c0078t0002 a0062c0125t0002 a0063c0111t0002 a0064c0079t0002 a0066c0107t0002 a0067c0130t0003 a0068c0127t0002 a0071c0148t0002 a0074c0103t0002 a0077c0105t0002 a0081c0124t0002 a0084c0054t0003 a0085c0084t0002 a0086c0099t0001 a0088c0104t0002 a0089c0146t0003 a0090c0098t0002 a0091c0126t0002 a0094c0139t0002 a0096c0121t0002 a0099c0145t0003 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0115c0080t0002 a0116c0055t0003	a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 others(92): Show a0003c0004t0002g0009 a0003c0004t0002g0032 a0003c0004t0002g0155 a0003c0004t0002g0158 a0003c0004t0002g0164 a0003c0004t0002g0184 a0003c0004t0005g0031 a0003c0004t0005g0166 a0003c0119t0002g0178 a0004c0006t0004g0011 a0004c0006t0004g0016 a0004c0006t0004g0048 a0004c0006t0004g0049 a0004c0006t0004g0050 a0004c0006t0004g0051 a0004c0006t0004g0052 a0004c0006t0004g0056 a0005c0011t0002g0007 a0005c0011t0002g0090 a0005c0017t0002g0012 a0005c0083t0002g0232 a0006c0007t0002g0008 a0006c0007t0002g0034 a0006c0007t0002g0154 a0006c0007t0002g0187 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0014c0041t0003g0030 a0014c0144t0003g0128 a0016c0019t0005g0014 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0025c0030t0002g0026 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0033c0025t0001g0023 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0041c0053t0002g0147 a0042c0143t0002g0076 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0050c0106t0002g0250 a0054c0097t0002g0247 a0059c0078t0002g0099 a0062c0125t0002g0078 a0063c0111t0002g0137 a0064c0079t0002g0085 a0066c0107t0002g0174 a0067c0130t0003g0141 a0068c0127t0002g0145 a0071c0148t0002g0083 a0074c0103t0002g0080 a0077c0105t0002g0133 a0081c0124t0002g0246 a0084c0054t0003g0149 a0085c0084t0002g0100 a0086c0099t0001g0216 a0088c0104t0002g0215 a0089c0146t0003g0140 a0090c0098t0002g0203 a0091c0126t0002g0196 a0094c0139t0002g0207 a0096c0121t0002g0171 a0099c0145t0003g0139 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0115c0080t0002g0237 a0116c0055t0003g0148	121	354	0.3418	c.631 others(4): Show c.6319A>G	p.Met others(7): Show p.Met2107Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6456/18335	6319/17388	2107/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949137	A A	G G	missense_variant missense_variant	MODERATE	HG03942.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0096 a0016 a0096	a0016c0019 a0096c0121 a0016c0019 a0096c0121	a0016c0019t0005 a0096c0121t0002 a0016c0019t0005 a0096c0121t0002	a0016c0019t0005g0014 a0096c0121t0002g0171 a0016c0019t0005g0014 a0096c0121t0002g0171	4	354	0.0113	c.631 others(4): Show c.6314T>C	p.Val others(7): Show p.Val2105Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6451/18335	6314/17388	2105/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949143	G G	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.630 others(4): Show c.6308C>A	p.Pro others(7): Show p.Pro2103His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6445/18335	6308/17388	2103/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949146	T T	C C	missense_variant missense_variant	MODERATE	HG03942.hp1 NA18948.hp2 NA18977.hp2 others(1): Show HG03942.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0096 a0016 a0096	a0016c0019 a0096c0121 a0016c0019 a0096c0121	a0016c0019t0005 a0096c0121t0002 a0016c0019t0005 a0096c0121t0002	a0016c0019t0005g0014 a0096c0121t0002g0171 a0016c0019t0005g0014 a0096c0121t0002g0171	4	354	0.0113	c.630 others(4): Show c.6305A>G	p.Asp others(7): Show p.Asp2102Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6442/18335	6305/17388	2102/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949156	C C	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	354	0.0028	c.629 others(4): Show c.6295G>T	p.Asp others(7): Show p.Asp2099Tyr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6432/18335	6295/17388	2099/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949170	T T	C C	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.628 others(4): Show c.6281A>G	p.Lys others(7): Show p.Lys2094Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6418/18335	6281/17388	2094/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949174	T T	C C	missense_variant missense_variant	MODERATE	HG03942.hp1 HG06807.hp1 NA18948.hp2 others(2): Show HG03942.hp1 HG06807.hp1 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0096 a0098 a0016 a0096 a0098	a0016c0019 a0096c0121 a0098c0100 a0016c0019 a0096c0121 a0098c0100	a0016c0019t0005 a0096c0121t0002 a0098c0100t0001 a0016c0019t0005 a0096c0121t0002 a0098c0100t0001	a0016c0019t0005g0014 a0096c0121t0002g0171 a0098c0100t0001g0217 a0016c0019t0005g0014 a0096c0121t0002g0171 a0098c0100t0001g0217	5	354	0.0141	c.627 others(4): Show c.6277A>G	p.Ile others(7): Show p.Ile2093Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6414/18335	6277/17388	2093/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949175	G G	T T	missense_variant missense_variant	MODERATE	NA18948.hp2 NA18977.hp2 NA19081.hp2 NA18948.hp2 NA18977.hp2 NA19081.hp2	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0005 a0016c0019t0005	a0016c0019t0005g0014 a0016c0019t0005g0014	3	354	0.0085	c.627 others(4): Show c.6276C>A	p.Asp others(7): Show p.Asp2092Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6413/18335	6276/17388	2092/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949180	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03942.hp1 HG03130.hp1 HG03942.hp1	a0086 a0096 a0086 a0096	a0086c0099 a0096c0121 a0086c0099 a0096c0121	a0086c0099t0001 a0096c0121t0002 a0086c0099t0001 a0096c0121t0002	a0086c0099t0001g0216 a0096c0121t0002g0171 a0086c0099t0001g0216 a0096c0121t0002g0171	2	354	0.0056	c.627 others(4): Show c.6271G>A	p.Val others(7): Show p.Val2091Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6408/18335	6271/17388	2091/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104949183	G G	C C	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0086 a0086	a0086c0099 a0086c0099	a0086c0099t0001 a0086c0099t0001	a0086c0099t0001g0216 a0086c0099t0001g0216	1	354	0.0028	c.626 others(4): Show c.6268C>G	p.Gln others(7): Show p.Gln2090Glu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	6405/18335	6268/17388	2090/5795	chr14	TogoVar

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