Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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	104952766	G G	A A	synonymous_variant synonymous_variant	LOW	HG02486.hp2 HG02723.hp2 HG02486.hp2 HG02723.hp2	a0068 a0079 a0068 a0079	a0068c0127 a0079c0043 a0068c0127 a0079c0043	a0068c0127t0002 a0079c0043t0001 a0068c0127t0002 a0079c0043t0001	a0068c0127t0002g0145 a0079c0043t0001g0074 a0068c0127t0002g0145 a0079c0043t0001g0074	2	354	0.0056	c.268 others(4): Show c.2685C>T	p.Gly others(6): Show p.Gly895Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2822/18335	2685/17388	895/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953023	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 NA19030.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp1	a0032 a0110 a0032 a0110	a0032c0021 a0110c0048 a0032c0021 a0110c0048	a0032c0021t0009 a0110c0048t0002 a0032c0021t0009 a0110c0048t0002	a0032c0021t0009g0058 a0032c0021t0009g0059 a0110c0048t0002g0256 a0032c0021t0009g0058 a0032c0021t0009g0059 a0110c0048t0002g0256	3	354	0.0085	c.242 others(4): Show c.2428C>T	p.Leu others(6): Show p.Leu810Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2565/18335	2428/17388	810/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953033	C C	T T	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG02717.hp2 HG01884.hp2 HG02717.hp2	a0055 a0078 a0055 a0078	a0055c0096 a0078c0095 a0055c0096 a0078c0095	a0055c0096t0001 a0078c0095t0001 a0055c0096t0001 a0078c0095t0001	a0055c0096t0001g0255 a0078c0095t0001g0254 a0055c0096t0001g0255 a0078c0095t0001g0254	2	354	0.0056	c.241 others(4): Show c.2418G>A	p.Pro others(6): Show p.Pro806Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2555/18335	2418/17388	806/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953222	A A	G G	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(90): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.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 NA18984.hp2 NA18986.hp1 NA18995.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 NA20129.hp2	a0003 a0004 a0006 others(40): Show a0003 a0004 a0006 a0010 a0012 a0016 a0017 a0020 a0022 a0027 a0028 a0032 a0034 a0040 a0041 a0046 a0047 a0048 a0050 a0054 a0055 a0063 a0066 a0071 a0074 a0077 a0078 a0086 a0088 a0090 a0091 a0096 a0097 a0098 a0100 a0104 a0105 a0106 a0108 a0109 a0110 a0111 a0114	a0003c0004 a0003c0119 a0004c0006 others(46): Show a0003c0004 a0003c0119 a0004c0006 a0006c0007 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0016c0019 a0016c0113 a0017c0013 a0020c0032 a0020c0110 a0022c0020 a0027c0034 a0028c0118 a0028c0120 a0032c0021 a0034c0031 a0040c0123 a0041c0053 a0046c0102 a0047c0094 a0048c0112 a0050c0106 a0054c0097 a0055c0096 a0063c0111 a0066c0107 a0071c0148 a0074c0103 a0077c0105 a0078c0095 a0086c0099 a0088c0104 a0090c0098 a0091c0126 a0096c0121 a0097c0122 a0098c0100 a0100c0093 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0114c0101	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(47): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0006c0007t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0016c0019t0005 a0016c0113t0002 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0032c0021t0009 a0034c0031t0002 a0040c0123t0005 a0041c0053t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0050c0106t0002 a0054c0097t0002 a0055c0096t0001 a0063c0111t0002 a0066c0107t0002 a0071c0148t0002 a0074c0103t0002 a0077c0105t0002 a0078c0095t0001 a0086c0099t0001 a0088c0104t0002 a0090c0098t0002 a0091c0126t0002 a0096c0121t0002 a0097c0122t0002 a0098c0100t0001 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0114c0101t0003	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 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0016c0019t0005g0014 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0041c0053t0002g0147 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0050c0106t0002g0250 a0054c0097t0002g0247 a0055c0096t0001g0255 a0063c0111t0002g0137 a0066c0107t0002g0174 a0071c0148t0002g0083 a0074c0103t0002g0080 a0077c0105t0002g0133 a0078c0095t0001g0254 a0086c0099t0001g0216 a0088c0104t0002g0215 a0090c0098t0002g0203 a0091c0126t0002g0196 a0096c0121t0002g0171 a0097c0122t0002g0180 a0098c0100t0001g0217 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0114c0101t0003g0251	93	354	0.2627	c.222 others(4): Show c.2229T>C	p.Leu others(6): Show p.Leu743Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2366/18335	2229/17388	743/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953231	A A	G G	synonymous_variant synonymous_variant	LOW	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(90): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02451.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18522.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 NA18984.hp2 NA18986.hp1 NA18995.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 NA20129.hp2	a0003 a0004 a0006 others(40): Show a0003 a0004 a0006 a0010 a0012 a0016 a0017 a0020 a0022 a0027 a0028 a0032 a0034 a0040 a0041 a0046 a0047 a0048 a0050 a0054 a0055 a0063 a0066 a0071 a0074 a0077 a0078 a0086 a0088 a0090 a0091 a0096 a0097 a0098 a0100 a0104 a0105 a0106 a0108 a0109 a0110 a0111 a0114	a0003c0004 a0003c0119 a0004c0006 others(46): Show a0003c0004 a0003c0119 a0004c0006 a0006c0007 a0010c0012 a0012c0033 a0012c0108 a0012c0109 a0016c0019 a0016c0113 a0017c0013 a0020c0032 a0020c0110 a0022c0020 a0027c0034 a0028c0118 a0028c0120 a0032c0021 a0034c0031 a0040c0123 a0041c0053 a0046c0102 a0047c0094 a0048c0112 a0050c0106 a0054c0097 a0055c0096 a0063c0111 a0066c0107 a0071c0148 a0074c0103 a0077c0105 a0078c0095 a0086c0099 a0088c0104 a0090c0098 a0091c0126 a0096c0121 a0097c0122 a0098c0100 a0100c0093 a0104c0149 a0105c0115 a0106c0114 a0108c0116 a0109c0117 a0110c0048 a0111c0052 a0114c0101	a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 others(47): Show a0003c0004t0002 a0003c0004t0005 a0003c0119t0002 a0004c0006t0004 a0006c0007t0002 a0010c0012t0006 a0012c0033t0003 a0012c0108t0003 a0012c0109t0003 a0016c0019t0005 a0016c0113t0002 a0017c0013t0002 a0020c0032t0002 a0020c0110t0002 a0022c0020t0002 a0027c0034t0002 a0028c0118t0002 a0028c0120t0002 a0032c0021t0009 a0034c0031t0002 a0040c0123t0005 a0041c0053t0002 a0046c0102t0002 a0047c0094t0013 a0048c0112t0002 a0050c0106t0002 a0054c0097t0002 a0055c0096t0001 a0063c0111t0002 a0066c0107t0002 a0071c0148t0002 a0074c0103t0002 a0077c0105t0002 a0078c0095t0001 a0086c0099t0001 a0088c0104t0002 a0090c0098t0002 a0091c0126t0002 a0096c0121t0002 a0097c0122t0002 a0098c0100t0001 a0100c0093t0010 a0104c0149t0002 a0105c0115t0002 a0106c0114t0001 a0108c0116t0001 a0109c0117t0005 a0110c0048t0002 a0111c0052t0002 a0114c0101t0003	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 a0010c0012t0006g0045 a0010c0012t0006g0046 a0010c0012t0006g0053 a0010c0012t0006g0054 a0012c0033t0003g0156 a0012c0033t0003g0162 a0012c0108t0003g0081 a0012c0109t0003g0082 a0016c0019t0005g0014 a0016c0113t0002g0175 a0017c0013t0002g0165 a0017c0013t0002g0168 a0017c0013t0002g0183 a0017c0013t0002g0194 a0020c0032t0002g0119 a0020c0032t0002g0249 a0020c0110t0002g0252 a0022c0020t0002g0015 a0027c0034t0002g0200 a0027c0034t0002g0201 a0028c0118t0002g0202 a0028c0120t0002g0179 a0032c0021t0009g0058 a0032c0021t0009g0059 a0034c0031t0002g0169 a0034c0031t0002g0188 a0040c0123t0005g0182 a0041c0053t0002g0147 a0046c0102t0002g0170 a0047c0094t0013g0123 a0048c0112t0002g0151 a0050c0106t0002g0250 a0054c0097t0002g0247 a0055c0096t0001g0255 a0063c0111t0002g0137 a0066c0107t0002g0174 a0071c0148t0002g0083 a0074c0103t0002g0080 a0077c0105t0002g0133 a0078c0095t0001g0254 a0086c0099t0001g0216 a0088c0104t0002g0215 a0090c0098t0002g0203 a0091c0126t0002g0196 a0096c0121t0002g0171 a0097c0122t0002g0180 a0098c0100t0001g0217 a0100c0093t0010g0055 a0104c0149t0002g0185 a0105c0115t0002g0177 a0106c0114t0001g0176 a0108c0116t0001g0152 a0109c0117t0005g0167 a0110c0048t0002g0256 a0111c0052t0002g0146 a0114c0101t0003g0251	93	354	0.2627	c.222 others(4): Show c.2220T>C	p.Asp others(6): Show p.Asp740Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2357/18335	2220/17388	740/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953387	T T	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp1 NA18940.hp2 HG02109.hp1 NA18940.hp2	a0002 a0062 a0002 a0062	a0002c0147 a0062c0125 a0002c0147 a0062c0125	a0002c0147t0002 a0062c0125t0002 a0002c0147t0002 a0062c0125t0002	a0002c0147t0002g0226 a0062c0125t0002g0078 a0002c0147t0002g0226 a0062c0125t0002g0078	2	354	0.0056	c.206 others(4): Show c.2064A>T	p.Ser others(6): Show p.Ser688Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2201/18335	2064/17388	688/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953390	C C	T T	synonymous_variant synonymous_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0001 a0001c0057t0001	a0001c0057t0001g0124 a0001c0057t0001g0124	1	354	0.0028	c.206 others(4): Show c.2061G>A	p.Ala others(6): Show p.Ala687Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2198/18335	2061/17388	687/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953396	G G	A A	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0032 a0032	a0032c0021 a0032c0021	a0032c0021t0009 a0032c0021t0009	a0032c0021t0009g0058 a0032c0021t0009g0059 a0032c0021t0009g0058 a0032c0021t0009g0059	2	354	0.0056	c.205 others(4): Show c.2055C>T	p.Phe others(6): Show p.Phe685Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2192/18335	2055/17388	685/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953402	T T	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0062 a0062	a0062c0125 a0062c0125	a0062c0125t0002 a0062c0125t0002	a0062c0125t0002g0078 a0062c0125t0002g0078	1	354	0.0028	c.204 others(4): Show c.2049A>G	p.Pro others(6): Show p.Pro683Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2186/18335	2049/17388	683/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953672	C C	T T	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0050 a0001c0050	a0001c0050t0001 a0001c0050t0001	a0001c0050t0001g0235 a0001c0050t0001g0235	1	354	0.0028	c.177 others(4): Show c.1779G>A	p.Ser others(6): Show p.Ser593Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1916/18335	1779/17388	593/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953834	C C	G G	synonymous_variant synonymous_variant	LOW	HG02486.hp2 HG02486.hp2	a0068 a0068	a0068c0127 a0068c0127	a0068c0127t0002 a0068c0127t0002	a0068c0127t0002g0145 a0068c0127t0002g0145	1	354	0.0028	c.161 others(4): Show c.1617G>C	p.Pro others(6): Show p.Pro539Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	1754/18335	1617/17388	539/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104954590	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(81): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 others(24): Show a0001 a0002 a0008 a0009 a0014 a0015 a0018 a0019 a0026 a0031 a0032 a0035 a0042 a0044 a0045 a0049 a0060 a0067 a0068 a0069 a0082 a0089 a0094 a0099 a0101 a0110 a0112	a0001c0040 a0002c0003 a0002c0005 others(34): Show a0001c0040 a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0008c0010 a0009c0009 a0014c0041 a0014c0144 a0015c0014 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0032c0021 a0035c0035 a0042c0143 a0044c0131 a0045c0140 a0049c0135 a0060c0142 a0067c0130 a0068c0127 a0069c0136 a0082c0047 a0089c0146 a0094c0139 a0099c0145 a0101c0141 a0110c0048 a0112c0132	a0001c0040t0001 a0002c0003t0002 a0002c0003t0007 others(36): Show a0001c0040t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0008c0010t0003 a0009c0009t0002 a0014c0041t0003 a0014c0144t0003 a0015c0014t0003 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0032c0021t0009 a0035c0035t0002 a0035c0035t0007 a0042c0143t0002 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0060c0142t0002 a0067c0130t0003 a0068c0127t0002 a0069c0136t0002 a0082c0047t0001 a0089c0146t0003 a0094c0139t0002 a0099c0145t0003 a0101c0141t0002 a0110c0048t0002 a0112c0132t0015	a0001c0040t0001g0029 a0002c0003t0002g0006 a0002c0003t0002g0038 others(58): Show a0001c0040t0001g0029 a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0009c0009t0002g0005 a0014c0041t0003g0030 a0014c0144t0003g0128 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0032c0021t0009g0058 a0032c0021t0009g0059 a0035c0035t0002g0075 a0035c0035t0007g0220 a0042c0143t0002g0076 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0060c0142t0002g0225 a0067c0130t0003g0141 a0068c0127t0002g0145 a0069c0136t0002g0257 a0082c0047t0001g0077 a0089c0146t0003g0140 a0094c0139t0002g0207 a0099c0145t0003g0139 a0101c0141t0002g0219 a0110c0048t0002g0256 a0112c0132t0015g0258	84	354	0.2373	c.861 others(3): Show c.861T>C	p.Pro others(6): Show p.Pro287Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	998/18335	861/17388	287/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104954713	T T	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(77): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02738.hp1 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18940.hp2 NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19043.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0008 others(21): Show a0001 a0002 a0008 a0009 a0014 a0015 a0018 a0019 a0026 a0031 a0035 a0042 a0044 a0045 a0049 a0060 a0067 a0068 a0069 a0089 a0094 a0099 a0101 a0112	a0001c0040 a0002c0003 a0002c0005 others(31): Show a0001c0040 a0002c0003 a0002c0005 a0002c0036 a0002c0038 a0002c0039 a0002c0147 a0008c0010 a0009c0009 a0014c0041 a0014c0144 a0015c0014 a0018c0037 a0018c0134 a0019c0042 a0019c0150 a0026c0128 a0026c0129 a0031c0137 a0031c0138 a0035c0035 a0042c0143 a0044c0131 a0045c0140 a0049c0135 a0060c0142 a0067c0130 a0068c0127 a0069c0136 a0089c0146 a0094c0139 a0099c0145 a0101c0141 a0112c0132	a0001c0040t0001 a0002c0003t0002 a0002c0003t0007 others(33): Show a0001c0040t0001 a0002c0003t0002 a0002c0003t0007 a0002c0005t0002 a0002c0036t0002 a0002c0038t0002 a0002c0039t0002 a0002c0147t0002 a0008c0010t0003 a0009c0009t0002 a0014c0041t0003 a0014c0144t0003 a0015c0014t0003 a0018c0037t0002 a0018c0134t0002 a0019c0042t0002 a0019c0150t0002 a0026c0128t0002 a0026c0129t0002 a0031c0137t0007 a0031c0138t0002 a0035c0035t0002 a0035c0035t0007 a0042c0143t0002 a0044c0131t0002 a0045c0140t0002 a0049c0135t0002 a0060c0142t0002 a0067c0130t0003 a0068c0127t0002 a0069c0136t0002 a0089c0146t0003 a0094c0139t0002 a0099c0145t0003 a0101c0141t0002 a0112c0132t0015	a0001c0040t0001g0029 a0002c0003t0002g0006 a0002c0003t0002g0038 others(54): Show a0001c0040t0001g0029 a0002c0003t0002g0006 a0002c0003t0002g0038 a0002c0003t0002g0064 a0002c0003t0002g0069 a0002c0003t0002g0206 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0229 a0002c0003t0007g0186 a0002c0003t0007g0223 a0002c0005t0002g0004 a0002c0005t0002g0017 a0002c0005t0002g0060 a0002c0005t0002g0062 a0002c0005t0002g0065 a0002c0005t0002g0067 a0002c0036t0002g0224 a0002c0036t0002g0228 a0002c0038t0002g0037 a0002c0039t0002g0018 a0002c0147t0002g0226 a0008c0010t0003g0013 a0008c0010t0003g0127 a0008c0010t0003g0131 a0008c0010t0003g0138 a0009c0009t0002g0005 a0014c0041t0003g0030 a0014c0144t0003g0128 a0015c0014t0003g0079 a0015c0014t0003g0126 a0015c0014t0003g0129 a0015c0014t0003g0132 a0018c0037t0002g0066 a0018c0037t0002g0068 a0018c0134t0002g0197 a0019c0042t0002g0019 a0019c0150t0002g0072 a0026c0128t0002g0204 a0026c0129t0002g0205 a0031c0137t0007g0221 a0031c0138t0002g0222 a0035c0035t0002g0075 a0035c0035t0007g0220 a0042c0143t0002g0076 a0044c0131t0002g0070 a0045c0140t0002g0253 a0049c0135t0002g0073 a0060c0142t0002g0225 a0067c0130t0003g0141 a0068c0127t0002g0145 a0069c0136t0002g0257 a0089c0146t0003g0140 a0094c0139t0002g0207 a0099c0145t0003g0139 a0101c0141t0002g0219 a0112c0132t0015g0258	80	354	0.2260	c.738 others(3): Show c.738A>C	p.Pro others(6): Show p.Pro246Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	875/18335	738/17388	246/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104957491	C C	T T	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0079 a0079	a0079c0043 a0079c0043	a0079c0043t0001 a0079c0043t0001	a0079c0043t0001g0074 a0079c0043t0001g0074	1	354	0.0028	c.132 others(3): Show c.132G>A	p.Ala others(5): Show p.Ala44Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	3/7	269/18335	132/17388	44/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104957662	A A	T T	synonymous_variant synonymous_variant	LOW	HG02723.hp2 HG02723.hp2	a0079 a0079	a0079c0043 a0079c0043	a0079c0043t0001 a0079c0043t0001	a0079c0043t0001g0074 a0079c0043t0001g0074	1	354	0.0028	c.66T others(2): Show c.66T>A	p.Arg others(5): Show p.Arg22Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	2/7	203/18335	66/17388	22/5795	chr14	TogoVar
AHNAK_chr11_62510902_62551806	62516996	A A	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(17): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 NA19007.hp1 NA19043.hp2	a0002 a0014 a0025 a0002 a0014 a0025	a0002c0003 a0002c0021 a0002c0051 others(5): Show a0002c0003 a0002c0021 a0002c0051 a0002c0052 a0002c0053 a0014c0049 a0014c0050 a0025c0031	a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 others(5): Show a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 a0002c0052t0001 a0002c0053t0001 a0014c0049t0004 a0014c0050t0001 a0025c0031t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(9): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0094 a0002c0021t0001g0027 a0002c0051t0001g0031 a0002c0052t0001g0052 a0002c0053t0001g0095 a0014c0049t0004g0096 a0014c0050t0001g0078 a0025c0031t0001g0091	20	184	0.1087	c.174 others(5): Show c.17421T>G	p.Ser others(7): Show p.Ser5807Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17667/18761	17421/17673	5807/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517299	T T	C C	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG03098.hp2 HG02647.hp1 HG03098.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0027 a0002c0021t0001g0027	2	184	0.0109	c.171 others(5): Show c.17118A>G	p.Lys others(7): Show p.Lys5706Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17364/18761	17118/17673	5706/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517320	C C	T T	synonymous_variant synonymous_variant	LOW	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0052 a0002c0052	a0002c0052t0001 a0002c0052t0001	a0002c0052t0001g0052 a0002c0052t0001g0052	1	184	0.0054	c.170 others(5): Show c.17097G>A	p.Glu others(7): Show p.Glu5699Glu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17343/18761	17097/17673	5699/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62517416	G G	A A	synonymous_variant synonymous_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0038 a0001c0033t0001g0038	1	184	0.0054	c.170 others(5): Show c.17001C>T	p.Thr others(7): Show p.Thr5667Thr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	17247/18761	17001/17673	5667/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62518193	C C	T T	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(16): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 NA19007.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0003 a0002c0021 a0002c0051 others(4): Show a0002c0003 a0002c0021 a0002c0051 a0002c0052 a0002c0053 a0014c0049 a0014c0050	a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 others(4): Show a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 a0002c0052t0001 a0002c0053t0001 a0014c0049t0004 a0014c0050t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(8): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0094 a0002c0021t0001g0027 a0002c0051t0001g0031 a0002c0052t0001g0052 a0002c0053t0001g0095 a0014c0049t0004g0096 a0014c0050t0001g0078	19	184	0.1033	c.162 others(5): Show c.16224G>A	p.Leu others(7): Show p.Leu5408Leu	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16470/18761	16224/17673	5408/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62518415	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG02257.hp1 HG02615.hp1 others(3): Show HG01891.hp1 HG02257.hp1 HG02615.hp1 HG02630.hp1 HG03041.hp2 HG03486.hp2	a0006 a0021 a0006 a0021	a0006c0009 a0021c0032 a0006c0009 a0021c0032	a0006c0009t0001 a0021c0032t0001 a0006c0009t0001 a0021c0032t0001	a0006c0009t0001g0004 a0021c0032t0001g0028 a0006c0009t0001g0004 a0021c0032t0001g0028	6	184	0.0326	c.160 others(5): Show c.16002C>T	p.Val others(7): Show p.Val5334Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	16248/18761	16002/17673	5334/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520206	G G	A A	synonymous_variant synonymous_variant	LOW	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0014 a0014	a0014c0049 a0014c0050 a0014c0049 a0014c0050	a0014c0049t0004 a0014c0050t0001 a0014c0049t0004 a0014c0050t0001	a0014c0049t0004g0096 a0014c0050t0001g0078 a0014c0049t0004g0096 a0014c0050t0001g0078	2	184	0.0109	c.142 others(5): Show c.14211C>T	p.Gly others(7): Show p.Gly4737Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14457/18761	14211/17673	4737/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520356	T T	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(17): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 NA19007.hp1 NA19043.hp2	a0002 a0014 a0025 a0002 a0014 a0025	a0002c0003 a0002c0021 a0002c0051 others(5): Show a0002c0003 a0002c0021 a0002c0051 a0002c0052 a0002c0053 a0014c0049 a0014c0050 a0025c0031	a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 others(5): Show a0002c0003t0001 a0002c0021t0001 a0002c0051t0001 a0002c0052t0001 a0002c0053t0001 a0014c0049t0004 a0014c0050t0001 a0025c0031t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(9): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0094 a0002c0021t0001g0027 a0002c0051t0001g0031 a0002c0052t0001g0052 a0002c0053t0001g0095 a0014c0049t0004g0096 a0014c0050t0001g0078 a0025c0031t0001g0091	20	184	0.1087	c.140 others(5): Show c.14061A>G	p.Lys others(7): Show p.Lys4687Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14307/18761	14061/17673	4687/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62520440	C C	T T	synonymous_variant synonymous_variant	LOW	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0038 a0001c0033t0001g0038	1	184	0.0054	c.139 others(5): Show c.13977G>A	p.Lys others(7): Show p.Lys4659Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	14223/18761	13977/17673	4659/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521631	A A	G G	synonymous_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0001 a0024c0037t0001	a0024c0037t0001g0089 a0024c0037t0001g0089	1	184	0.0054	c.127 others(5): Show c.12786T>C	p.Phe others(7): Show p.Phe4262Phe	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	13032/18761	12786/17673	4262/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521937	G G	A A	synonymous_variant synonymous_variant	LOW	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0014 a0014	a0014c0049 a0014c0050 a0014c0049 a0014c0050	a0014c0049t0004 a0014c0050t0001 a0014c0049t0004 a0014c0050t0001	a0014c0049t0004g0096 a0014c0050t0001g0078 a0014c0049t0004g0096 a0014c0050t0001g0078	2	184	0.0109	c.124 others(5): Show c.12480C>T	p.Gly others(7): Show p.Gly4160Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12726/18761	12480/17673	4160/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62521949	G G	A A	synonymous_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0024 a0024	a0024c0037 a0024c0037	a0024c0037t0001 a0024c0037t0001	a0024c0037t0001g0089 a0024c0037t0001g0089	1	184	0.0054	c.124 others(5): Show c.12468C>T	p.Gly others(7): Show p.Gly4156Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12714/18761	12468/17673	4156/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62522036	C C	T T	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0014c0049 a0014c0050 a0002c0051 a0014c0049 a0014c0050	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0002c0051t0001 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078	3	184	0.0163	c.123 others(5): Show c.12381G>A	p.Pro others(7): Show p.Pro4127Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12627/18761	12381/17673	4127/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62522288	G G	A A	synonymous_variant synonymous_variant	LOW	NA18952.hp1 NA18952.hp1	a0015 a0015	a0015c0045 a0015c0045	a0015c0045t0001 a0015c0045t0001	a0015c0045t0001g0041 a0015c0045t0001g0041	1	184	0.0054	c.121 others(5): Show c.12129C>T	p.Asp others(7): Show p.Asp4043Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	12375/18761	12129/17673	4043/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523158	G G	A A	synonymous_variant synonymous_variant	LOW	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0053 a0002c0053	a0002c0053t0001 a0002c0053t0001	a0002c0053t0001g0095 a0002c0053t0001g0095	1	184	0.0054	c.112 others(5): Show c.11259C>T	p.Asn others(7): Show p.Asn3753Asn	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11505/18761	11259/17673	3753/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523230	C C	T T	synonymous_variant synonymous_variant	LOW	HG02145.hp1 NA19240.hp2 HG02145.hp1 NA19240.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0022 a0012c0017t0001g0022	2	184	0.0109	c.111 others(5): Show c.11187G>A	p.Lys others(7): Show p.Lys3729Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11433/18761	11187/17673	3729/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62523404	G G	A A	synonymous_variant synonymous_variant	LOW	HG03704.hp2 HG04204.hp2 HG03704.hp2 HG04204.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0017 a0001c0019t0001g0017	2	184	0.0109	c.110 others(5): Show c.11013C>T	p.Ile others(7): Show p.Ile3671Ile	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	11259/18761	11013/17673	3671/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62524877	G G	A A	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0014c0049 a0014c0050 a0002c0051 a0014c0049 a0014c0050	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0002c0051t0001 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078	3	184	0.0163	c.954 others(4): Show c.9540C>T	p.Asp others(7): Show p.Asp3180Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9786/18761	9540/17673	3180/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62525480	G G	A A	synonymous_variant synonymous_variant	LOW	HG02895.hp2 HG03540.hp2 HG02895.hp2 HG03540.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0098 a0001c0018t0001g0099 a0001c0018t0001g0098 a0001c0018t0001g0099	2	184	0.0109	c.893 others(4): Show c.8937C>T	p.Gly others(7): Show p.Gly2979Gly	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	9183/18761	8937/17673	2979/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62526350	C C	T T	synonymous_variant synonymous_variant	LOW	HG00423.hp2 HG00438.hp2 HG00558.hp1 others(14): Show HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG01261.hp2 HG02056.hp1 HG02132.hp2 HG02155.hp2 NA18747.hp1 NA18944.hp2 NA18950.hp2 NA18959.hp1 NA18983.hp1 NA18983.hp2 NA19065.hp1 NA19068.hp1 NA19085.hp2	a0001 a0005 a0017 others(3): Show a0001 a0005 a0017 a0018 a0031 a0033	a0001c0005 a0005c0008 a0017c0043 others(3): Show a0001c0005 a0005c0008 a0017c0043 a0018c0029 a0031c0030 a0033c0026	a0001c0005t0001 a0005c0008t0001 a0017c0043t0001 others(3): Show a0001c0005t0001 a0005c0008t0001 a0017c0043t0001 a0018c0029t0001 a0031c0030t0001 a0033c0026t0001	a0001c0005t0001g0010 a0001c0005t0001g0025 a0001c0005t0001g0029 others(7): Show a0001c0005t0001g0010 a0001c0005t0001g0025 a0001c0005t0001g0029 a0005c0008t0001g0015 a0005c0008t0001g0020 a0005c0008t0001g0055 a0017c0043t0001g0073 a0018c0029t0001g0068 a0031c0030t0001g0093 a0033c0026t0001g0066	17	184	0.0924	c.806 others(4): Show c.8067G>A	p.Lys others(7): Show p.Lys2689Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	8313/18761	8067/17673	2689/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62526476	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(46): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00609.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01891.hp2 HG01952.hp2 HG02083.hp2 HG02109.hp2 HG02155.hp1 HG02257.hp2 HG02559.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG03139.hp2 HG03491.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18950.hp1 NA18952.hp1 NA18959.hp2 NA18970.hp2 NA19084.hp1 NA20129.hp1 NA21309.hp2	a0001 a0008 a0011 others(8): Show a0001 a0008 a0011 a0015 a0016 a0019 a0022 a0024 a0029 a0032 a0034	a0001c0002 a0001c0019 a0001c0027 others(11): Show a0001c0002 a0001c0019 a0001c0027 a0008c0013 a0011c0020 a0015c0044 a0015c0045 a0016c0039 a0019c0042 a0022c0046 a0024c0037 a0029c0038 a0032c0040 a0034c0024	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(13): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0019t0001 a0001c0027t0001 a0008c0013t0001 a0011c0020t0002 a0015c0044t0001 a0015c0045t0001 a0016c0039t0001 a0019c0042t0001 a0022c0046t0001 a0024c0037t0001 a0029c0038t0001 a0032c0040t0001 a0034c0024t0001	a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0024 others(26): Show a0001c0002t0001g0002 a0001c0002t0001g0016 a0001c0002t0001g0024 a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0064 a0001c0002t0001g0076 a0001c0002t0001g0084 a0001c0002t0001g0090 a0001c0002t0002g0032 a0001c0002t0002g0043 a0001c0002t0008g0072 a0001c0019t0001g0017 a0001c0027t0001g0035 a0008c0013t0001g0012 a0011c0020t0002g0018 a0015c0044t0001g0040 a0015c0045t0001g0041 a0016c0039t0001g0039 a0019c0042t0001g0060 a0022c0046t0001g0042 a0024c0037t0001g0089 a0029c0038t0001g0071 a0032c0040t0001g0062 a0034c0024t0001g0092	49	184	0.2663	c.794 others(4): Show c.7941C>T	p.Ser others(7): Show p.Ser2647Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	8187/18761	7941/17673	2647/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527040	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show HG01109.hp1 HG02976.hp2 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0002c0054 a0014c0049 others(1): Show a0002c0051 a0002c0054 a0014c0049 a0014c0050	a0002c0051t0001 a0002c0054t0005 a0014c0049t0004 others(1): Show a0002c0051t0001 a0002c0054t0005 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0002c0054t0005g0030 a0014c0049t0004g0096 others(1): Show a0002c0051t0001g0031 a0002c0054t0005g0030 a0014c0049t0004g0096 a0014c0050t0001g0078	4	184	0.0217	c.737 others(4): Show c.7377T>C	p.Asp others(7): Show p.Asp2459Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7623/18761	7377/17673	2459/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527301	A A	G G	synonymous_variant synonymous_variant	LOW	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0035 a0001c0027t0001g0035	1	184	0.0054	c.711 others(4): Show c.7116T>C	p.Pro others(7): Show p.Pro2372Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	7362/18761	7116/17673	2372/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62527799	A A	C C	synonymous_variant synonymous_variant	LOW	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0014 a0014	a0014c0049 a0014c0050 a0014c0049 a0014c0050	a0014c0049t0004 a0014c0050t0001 a0014c0049t0004 a0014c0050t0001	a0014c0049t0004g0096 a0014c0050t0001g0078 a0014c0049t0004g0096 a0014c0050t0001g0078	2	184	0.0109	c.661 others(4): Show c.6618T>G	p.Val others(7): Show p.Val2206Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6864/18761	6618/17673	2206/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528276	C C	T T	synonymous_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0014 a0014	a0014c0050 a0014c0050	a0014c0050t0001 a0014c0050t0001	a0014c0050t0001g0078 a0014c0050t0001g0078	1	184	0.0054	c.614 others(4): Show c.6141G>A	p.Lys others(7): Show p.Lys2047Lys	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6387/18761	6141/17673	2047/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62528585	C C	A A	synonymous_variant synonymous_variant	LOW	HG02922.hp2 NA19030.hp2 HG02922.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	184	0.0109	c.583 others(4): Show c.5832G>T	p.Val others(7): Show p.Val1944Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	6078/18761	5832/17673	1944/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529848	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0014c0049 a0014c0050 a0002c0051 a0014c0049 a0014c0050	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0002c0051t0001 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078	3	184	0.0163	c.456 others(4): Show c.4569T>C	p.Phe others(7): Show p.Phe1523Phe	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4815/18761	4569/17673	1523/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62529938	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0014c0049 a0014c0050 a0002c0051 a0014c0049 a0014c0050	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0002c0051t0001 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078	3	184	0.0163	c.447 others(4): Show c.4479T>C	p.Asp others(7): Show p.Asp1493Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	4725/18761	4479/17673	1493/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62531360	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0051 a0002c0051	a0002c0051t0001 a0002c0051t0001	a0002c0051t0001g0031 a0002c0051t0001g0031	1	184	0.0054	c.305 others(4): Show c.3057T>C	p.Asp others(7): Show p.Asp1019Asp	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	3303/18761	3057/17673	1019/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62532272	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG02976.hp2 HG03041.hp1 others(1): Show HG01109.hp1 HG02976.hp2 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0002c0054 a0014c0049 others(1): Show a0002c0051 a0002c0054 a0014c0049 a0014c0050	a0002c0051t0001 a0002c0054t0005 a0014c0049t0004 others(1): Show a0002c0051t0001 a0002c0054t0005 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0002c0054t0005g0030 a0014c0049t0004g0096 others(1): Show a0002c0051t0001g0031 a0002c0054t0005g0030 a0014c0049t0004g0096 a0014c0050t0001g0078	4	184	0.0217	c.214 others(4): Show c.2145T>C	p.Tyr others(6): Show p.Tyr715Tyr	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	2391/18761	2145/17673	715/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62532473	A A	C C	synonymous_variant synonymous_variant	LOW	HG00408.hp1 HG01099.hp1 HG01106.hp2 others(35): Show HG00408.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01257.hp1 HG01261.hp1 HG01884.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0002 a0014 a0002 a0014	a0002c0003 a0002c0004 a0002c0011 others(7): Show a0002c0003 a0002c0004 a0002c0011 a0002c0012 a0002c0021 a0002c0051 a0002c0052 a0002c0053 a0014c0049 a0014c0050	a0002c0003t0001 a0002c0004t0001 a0002c0004t0003 others(8): Show a0002c0003t0001 a0002c0004t0001 a0002c0004t0003 a0002c0011t0001 a0002c0012t0001 a0002c0021t0001 a0002c0051t0001 a0002c0052t0001 a0002c0053t0001 a0014c0049t0004 a0014c0050t0001	a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 others(15): Show a0002c0003t0001g0003 a0002c0003t0001g0019 a0002c0003t0001g0026 a0002c0003t0001g0049 a0002c0003t0001g0094 a0002c0004t0001g0011 a0002c0004t0001g0013 a0002c0004t0001g0034 a0002c0004t0003g0033 a0002c0004t0003g0050 a0002c0011t0001g0005 a0002c0012t0001g0007 a0002c0021t0001g0027 a0002c0051t0001g0031 a0002c0052t0001g0052 a0002c0053t0001g0095 a0014c0049t0004g0096 a0014c0050t0001g0078	38	184	0.2065	c.194 others(4): Show c.1944T>G	p.Val others(6): Show p.Val648Val	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	2190/18761	1944/17673	648/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533241	C C	T T	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG03041.hp1 NA19043.hp2 HG01109.hp1 HG03041.hp1 NA19043.hp2	a0002 a0014 a0002 a0014	a0002c0051 a0014c0049 a0014c0050 a0002c0051 a0014c0049 a0014c0050	a0002c0051t0001 a0014c0049t0004 a0014c0050t0001 a0002c0051t0001 a0014c0049t0004 a0014c0050t0001	a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078 a0002c0051t0001g0031 a0014c0049t0004g0096 a0014c0050t0001g0078	3	184	0.0163	c.117 others(4): Show c.1176G>A	p.Gln others(6): Show p.Gln392Gln	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1422/18761	1176/17673	392/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533421	A A	G G	synonymous_variant synonymous_variant	LOW	NA19084.hp1 NA19084.hp1	a0034 a0034	a0034c0024 a0034c0024	a0034c0024t0001 a0034c0024t0001	a0034c0024t0001g0092 a0034c0024t0001g0092	1	184	0.0054	c.996 others(3): Show c.996T>C	p.Ser others(6): Show p.Ser332Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1242/18761	996/17673	332/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62533496	G G	A A	synonymous_variant synonymous_variant	LOW	HG02922.hp1 HG02922.hp1	a0026 a0026	a0026c0048 a0026c0048	a0026c0048t0001 a0026c0048t0001	a0026c0048t0001g0075 a0026c0048t0001g0075	1	184	0.0054	c.921 others(3): Show c.921C>T	p.Pro others(6): Show p.Pro307Pro	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	1167/18761	921/17673	307/5890	chr11	TogoVar
AHNAK_chr11_62510902_62551806	62534012	C C	T T	synonymous_variant synonymous_variant	LOW	NA19005.hp2 NA19005.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0009 a0003c0023t0009	a0003c0023t0009g0100 a0003c0023t0009g0100	1	184	0.0054	c.405 others(3): Show c.405G>A	p.Ser others(6): Show p.Ser135Ser	AHNAK	ENSG00000124942.14	transcript	ENST00000378024.9	protein_coding	5/5	651/18761	405/17673	135/5890	chr11	TogoVar

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