Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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	104951886	A A	G G	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02074.hp1 HG02451.hp1 others(5): Show HG02055.hp2 HG02074.hp1 HG02451.hp1 HG03098.hp1 HG03471.hp1 NA18522.hp2 NA19009.hp2 NA19090.hp1	a0033 a0077 a0078 others(4): Show a0033 a0077 a0078 a0079 a0082 a0083 a0202	a0033c0022 a0077c0182 a0078c0175 others(4): Show a0033c0022 a0077c0182 a0078c0175 a0079c0183 a0082c0174 a0083c0176 a0202c0068	a0033c0022t0001 a0077c0182t0003 a0078c0175t0002 others(4): Show a0033c0022t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0082c0174t0003 a0083c0176t0003 a0202c0068t0001	a0033c0022t0001g0285 a0033c0022t0001g0287 a0077c0182t0003g0170 others(5): Show a0033c0022t0001g0285 a0033c0022t0001g0287 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0082c0174t0003g0072 a0083c0176t0003g0073 a0202c0068t0001g0286	8	356	0.0225	c.356 others(4): Show c.3565T>C	p.Ser others(7): Show p.Ser1189Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3702/18335	3565/17388	1189/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951897	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.355 others(4): Show c.3554C>T	p.Ser others(7): Show p.Ser1185Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3691/18335	3554/17388	1185/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951898	A A	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.355 others(4): Show c.3553T>A	p.Ser others(7): Show p.Ser1185Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3690/18335	3553/17388	1185/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951904	C C	G G	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0122 a0122	a0122c0213 a0122c0213	a0122c0213t0015 a0122c0213t0015	a0122c0213t0015g0304 a0122c0213t0015g0304	1	356	0.0028	c.354 others(4): Show c.3547G>C	p.Glu others(7): Show p.Glu1183Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3684/18335	3547/17388	1183/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951905	G G	C C	missense_variant missense_variant	MODERATE	HG01074.hp2 HG02040.hp2 HG02738.hp2 HG01074.hp2 HG02040.hp2 HG02738.hp2	a0096 a0097 a0123 a0096 a0097 a0123	a0096c0199 a0097c0201 a0123c0233 a0096c0199 a0097c0201 a0123c0233	a0096c0199t0002 a0097c0201t0002 a0123c0233t0002 a0096c0199t0002 a0097c0201t0002 a0123c0233t0002	a0096c0199t0002g0229 a0097c0201t0002g0200 a0123c0233t0002g0299 a0096c0199t0002g0229 a0097c0201t0002g0200 a0123c0233t0002g0299	3	356	0.0084	c.354 others(4): Show c.3546C>G	p.Ile others(7): Show p.Ile1182Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3683/18335	3546/17388	1182/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951927	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(105): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA18984.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp2 NA19065.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0010 others(59): Show a0001 a0006 a0010 a0018 a0019 a0020 a0021 a0022 a0025 a0027 a0028 a0030 a0031 a0052 a0061 a0064 a0066 a0067 a0068 a0069 a0074 a0075 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0086 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0105 a0108 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0190 a0191 a0192 a0193 a0194 a0198 a0211	a0001c0001 a0001c0003 a0001c0045 others(68): Show a0001c0001 a0001c0003 a0001c0045 a0006c0006 a0006c0200 a0010c0011 a0018c0017 a0019c0016 a0020c0018 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0027c0189 a0027c0190 a0028c0019 a0030c0226 a0031c0046 a0052c0208 a0052c0209 a0061c0166 a0064c0165 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0086c0188 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0105c0211 a0108c0218 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0190c0151 a0191c0150 a0192c0137 a0193c0138 a0194c0136 a0198c0152 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(68): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0006c0006t0002 a0006c0200t0002 a0010c0011t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0030c0226t0007 a0031c0046t0002 a0052c0208t0002 a0052c0209t0002 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0086c0188t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0105c0211t0002 a0108c0218t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0190c0151t0001 a0191c0150t0001 a0192c0137t0001 a0193c0138t0001 a0194c0136t0001 a0198c0152t0001 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(84): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0052c0208t0002g0231 a0052c0209t0002g0232 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0086c0188t0002g0182 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0105c0211t0002g0061 a0108c0218t0002g0303 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0190c0151t0001g0168 a0191c0150t0001g0090 a0192c0137t0001g0078 a0193c0138t0001g0075 a0194c0136t0001g0107 a0198c0152t0001g0118 a0211c0247t0002g0206	108	356	0.3034	c.352 others(4): Show c.3524C>T	p.Ala others(7): Show p.Ala1175Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3661/18335	3524/17388	1175/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951936	G G	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0108 a0108	a0108c0218 a0108c0218	a0108c0218t0002 a0108c0218t0002	a0108c0218t0002g0303 a0108c0218t0002g0303	1	356	0.0028	c.351 others(4): Show c.3515C>T	p.Ser others(7): Show p.Ser1172Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3652/18335	3515/17388	1172/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951939	G G	A A	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02615.hp1 HG02622.hp1 others(3): Show HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02723.hp1 HG06807.hp2 NA18522.hp1	a0032 a0125 a0126 others(2): Show a0032 a0125 a0126 a0127 a0128	a0032c0050 a0125c0242 a0126c0240 others(2): Show a0032c0050 a0125c0242 a0126c0240 a0127c0241 a0128c0239	a0032c0050t0003 a0125c0242t0003 a0126c0240t0003 others(2): Show a0032c0050t0003 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003	a0032c0050t0003g0136 a0032c0050t0003g0145 a0125c0242t0003g0137 others(3): Show a0032c0050t0003g0136 a0032c0050t0003g0145 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135	6	356	0.0169	c.351 others(4): Show c.3512C>T	p.Pro others(7): Show p.Pro1171Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3649/18335	3512/17388	1171/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104951966	C C	T T	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02155.hp2 NA18747.hp2 others(2): Show HG02132.hp2 HG02155.hp2 NA18747.hp2 NA19030.hp1 NA19043.hp1	a0023 a0067 a0124 a0023 a0067 a0124	a0023c0021 a0023c0072 a0067c0058 others(1): Show a0023c0021 a0023c0072 a0067c0058 a0124c0071	a0023c0021t0001 a0023c0072t0001 a0067c0058t0002 others(1): Show a0023c0021t0001 a0023c0072t0001 a0067c0058t0002 a0124c0071t0001	a0023c0021t0001g0221 a0023c0021t0001g0222 a0023c0072t0001g0220 others(2): Show a0023c0021t0001g0221 a0023c0021t0001g0222 a0023c0072t0001g0220 a0067c0058t0002g0302 a0124c0071t0001g0123	5	356	0.0140	c.348 others(4): Show c.3485G>A	p.Arg others(7): Show p.Arg1162Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3622/18335	3485/17388	1162/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952007	T T	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(149): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.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.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(82): Show a0001 a0004 a0006 a0009 a0010 a0011 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0052 a0053 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0207 a0211	a0001c0001 a0001c0003 a0001c0045 others(97): Show a0001c0001 a0001c0003 a0001c0045 a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0011c0012 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0052c0208 a0052c0209 a0053c0246 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0064c0165 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0207c0206 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(97): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0011c0012t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0052c0208t0002 a0052c0209t0002 a0053c0246t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0064c0165t0001 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0207c0206t0002 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(121): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0011c0012t0002g0006 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0052c0208t0002g0231 a0052c0209t0002g0232 a0053c0246t0002g0074 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0064c0165t0001g0247 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0207c0206t0002g0223 a0211c0247t0002g0206	152	356	0.4270	c.344 others(4): Show c.3444A>C	p.Glu others(7): Show p.Glu1148Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3581/18335	3444/17388	1148/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952020	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.343 others(4): Show c.3431G>A	p.Arg others(7): Show p.Arg1144Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3568/18335	3431/17388	1144/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952021	G G	A A	missense_variant missense_variant	MODERATE	NA18953.hp1 NA19002.hp1 NA19004.hp2 others(4): Show NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2	a0011 a0029 a0107 a0011 a0029 a0107	a0011c0012 a0029c0047 a0107c0234 a0011c0012 a0029c0047 a0107c0234	a0011c0012t0002 a0029c0047t0002 a0107c0234t0002 a0011c0012t0002 a0029c0047t0002 a0107c0234t0002	a0011c0012t0002g0006 a0029c0047t0002g0031 a0107c0234t0002g0252 a0011c0012t0002g0006 a0029c0047t0002g0031 a0107c0234t0002g0252	7	356	0.0197	c.343 others(4): Show c.3430C>T	p.Arg others(7): Show p.Arg1144Trp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3567/18335	3430/17388	1144/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952027	T T	C C	missense_variant missense_variant	MODERATE	NA18953.hp1 NA19002.hp1 NA19004.hp2 others(4): Show NA18953.hp1 NA19002.hp1 NA19004.hp2 NA19055.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2	a0011 a0029 a0107 a0011 a0029 a0107	a0011c0012 a0029c0047 a0107c0234 a0011c0012 a0029c0047 a0107c0234	a0011c0012t0002 a0029c0047t0002 a0107c0234t0002 a0011c0012t0002 a0029c0047t0002 a0107c0234t0002	a0011c0012t0002g0006 a0029c0047t0002g0031 a0107c0234t0002g0252 a0011c0012t0002g0006 a0029c0047t0002g0031 a0107c0234t0002g0252	7	356	0.0197	c.342 others(4): Show c.3424A>G	p.Ser others(7): Show p.Ser1142Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3561/18335	3424/17388	1142/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952042	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.340 others(4): Show c.3409G>A	p.Gly others(7): Show p.Gly1137Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3546/18335	3409/17388	1137/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952044	G G	A A	missense_variant missense_variant	MODERATE	HG03492.hp2 HG03492.hp2	a0207 a0207	a0207c0206 a0207c0206	a0207c0206t0002 a0207c0206t0002	a0207c0206t0002g0223 a0207c0206t0002g0223	1	356	0.0028	c.340 others(4): Show c.3407C>T	p.Pro others(7): Show p.Pro1136Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3544/18335	3407/17388	1136/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952044	G G	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.340 others(4): Show c.3407C>G	p.Pro others(7): Show p.Pro1136Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3544/18335	3407/17388	1136/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952051	C C	G G	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.340 others(4): Show c.3400G>C	p.Glu others(7): Show p.Glu1134Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3537/18335	3400/17388	1134/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952054	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(130): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(68): Show a0001 a0004 a0006 a0009 a0010 a0011 a0016 a0017 a0019 a0021 a0022 a0025 a0026 a0027 a0029 a0030 a0031 a0052 a0053 a0056 a0057 a0058 a0059 a0060 a0062 a0063 a0067 a0070 a0071 a0072 a0073 a0076 a0077 a0078 a0079 a0082 a0083 a0084 a0087 a0088 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0207 a0211	a0001c0001 a0001c0003 a0001c0045 others(83): Show a0001c0001 a0001c0003 a0001c0045 a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0011c0012 a0016c0041 a0016c0160 a0017c0015 a0019c0016 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0027c0189 a0027c0190 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0052c0208 a0052c0209 a0053c0246 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0062c0167 a0063c0168 a0067c0058 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0082c0174 a0083c0176 a0084c0181 a0087c0187 a0088c0198 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0207c0206 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(83): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0011c0012t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0019c0016t0005 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0052c0208t0002 a0052c0209t0002 a0053c0246t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0062c0167t0002 a0063c0168t0001 a0067c0058t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0087c0187t0002 a0088c0198t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0207c0206t0002 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(106): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0011c0012t0002g0006 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0019c0016t0005g0028 a0019c0016t0005g0177 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0052c0208t0002g0231 a0052c0209t0002g0232 a0053c0246t0002g0074 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0062c0167t0002g0230 a0063c0168t0001g0248 a0067c0058t0002g0302 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0087c0187t0002g0208 a0088c0198t0002g0175 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0207c0206t0002g0223 a0211c0247t0002g0206	133	356	0.3736	c.339 others(4): Show c.3397G>A	p.Val others(7): Show p.Val1133Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3534/18335	3397/17388	1133/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952095	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.335 others(4): Show c.3356C>T	p.Ala others(7): Show p.Ala1119Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3493/18335	3356/17388	1119/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952098	G G	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.335 others(4): Show c.3353C>G	p.Thr others(7): Show p.Thr1118Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3490/18335	3353/17388	1118/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952107	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.334 others(4): Show c.3344C>T	p.Ala others(7): Show p.Ala1115Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3481/18335	3344/17388	1115/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952116	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.333 others(4): Show c.3335G>A	p.Ser others(7): Show p.Ser1112Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3472/18335	3335/17388	1112/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952117	T T	C C	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(16): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(11): Show a0018 a0020 a0028 a0061 a0064 a0066 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(11): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(11): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(12): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	19	356	0.0534	c.333 others(4): Show c.3334A>G	p.Ser others(7): Show p.Ser1112Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3471/18335	3334/17388	1112/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952144	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG01167.hp2 HG01884.hp1 others(17): Show HG00609.hp1 HG01167.hp2 HG01884.hp1 HG02056.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03942.hp1 NA18948.hp2 NA18954.hp1 NA18977.hp2 NA19012.hp2 NA19030.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2	a0018 a0020 a0028 others(12): Show a0018 a0020 a0028 a0061 a0064 a0066 a0067 a0068 a0069 a0074 a0075 a0080 a0081 a0086 a0089	a0018c0017 a0020c0018 a0028c0019 others(12): Show a0018c0017 a0020c0018 a0028c0019 a0061c0166 a0064c0165 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0074c0179 a0075c0164 a0080c0180 a0081c0173 a0086c0188 a0089c0196	a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 others(12): Show a0018c0017t0005 a0020c0018t0002 a0028c0019t0009 a0061c0166t0002 a0064c0165t0001 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0074c0179t0003 a0075c0164t0001 a0080c0180t0002 a0081c0173t0002 a0086c0188t0002 a0089c0196t0002	a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 others(13): Show a0018c0017t0005g0008 a0020c0018t0002g0009 a0028c0019t0009g0049 a0028c0019t0009g0050 a0061c0166t0002g0293 a0064c0165t0001g0247 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0074c0179t0003g0297 a0075c0164t0001g0301 a0080c0180t0002g0181 a0081c0173t0002g0180 a0086c0188t0002g0182 a0089c0196t0002g0198	20	356	0.0562	c.330 others(4): Show c.3307G>A	p.Val others(7): Show p.Val1103Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3444/18335	3307/17388	1103/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952146	T T	C C	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0195 a0195	a0195c0243 a0195c0243	a0195c0243t0003 a0195c0243t0003	a0195c0243t0003g0148 a0195c0243t0003g0148	1	356	0.0028	c.330 others(4): Show c.3305A>G	p.Asp others(7): Show p.Asp1102Gly	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3442/18335	3305/17388	1102/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952165	G G	T T	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0092 a0092	a0092c0191 a0092c0191	a0092c0191t0001 a0092c0191t0001	a0092c0191t0001g0196 a0092c0191t0001g0196	1	356	0.0028	c.328 others(4): Show c.3286C>A	p.Leu others(7): Show p.Leu1096Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3423/18335	3286/17388	1096/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952167	G G	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(89): Show HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01175.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 HG02809.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 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	a0004 a0006 a0009 others(55): Show a0004 a0006 a0009 a0010 a0016 a0017 a0018 a0019 a0020 a0026 a0027 a0028 a0053 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0207 a0211	a0004c0005 a0004c0157 a0004c0158 others(62): Show a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0053c0246 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0064c0165 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0207c0206 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(62): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0053c0246t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0064c0165t0001 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0207c0206t0002 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(77): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0053c0246t0002g0074 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0064c0165t0001g0247 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0207c0206t0002g0223 a0211c0247t0002g0206	92	356	0.2584	c.328 others(4): Show c.3284C>A	p.Ala others(7): Show p.Ala1095Asp	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3421/18335	3284/17388	1095/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952184	G G	C C	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00597.hp2 HG00609.hp1 others(43): Show HG00558.hp2 HG00597.hp2 HG00609.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02273.hp1 HG02486.hp2 HG02602.hp2 HG02738.hp2 HG03017.hp2 HG03492.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19074.hp1 NA19081.hp2	a0006 a0009 a0010 others(21): Show a0006 a0009 a0010 a0017 a0018 a0019 a0020 a0027 a0053 a0066 a0086 a0087 a0088 a0089 a0090 a0091 a0093 a0094 a0095 a0096 a0097 a0196 a0207 a0211	a0006c0006 a0006c0200 a0009c0043 others(25): Show a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0027c0189 a0027c0190 a0053c0246 a0066c0202 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0196c0207 a0207c0206 a0211c0247	a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 others(25): Show a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0027c0189t0002 a0027c0190t0002 a0053c0246t0002 a0066c0202t0005 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0196c0207t0002 a0207c0206t0002 a0211c0247t0002	a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 others(33): Show a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0027c0189t0002g0227 a0027c0190t0002g0228 a0053c0246t0002g0074 a0066c0202t0005g0203 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0196c0207t0002g0153 a0207c0206t0002g0223 a0211c0247t0002g0206	46	356	0.1292	c.326 others(4): Show c.3267C>G	p.Phe others(7): Show p.Phe1089Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3404/18335	3267/17388	1089/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952407	T T	C C	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0198 a0198	a0198c0152 a0198c0152	a0198c0152t0001 a0198c0152t0001	a0198c0152t0001g0118 a0198c0152t0001g0118	1	356	0.0028	c.304 others(4): Show c.3044A>G	p.Lys others(7): Show p.Lys1015Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3181/18335	3044/17388	1015/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952489	C C	T T	missense_variant missense_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0199 a0199	a0199c0069 a0199c0069	a0199c0069t0001 a0199c0069t0001	a0199c0069t0001g0226 a0199c0069t0001g0226	1	356	0.0028	c.296 others(4): Show c.2962G>A	p.Asp others(6): Show p.Asp988Asn	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3099/18335	2962/17388	988/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952581	C C	A A	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0028 a0028	a0028c0019 a0028c0019	a0028c0019t0009 a0028c0019t0009	a0028c0019t0009g0049 a0028c0019t0009g0050 a0028c0019t0009g0049 a0028c0019t0009g0050	2	356	0.0056	c.287 others(4): Show c.2870G>T	p.Gly others(6): Show p.Gly957Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	3007/18335	2870/17388	957/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952593	G G	A A	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00609.hp1	a0066 a0066	a0066c0202 a0066c0202	a0066c0202t0005 a0066c0202t0005	a0066c0202t0005g0203 a0066c0202t0005g0203	1	356	0.0028	c.285 others(4): Show c.2858C>T	p.Thr others(6): Show p.Thr953Ile	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2995/18335	2858/17388	953/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952674	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0204 a0204	a0204c0053 a0204c0053	a0204c0053t0001 a0204c0053t0001	a0204c0053t0001g0065 a0204c0053t0001g0065	1	356	0.0028	c.277 others(4): Show c.2777T>C	p.Met others(6): Show p.Met926Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2914/18335	2777/17388	926/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952679	G G	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0204 a0204	a0204c0053 a0204c0053	a0204c0053t0001 a0204c0053t0001	a0204c0053t0001g0065 a0204c0053t0001g0065	1	356	0.0028	c.277 others(4): Show c.2772C>A	p.Phe others(6): Show p.Phe924Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2909/18335	2772/17388	924/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952798	G G	A A	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0200 a0200	a0200c0153 a0200c0153	a0200c0153t0001 a0200c0153t0001	a0200c0153t0001g0270 a0200c0153t0001g0270	1	356	0.0028	c.265 others(4): Show c.2653C>T	p.Pro others(6): Show p.Pro885Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2790/18335	2653/17388	885/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952885	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02809.hp2 HG03130.hp1 others(2): Show HG01884.hp1 HG02809.hp2 HG03130.hp1 HG03453.hp1 HG06807.hp1	a0061 a0062 a0063 others(2): Show a0061 a0062 a0063 a0064 a0098	a0061c0166 a0062c0167 a0063c0168 others(2): Show a0061c0166 a0062c0167 a0063c0168 a0064c0165 a0098c0204	a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 others(2): Show a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0064c0165t0001 a0098c0204t0002	a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 others(2): Show a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0064c0165t0001g0247 a0098c0204t0002g0292	5	356	0.0140	c.256 others(4): Show c.2566G>A	p.Val others(6): Show p.Val856Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2703/18335	2566/17388	856/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104952897	T T	C C	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG00558.hp2 others(92): 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 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.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	a0004 a0006 a0009 others(58): Show a0004 a0006 a0009 a0010 a0016 a0017 a0018 a0019 a0020 a0026 a0027 a0028 a0053 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0201 a0207 a0211	a0004c0005 a0004c0157 a0004c0158 others(65): Show a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0053c0246 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0064c0165 a0065c0203 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0201c0154 a0207c0206 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(65): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0053c0246t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0064c0165t0001 a0065c0203t0002 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0201c0154t0001 a0207c0206t0002 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(80): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0053c0246t0002g0074 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0064c0165t0001g0247 a0065c0203t0002g0201 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0201c0154t0001g0110 a0207c0206t0002g0223 a0211c0247t0002g0206	95	356	0.2669	c.255 others(4): Show c.2554A>G	p.Met others(6): Show p.Met852Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2691/18335	2554/17388	852/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953010	C C	T T	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0105 a0105	a0105c0211 a0105c0211	a0105c0211t0002 a0105c0211t0002	a0105c0211t0002g0061 a0105c0211t0002g0061	1	356	0.0028	c.244 others(4): Show c.2441G>A	p.Arg others(6): Show p.Arg814Gln	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2578/18335	2441/17388	814/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953035	G G	T T	missense_variant missense_variant	MODERATE	HG02074.hp1 HG02074.hp1	a0202 a0202	a0202c0068 a0202c0068	a0202c0068t0001 a0202c0068t0001	a0202c0068t0001g0286 a0202c0068t0001g0286	1	356	0.0028	c.241 others(4): Show c.2416C>A	p.Pro others(6): Show p.Pro806Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2553/18335	2416/17388	806/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953212	G G	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG02698.hp2 others(9): Show HG00438.hp2 HG00558.hp1 HG02698.hp2 HG03710.hp2 NA18951.hp1 NA18956.hp2 NA18970.hp1 NA18981.hp1 NA19005.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1	a0004 a0056 a0057 others(1): Show a0004 a0056 a0057 a0058	a0004c0005 a0004c0157 a0004c0158 others(3): Show a0004c0005 a0004c0157 a0004c0158 a0056c0159 a0057c0156 a0058c0155	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(3): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(7): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047	12	356	0.0337	c.223 others(4): Show c.2239C>A	p.Pro others(6): Show p.Pro747Thr	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2376/18335	2239/17388	747/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953214	C C	G G	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01168.hp2 HG02735.hp2 others(2): Show HG01099.hp1 HG01168.hp2 HG02735.hp2 HG03834.hp1 HG04228.hp1	a0016 a0059 a0060 a0016 a0059 a0060	a0016c0041 a0016c0160 a0059c0161 others(1): Show a0016c0041 a0016c0160 a0059c0161 a0060c0162	a0016c0041t0006 a0016c0160t0006 a0059c0161t0013 others(1): Show a0016c0041t0006 a0016c0160t0006 a0059c0161t0013 a0060c0162t0006	a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 others(2): Show a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0059c0161t0013g0128 a0060c0162t0006g0035	5	356	0.0140	c.223 others(4): Show c.2237G>C	p.Gly others(6): Show p.Gly746Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2374/18335	2237/17388	746/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953220	G G	A A	missense_variant missense_variant	MODERATE	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	a0004 a0006 a0009 others(56): Show a0004 a0006 a0009 a0010 a0016 a0017 a0018 a0019 a0020 a0026 a0027 a0028 a0053 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0100 a0101 a0207 a0211	a0004c0005 a0004c0157 a0004c0158 others(63): Show a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0053c0246 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0063c0168 a0064c0165 a0065c0203 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0075c0164 a0076c0163 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0092c0191 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0100c0062 a0101c0063 a0207c0206 a0211c0247	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(63): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0053c0246t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0063c0168t0001 a0064c0165t0001 a0065c0203t0002 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0075c0164t0001 a0076c0163t0001 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0092c0191t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0100c0062t0002 a0101c0063t0002 a0207c0206t0002 a0211c0247t0002	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(78): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0053c0246t0002g0074 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0063c0168t0001g0248 a0064c0165t0001g0247 a0065c0203t0002g0201 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0075c0164t0001g0301 a0076c0163t0001g0300 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0092c0191t0001g0196 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0100c0062t0002g0154 a0101c0063t0002g0155 a0207c0206t0002g0223 a0211c0247t0002g0206	93	356	0.2612	c.223 others(4): Show c.2231C>T	p.Pro others(6): Show p.Pro744Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2368/18335	2231/17388	744/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953273	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00558.hp1 HG02698.hp2 others(9): Show HG00438.hp2 HG00558.hp1 HG02698.hp2 HG03710.hp2 NA18951.hp1 NA18956.hp2 NA18970.hp1 NA18981.hp1 NA19005.hp2 NA19070.hp2 NA19074.hp2 NA19076.hp1	a0004 a0056 a0057 others(1): Show a0004 a0056 a0057 a0058	a0004c0005 a0004c0157 a0004c0158 others(3): Show a0004c0005 a0004c0157 a0004c0158 a0056c0159 a0057c0156 a0058c0155	a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 others(3): Show a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004	a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 others(7): Show a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047	12	356	0.0337	c.217 others(4): Show c.2178G>C	p.Gln others(6): Show p.Gln726His	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2315/18335	2178/17388	726/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953316	A A	G G	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0203 a0203	a0203c0210 a0203c0210	a0203c0210t0003 a0203c0210t0003	a0203c0210t0003g0149 a0203c0210t0003g0149	1	356	0.0028	c.213 others(4): Show c.2135T>C	p.Leu others(6): Show p.Leu712Pro	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2272/18335	2135/17388	712/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953346	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0204 a0204	a0204c0053 a0204c0053	a0204c0053t0001 a0204c0053t0001	a0204c0053t0001g0065 a0204c0053t0001g0065	1	356	0.0028	c.210 others(4): Show c.2105C>T	p.Ala others(6): Show p.Ala702Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2242/18335	2105/17388	702/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953391	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0055 a0055	a0055c0205 a0055c0205	a0055c0205t0002 a0055c0205t0002	a0055c0205t0002g0069 a0055c0205t0002g0069	1	356	0.0028	c.206 others(4): Show c.2060C>T	p.Ala others(6): Show p.Ala687Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2197/18335	2060/17388	687/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953400	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0055 a0055	a0055c0205 a0055c0205	a0055c0205t0002 a0055c0205t0002	a0055c0205t0002g0069 a0055c0205t0002g0069	1	356	0.0028	c.205 others(4): Show c.2051T>C	p.Leu others(6): Show p.Leu684Ser	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2188/18335	2051/17388	684/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953403	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0055 a0055	a0055c0205 a0055c0205	a0055c0205t0002 a0055c0205t0002	a0055c0205t0002g0069 a0055c0205t0002g0069	1	356	0.0028	c.204 others(4): Show c.2048C>T	p.Pro others(6): Show p.Pro683Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2185/18335	2048/17388	683/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953418	G G	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02976.hp1 NA19030.hp2 others(1): Show HG00639.hp1 HG02976.hp1 NA19030.hp2 NA20300.hp2	a0100 a0101 a0102 others(1): Show a0100 a0101 a0102 a0103	a0100c0062 a0101c0063 a0102c0064 others(1): Show a0100c0062 a0101c0063 a0102c0064 a0103c0065	a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 others(1): Show a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003	a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 others(1): Show a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156	4	356	0.0112	c.203 others(4): Show c.2033C>G	p.Pro others(6): Show p.Pro678Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2170/18335	2033/17388	678/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104953578	C C	T T	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03704.hp2	a0206 a0206	a0206c0066 a0206c0066	a0206c0066t0001 a0206c0066t0001	a0206c0066t0001g0183 a0206c0066t0001g0183	1	356	0.0028	c.187 others(4): Show c.1873G>A	p.Glu others(6): Show p.Glu625Lys	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	2010/18335	1873/17388	625/5795	chr14	TogoVar

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