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
AKAP9_chr7_91935862_92115673	92001218	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02818.hp1 HG02922.hp2 others(1): Show HG01884.hp1 HG02818.hp1 HG02922.hp2 HG03139.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0198 a0006c0006t0001g0200 a0006c0006t0001g0203 others(1): Show a0006c0006t0001g0198 a0006c0006t0001g0200 a0006c0006t0001g0203 a0006c0006t0001g0204	4	306	0.0131	c.130 others(4): Show c.1301G>A	p.Arg others(6): Show p.Arg434Gln	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	8/50	1539/12476	1301/11724	434/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92001289	G G	C C	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0028 a0028	a0028c0014 a0028c0014	a0028c0014t0002 a0028c0014t0002	a0028c0014t0002g0208 a0028c0014t0002g0208	1	306	0.0033	c.137 others(4): Show c.1372G>C	p.Ala others(6): Show p.Ala458Pro	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	8/50	1610/12476	1372/11724	458/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92001306	G G	T T	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(96): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18979.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0007 others(8): Show a0002 a0003 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0028	a0002c0002 a0002c0033 a0003c0003 others(9): Show a0002c0002 a0002c0033 a0003c0003 a0007c0007 a0008c0009 a0009c0012 a0011c0029 a0012c0030 a0013c0031 a0014c0013 a0015c0032 a0028c0014	a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 others(10): Show a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 a0003c0003t0002 a0007c0007t0002 a0008c0009t0002 a0009c0012t0002 a0011c0029t0002 a0012c0030t0002 a0013c0031t0002 a0014c0013t0002 a0015c0032t0002 a0028c0014t0002	a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 others(96): Show a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0003g0258 a0002c0002t0003g0261 a0002c0002t0003g0266 a0002c0033t0002g0275 a0003c0003t0002g0212 a0003c0003t0002g0240 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0301 a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304 a0008c0009t0002g0207 a0008c0009t0002g0209 a0008c0009t0002g0210 a0009c0012t0002g0217 a0009c0012t0002g0218 a0011c0029t0002g0283 a0012c0030t0002g0229 a0013c0031t0002g0278 a0014c0013t0002g0211 a0015c0032t0002g0239 a0028c0014t0002g0208	99	306	0.3235	c.138 others(4): Show c.1389G>T	p.Met others(6): Show p.Met463Ile	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	8/50	1627/12476	1389/11724	463/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92001559	A A	G G	missense_variant missense_variant	MODERATE	NA18939.hp1 NA18939.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0003 a0016c0028t0001g0003	1	306	0.0033	c.164 others(4): Show c.1642A>G	p.Arg others(6): Show p.Arg548Gly	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	8/50	1880/12476	1642/11724	548/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92001568	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0002 a0015c0032t0002	a0015c0032t0002g0239 a0015c0032t0002g0239	1	306	0.0033	c.165 others(4): Show c.1651A>G	p.Ile others(6): Show p.Ile551Val	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	8/50	1889/12476	1651/11724	551/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92002342	A A	G G	missense_variant missense_variant	MODERATE	HG06807.hp2 HG06807.hp2	a0027 a0027	a0027c0027 a0027c0027	a0027c0027t0001 a0027c0027t0001	a0027c0027t0001g0150 a0027c0027t0001g0150	1	306	0.0033	c.242 others(4): Show c.2425A>G	p.Ile others(6): Show p.Ile809Val	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	8/50	2663/12476	2425/11724	809/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92017092	G G	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 NA19086.hp1 HG03688.hp1 NA19086.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0191 a0010c0010t0001g0195 a0010c0010t0001g0191 a0010c0010t0001g0195	2	306	0.0065	c.382 others(4): Show c.3827G>A	p.Arg others(7): Show p.Arg1276Gln	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	12/50	4065/12476	3827/11724	1276/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92029945	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01243.hp1 HG01884.hp1 others(13): Show HG00639.hp1 HG01243.hp1 HG01884.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03688.hp1 NA19086.hp1 NA19240.hp1	a0004 a0006 a0010 a0004 a0006 a0010	a0004c0004 a0006c0006 a0010c0010 a0004c0004 a0006c0006 a0010c0010	a0004c0004t0001 a0006c0006t0001 a0010c0010t0001 a0004c0004t0001 a0006c0006t0001 a0010c0010t0001	a0004c0004t0001g0192 a0004c0004t0001g0193 a0004c0004t0001g0194 others(13): Show a0004c0004t0001g0192 a0004c0004t0001g0193 a0004c0004t0001g0194 a0004c0004t0001g0196 a0004c0004t0001g0197 a0004c0004t0001g0199 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0205 a0004c0004t0001g0206 a0006c0006t0001g0198 a0006c0006t0001g0200 a0006c0006t0001g0203 a0006c0006t0001g0204 a0010c0010t0001g0191 a0010c0010t0001g0195	16	306	0.0523	c.419 others(4): Show c.4199T>C	p.Met others(7): Show p.Met1400Thr	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	15/50	4437/12476	4199/11724	1400/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92038599	G G	C C	missense_variant missense_variant	MODERATE	HG03471.hp2 HG03471.hp2	a0014 a0014	a0014c0013 a0014c0013	a0014c0013t0002 a0014c0013t0002	a0014c0013t0002g0211 a0014c0013t0002g0211	1	306	0.0033	c.451 others(4): Show c.4519G>C	p.Asp others(7): Show p.Asp1507His	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	17/50	4757/12476	4519/11724	1507/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92040822	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02572.hp1 HG02630.hp2 others(1): Show HG02257.hp1 HG02572.hp1 HG02630.hp2 HG02809.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 others(1): Show a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304	4	306	0.0131	c.484 others(4): Show c.4841G>A	p.Arg others(7): Show p.Arg1614Gln	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	18/50	5079/12476	4841/11724	1614/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92052785	A A	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0025 a0025	a0025c0026 a0025c0026	a0025c0026t0001 a0025c0026t0001	a0025c0026t0001g0075 a0025c0026t0001g0075	1	306	0.0033	c.542 others(4): Show c.5428A>G	p.Met others(7): Show p.Met1810Val	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	22/50	5666/12476	5428/11724	1810/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92065387	A A	G G	missense_variant missense_variant	MODERATE	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0217 a0009c0012t0002g0218 a0009c0012t0002g0217 a0009c0012t0002g0218	2	306	0.0065	c.613 others(4): Show c.6134A>G	p.Asn others(7): Show p.Asn2045Ser	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	25/50	6372/12476	6134/11724	2045/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92079103	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0024 a0024	a0024c0017 a0024c0017	a0024c0017t0001 a0024c0017t0001	a0024c0017t0001g0149 a0024c0017t0001g0149	1	306	0.0033	c.697 others(4): Show c.6970A>G	p.Ile others(7): Show p.Ile2324Val	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	31/50	7208/12476	6970/11724	2324/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92079584	A A	G G	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00735.hp2 HG01169.hp2 others(7): Show HG00642.hp2 HG00735.hp2 HG01169.hp2 HG02129.hp1 HG02602.hp2 HG03239.hp1 NA18747.hp2 NA19068.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0005 a0024 a0005 a0024	a0005c0005 a0024c0017 a0005c0005 a0024c0017	a0005c0005t0001 a0024c0017t0001 a0005c0005t0001 a0024c0017t0001	a0005c0005t0001g0127 a0005c0005t0001g0128 a0005c0005t0001g0129 others(7): Show a0005c0005t0001g0127 a0005c0005t0001g0128 a0005c0005t0001g0129 a0005c0005t0001g0147 a0005c0005t0001g0148 a0005c0005t0001g0152 a0005c0005t0001g0153 a0005c0005t0001g0154 a0005c0005t0001g0155 a0024c0017t0001g0149	10	306	0.0327	c.745 others(4): Show c.7451A>G	p.Lys others(7): Show p.Lys2484Arg	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	31/50	7689/12476	7451/11724	2484/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92079906	A A	C C	missense_variant missense_variant	MODERATE	HG04199.hp1 HG04199.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0063 a0017c0025t0001g0063	1	306	0.0033	c.777 others(4): Show c.7773A>C	p.Gln others(7): Show p.Gln2591His	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	31/50	8011/12476	7773/11724	2591/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92083198	A A	G G	missense_variant missense_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0001 a0023c0024t0001	a0023c0024t0001g0160 a0023c0024t0001g0160	1	306	0.0033	c.818 others(4): Show c.8189A>G	p.Gln others(7): Show p.Gln2730Arg	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	33/50	8427/12476	8189/11724	2730/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92083384	A A	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00639.hp2 HG00642.hp1 others(72): Show HG00280.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp1 HG01074.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02145.hp1 HG02155.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18979.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0002 a0011 a0012 others(1): Show a0002 a0011 a0012 a0013	a0002c0002 a0002c0033 a0011c0029 others(2): Show a0002c0002 a0002c0033 a0011c0029 a0012c0030 a0013c0031	a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 a0011c0029t0002 a0012c0030t0002 a0013c0031t0002	a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 others(72): Show a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0003g0258 a0002c0002t0003g0261 a0002c0002t0003g0266 a0002c0033t0002g0275 a0011c0029t0002g0283 a0012c0030t0002g0229 a0013c0031t0002g0278	75	306	0.2451	c.837 others(4): Show c.8375A>G	p.Asn others(7): Show p.Asn2792Ser	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	33/50	8613/12476	8375/11724	2792/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92085556	A A	G G	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0001 a0018c0023t0001	a0018c0023t0001g0182 a0018c0023t0001g0182	1	306	0.0033	c.889 others(4): Show c.8894A>G	p.Tyr others(7): Show p.Tyr2965Cys	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	36/50	9132/12476	8894/11724	2965/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92085597	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp2 HG00423.hp1 others(302): Show HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028	a0001c0001 a0001c0008 a0001c0011 others(29): Show a0001c0001 a0001c0008 a0001c0011 a0001c0018 a0001c0022 a0002c0002 a0002c0033 a0003c0003 a0004c0004 a0005c0005 a0006c0006 a0007c0007 a0008c0009 a0009c0012 a0010c0010 a0011c0029 a0012c0030 a0013c0031 a0014c0013 a0015c0032 a0016c0028 a0017c0025 a0018c0023 a0020c0019 a0021c0020 a0022c0021 a0023c0024 a0024c0017 a0025c0026 a0026c0015 a0027c0027 a0028c0014	a0001c0001t0001 a0001c0008t0001 a0001c0011t0001 others(30): Show a0001c0001t0001 a0001c0008t0001 a0001c0011t0001 a0001c0018t0001 a0001c0022t0001 a0002c0002t0002 a0002c0002t0003 a0002c0033t0002 a0003c0003t0002 a0004c0004t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0002 a0008c0009t0002 a0009c0012t0002 a0010c0010t0001 a0011c0029t0002 a0012c0030t0002 a0013c0031t0002 a0014c0013t0002 a0015c0032t0002 a0016c0028t0001 a0017c0025t0001 a0018c0023t0001 a0020c0019t0001 a0021c0020t0001 a0022c0021t0001 a0023c0024t0001 a0024c0017t0001 a0025c0026t0001 a0026c0015t0001 a0027c0027t0001 a0028c0014t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(302): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0008t0001g0091 a0001c0008t0001g0188 a0001c0008t0001g0189 a0001c0011t0001g0011 a0001c0011t0001g0013 a0001c0018t0001g0010 a0001c0022t0001g0126 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0003g0258 a0002c0002t0003g0261 a0002c0002t0003g0266 a0002c0033t0002g0275 a0003c0003t0002g0212 a0003c0003t0002g0240 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0301 a0004c0004t0001g0192 a0004c0004t0001g0193 a0004c0004t0001g0194 a0004c0004t0001g0196 a0004c0004t0001g0197 a0004c0004t0001g0199 a0004c0004t0001g0201 a0004c0004t0001g0202 a0004c0004t0001g0205 a0004c0004t0001g0206 a0005c0005t0001g0127 a0005c0005t0001g0128 a0005c0005t0001g0129 a0005c0005t0001g0147 a0005c0005t0001g0148 a0005c0005t0001g0152 a0005c0005t0001g0153 a0005c0005t0001g0154 a0005c0005t0001g0155 a0006c0006t0001g0198 a0006c0006t0001g0200 a0006c0006t0001g0203 a0006c0006t0001g0204 a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304 a0008c0009t0002g0207 a0008c0009t0002g0209 a0008c0009t0002g0210 a0009c0012t0002g0217 a0009c0012t0002g0218 a0010c0010t0001g0191 a0010c0010t0001g0195 a0011c0029t0002g0283 a0012c0030t0002g0229 a0013c0031t0002g0278 a0014c0013t0002g0211 a0015c0032t0002g0239 a0016c0028t0001g0003 a0017c0025t0001g0063 a0018c0023t0001g0182 a0020c0019t0001g0123 a0021c0020t0001g0141 a0022c0021t0001g0166 a0023c0024t0001g0160 a0024c0017t0001g0149 a0025c0026t0001g0075 a0026c0015t0001g0001 a0027c0027t0001g0150 a0028c0014t0002g0208	305	306	0.9967	c.893 others(4): Show c.8935C>T	p.Pro others(7): Show p.Pro2979Ser	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	36/50	9173/12476	8935/11724	2979/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92096888	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02572.hp1 HG02630.hp2 others(1): Show HG02257.hp1 HG02572.hp1 HG02630.hp2 HG02809.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 others(1): Show a0007c0007t0002g0287 a0007c0007t0002g0302 a0007c0007t0002g0303 a0007c0007t0002g0304	4	306	0.0131	c.992 others(4): Show c.9929G>A	p.Arg others(7): Show p.Arg3310Gln	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	41/50	10167/12476	9929/11724	3310/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92097290	A A	G G	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02976.hp2 HG03225.hp2 others(1): Show HG02280.hp2 HG02976.hp2 HG03225.hp2 NA18906.hp1	a0008 a0026 a0008 a0026	a0008c0009 a0026c0015 a0008c0009 a0026c0015	a0008c0009t0002 a0026c0015t0001 a0008c0009t0002 a0026c0015t0001	a0008c0009t0002g0207 a0008c0009t0002g0209 a0008c0009t0002g0210 others(1): Show a0008c0009t0002g0207 a0008c0009t0002g0209 a0008c0009t0002g0210 a0026c0015t0001g0001	4	306	0.0131	c.103 others(5): Show c.10331A>G	p.Gln others(7): Show p.Gln3444Arg	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	41/50	10569/12476	10331/11724	3444/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92097734	G G	A A	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00642.hp1	a0011 a0011	a0011c0029 a0011c0029	a0011c0029t0002 a0011c0029t0002	a0011c0029t0002g0283 a0011c0029t0002g0283	1	306	0.0033	c.105 others(5): Show c.10547G>A	p.Arg others(7): Show p.Arg3516Lys	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	42/50	10785/12476	10547/11724	3516/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92099813	A A	G G	missense_variant missense_variant	MODERATE	HG01361.hp1 HG01361.hp1	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0002 a0013c0031t0002	a0013c0031t0002g0278 a0013c0031t0002g0278	1	306	0.0033	c.108 others(5): Show c.10840A>G	p.Met others(7): Show p.Met3614Val	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	44/50	11078/12476	10840/11724	3614/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92099831	A A	G G	missense_variant missense_variant	MODERATE	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0002 a0009c0012t0002	a0009c0012t0002g0217 a0009c0012t0002g0218 a0009c0012t0002g0217 a0009c0012t0002g0218	2	306	0.0065	c.108 others(5): Show c.10858A>G	p.Ile others(7): Show p.Ile3620Val	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	44/50	11096/12476	10858/11724	3620/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92102730	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0001 a0020c0019t0001	a0020c0019t0001g0123 a0020c0019t0001g0123	1	306	0.0033	c.112 others(5): Show c.11234G>A	p.Gly others(7): Show p.Gly3745Glu	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	46/50	11472/12476	11234/11724	3745/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92102769	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01106.hp1	a0021 a0021	a0021c0020 a0021c0020	a0021c0020t0001 a0021c0020t0001	a0021c0020t0001g0141 a0021c0020t0001g0141	1	306	0.0033	c.112 others(5): Show c.11273G>A	p.Arg others(7): Show p.Arg3758His	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	46/50	11511/12476	11273/11724	3758/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92108520	A A	G G	missense_variant missense_variant	MODERATE	HG01978.hp1 HG01978.hp1	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0002 a0012c0030t0002	a0012c0030t0002g0229 a0012c0030t0002g0229	1	306	0.0033	c.115 others(5): Show c.11573A>G	p.Asn others(7): Show p.Asn3858Ser	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	49/50	11811/12476	11573/11724	3858/3907	chr7	TogoVar
AKAP9_chr7_91935862_92115673	92110149	T T	C C	missense_variant missense_variant	MODERATE	HG02523.hp1 HG02523.hp1	a0022 a0022	a0022c0021 a0022c0021	a0022c0021t0001 a0022c0021t0001	a0022c0021t0001g0166 a0022c0021t0001g0166	1	306	0.0033	c.117 others(5): Show c.11714T>C	p.Met others(7): Show p.Met3905Thr	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	50/50	11952/12476	11714/11724	3905/3907	chr7	TogoVar
AKIP1_chr11_8906189_8925079	8911457	A A	C C	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02647.hp2 HG02896.hp2 others(3): Show HG02572.hp1 HG02647.hp2 HG02896.hp2 HG02976.hp2 HG03225.hp1 NA20300.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0008 a0003c0003t0001g0013 a0003c0003t0001g0008 a0003c0003t0001g0013	6	420	0.0143	c.8A> others(1): Show c.8A>C	p.Asn others(4): Show p.Asn3Thr	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	2/6	49/1273	8/633	3/210	chr11	TogoVar
AKIP1_chr11_8906189_8925079	8911517	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00733.hp1 HG01069.hp2 others(28): Show HG00280.hp2 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02280.hp2 HG02602.hp2 HG02647.hp1 HG02698.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG06807.hp2 NA20752.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0021 a0002c0002t0001g0024 others(11): Show a0002c0002t0001g0006 a0002c0002t0001g0021 a0002c0002t0001g0024 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0111 a0002c0002t0001g0113	31	420	0.0738	c.68G others(2): Show c.68G>A	p.Arg others(5): Show p.Arg23Lys	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	2/6	109/1273	68/633	23/210	chr11	TogoVar
AKIP1_chr11_8906189_8925079	8911604	T T	C C	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0046 a0009c0007t0002g0046	1	420	0.0024	c.155 others(3): Show c.155T>C	p.Leu others(5): Show p.Leu52Pro	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	2/6	196/1273	155/633	52/210	chr11	TogoVar
AKIP1_chr11_8906189_8925079	8914913	G G	C C	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02486.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0107 a0008c0008t0001g0107	1	420	0.0024	c.391 others(3): Show c.391G>C	p.Asp others(6): Show p.Asp131His	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	4/6	432/1273	391/633	131/210	chr11	TogoVar
AKIP1_chr11_8906189_8925079	8914917	T T	C C	missense_variant missense_variant	MODERATE	HG00642.hp2 HG01168.hp2 HG03491.hp1 others(2): Show HG00642.hp2 HG01168.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0019 a0004c0004t0003g0047 a0004c0004t0003g0048 a0004c0004t0003g0019 a0004c0004t0003g0047 a0004c0004t0003g0048	5	420	0.0119	c.395 others(3): Show c.395T>C	p.Ile others(6): Show p.Ile132Thr	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	4/6	436/1273	395/633	132/210	chr11	TogoVar
AKIP1_chr11_8906189_8925079	8917348	C C	G G	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0121 a0007c0010t0001g0121	1	420	0.0024	c.470 others(3): Show c.470C>G	p.Ala others(6): Show p.Ala157Gly	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	5/6	511/1273	470/633	157/210	chr11	TogoVar
AKIP1_chr11_8906189_8925079	8919342	G G	C C	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0118 a0006c0009t0002g0118	1	420	0.0024	c.495 others(3): Show c.495G>C	p.Glu others(6): Show p.Glu165Asp	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	6/6	536/1273	495/633	165/210	chr11	TogoVar
AKIP1_chr11_8906189_8925079	8919442	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG03041.hp1 HG02280.hp1 HG03041.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0006 a0005c0005t0001g0024 a0005c0005t0001g0006 a0005c0005t0001g0024	2	420	0.0048	c.595 others(3): Show c.595G>A	p.Asp others(6): Show p.Asp199Asn	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding	6/6	636/1273	595/633	199/210	chr11	TogoVar
AKIRIN1_chr1_38986276_39011059	39000980	T T	C C	missense_variant missense_variant	MODERATE	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0021 a0002c0003t0001g0021	1	426	0.0024	c.370 others(3): Show c.370T>C	p.Trp others(6): Show p.Trp124Arg	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	3/5	475/2688	370/579	124/192	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108816275	G G	C C	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0024 a0024	a0024c0047 a0024c0047	a0024c0047t0001 a0024c0047t0001	a0024c0047t0001g0279 a0024c0047t0001g0279	1	398	0.0025	c.240 others(4): Show c.2407C>G	p.Leu others(6): Show p.Leu803Val	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	16/16	2676/3050	2407/2511	803/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108817080	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0023 a0023	a0023c0045 a0023c0045	a0023c0045t0002 a0023c0045t0002	a0023c0045t0002g0287 a0023c0045t0002g0287	1	398	0.0025	c.234 others(4): Show c.2347G>A	p.Asp others(6): Show p.Asp783Asn	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	15/16	2616/3050	2347/2511	783/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108823664	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp1 HG00609.hp1 others(49): Show HG00140.hp2 HG00408.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01884.hp2 HG01952.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG03139.hp2 HG03471.hp1 HG03516.hp1 HG03654.hp2 HG04228.hp2 NA18946.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18973.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19009.hp1 NA19074.hp1 NA19084.hp1 NA20752.hp1 NA20905.hp2	a0004 a0005 a0008 others(7): Show a0004 a0005 a0008 a0013 a0014 a0015 a0016 a0023 a0025 a0028	a0004c0043 a0005c0004 a0005c0022 others(11): Show a0004c0043 a0005c0004 a0005c0022 a0005c0033 a0008c0010 a0013c0019 a0014c0027 a0014c0071 a0015c0034 a0015c0051 a0016c0025 a0023c0045 a0025c0066 a0028c0059	a0004c0043t0002 a0005c0004t0001 a0005c0004t0002 others(16): Show a0004c0043t0002 a0005c0004t0001 a0005c0004t0002 a0005c0004t0003 a0005c0004t0004 a0005c0022t0001 a0005c0033t0002 a0008c0010t0001 a0008c0010t0002 a0008c0010t0004 a0013c0019t0002 a0014c0027t0004 a0014c0071t0004 a0015c0034t0007 a0015c0051t0001 a0016c0025t0004 a0023c0045t0002 a0025c0066t0002 a0028c0059t0004	a0004c0043t0002g0206 a0005c0004t0001g0179 a0005c0004t0002g0023 others(46): Show a0004c0043t0002g0206 a0005c0004t0001g0179 a0005c0004t0002g0023 a0005c0004t0002g0129 a0005c0004t0002g0132 a0005c0004t0002g0143 a0005c0004t0002g0147 a0005c0004t0002g0153 a0005c0004t0002g0174 a0005c0004t0002g0180 a0005c0004t0002g0220 a0005c0004t0002g0224 a0005c0004t0002g0230 a0005c0004t0002g0231 a0005c0004t0002g0238 a0005c0004t0002g0239 a0005c0004t0002g0343 a0005c0004t0003g0087 a0005c0004t0004g0096 a0005c0022t0001g0144 a0005c0022t0001g0205 a0005c0022t0001g0221 a0005c0033t0002g0029 a0008c0010t0001g0117 a0008c0010t0001g0245 a0008c0010t0002g0015 a0008c0010t0002g0135 a0008c0010t0002g0146 a0008c0010t0002g0198 a0008c0010t0002g0277 a0008c0010t0002g0341 a0008c0010t0004g0073 a0013c0019t0002g0168 a0013c0019t0002g0170 a0013c0019t0002g0171 a0013c0019t0002g0190 a0014c0027t0004g0091 a0014c0027t0004g0093 a0014c0027t0004g0094 a0014c0071t0004g0097 a0015c0034t0007g0043 a0015c0034t0007g0044 a0015c0051t0001g0286 a0016c0025t0004g0079 a0016c0025t0004g0080 a0016c0025t0004g0085 a0023c0045t0002g0287 a0025c0066t0002g0305 a0028c0059t0004g0060	52	398	0.1307	c.196 others(4): Show c.1961G>A	p.Cys others(6): Show p.Cys654Tyr	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	12/16	2230/3050	1961/2511	654/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108827293	G G	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp2 NA18969.hp1 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(15): Show a0002 a0003 a0005 a0007 a0009 a0014 a0015 a0017 a0019 a0020 a0022 a0024 a0025 a0027 a0028 a0029 a0030 a0032	a0002c0002 a0002c0005 a0002c0015 others(35): Show a0002c0002 a0002c0005 a0002c0015 a0002c0024 a0002c0029 a0002c0030 a0002c0044 a0002c0055 a0003c0009 a0003c0012 a0003c0013 a0003c0016 a0003c0056 a0003c0057 a0005c0004 a0005c0022 a0005c0033 a0007c0014 a0007c0021 a0007c0039 a0009c0020 a0009c0036 a0014c0027 a0014c0071 a0015c0034 a0015c0051 a0017c0032 a0017c0060 a0019c0041 a0020c0053 a0022c0042 a0024c0047 a0025c0066 a0027c0058 a0028c0059 a0029c0063 a0030c0064 a0032c0069	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(49): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0012 a0002c0015t0001 a0002c0015t0002 a0002c0024t0006 a0002c0029t0003 a0002c0029t0004 a0002c0030t0006 a0002c0030t0013 a0002c0044t0002 a0002c0055t0006 a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 a0003c0013t0001 a0003c0016t0001 a0003c0016t0003 a0003c0056t0010 a0003c0057t0006 a0005c0004t0001 a0005c0004t0002 a0005c0004t0003 a0005c0004t0004 a0005c0022t0001 a0005c0033t0002 a0007c0014t0001 a0007c0021t0005 a0007c0039t0003 a0009c0020t0002 a0009c0020t0004 a0009c0036t0003 a0014c0027t0004 a0014c0071t0004 a0015c0034t0007 a0015c0051t0001 a0017c0032t0003 a0017c0032t0004 a0017c0060t0003 a0019c0041t0003 a0020c0053t0001 a0022c0042t0003 a0024c0047t0001 a0025c0066t0002 a0027c0058t0004 a0028c0059t0004 a0029c0063t0009 a0030c0064t0001 a0032c0069t0004	a0002c0002t0001g0020 a0002c0002t0001g0111 a0002c0002t0001g0119 others(153): Show a0002c0002t0001g0020 a0002c0002t0001g0111 a0002c0002t0001g0119 a0002c0002t0001g0124 a0002c0002t0001g0142 a0002c0002t0001g0165 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0211 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0264 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0326 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0002g0001 a0002c0002t0002g0112 a0002c0002t0002g0116 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0218 a0002c0002t0002g0266 a0002c0002t0003g0053 a0002c0002t0003g0086 a0002c0005t0001g0022 a0002c0005t0001g0122 a0002c0005t0001g0123 a0002c0005t0001g0133 a0002c0005t0001g0194 a0002c0005t0001g0203 a0002c0005t0001g0219 a0002c0005t0001g0253 a0002c0005t0001g0263 a0002c0005t0001g0274 a0002c0005t0001g0284 a0002c0005t0001g0332 a0002c0005t0001g0344 a0002c0005t0001g0345 a0002c0005t0003g0077 a0002c0005t0003g0088 a0002c0005t0012g0104 a0002c0015t0001g0317 a0002c0015t0002g0031 a0002c0015t0002g0309 a0002c0015t0002g0310 a0002c0015t0002g0316 a0002c0024t0006g0051 a0002c0024t0006g0052 a0002c0024t0006g0054 a0002c0029t0003g0101 a0002c0029t0004g0102 a0002c0030t0006g0078 a0002c0030t0013g0105 a0002c0044t0002g0200 a0002c0055t0006g0056 a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 a0003c0009t0001g0208 a0003c0009t0001g0259 a0003c0009t0001g0261 a0003c0009t0001g0276 a0003c0009t0001g0283 a0003c0009t0001g0291 a0003c0009t0001g0292 a0003c0009t0001g0293 a0003c0009t0001g0294 a0003c0012t0003g0011 a0003c0012t0003g0012 a0003c0012t0003g0065 a0003c0012t0003g0067 a0003c0012t0003g0068 a0003c0012t0003g0072 a0003c0012t0004g0064 a0003c0012t0004g0069 a0003c0013t0001g0027 a0003c0013t0001g0152 a0003c0013t0001g0195 a0003c0013t0001g0232 a0003c0013t0001g0233 a0003c0013t0001g0278 a0003c0013t0001g0280 a0003c0016t0001g0302 a0003c0016t0001g0303 a0003c0016t0001g0304 a0003c0016t0001g0306 a0003c0016t0003g0070 a0003c0016t0003g0071 a0003c0056t0010g0049 a0003c0057t0006g0048 a0005c0004t0001g0179 a0005c0004t0002g0023 a0005c0004t0002g0129 a0005c0004t0002g0132 a0005c0004t0002g0143 a0005c0004t0002g0147 a0005c0004t0002g0153 a0005c0004t0002g0174 a0005c0004t0002g0180 a0005c0004t0002g0220 a0005c0004t0002g0224 a0005c0004t0002g0230 a0005c0004t0002g0231 a0005c0004t0002g0238 a0005c0004t0002g0239 a0005c0004t0002g0343 a0005c0004t0003g0087 a0005c0004t0004g0096 a0005c0022t0001g0144 a0005c0022t0001g0205 a0005c0022t0001g0221 a0005c0033t0002g0029 a0007c0014t0001g0009 a0007c0014t0001g0032 a0007c0014t0001g0108 a0007c0014t0001g0329 a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0036 a0007c0021t0005g0037 a0007c0039t0003g0045 a0007c0039t0003g0046 a0009c0020t0002g0113 a0009c0020t0004g0047 a0009c0020t0004g0075 a0009c0020t0004g0076 a0009c0036t0003g0013 a0014c0027t0004g0091 a0014c0027t0004g0093 a0014c0027t0004g0094 a0014c0071t0004g0097 a0015c0034t0007g0043 a0015c0034t0007g0044 a0015c0051t0001g0286 a0017c0032t0003g0059 a0017c0032t0004g0057 a0017c0060t0003g0058 a0019c0041t0003g0090 a0020c0053t0001g0296 a0022c0042t0003g0074 a0024c0047t0001g0279 a0025c0066t0002g0305 a0027c0058t0004g0062 a0028c0059t0004g0060 a0029c0063t0009g0042 a0030c0064t0001g0299 a0032c0069t0004g0092	175	398	0.4397	c.184 others(4): Show c.1848C>A	p.Asn others(6): Show p.Asn616Lys	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	11/16	2117/3050	1848/2511	616/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108830574	C C	T T	missense_variant missense_variant	MODERATE	HG02970.hp2 HG03579.hp1 HG02970.hp2 HG03579.hp1	a0022 a0027 a0022 a0027	a0022c0042 a0027c0058 a0022c0042 a0027c0058	a0022c0042t0003 a0027c0058t0004 a0022c0042t0003 a0027c0058t0004	a0022c0042t0003g0074 a0027c0058t0004g0062 a0022c0042t0003g0074 a0027c0058t0004g0062	2	398	0.0050	c.182 others(4): Show c.1823G>A	p.Arg others(6): Show p.Arg608His	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	10/16	2092/3050	1823/2511	608/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108834448	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG00408.hp2 HG00642.hp1 others(62): Show HG00140.hp1 HG00408.hp2 HG00642.hp1 HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18950.hp2 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18969.hp1 NA18980.hp1 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19065.hp1 NA19070.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0003 a0007 a0010 others(6): Show a0003 a0007 a0010 a0013 a0020 a0024 a0025 a0029 a0033	a0003c0009 a0003c0012 a0003c0013 others(15): Show a0003c0009 a0003c0012 a0003c0013 a0003c0016 a0003c0056 a0003c0057 a0007c0014 a0007c0021 a0007c0039 a0010c0023 a0010c0048 a0010c0049 a0013c0019 a0020c0053 a0024c0047 a0025c0066 a0029c0063 a0033c0070	a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 others(17): Show a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 a0003c0013t0001 a0003c0016t0001 a0003c0016t0003 a0003c0056t0010 a0003c0057t0006 a0007c0014t0001 a0007c0021t0005 a0007c0039t0003 a0010c0023t0001 a0010c0048t0001 a0010c0049t0002 a0013c0019t0002 a0020c0053t0001 a0024c0047t0001 a0025c0066t0002 a0029c0063t0009 a0033c0070t0003	a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 others(56): Show a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 a0003c0009t0001g0208 a0003c0009t0001g0259 a0003c0009t0001g0261 a0003c0009t0001g0276 a0003c0009t0001g0283 a0003c0009t0001g0291 a0003c0009t0001g0292 a0003c0009t0001g0293 a0003c0009t0001g0294 a0003c0012t0003g0011 a0003c0012t0003g0012 a0003c0012t0003g0065 a0003c0012t0003g0067 a0003c0012t0003g0068 a0003c0012t0003g0072 a0003c0012t0004g0064 a0003c0012t0004g0069 a0003c0013t0001g0027 a0003c0013t0001g0152 a0003c0013t0001g0195 a0003c0013t0001g0232 a0003c0013t0001g0233 a0003c0013t0001g0278 a0003c0013t0001g0280 a0003c0016t0001g0302 a0003c0016t0001g0303 a0003c0016t0001g0304 a0003c0016t0001g0306 a0003c0016t0003g0070 a0003c0016t0003g0071 a0003c0056t0010g0049 a0003c0057t0006g0048 a0007c0014t0001g0009 a0007c0014t0001g0032 a0007c0014t0001g0108 a0007c0014t0001g0329 a0007c0021t0005g0034 a0007c0021t0005g0035 a0007c0021t0005g0036 a0007c0021t0005g0037 a0007c0039t0003g0045 a0007c0039t0003g0046 a0010c0023t0001g0157 a0010c0023t0001g0342 a0010c0023t0001g0346 a0010c0048t0001g0158 a0010c0049t0002g0281 a0013c0019t0002g0168 a0013c0019t0002g0170 a0013c0019t0002g0171 a0013c0019t0002g0190 a0020c0053t0001g0296 a0024c0047t0001g0279 a0025c0066t0002g0305 a0029c0063t0009g0042 a0033c0070t0003g0100	65	398	0.1633	c.174 others(4): Show c.1745G>T	p.Gly others(6): Show p.Gly582Val	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	9/16	2014/3050	1745/2511	582/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108834518	C C	A A	missense_variant missense_variant	MODERATE	NA19057.hp1 NA19057.hp1	a0021 a0021	a0021c0067 a0021c0067	a0021c0067t0001 a0021c0067t0001	a0021c0067t0001g0350 a0021c0067t0001g0350	1	398	0.0025	c.167 others(4): Show c.1675G>T	p.Gly others(6): Show p.Gly559Cys	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	9/16	1944/3050	1675/2511	559/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108849040	G G	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01123.hp2 HG01167.hp1 others(15): Show HG00140.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01952.hp2 HG02258.hp1 HG02615.hp2 HG02630.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03516.hp1 NA19030.hp1 NA20129.hp2	a0009 a0011 a0015 others(2): Show a0009 a0011 a0015 a0016 a0033	a0009c0020 a0009c0036 a0011c0026 others(5): Show a0009c0020 a0009c0036 a0011c0026 a0011c0035 a0015c0034 a0015c0051 a0016c0025 a0033c0070	a0009c0020t0002 a0009c0020t0004 a0009c0036t0003 others(7): Show a0009c0020t0002 a0009c0020t0004 a0009c0036t0003 a0011c0026t0003 a0011c0026t0004 a0011c0035t0003 a0015c0034t0007 a0015c0051t0001 a0016c0025t0004 a0033c0070t0003	a0009c0020t0002g0113 a0009c0020t0004g0047 a0009c0020t0004g0075 others(14): Show a0009c0020t0002g0113 a0009c0020t0004g0047 a0009c0020t0004g0075 a0009c0020t0004g0076 a0009c0036t0003g0013 a0011c0026t0003g0084 a0011c0026t0004g0083 a0011c0026t0004g0089 a0011c0035t0003g0081 a0011c0035t0003g0082 a0015c0034t0007g0043 a0015c0034t0007g0044 a0015c0051t0001g0286 a0016c0025t0004g0079 a0016c0025t0004g0080 a0016c0025t0004g0085 a0033c0070t0003g0100	18	398	0.0452	c.105 others(4): Show c.1054C>G	p.Leu others(6): Show p.Leu352Val	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	4/16	1323/3050	1054/2511	352/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108851785	C C	A A	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0026 a0026	a0026c0052 a0026c0052	a0026c0052t0001 a0026c0052t0001	a0026c0052t0001g0295 a0026c0052t0001g0295	1	398	0.0025	c.880 others(3): Show c.880G>T	p.Asp others(6): Show p.Asp294Tyr	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	1149/3050	880/2511	294/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108851790	G G	A A	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0020 a0020	a0020c0053 a0020c0053	a0020c0053t0001 a0020c0053t0001	a0020c0053t0001g0296 a0020c0053t0001g0296	1	398	0.0025	c.875 others(3): Show c.875C>T	p.Ser others(6): Show p.Ser292Leu	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	1144/3050	875/2511	292/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108851902	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01891.hp1 HG02647.hp1 others(2): Show HG01884.hp1 HG01891.hp1 HG02647.hp1 HG02976.hp1 NA19240.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0005 a0012c0018t0008 a0012c0018t0005 a0012c0018t0008	a0012c0018t0005g0038 a0012c0018t0005g0039 a0012c0018t0005g0040 others(2): Show a0012c0018t0005g0038 a0012c0018t0005g0039 a0012c0018t0005g0040 a0012c0018t0005g0041 a0012c0018t0008g0033	5	398	0.0126	c.763 others(3): Show c.763C>T	p.His others(6): Show p.His255Tyr	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	1032/3050	763/2511	255/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108851971	A A	C C	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02970.hp2 HG03654.hp2 others(5): Show HG02886.hp1 HG02970.hp2 HG03654.hp2 HG04115.hp2 NA18944.hp2 NA18969.hp2 NA18990.hp1 NA20905.hp1	a0017 a0018 a0027 others(2): Show a0017 a0018 a0027 a0028 a0029	a0017c0032 a0017c0060 a0018c0061 others(4): Show a0017c0032 a0017c0060 a0018c0061 a0018c0062 a0027c0058 a0028c0059 a0029c0063	a0017c0032t0003 a0017c0032t0004 a0017c0060t0003 others(5): Show a0017c0032t0003 a0017c0032t0004 a0017c0060t0003 a0018c0061t0004 a0018c0062t0003 a0027c0058t0004 a0028c0059t0004 a0029c0063t0009	a0017c0032t0003g0059 a0017c0032t0004g0057 a0017c0060t0003g0058 others(5): Show a0017c0032t0003g0059 a0017c0032t0004g0057 a0017c0060t0003g0058 a0018c0061t0004g0061 a0018c0062t0003g0063 a0027c0058t0004g0062 a0028c0059t0004g0060 a0029c0063t0009g0042	8	398	0.0201	c.694 others(3): Show c.694T>G	p.Ser others(6): Show p.Ser232Ala	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	963/3050	694/2511	232/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108851987	T T	A A	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02970.hp2 HG03654.hp2 others(5): Show HG02886.hp1 HG02970.hp2 HG03654.hp2 HG04115.hp2 NA18944.hp2 NA18969.hp2 NA18990.hp1 NA20905.hp1	a0017 a0018 a0027 others(2): Show a0017 a0018 a0027 a0028 a0029	a0017c0032 a0017c0060 a0018c0061 others(4): Show a0017c0032 a0017c0060 a0018c0061 a0018c0062 a0027c0058 a0028c0059 a0029c0063	a0017c0032t0003 a0017c0032t0004 a0017c0060t0003 others(5): Show a0017c0032t0003 a0017c0032t0004 a0017c0060t0003 a0018c0061t0004 a0018c0062t0003 a0027c0058t0004 a0028c0059t0004 a0029c0063t0009	a0017c0032t0003g0059 a0017c0032t0004g0057 a0017c0060t0003g0058 others(5): Show a0017c0032t0003g0059 a0017c0032t0004g0057 a0017c0060t0003g0058 a0018c0061t0004g0061 a0018c0062t0003g0063 a0027c0058t0004g0062 a0028c0059t0004g0060 a0029c0063t0009g0042	8	398	0.0201	c.678 others(3): Show c.678A>T	p.Lys others(6): Show p.Lys226Asn	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	947/3050	678/2511	226/836	chr1	TogoVar

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