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
AGAP6_chr10_49983406_50015499	50002013	C C	G G	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0002 a0020c0016t0002	a0020c0016t0002g0177 a0020c0016t0002g0177	1	406	0.0025	c.414 others(3): Show c.414C>G	p.Phe others(6): Show p.Phe138Leu	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	5/8	724/2684	414/2061	138/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50002017	C C	A A	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0002 a0020c0016t0002	a0020c0016t0002g0177 a0020c0016t0002g0177	1	406	0.0025	c.418 others(3): Show c.418C>A	p.Gln others(6): Show p.Gln140Lys	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	5/8	728/2684	418/2061	140/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50002018	A A	T T	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0002 a0020c0016t0002	a0020c0016t0002g0177 a0020c0016t0002g0177	1	406	0.0025	c.419 others(3): Show c.419A>T	p.Gln others(6): Show p.Gln140Leu	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	5/8	729/2684	419/2061	140/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50002021	A A	T T	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0002 a0020c0016t0002	a0020c0016t0002g0177 a0020c0016t0002g0177	1	406	0.0025	c.422 others(3): Show c.422A>T	p.Gln others(6): Show p.Gln141Leu	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	5/8	732/2684	422/2061	141/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50002022	A A	T T	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0002 a0020c0016t0002	a0020c0016t0002g0177 a0020c0016t0002g0177	1	406	0.0025	c.423 others(3): Show c.423A>T	p.Gln others(6): Show p.Gln141His	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	5/8	733/2684	423/2061	141/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50004698	A A	G G	missense_variant missense_variant	MODERATE	HG03239.hp1 HG03239.hp1	a0027 a0027	a0027c0025 a0027c0025	a0027c0025t0001 a0027c0025t0001	a0027c0025t0001g0002 a0027c0025t0001g0002	1	406	0.0025	c.511 others(3): Show c.511A>G	p.Ile others(6): Show p.Ile171Val	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	6/8	821/2684	511/2061	171/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50008871	G G	A A	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0021 a0021	a0021c0017 a0021c0017	a0021c0017t0001 a0021c0017t0001	a0021c0017t0001g0178 a0021c0017t0001g0178	1	406	0.0025	c.746 others(3): Show c.746G>A	p.Arg others(6): Show p.Arg249His	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1056/2684	746/2061	249/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009059	A A	G G	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0004 a0015c0034t0004	a0015c0034t0004g0055 a0015c0034t0004g0055	1	406	0.0025	c.934 others(3): Show c.934A>G	p.Met others(6): Show p.Met312Val	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1244/2684	934/2061	312/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009078	G G	A A	missense_variant missense_variant	MODERATE	HG02523.hp2 HG02523.hp2	a0022 a0022	a0022c0018 a0022c0018	a0022c0018t0002 a0022c0018t0002	a0022c0018t0002g0200 a0022c0018t0002g0200	1	406	0.0025	c.953 others(3): Show c.953G>A	p.Ser others(6): Show p.Ser318Asn	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1263/2684	953/2061	318/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009233	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp2 NA19043.hp2 HG02055.hp2 NA19043.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0005 a0012c0012t0005	a0012c0012t0005g0204 a0012c0012t0005g0205 a0012c0012t0005g0204 a0012c0012t0005g0205	2	406	0.0049	c.110 others(4): Show c.1108G>A	p.Gly others(6): Show p.Gly370Arg	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1418/2684	1108/2061	370/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009297	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02109.hp1 HG02717.hp2 others(8): Show HG02055.hp2 HG02109.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 NA19030.hp1 NA19043.hp2	a0005 a0008 a0012 a0005 a0008 a0012	a0005c0007 a0008c0010 a0012c0012 a0005c0007 a0008c0010 a0012c0012	a0005c0007t0004 a0008c0010t0004 a0012c0012t0005 a0005c0007t0004 a0008c0010t0004 a0012c0012t0005	a0005c0007t0004g0051 a0005c0007t0004g0202 a0005c0007t0004g0203 others(7): Show a0005c0007t0004g0051 a0005c0007t0004g0202 a0005c0007t0004g0203 a0005c0007t0004g0206 a0005c0007t0004g0209 a0008c0010t0004g0201 a0008c0010t0004g0207 a0008c0010t0004g0208 a0012c0012t0005g0204 a0012c0012t0005g0205	11	406	0.0271	c.117 others(4): Show c.1172C>T	p.Pro others(6): Show p.Pro391Leu	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1482/2684	1172/2061	391/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009302	C C	T T	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0024 a0024	a0024c0021 a0024c0021	a0024c0021t0002 a0024c0021t0002	a0024c0021t0002g0162 a0024c0021t0002g0162	1	406	0.0025	c.117 others(4): Show c.1177C>T	p.Pro others(6): Show p.Pro393Ser	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1487/2684	1177/2061	393/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009354	A A	G G	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0026 a0026	a0026c0023 a0026c0023	a0026c0023t0001 a0026c0023t0001	a0026c0023t0001g0003 a0026c0023t0001g0003	1	406	0.0025	c.122 others(4): Show c.1229A>G	p.Asn others(6): Show p.Asn410Ser	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1539/2684	1229/2061	410/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009452	C C	G G	missense_variant missense_variant	MODERATE	HG00639.hp2 HG02630.hp2 HG02886.hp1 others(1): Show HG00639.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0157 a0007c0008t0001g0175 a0007c0008t0001g0176 others(1): Show a0007c0008t0001g0157 a0007c0008t0001g0175 a0007c0008t0001g0176 a0007c0008t0001g0180	4	406	0.0099	c.132 others(4): Show c.1327C>G	p.Leu others(6): Show p.Leu443Val	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1637/2684	1327/2061	443/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009512	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00423.hp2	a0025 a0025	a0025c0022 a0025c0022	a0025c0022t0001 a0025c0022t0001	a0025c0022t0001g0007 a0025c0022t0001g0007	1	406	0.0025	c.138 others(4): Show c.1387G>A	p.Glu others(6): Show p.Glu463Lys	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1697/2684	1387/2061	463/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009701	G G	A A	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0004 a0013c0032t0004	a0013c0032t0004g0215 a0013c0032t0004g0215	1	406	0.0025	c.157 others(4): Show c.1576G>A	p.Val others(6): Show p.Val526Ile	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	1886/2684	1576/2061	526/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009819	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01123.hp2 HG01168.hp2 others(3): Show HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG02109.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0019 a0006c0005t0001g0054 a0006c0005t0001g0064 others(2): Show a0006c0005t0001g0019 a0006c0005t0001g0054 a0006c0005t0001g0064 a0006c0005t0001g0108 a0006c0005t0001g0109	6	406	0.0148	c.169 others(4): Show c.1694G>A	p.Arg others(6): Show p.Arg565Gln	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	2004/2684	1694/2061	565/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009828	G G	C C	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0023 a0023	a0023c0019 a0023c0019	a0023c0019t0001 a0023c0019t0001	a0023c0019t0001g0008 a0023c0019t0001g0008	1	406	0.0025	c.170 others(4): Show c.1703G>C	p.Arg others(6): Show p.Arg568Pro	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	2013/2684	1703/2061	568/686	chr10	TogoVar
AGAP6_chr10_49983406_50015499	50009959	T T	C C	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0004 a0017c0028t0004	a0017c0028t0004g0187 a0017c0028t0004g0187	1	406	0.0025	c.183 others(4): Show c.1834T>C	p.Cys others(6): Show p.Cys612Arg	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	2144/2684	1834/2061	612/686	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502222	T T	C C	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0000 a0000	a0000c0026 a0000c0026	a0000c0026t0002 a0000c0026t0002	a0000c0026t0002g0167 a0000c0026t0002g0167	1	206	0.0049	c.190 others(4): Show c.1907A>G	p.Asn others(6): Show p.Asn636Ser	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	2019/2387	1907/1977	636/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502343	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02451.hp1 HG03579.hp2 HG01884.hp1 HG02451.hp1 HG03579.hp2	a0000 a0000	a0000c0013 a0000c0014 a0000c0026 a0000c0013 a0000c0014 a0000c0026	a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 a0000c0013t0007 a0000c0014t0001 a0000c0026t0002	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167	3	206	0.0146	c.178 others(4): Show c.1786A>G	p.Thr others(6): Show p.Thr596Ala	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1898/2387	1786/1977	596/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502436	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show HG00735.hp2 HG01361.hp2 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1	a0000 a0002 a0000 a0002	a0000c0026 a0002c0002 a0002c0027 a0000c0026 a0002c0002 a0002c0027	a0000c0026t0002 a0002c0002t0002 a0002c0027t0002 a0000c0026t0002 a0002c0002t0002 a0002c0027t0002	a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 others(7): Show a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168	12	206	0.0583	c.169 others(4): Show c.1693T>C	p.Trp others(6): Show p.Trp565Arg	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1805/2387	1693/1977	565/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502507	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01109.hp1 HG02723.hp1 HG00741.hp1 HG01109.hp1 HG02723.hp1	a0007 a0014 a0007 a0014	a0007c0009 a0014c0016 a0007c0009 a0014c0016	a0007c0009t0002 a0014c0016t0002 a0007c0009t0002 a0014c0016t0002	a0007c0009t0002g0155 a0007c0009t0002g0156 a0014c0016t0002g0161 a0007c0009t0002g0155 a0007c0009t0002g0156 a0014c0016t0002g0161	3	206	0.0146	c.162 others(4): Show c.1622A>G	p.Asn others(6): Show p.Asn541Ser	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1734/2387	1622/1977	541/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502579	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0000 a0000	a0000c0013 a0000c0014 a0000c0013 a0000c0014	a0000c0013t0007 a0000c0014t0001 a0000c0013t0007 a0000c0014t0001	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0013t0007g0142 a0000c0014t0001g0143	2	206	0.0097	c.155 others(4): Show c.1550G>A	p.Arg others(6): Show p.Arg517Gln	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1662/2387	1550/1977	517/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502604	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01361.hp2 HG01884.hp1 others(12): Show HG00735.hp2 HG01361.hp2 HG01884.hp1 HG02451.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp1	a0000 a0002 a0012 a0000 a0002 a0012	a0000c0013 a0000c0014 a0000c0026 others(3): Show a0000c0013 a0000c0014 a0000c0026 a0002c0002 a0002c0027 a0012c0019	a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 others(3): Show a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 a0002c0002t0002 a0002c0027t0002 a0012c0019t0001	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 others(10): Show a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168 a0012c0019t0001g0062	15	206	0.0728	c.152 others(4): Show c.1525T>C	p.Phe others(6): Show p.Phe509Leu	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1637/2387	1525/1977	509/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502609	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0000 a0000	a0000c0013 a0000c0013	a0000c0013t0007 a0000c0013t0007	a0000c0013t0007g0142 a0000c0013t0007g0142	1	206	0.0049	c.152 others(4): Show c.1520G>A	p.Arg others(6): Show p.Arg507His	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1632/2387	1520/1977	507/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502650	G G	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0000 a0000	a0000c0013 a0000c0014 a0000c0013 a0000c0014	a0000c0013t0007 a0000c0014t0001 a0000c0013t0007 a0000c0014t0001	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0013t0007g0142 a0000c0014t0001g0143	2	206	0.0097	c.147 others(4): Show c.1479C>G	p.Asn others(6): Show p.Asn493Lys	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1591/2387	1479/1977	493/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502781	T T	C C	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01361.hp2 HG01884.hp1 others(11): Show HG00735.hp2 HG01361.hp2 HG01884.hp1 HG02451.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1	a0000 a0002 a0000 a0002	a0000c0013 a0000c0014 a0000c0026 others(2): Show a0000c0013 a0000c0014 a0000c0026 a0002c0002 a0002c0027	a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 others(2): Show a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 a0002c0002t0002 a0002c0027t0002	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 others(9): Show a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168	14	206	0.0680	c.134 others(4): Show c.1348A>G	p.Lys others(6): Show p.Lys450Glu	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1460/2387	1348/1977	450/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502782	G G	C C	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0004 a0013c0025t0004	a0013c0025t0004g0164 a0013c0025t0004g0164	1	206	0.0049	c.134 others(4): Show c.1347C>G	p.Cys others(6): Show p.Cys449Trp	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1459/2387	1347/1977	449/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502841	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0002 a0014c0016t0002	a0014c0016t0002g0161 a0014c0016t0002g0161	1	206	0.0049	c.128 others(4): Show c.1288G>A	p.Glu others(6): Show p.Glu430Lys	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1400/2387	1288/1977	430/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47502991	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00741.hp1 HG01109.hp1 others(37): Show HG00735.hp2 HG00741.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA20129.hp1	a0000 a0002 a0003 others(5): Show a0000 a0002 a0003 a0004 a0005 a0007 a0013 a0014	a0000c0013 a0000c0014 a0000c0026 others(12): Show a0000c0013 a0000c0014 a0000c0026 a0002c0002 a0002c0027 a0002c0028 a0003c0004 a0003c0005 a0003c0017 a0003c0018 a0004c0003 a0005c0006 a0007c0009 a0013c0025 a0014c0016	a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 others(12): Show a0000c0013t0007 a0000c0014t0001 a0000c0026t0002 a0002c0002t0002 a0002c0027t0002 a0002c0028t0003 a0003c0004t0003 a0003c0005t0004 a0003c0017t0003 a0003c0018t0004 a0004c0003t0002 a0005c0006t0006 a0007c0009t0002 a0013c0025t0004 a0014c0016t0002	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 others(33): Show a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168 a0002c0028t0003g0176 a0003c0004t0003g0014 a0003c0004t0003g0162 a0003c0004t0003g0163 a0003c0005t0004g0015 a0003c0005t0004g0165 a0003c0005t0004g0166 a0003c0017t0003g0159 a0003c0018t0004g0160 a0004c0003t0002g0147 a0004c0003t0002g0148 a0004c0003t0002g0149 a0004c0003t0002g0150 a0004c0003t0002g0151 a0004c0003t0002g0152 a0004c0003t0002g0153 a0004c0003t0002g0154 a0005c0006t0006g0177 a0005c0006t0006g0178 a0005c0006t0006g0179 a0007c0009t0002g0155 a0007c0009t0002g0156 a0013c0025t0004g0164 a0014c0016t0002g0161	40	206	0.1942	c.113 others(4): Show c.1138G>A	p.Gly others(6): Show p.Gly380Ser	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1250/2387	1138/1977	380/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47503195	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18953.hp1	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0033 a0011c0015t0001g0033	1	206	0.0049	c.934 others(3): Show c.934G>A	p.Val others(6): Show p.Val312Met	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	1046/2387	934/1977	312/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47503383	C C	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0002 a0010c0023t0002	a0010c0023t0002g0157 a0010c0023t0002g0157	1	206	0.0049	c.746 others(3): Show c.746G>T	p.Arg others(6): Show p.Arg249Leu	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	858/2387	746/1977	249/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47503402	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01361.hp2 HG02698.hp1 others(9): Show HG00735.hp2 HG01361.hp2 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp2 HG04199.hp2 NA18522.hp1	a0000 a0002 a0000 a0002	a0000c0026 a0002c0002 a0002c0027 a0000c0026 a0002c0002 a0002c0027	a0000c0026t0002 a0002c0002t0002 a0002c0027t0002 a0000c0026t0002 a0002c0002t0002 a0002c0027t0002	a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 others(7): Show a0000c0026t0002g0167 a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168	12	206	0.0583	c.727 others(3): Show c.727G>A	p.Val others(6): Show p.Val243Ile	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	839/2387	727/1977	243/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47503470	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0000 a0000	a0000c0013 a0000c0014 a0000c0013 a0000c0014	a0000c0013t0007 a0000c0014t0001 a0000c0013t0007 a0000c0014t0001	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0013t0007g0142 a0000c0014t0001g0143	2	206	0.0097	c.659 others(3): Show c.659C>T	p.Pro others(6): Show p.Pro220Leu	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	8/8	771/2387	659/1977	220/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47504200	G G	A A	missense_variant missense_variant	MODERATE	NA18972.hp1 NA18972.hp1	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0001 a0015c0024t0001	a0015c0024t0001g0076 a0015c0024t0001g0076	1	206	0.0049	c.574 others(3): Show c.574C>T	p.His others(6): Show p.His192Tyr	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	7/8	686/2387	574/1977	192/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47510201	A A	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02451.hp1 HG01884.hp1 HG02451.hp1	a0000 a0000	a0000c0013 a0000c0014 a0000c0013 a0000c0014	a0000c0013t0007 a0000c0014t0001 a0000c0013t0007 a0000c0014t0001	a0000c0013t0007g0142 a0000c0014t0001g0143 a0000c0013t0007g0142 a0000c0014t0001g0143	2	206	0.0097	c.467 others(3): Show c.467T>G	p.Ile others(6): Show p.Ile156Ser	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	5/8	579/2387	467/1977	156/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47510267	G G	T T	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0016 a0016	a0016c0012 a0016c0012	a0016c0012t0001 a0016c0012t0001	a0016c0012t0001g0122 a0016c0012t0001g0122	1	206	0.0049	c.401 others(3): Show c.401C>A	p.Ser others(6): Show p.Ser134Tyr	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	5/8	513/2387	401/1977	134/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47520553	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01192.hp2 HG01361.hp2 others(17): Show HG00735.hp2 HG01192.hp2 HG01361.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1 NA19030.hp1 NA20129.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0027 a0002c0028 others(1): Show a0002c0002 a0002c0027 a0002c0028 a0004c0003	a0002c0002t0002 a0002c0027t0002 a0002c0028t0003 others(1): Show a0002c0002t0002 a0002c0027t0002 a0002c0028t0003 a0004c0003t0002	a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 others(15): Show a0002c0002t0002g0004 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0027t0002g0168 a0002c0028t0003g0176 a0004c0003t0002g0147 a0004c0003t0002g0148 a0004c0003t0002g0149 a0004c0003t0002g0150 a0004c0003t0002g0151 a0004c0003t0002g0152 a0004c0003t0002g0153 a0004c0003t0002g0154	20	206	0.0971	c.307 others(3): Show c.307T>C	p.Ser others(6): Show p.Ser103Pro	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	3/8	419/2387	307/1977	103/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47522880	T T	C C	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0000 a0000	a0000c0026 a0000c0026	a0000c0026t0002 a0000c0026t0002	a0000c0026t0002g0167 a0000c0026t0002g0167	1	206	0.0049	c.278 others(3): Show c.278A>G	p.Asn others(5): Show p.Asn93Ser	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	2/8	390/2387	278/1977	93/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47522883	C C	T T	missense_variant missense_variant	MODERATE	HG03041.hp2 HG03041.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0021 a0009c0011t0001g0021	1	206	0.0049	c.275 others(3): Show c.275G>A	p.Arg others(5): Show p.Arg92Lys	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	2/8	387/2387	275/1977	92/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47522888	G G	T T	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0002 a0002c0027t0002	a0002c0027t0002g0168 a0002c0027t0002g0168	1	206	0.0049	c.270 others(3): Show c.270C>A	p.Phe others(5): Show p.Phe90Leu	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	2/8	382/2387	270/1977	90/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47523329	C C	G G	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02602.hp2 NA18987.hp1 HG02572.hp2 HG02602.hp2 NA18987.hp1	a0006 a0017 a0006 a0017	a0006c0008 a0017c0010 a0006c0008 a0017c0010	a0006c0008t0001 a0017c0010t0001 a0006c0008t0001 a0017c0010t0001	a0006c0008t0001g0019 a0006c0008t0001g0020 a0017c0010t0001g0016 a0006c0008t0001g0019 a0006c0008t0001g0020 a0017c0010t0001g0016	3	206	0.0146	c.198 others(3): Show c.198G>C	p.Gln others(5): Show p.Gln66His	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	1/8	310/2387	198/1977	66/658	chr10	TogoVar
AGAP9_chr10_47496854_47528638	47523435	A A	G G	missense_variant missense_variant	MODERATE	HG02602.hp2 NA20805.hp2 NA20905.hp1 HG02602.hp2 NA20805.hp2 NA20905.hp1	a0008 a0017 a0008 a0017	a0008c0007 a0017c0010 a0008c0007 a0017c0010	a0008c0007t0001 a0017c0010t0001 a0008c0007t0001 a0017c0010t0001	a0008c0007t0001g0017 a0008c0007t0001g0018 a0017c0010t0001g0016 a0008c0007t0001g0017 a0008c0007t0001g0018 a0017c0010t0001g0016	3	206	0.0146	c.92T others(2): Show c.92T>C	p.Ile others(5): Show p.Ile31Thr	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	1/8	204/2387	92/1977	31/658	chr10	TogoVar
AGA_chr4_177425774_177447437	177431763	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0138 a0007c0007t0002g0138	1	442	0.0023	c.986 others(3): Show c.986T>C	p.Met others(6): Show p.Met329Thr	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	9/9	1048/2037	986/1041	329/346	chr4	TogoVar
AGA_chr4_177425774_177447437	177431784	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 NA19240.hp1 HG02109.hp1 NA19240.hp1	a0006 a0007 a0006 a0007	a0006c0008 a0007c0007 a0006c0008 a0007c0007	a0006c0008t0002 a0007c0007t0002 a0006c0008t0002 a0007c0007t0002	a0006c0008t0002g0139 a0007c0007t0002g0138 a0006c0008t0002g0139 a0007c0007t0002g0138	2	442	0.0045	c.965 others(3): Show c.965C>T	p.Thr others(6): Show p.Thr322Ile	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	9/9	1027/2037	965/1041	322/346	chr4	TogoVar
AGA_chr4_177425774_177447437	177433252	A A	G G	missense_variant missense_variant	MODERATE	HG03195.hp1 HG03209.hp2 HG03486.hp2 others(1): Show HG03195.hp1 HG03209.hp2 HG03486.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0053 a0003c0003t0001g0118 a0003c0003t0001g0128 a0003c0003t0001g0053 a0003c0003t0001g0118 a0003c0003t0001g0128	4	442	0.0091	c.902 others(3): Show c.902T>C	p.Phe others(6): Show p.Phe301Ser	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	8/9	964/2037	902/1041	301/346	chr4	TogoVar
AGA_chr4_177425774_177447437	177434396	C C	T T	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0124 a0005c0006t0001g0124	1	442	0.0023	c.792 others(3): Show c.792G>A	p.Met others(6): Show p.Met264Ile	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	7/9	854/2037	792/1041	264/346	chr4	TogoVar
AGA_chr4_177425774_177447437	177438806	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(414): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0005 a0001c0009 others(5): Show a0001c0001 a0001c0005 a0001c0009 a0003c0003 a0004c0004 a0005c0006 a0006c0008 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0005t0002 a0001c0009t0001 a0003c0003t0001 a0004c0004t0002 a0005c0006t0001 a0006c0008t0002 a0007c0007t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(144): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0026 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0121 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0105 a0001c0001t0004g0021 a0001c0001t0004g0049 a0001c0001t0004g0062 a0001c0001t0004g0067 a0001c0001t0004g0075 a0001c0001t0005g0033 a0001c0001t0006g0052 a0001c0001t0007g0109 a0001c0001t0008g0108 a0001c0001t0009g0126 a0001c0005t0002g0059 a0001c0009t0001g0151 a0003c0003t0001g0053 a0003c0003t0001g0118 a0003c0003t0001g0128 a0004c0004t0002g0034 a0005c0006t0001g0124 a0006c0008t0002g0139 a0007c0007t0002g0138	417	442	0.9434	c.446 others(3): Show c.446C>G	p.Thr others(6): Show p.Thr149Ser	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	4/9	508/2037	446/1041	149/346	chr4	TogoVar
AGA_chr4_177425774_177447437	177442342	C C	A A	missense_variant missense_variant	MODERATE	HG00733.hp1 HG01099.hp1 HG01167.hp1 HG00733.hp1 HG01099.hp1 HG01167.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0034 a0004c0004t0002g0034	3	442	0.0068	c.34G others(2): Show c.34G>T	p.Val others(5): Show p.Val12Leu	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	1/9	96/2037	34/1041	12/346	chr4	TogoVar

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