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	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	chr	external
AARS1_chr16_70247298_70294506	70255649	A A	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0195 a0001c0002t0001g0195	1	362	0.0028	0	c.228 others(7): Show c.2286+79T>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70255661	A A	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	362	0.0028	0	c.228 others(7): Show c.2286+67T>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	16/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70255988	C C	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03704.hp2 HG03669.hp1 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0001 a0001c0019t0001 a0001c0002t0001 a0001c0019t0001	a0001c0002t0001g0234 a0001c0019t0001g0206 a0001c0002t0001g0234 a0001c0019t0001g0206	2	362	0.0055	0	c.217 others(8): Show c.2178-152G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256452	C C	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02486.hp1 others(19): Show HG00738.hp1 HG01243.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(19): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0124	22	362	0.0608	0	c.217 others(8): Show c.2178-616G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256459	A A	T T	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	362	0.0028	0	c.217 others(8): Show c.2178-623T>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256678	C C	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG03486.hp2 HG02723.hp2 HG02818.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153	3	362	0.0083	0	c.217 others(8): Show c.2178-842G>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256762	G G	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	362	0.0028	0	c.217 others(8): Show c.2178-926C>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256792	C C	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 others(22): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	25	362	0.0691	0	c.217 others(8): Show c.2178-956G>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256800	G G	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02148.hp2 NA18747.hp1 HG01261.hp2 HG02148.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0083 a0001c0007t0001g0070 a0001c0007t0001g0092 a0001c0001t0001g0083 a0001c0007t0001g0070 a0001c0007t0001g0092	3	362	0.0083	0	c.217 others(8): Show c.2178-964C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256837	G G	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	362	0.0028	0	c.217 others(9): Show c.2178-1001C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70256860	A A	G G	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	362	0.0028	0	c.217 others(9): Show c.2178-1024T>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257176	G G	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0354 a0002c0004t0001g0354	1	362	0.0028	0	c.217 others(8): Show c.2177+857C>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257243	C C	CA CA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02723.hp1 others(10): Show HG02109.hp2 HG02451.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03486.hp1 NA18906.hp2 NA18978.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0004 a0005c0009 a0001c0003 a0002c0004 a0005c0009	a0001c0003t0001 a0002c0004t0001 a0005c0009t0001 a0001c0003t0001 a0002c0004t0001 a0005c0009t0001	a0001c0003t0001g0215 a0002c0004t0001g0335 a0002c0004t0001g0337 others(10): Show a0001c0003t0001g0215 a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0005c0009t0001g0336	13	362	0.0359	1	c.217 others(9): Show c.2177+789dupT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257255	A A	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0359 a0002c0004t0001g0359	1	362	0.0028	0	c.217 others(8): Show c.2177+778T>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257434	A A	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	362	0.0028	0	c.217 others(8): Show c.2177+599T>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257463	G G	A A	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02735.hp2 HG02698.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0321 a0001c0003t0001g0284 a0001c0003t0001g0321	2	362	0.0055	0	c.217 others(8): Show c.2177+570C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257631	C C	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02486.hp2 others(2): Show HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0004g0149 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0004g0149 a0001c0002t0004g0150	5	362	0.0138	0	c.217 others(8): Show c.2177+402G>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257832	C C	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	362	0.0028	0	c.217 others(8): Show c.2177+201G>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257903	T T	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02717.hp1 HG02257.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0310 a0001c0001t0002g0243 a0001c0001t0002g0310	2	362	0.0055	0	c.217 others(8): Show c.2177+130A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257913	C C	T T	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0287 a0001c0002t0001g0287	1	362	0.0028	0	c.217 others(8): Show c.2177+120G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70257989	T T	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18988.hp2 NA18971.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0289 a0001c0002t0001g0236 a0001c0002t0001g0289	2	362	0.0055	0	c.217 others(7): Show c.2177+44A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	15/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258221	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0284	1	362	0.0028	0	c.199 others(6): Show c.1993-4G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258611	G G	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG03486.hp2 HG02723.hp2 HG02818.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153	3	362	0.0083	0	c.199 others(8): Show c.1992+369C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258629	A A	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0279 a0001c0002t0001g0279	1	362	0.0028	0	c.199 others(8): Show c.1992+351T>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258791	G G	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02486.hp2 others(2): Show HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0004g0149 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0004g0149 a0001c0002t0004g0150	5	362	0.0138	0	c.199 others(8): Show c.1992+189C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258798	GC GC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02486.hp2 others(2): Show HG02109.hp1 HG02451.hp1 HG02486.hp2 HG02717.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0004g0149 others(1): Show a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0004g0149 a0001c0002t0004g0150	5	362	0.0138	-1	c.199 others(9): Show c.1992+181delG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258841	T T	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(320): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.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 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.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 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0007 others(13): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0013 a0001c0016 a0001c0019 a0002c0004 a0003c0005 a0005c0009 a0006c0018 a0007c0015 a0008c0011 a0009c0017 a0010c0014 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0007t0001 a0001c0010t0001 a0001c0013t0001 a0001c0016t0001 a0001c0019t0001 a0002c0004t0001 a0003c0005t0001 a0005c0009t0001 a0006c0018t0001 a0007c0015t0001 a0008c0011t0001 a0009c0017t0001 a0010c0014t0001 a0011c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(318): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 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 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0243 a0001c0001t0002g0264 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0330 a0001c0001t0006g0054 a0001c0001t0007g0334 a0001c0001t0008g0261 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0148 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0319 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0001g0360 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0004g0149 a0001c0002t0004g0150 a0001c0002t0005g0293 a0001c0007t0001g0070 a0001c0007t0001g0092 a0001c0010t0001g0187 a0001c0013t0001g0086 a0001c0016t0001g0097 a0001c0019t0001g0206 a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0320 a0005c0009t0001g0336 a0006c0018t0001g0016 a0007c0015t0001g0009 a0008c0011t0001g0203 a0009c0017t0001g0026 a0010c0014t0001g0110 a0011c0008t0001g0159	323	362	0.8923	0	c.199 others(8): Show c.1992+139A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258895	CAG CAG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(86): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02559.hp1 HG02735.hp1 HG02738.hp1 HG02886.hp1 HG03490.hp2 HG03704.hp1 HG03710.hp2 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19003.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19090.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0013 a0001c0016 a0010c0014	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0007t0001 a0001c0013t0001 a0001c0016t0001 a0010c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0038 others(86): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0166 a0001c0001t0007g0334 a0001c0002t0001g0185 a0001c0007t0001g0070 a0001c0007t0001g0092 a0001c0013t0001g0086 a0001c0016t0001g0097 a0010c0014t0001g0110	89	362	0.2459	-2	c.199 others(17): Show c.1992+83_1992+84delCT	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70258941	G G	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	362	0.0028	0	c.199 others(7): Show c.1992+39C>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	14/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259305	G G	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01261.hp1 HG01256.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0194 a0001c0002t0001g0290 a0001c0002t0001g0194 a0001c0002t0001g0290	2	362	0.0055	0	c.178 others(8): Show c.1786-119C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259544	G G	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0324 a0001c0002t0003g0324	1	362	0.0028	0	c.178 others(8): Show c.1786-358C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259544	G G	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02647.hp2 others(7): Show HG02258.hp2 HG02559.hp2 HG02647.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 others(7): Show a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358	10	362	0.0276	0	c.178 others(8): Show c.1786-358C>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259625	G G	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	362	0.0028	0	c.178 others(8): Show c.1786-439C>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259631	C C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	362	0.0028	0	c.178 others(8): Show c.1786-445G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259659	T T	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01069.hp1 others(39): Show HG00597.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02976.hp2 HG03098.hp1 HG03710.hp1 HG04184.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp1 NA18954.hp2 NA18960.hp2 NA18969.hp1 NA18971.hp1 NA18980.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19010.hp2 NA19057.hp1 NA19060.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19082.hp2 NA19090.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0163 a0001c0002t0001g0175 a0001c0002t0001g0178 others(39): Show a0001c0002t0001g0163 a0001c0002t0001g0175 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0216 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0245 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0259 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0286 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0304 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0314 a0001c0002t0001g0319 a0001c0002t0001g0327 a0001c0002t0001g0360 a0001c0002t0005g0293	42	362	0.1160	0	c.178 others(8): Show c.1786-473A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259770	T T	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	362	0.0028	0	c.178 others(8): Show c.1786-584A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70259778	G G	GT GT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01433.hp2 HG02015.hp1 others(40): Show HG01261.hp1 HG01433.hp2 HG02015.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 HG03927.hp1 NA18906.hp1 NA18906.hp2 NA18949.hp2 NA18960.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18999.hp1 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19063.hp1 NA19063.hp2 NA19082.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0005c0009	a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0004t0001 a0005c0009t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 others(40): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0002t0001g0225 a0001c0002t0001g0290 a0001c0002t0001g0302 a0001c0002t0001g0360 a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	43	362	0.1188	1	c.178 others(9): Show c.1786-593dupA	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260019	G G	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp2 HG01256.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0217 a0001c0002t0001g0184 a0001c0002t0001g0217	2	362	0.0055	0	c.178 others(8): Show c.1786-833C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260023	C C	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 others(22): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	25	362	0.0691	0	c.178 others(8): Show c.1786-837G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260035	G G	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	362	0.0028	0	c.178 others(8): Show c.1786-849C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260190	C C	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01978.hp2 HG02258.hp1 others(1): Show HG00323.hp2 HG01978.hp2 HG02258.hp1 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0228 a0001c0002t0001g0252 others(1): Show a0001c0002t0001g0222 a0001c0002t0001g0228 a0001c0002t0001g0252 a0001c0002t0001g0325	4	362	0.0111	0	c.178 others(8): Show c.1785+854G>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260571	T T	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02055.hp2 HG02109.hp1 others(30): Show HG01433.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0004 a0005c0009 a0001c0002 a0002c0004 a0005c0009	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0002c0004t0001 a0005c0009t0001	a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0003g0322 others(29): Show a0001c0002t0001g0001 a0001c0002t0001g0148 a0001c0002t0003g0322 a0001c0002t0003g0323 a0001c0002t0003g0324 a0001c0002t0004g0149 a0001c0002t0004g0150 a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	33	362	0.0912	0	c.178 others(8): Show c.1785+473A>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260614	C C	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0232	1	362	0.0028	0	c.178 others(8): Show c.1785+430G>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260640	A A	ACAACGT ACAACGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp2 HG02258.hp2 others(22): Show HG01433.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0009 a0002c0004 a0005c0009	a0002c0004t0001 a0005c0009t0001 a0002c0004t0001 a0005c0009t0001	a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 others(22): Show a0002c0004t0001g0335 a0002c0004t0001g0337 a0002c0004t0001g0338 a0002c0004t0001g0339 a0002c0004t0001g0340 a0002c0004t0001g0341 a0002c0004t0001g0342 a0002c0004t0001g0343 a0002c0004t0001g0344 a0002c0004t0001g0345 a0002c0004t0001g0346 a0002c0004t0001g0347 a0002c0004t0001g0348 a0002c0004t0001g0349 a0002c0004t0001g0350 a0002c0004t0001g0351 a0002c0004t0001g0352 a0002c0004t0001g0353 a0002c0004t0001g0354 a0002c0004t0001g0355 a0002c0004t0001g0356 a0002c0004t0001g0357 a0002c0004t0001g0358 a0002c0004t0001g0359 a0005c0009t0001g0336	25	362	0.0691	6	c.178 others(23): Show c.1785+403_1785+404insACGTTG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260719	G G	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01361.hp2 HG01256.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0217 a0001c0002t0001g0184 a0001c0002t0001g0217	2	362	0.0055	0	c.178 others(8): Show c.1785+325C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260722	G G	C C	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	362	0.0028	0	c.178 others(8): Show c.1785+322C>G	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260751	C C	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG03486.hp2 HG02723.hp2 HG02818.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153	3	362	0.0083	0	c.178 others(8): Show c.1785+293G>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260751	C C	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	362	0.0028	0	c.178 others(8): Show c.1785+293G>A	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70260958	G G	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	362	0.0028	0	c.178 others(7): Show c.1785+86C>T	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	13/20	chr16	TogoVar
AARS1_chr16_70247298_70294506	70261181	C C	G G	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG03486.hp2 others(1): Show HG02723.hp2 HG02818.hp2 HG03486.hp2 HG06807.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 others(1): Show a0003c0005t0001g0151 a0003c0005t0001g0152 a0003c0005t0001g0153 a0003c0005t0001g0320	4	362	0.0111	0	c.167 others(7): Show c.1672-24G>C	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	12/20	chr16	TogoVar

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