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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
ATG7_chr3_11267397_11562665	11282193	G G	A A	splice_region_variant splice_region_variant	LOW	HG02970.hp2 HG03195.hp1 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0290 a0001c0002t0015g0291 a0001c0002t0015g0290 a0001c0002t0015g0291	2	292	0.0069	0	c.-25 others(4): Show c.-256G>A		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	3/21					chr3	TogoVar
ATG7_chr3_11267397_11562665	11340637	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp2 HG01978.hp1 HG01943.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0208 a0001c0001t0001g0209	2	292	0.0069	0	c.890 others(5): Show c.890-8G>T		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	11/20					chr3	TogoVar
ATG7_chr3_11267397_11562665	11340638	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01943.hp2 HG01978.hp1 HG01943.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0208 a0001c0001t0001g0209	2	292	0.0069	0	c.890 others(5): Show c.890-7C>T		ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	11/20					chr3	TogoVar
ATG9A_chr2_219214380_219234636	219224027	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	2	348	0.0058	0	c.126 others(6): Show c.1266-5A>G		ATG9A	ENSG00000198925.12	transcript	ENST00000361242.9	protein_coding	8/15					chr2	TogoVar
ATG9B_chr7_151010151_151029494	151015876	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02257.hp1 HG02258.hp2 others(1): Show HG01884.hp2 HG02257.hp1 HG02258.hp2 HG02886.hp2	a0001 a0017 a0001 a0017	a0001c0001 a0017c0014 a0001c0001 a0017c0014	a0001c0001t0001 a0017c0014t0001 a0001c0001t0001 a0017c0014t0001	a0001c0001t0001g0080 a0001c0001t0001g0119 a0001c0001t0001g0123 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0119 a0001c0001t0001g0123 a0017c0014t0001g0060	4	466	0.0086	0	c.14 others(5): Show c.14+6T>C		ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	13/13					chr7	TogoVar
ATG9B_chr7_151010151_151029494	151016683	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	466	0.0022	0	c.242 others(6): Show c.2423+5G>C		ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	10/13					chr7	TogoVar
ATG9B_chr7_151010151_151029494	151018054	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	466	0.0022	0	c.187 others(6): Show c.1873-4C>G		ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	7/13					chr7	TogoVar
ATG9B_chr7_151010151_151029494	151023438	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18969.hp1 NA18988.hp1 NA18969.hp1 NA18988.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0056 a0003c0004t0001g0056	2	466	0.0043	0	c.659 others(5): Show c.659+7C>T		ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	3/13					chr7	TogoVar
ATG9B_chr7_151010151_151029494	151023445	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0021 a0021	a0021c0046 a0021c0046	a0021c0046t0001 a0021c0046t0001	a0021c0046t0001g0179 a0021c0046t0001g0179	1	466	0.0022	0	c.659 others(3): Show c.659G>A	p.Gly others(6): Show p.Gly220Glu	ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	3/14	730/3423	659/2775	220/924		chr7	TogoVar
ATG9B_chr7_151010151_151029494	151023517	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	466	0.0022	0	c.595 others(5): Show c.595-8G>A		ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	2/13					chr7	TogoVar
ATG9B_chr7_151010151_151029494	151023737	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0072 a0003c0004t0001g0072	1	466	0.0022	0	c.551 others(5): Show c.551-7T>C		ATG9B	ENSG00000181652.20	transcript	ENST00000639579.2	protein_coding	1/13					chr7	TogoVar
ATIC_chr2_215307059_215354764	215319657	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	382	0.0026	0	c.224 others(5): Show c.224-8T>A		ATIC	ENSG00000138363.15	transcript	ENST00000236959.14	protein_coding	3/15					chr2	TogoVar
ATL1_chr14_50555145_50638045	50560303	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	320	0.0031	0	c.34+ others(4): Show c.34+4A>G		ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	1/13					chr14	TogoVar
ATL1_chr14_50555145_50638045	50591078	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG04199.hp1 HG03688.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0066 a0001c0001t0003g0067	2	320	0.0063	0	c.417 others(5): Show c.417+3A>G		ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	3/13					chr14	TogoVar
ATL1_chr14_50555145_50638045	50595639	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(50): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01167.hp1 HG01192.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG01943.hp2 HG02015.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02630.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp1 HG03688.hp1 NA18906.hp1 NA18940.hp2 NA18951.hp1 NA18960.hp1 NA18981.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp2 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0013 a0001c0003 a0002c0013	a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 others(1): Show a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0002c0013t0001	a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0005 others(46): Show a0001c0003t0001g0003 a0001c0003t0001g0004 a0001c0003t0001g0005 a0001c0003t0001g0013 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0106 a0001c0003t0001g0137 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0163 a0001c0003t0001g0166 a0001c0003t0001g0197 a0001c0003t0001g0199 a0001c0003t0001g0202 a0001c0003t0001g0208 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0005g0229 a0001c0003t0007g0089 a0002c0013t0001g0045	53	320	0.1656	0	c.630 others(5): Show c.630+7G>A		ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	6/13					chr14	TogoVar
ATL1_chr14_50555145_50638045	50613252	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02647.hp2 HG03130.hp1 HG02647.hp2 HG03130.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0006t0001g0022 a0001c0006t0001g0023	2	320	0.0063	0	c.631 others(5): Show c.631-7T>A		ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	6/13					chr14	TogoVar
ATL1_chr14_50555145_50638045	50621837	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	320	0.0031	0	c.991 others(5): Show c.991-6T>G		ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	9/13					chr14	TogoVar
ATL2_chr2_38288954_38382273	38309372	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02451.hp2 HG02717.hp2 others(5): Show HG01891.hp1 HG02451.hp2 HG02717.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0101 others(5): Show a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0010g0100	8	236	0.0339	0	c.107 others(6): Show c.1071+7G>A		ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	9/12					chr2	TogoVar
ATL3_chr11_63619087_63676376	63633021	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG00738.hp1 HG02683.hp2 others(8): Show HG00642.hp1 HG00738.hp1 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03130.hp2 HG03654.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0015 a0001c0001t0018 a0001c0001t0004 a0001c0001t0015 a0001c0001t0018	a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 others(8): Show a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0023 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0033 a0001c0001t0015g0022 a0001c0001t0015g0024 a0001c0001t0018g0018	11	242	0.0455	0	c.110 others(6): Show c.1107+5G>A		ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	11/12					chr11	TogoVar
ATM_chr11_108218067_108374102	108223194	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0304 a0001c0001t0032g0304	1	304	0.0033	0	c.-31 others(5): Show c.-31+8C>T		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	1/62					chr11	TogoVar
ATM_chr11_108218067_108374102	108229171	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG02280.hp2 HG01081.hp2 HG02280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0085 a0002c0002t0003g0086	2	304	0.0066	0	c.186 others(5): Show c.186-7C>T		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	3/62					chr11	TogoVar
ATM_chr11_108218067_108374102	108251829	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0060 a0001c0001t0007g0060	1	304	0.0033	0	c.160 others(6): Show c.1608-8T>C		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	10/62					chr11	TogoVar
ATM_chr11_108218067_108374102	108252915	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp2 NA18974.hp2 HG02572.hp2 NA18974.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0032 a0001c0001 a0014c0032	a0001c0001t0029 a0014c0032t0002 a0001c0001t0029 a0014c0032t0002	a0001c0001t0029g0016 a0014c0032t0002g0011 a0001c0001t0029g0016 a0014c0032t0002g0011	2	304	0.0066	0	c.189 others(6): Show c.1898+3A>G		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	12/62					chr11	TogoVar
ATM_chr11_108218067_108374102	108256217	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0273 a0001c0020t0001g0273	1	304	0.0033	0	c.212 others(4): Show c.2127T>C	p.Ile others(6): Show p.Ile709Ile	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	14/63	2277/12915	2127/9171	709/3056		chr11	TogoVar
ATM_chr11_108218067_108374102	108271228	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG01496.hp1 HG01975.hp2 others(18): Show HG00140.hp2 HG01496.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02647.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp2 NA18954.hp1 NA19000.hp2 NA19030.hp1 NA19077.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0020	a0001c0001 a0001c0012 a0002c0005 others(2): Show a0001c0001 a0001c0012 a0002c0005 a0005c0006 a0020c0023	a0001c0001t0001 a0001c0001t0002 a0001c0012t0024 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0024 a0001c0012t0037 a0001c0012t0038 a0002c0005t0003 a0002c0005t0008 a0002c0005t0015 a0005c0006t0030 a0020c0023t0002	a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0245 others(18): Show a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0111 a0001c0012t0024g0300 a0001c0012t0024g0303 a0001c0012t0037g0301 a0001c0012t0038g0302 a0002c0005t0003g0096 a0002c0005t0008g0095 a0002c0005t0008g0097 a0002c0005t0008g0098 a0002c0005t0008g0102 a0002c0005t0008g0103 a0002c0005t0015g0099 a0002c0005t0015g0100 a0002c0005t0015g0101 a0005c0006t0030g0167 a0020c0023t0002g0084	21	304	0.0691	1	c.292 others(7): Show c.2922-8dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	19/62				INFO_REALIGN_3_PRIME	chr11	TogoVar
ATM_chr11_108218067_108374102	108284478	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp2 HG02922.hp2 HG01891.hp2 HG02922.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0022 a0002c0009t0022	a0002c0009t0022g0093 a0002c0009t0022g0094 a0002c0009t0022g0093 a0002c0009t0022g0094	2	304	0.0066	0	c.399 others(6): Show c.3993+5G>T		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	26/62					chr11	TogoVar
ATM_chr11_108218067_108374102	108304667	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193	3	304	0.0099	0	c.549 others(6): Show c.5497-8T>C		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	36/62					chr11	TogoVar
ATM_chr11_108218067_108374102	108332045	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	304	0.0033	0	c.778 others(6): Show c.7788+8G>T		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	52/62					chr11	TogoVar
ATM_chr11_108218067_108374102	108353888	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 NA20129.hp1 HG00099.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0284 a0001c0001t0001g0285	2	304	0.0066	0	c.878 others(6): Show c.8786+8A>C		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	60/62					chr11	TogoVar
ATN1_chr12_6922959_6947321	6934581	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03130.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0110 a0004c0003t0001g0110	1	414	0.0024	0	c.279 others(5): Show c.279+3G>A		ATN1	ENSG00000111676.15	transcript	ENST00000396684.3	protein_coding	4/9					chr12	TogoVar
ATOSA_chr15_52576321_52684388	52611132	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0001 a0002c0020t0001	a0002c0020t0001g0289 a0002c0020t0001g0289	1	362	0.0028	0	c.528 others(3): Show c.528C>T	p.Tyr others(6): Show p.Tyr176Tyr	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	5/13	1190/4726	528/3231	176/1076		chr15	TogoVar
ATOSA_chr15_52576321_52684388	52611575	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00140.hp1 HG01074.hp2 HG01099.hp2 others(24): Show HG00140.hp1 HG01074.hp2 HG01099.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01433.hp1 HG02109.hp2 HG02559.hp1 HG02683.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04204.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0003 a0012 a0003 a0012	a0003c0004 a0012c0021 a0003c0004 a0012c0021	a0003c0004t0002 a0003c0004t0007 a0012c0021t0002 a0003c0004t0002 a0003c0004t0007 a0012c0021t0002	a0003c0004t0002g0006 a0003c0004t0002g0020 a0003c0004t0002g0022 others(23): Show a0003c0004t0002g0006 a0003c0004t0002g0020 a0003c0004t0002g0022 a0003c0004t0002g0075 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0004t0002g0078 a0003c0004t0002g0079 a0003c0004t0002g0080 a0003c0004t0002g0081 a0003c0004t0002g0082 a0003c0004t0002g0083 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0086 a0003c0004t0002g0087 a0003c0004t0002g0088 a0003c0004t0002g0089 a0003c0004t0002g0090 a0003c0004t0002g0091 a0003c0004t0002g0093 a0003c0004t0002g0094 a0003c0004t0002g0096 a0003c0004t0002g0097 a0003c0004t0007g0019 a0012c0021t0002g0092	27	362	0.0746	0	c.404 others(3): Show c.404A>G	p.Gln others(6): Show p.Gln135Arg	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	4/13	1066/4726	404/3231	135/1076		chr15	TogoVar
ATOSA_chr15_52576321_52684388	52677999	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	362	0.0028	0	c.16+ others(4): Show c.16+7G>T		ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12					chr15	TogoVar
ATOSB_chr9_35099117_35120862	35106418	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	432	0.0023	0	c.106 others(6): Show c.1060-8A>G		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	5/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35107375	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01256.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0142 a0011c0019t0001g0142	1	432	0.0023	0	c.894 others(5): Show c.894+6C>A		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	3/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35107376	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp2 HG01256.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0142 a0011c0019t0001g0142	1	432	0.0023	0	c.894 others(5): Show c.894+5G>A		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	3/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35107381	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01256.hp2 HG01256.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0142 a0011c0019t0001g0142	1	432	0.0023	0	c.894 others(3): Show c.894G>A	p.Leu others(6): Show p.Leu298Leu	ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	3/9	1171/2998	894/1617	298/538		chr9	TogoVar
ATOSB_chr9_35099117_35120862	35107382	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01256.hp2 HG01256.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0142 a0011c0019t0001g0142	1	432	0.0023	0	c.893 others(3): Show c.893T>C	p.Leu others(6): Show p.Leu298Ser	ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	3/9	1170/2998	893/1617	298/538		chr9	TogoVar
ATOSB_chr9_35099117_35120862	35107383	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01256.hp2 HG01256.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0142 a0011c0019t0001g0142	1	432	0.0023	0	c.892 others(3): Show c.892T>A	p.Leu others(6): Show p.Leu298Met	ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	3/9	1169/2998	892/1617	298/538		chr9	TogoVar
ATOSB_chr9_35099117_35120862	35115798	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	432	0.0023	0	c.-22 others(6): Show c.-220+7G>A		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	1/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35115801	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	432	0.0023	0	c.-22 others(6): Show c.-220+4T>C		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	1/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35115802	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	432	0.0023	0	c.-22 others(6): Show c.-220+3G>A		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	1/8					chr9	TogoVar
ATOSB_chr9_35099117_35120862	35115805	C C	T T	splice_region_variant splice_region_variant	LOW	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0160 a0001c0001t0012g0160	1	432	0.0023	0	c.-22 others(4): Show c.-220G>A		ATOSB	ENSG00000005238.20	transcript	ENST00000322813.10	protein_coding	1/9					chr9	TogoVar
ATP10A_chr15_25673712_25868327	25714241	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0045 a0045	a0045c0034 a0045c0034	a0045c0034t0001 a0045c0034t0001	a0045c0034t0001g0044 a0045c0034t0001g0044	1	300	0.0033	0	c.177 others(4): Show c.1777G>A	p.Val others(6): Show p.Val593Met	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	10/21	2008/5360	1777/4500	593/1499		chr15	TogoVar
ATP10B_chr5_160558120_160857211	160589701	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02895.hp1 HG03471.hp1 others(1): Show HG02717.hp1 HG02895.hp1 HG03471.hp1 NA18986.hp2	a0001 a0006 a0001 a0006	a0001c0005 a0006c0016 a0001c0005 a0006c0016	a0001c0005t0012 a0006c0016t0012 a0001c0005t0012 a0006c0016t0012	a0001c0005t0012g0002 a0001c0005t0012g0006 a0006c0016t0012g0164 others(1): Show a0001c0005t0012g0002 a0001c0005t0012g0006 a0006c0016t0012g0164 a0006c0016t0012g0188	4	236	0.0170	0	c.364 others(6): Show c.3646-5T>C		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	23/25					chr5	TogoVar
ATP10B_chr5_160558120_160857211	160649263	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 NA20129.hp2 HG02559.hp1 NA20129.hp2	a0002 a0020 a0002 a0020	a0002c0013 a0020c0030 a0002c0013 a0020c0030	a0002c0013t0042 a0020c0030t0030 a0002c0013t0042 a0020c0030t0030	a0002c0013t0042g0179 a0020c0030t0030g0217 a0002c0013t0042g0179 a0020c0030t0030g0217	2	236	0.0085	0	c.676 others(5): Show c.676-7C>T		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	7/25					chr5	TogoVar
ATP10B_chr5_160558120_160857211	160785809	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00558.hp1 HG00558.hp2 others(117): Show HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18982.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0013 a0015 a0017 a0021 a0022 a0024 a0025	a0001c0001 a0001c0002 a0001c0005 others(24): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0028 a0001c0029 a0002c0003 a0002c0004 a0002c0010 a0002c0013 a0002c0037 a0003c0007 a0004c0009 a0006c0016 a0008c0017 a0009c0018 a0010c0014 a0011c0019 a0013c0022 a0015c0024 a0017c0027 a0021c0034 a0022c0032 a0024c0020 a0025c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0009 a0001c0001t0023 a0001c0001t0029 a0001c0001t0049 a0001c0001t0051 a0001c0002t0006 a0001c0002t0007 a0001c0002t0011 a0001c0002t0018 a0001c0002t0044 a0001c0002t0053 a0001c0005t0014 a0001c0006t0003 a0001c0006t0020 a0001c0006t0024 a0001c0008t0019 a0001c0008t0045 a0001c0011t0041 a0001c0028t0008 a0001c0029t0047 a0002c0003t0005 a0002c0003t0006 a0002c0004t0004 a0002c0004t0008 a0002c0010t0002 a0002c0010t0008 a0002c0013t0042 a0002c0013t0043 a0002c0037t0006 a0003c0007t0013 a0004c0009t0003 a0006c0016t0012 a0008c0017t0040 a0009c0018t0021 a0010c0014t0050 a0011c0019t0048 a0013c0022t0046 a0015c0024t0008 a0017c0027t0003 a0021c0034t0004 a0022c0032t0011 a0024c0020t0009 a0025c0038t0022	a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0065 others(117): Show a0001c0001t0001g0038 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0137 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0182 a0001c0001t0001g0230 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0216 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0071 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0160 a0001c0001t0003g0191 a0001c0001t0008g0135 a0001c0001t0008g0168 a0001c0001t0008g0173 a0001c0001t0009g0007 a0001c0001t0009g0031 a0001c0001t0009g0040 a0001c0001t0009g0080 a0001c0001t0009g0098 a0001c0001t0009g0115 a0001c0001t0009g0208 a0001c0001t0023g0027 a0001c0001t0029g0139 a0001c0001t0049g0132 a0001c0001t0051g0227 a0001c0002t0006g0068 a0001c0002t0006g0218 a0001c0002t0007g0167 a0001c0002t0011g0033 a0001c0002t0011g0084 a0001c0002t0011g0129 a0001c0002t0011g0144 a0001c0002t0011g0145 a0001c0002t0011g0226 a0001c0002t0018g0085 a0001c0002t0018g0161 a0001c0002t0044g0039 a0001c0002t0053g0236 a0001c0005t0014g0022 a0001c0005t0014g0042 a0001c0005t0014g0082 a0001c0006t0003g0104 a0001c0006t0003g0105 a0001c0006t0020g0184 a0001c0006t0024g0109 a0001c0008t0019g0030 a0001c0008t0019g0087 a0001c0008t0045g0026 a0001c0011t0041g0001 a0001c0028t0008g0029 a0001c0029t0047g0219 a0002c0003t0005g0063 a0002c0003t0006g0037 a0002c0003t0006g0048 a0002c0003t0006g0054 a0002c0003t0006g0070 a0002c0003t0006g0097 a0002c0003t0006g0099 a0002c0003t0006g0100 a0002c0003t0006g0183 a0002c0003t0006g0220 a0002c0004t0004g0204 a0002c0004t0004g0231 a0002c0004t0008g0049 a0002c0004t0008g0050 a0002c0004t0008g0086 a0002c0004t0008g0096 a0002c0004t0008g0221 a0002c0010t0002g0200 a0002c0010t0008g0014 a0002c0013t0042g0179 a0002c0013t0043g0181 a0002c0037t0006g0015 a0003c0007t0013g0189 a0003c0007t0013g0197 a0003c0007t0013g0222 a0004c0009t0003g0053 a0006c0016t0012g0164 a0008c0017t0040g0034 a0009c0018t0021g0205 a0010c0014t0050g0106 a0011c0019t0048g0113 a0013c0022t0046g0056 a0015c0024t0008g0178 a0017c0027t0003g0043 a0021c0034t0004g0055 a0022c0032t0011g0036 a0024c0020t0009g0094 a0025c0038t0022g0133	120	236	0.5085	0	c.-57 others(6): Show c.-575-6G>A		ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	1/25					chr5	TogoVar
ATP10D_chr4_47480275_47598486	47512836	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	332	0.0030	0	c.290 others(5): Show c.290+6G>A		ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	2/22					chr4	TogoVar
ATP10D_chr4_47480275_47598486	47536033	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0039 a0039	a0039c0051 a0039c0051	a0039c0051t0006 a0039c0051t0006	a0039c0051t0006g0005 a0039c0051t0006g0005	1	332	0.0030	0	c.101 others(4): Show c.1015G>C	p.Gly others(6): Show p.Gly339Arg	ATP10D	ENSG00000145246.14	transcript	ENST00000273859.8	protein_coding	7/23	1297/6668	1015/4281	339/1426		chr4	TogoVar
ATP11A_chr13_112685038_112892168	112824338	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG00558.hp1 HG01099.hp2 others(13): Show HG00438.hp1 HG00558.hp1 HG01099.hp2 HG02055.hp1 HG02074.hp2 HG02280.hp1 HG02647.hp1 HG02976.hp1 HG03225.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 NA18969.hp2 NA18973.hp2 NA19081.hp2 NA19084.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0001 a0001c0002 a0001c0013 others(4): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0003c0007 a0005c0018 a0011c0041	a0001c0001t0019 a0001c0001t0054 a0001c0002t0002 others(8): Show a0001c0001t0019 a0001c0001t0054 a0001c0002t0002 a0001c0002t0007 a0001c0002t0018 a0001c0013t0004 a0001c0014t0003 a0001c0014t0043 a0003c0007t0011 a0005c0018t0001 a0011c0041t0001	a0001c0001t0019g0142 a0001c0001t0054g0008 a0001c0002t0002g0021 others(13): Show a0001c0001t0019g0142 a0001c0001t0054g0008 a0001c0002t0002g0021 a0001c0002t0007g0110 a0001c0002t0007g0253 a0001c0002t0018g0005 a0001c0002t0018g0189 a0001c0013t0004g0035 a0001c0013t0004g0083 a0001c0013t0004g0084 a0001c0014t0003g0178 a0001c0014t0043g0056 a0003c0007t0011g0025 a0005c0018t0001g0009 a0005c0018t0001g0168 a0011c0041t0001g0169	16	254	0.0630	0	c.791 others(5): Show c.791-6C>T		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	9/29					chr13	TogoVar

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