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	distance	status	chr	external
ATP6V0E1_chr5_172978771_173040445	173014159	TTAAAAAA others(5): Show TTAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	292	0.0034	-12	c.153 others(29): Show c.153-6078_153-6067delTAAAAAAAAAAA	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	2/3			chr5	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	GAGATATA others(5): Show GAGATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18951.hp1 NA18967.hp2 others(2): Show HG02572.hp1 NA18951.hp1 NA18967.hp2 NA19004.hp2 NA19056.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0002c0018	a0001c0001t0006 a0001c0002t0001 a0002c0008t0002 others(1): Show a0001c0001t0006 a0001c0002t0001 a0002c0008t0002 a0002c0018t0002	a0001c0001t0006g0408 a0001c0002t0001g0194 a0002c0008t0002g0401 others(2): Show a0001c0001t0006g0408 a0001c0002t0001g0194 a0002c0008t0002g0401 a0002c0008t0002g0403 a0002c0018t0002g0402	5	440	0.0114	-12	c.174 others(29): Show c.174+1988_174+1999delGATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10741892	CTCCTTCC others(5): Show CTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03239.hp2 HG00408.hp2 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0186 a0002c0002t0002g0124 a0001c0001t0002g0186 a0002c0002t0002g0124	2	354	0.0057	-12	c.198 others(31): Show c.198-12061_198-12050delTTCCTTCCTTCC	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10757003	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01175.hp1 HG00639.hp1 HG01175.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0002 a0002c0009t0022 a0001c0001t0002 a0002c0009t0022	a0001c0001t0002g0257 a0002c0009t0022g0155 a0001c0001t0002g0257 a0002c0009t0022g0155	2	354	0.0057	-12	c.283 others(29): Show c.283+2955_283+2966delTTTTTTTTTTTT	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10782829	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp1 HG03098.hp1 others(4): Show HG02559.hp1 HG02723.hp1 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03579.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0018 a0001c0001 a0002c0002 a0002c0018	a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 others(3): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0026 a0002c0002t0008 a0002c0018t0013	a0001c0001t0008g0245 a0001c0001t0008g0259 a0001c0001t0013g0075 others(4): Show a0001c0001t0008g0245 a0001c0001t0008g0259 a0001c0001t0013g0075 a0001c0001t0016g0220 a0001c0001t0026g0100 a0002c0002t0008g0234 a0002c0018t0013g0217	7	354	0.0198	-12	c.119 others(29): Show c.1195-322_1195-311delAAAAAAAAAAAA	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1D_chr14_67332872_67364804	67342181	AAAATAAA others(5): Show AAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp1 HG01167.hp1 others(2): Show HG01081.hp2 HG01106.hp1 HG01167.hp1 HG02055.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0017 a0001c0001t0001g0155 a0001c0001t0001g0162	5	348	0.0144	-12	c.523 others(29): Show c.523+1179_523+1190delATTTATTTATTT	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	7/8			chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17616034	AAAACAAA others(5): Show AAAACAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0228 a0001c0001t0002g0229	2	370	0.0054	-12	c.100 others(29): Show c.100-2726_100-2715delGTTTGTTTGTTT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	2/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631662	GTGTGTGT others(5): Show GTGTGTGTGTATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02809.hp2 NA18972.hp2 HG01884.hp2 HG02809.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0241 a0001c0001t0004g0216 a0001c0001t0004g0222 a0001c0001t0003g0241 a0001c0001t0004g0216 a0001c0001t0004g0222	3	370	0.0081	-12	c.-30 others(23): Show c.-3039_-3028delTATACACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2914		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631664	GTGTGTGT others(5): Show GTGTGTGTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	370	0.0027	-12	c.-30 others(23): Show c.-3041_-3030delTATATACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2916		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	GTATATAT others(5): Show GTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	370	0.0027	-12	c.-30 others(23): Show c.-3047_-3036delTATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03486.hp1 others(1): Show HG02622.hp1 HG02630.hp1 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0009 a0001c0001t0002 a0001c0001t0003 a0001c0002t0009	a0001c0001t0002g0023 a0001c0001t0003g0196 a0001c0001t0003g0203 others(1): Show a0001c0001t0002g0023 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0002t0009g0204	4	370	0.0108	-12	c.-30 others(23): Show c.-3083_-3072delAAAAAAAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46509517	AAAACAAA others(5): Show AAAACAAACAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	410	0.0024	-12	c.25 others(23): Show c.2502_*2513delGTTTGTTTGTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		2329		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46510477	AAAAAAAA others(5): Show AAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	410	0.0024	-12	c.15 others(23): Show c.1542_*1553delCTTTTTTTTTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		1369		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp1 HG02976.hp2 others(1): Show HG02572.hp2 HG02886.hp1 HG02976.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0005g0137 others(1): Show a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0005g0137 a0001c0001t0005g0147	4	410	0.0098	-12	c.-10 others(31): Show c.-101-5958_-101-5947delCACACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46533203	GTAGATAG others(5): Show GTAGATAGATAGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01515.hp1 HG01884.hp1 others(11): Show HG00140.hp1 HG01515.hp1 HG01884.hp1 HG02040.hp1 HG02280.hp1 HG02630.hp2 HG02886.hp1 HG02897.hp1 HG03209.hp2 HG03540.hp2 HG03831.hp2 NA18522.hp2 NA18612.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0290 a0001c0001t0002g0289 a0001c0001t0003g0098 others(11): Show a0001c0001t0001g0290 a0001c0001t0002g0289 a0001c0001t0003g0098 a0001c0001t0003g0138 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0188 a0001c0001t0006g0059	14	410	0.0342	-12	c.-10 others(31): Show c.-102+2598_-102+2609delTCTATCTATCTA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46540613	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03471.hp2 HG03491.hp2 others(1): Show HG03453.hp2 HG03471.hp2 HG03491.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0203 a0001c0001t0002g0284 a0001c0001t0002g0285 others(1): Show a0001c0001t0002g0203 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0008g0043	4	410	0.0098	-12	c.-31 others(29): Show c.-310+765_-310+776delAAAAAAAAAAAA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546464	ATATATAT others(5): Show ATATATATATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 NA18942.hp2 others(1): Show HG01516.hp2 HG01517.hp2 NA18942.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0003g0002 a0001c0001t0003g0010 a0001c0001t0001g0099 a0001c0001t0003g0002 a0001c0001t0003g0010	4	410	0.0098	-12	c.-46 others(23): Show c.-4633_-4622delCACATATATATA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3888		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546507	TATATGTA others(5): Show TATATGTATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0293 a0001c0008t0002g0292 a0001c0001t0001g0293 a0001c0008t0002g0292	2	410	0.0049	-12	c.-46 others(23): Show c.-4676_-4665delGTATATACATAT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3931		chr2	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128861823	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02647.hp1 others(3): Show HG02451.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp2 NA19043.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0008 a0003c0004t0008 a0001c0001t0008 a0003c0004t0008	a0001c0001t0008g0011 a0003c0004t0008g0011 a0001c0001t0008g0011 a0003c0004t0008g0011	6	442	0.0136	-12	c.-45 others(23): Show c.-4586_-4575delTTTTTTTTTTTT	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		4506		chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128861823	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02647.hp2 others(3): Show HG02451.hp2 HG02630.hp1 HG02647.hp2 HG02809.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0037 a0001c0001t0001g0007 a0001c0001t0001g0037	6	442	0.0136	-12	c.-10 others(23): Show c.-1081_-1070delTTTTTTTTTTTT	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		1032		chr7	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03704.hp1 HG02027.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0215 a0001c0001t0001g0065 a0001c0001t0001g0215	2	286	0.0070	-12	c.127 others(29): Show c.1277+858_1277+869delATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755734	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	286	0.0035	-12	c.127 others(29): Show c.1277+809_1277+820delAATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755736	ATATATAT others(5): Show ATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA19088.hp1 HG02523.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0186 a0001c0001t0001g0047 a0001c0001t0001g0186	2	286	0.0070	-12	c.127 others(29): Show c.1277+807_1277+818delAAAATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755738	ATATATAT others(5): Show ATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	286	0.0035	-12	c.127 others(29): Show c.1277+805_1277+816delAAAAAATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02572.hp1 HG02886.hp1 others(2): Show HG01993.hp1 HG02572.hp1 HG02886.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0157 others(2): Show a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0157 a0001c0001t0002g0257 a0001c0001t0002g0258	5	286	0.0175	-12	c.307 others(29): Show c.307-2029_307-2018delATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77948059	ATATTTAT others(5): Show ATATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0198 a0001c0001t0027g0198	1	233	0.0043	-12	c.-21 others(31): Show c.-21-23529_-21-23518delTATTTATTTATT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77948092	TATTTATT others(5): Show TATTTATTTATTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0082	1	233	0.0043	-12	c.-21 others(31): Show c.-21-23525_-21-23514delTATTTATTCATT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77956726	CCTTTCTT others(5): Show CCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01943.hp1 NA18952.hp1 others(1): Show HG01496.hp2 HG01943.hp1 NA18952.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0002 a0002c0002t0003 a0001c0001t0008 a0002c0002t0002 a0002c0002t0003	a0001c0001t0008g0121 a0002c0002t0002g0045 a0002c0002t0003g0063 others(1): Show a0001c0001t0008g0121 a0002c0002t0002g0045 a0002c0002t0003g0063 a0002c0002t0003g0066	4	233	0.0172	-12	c.-21 others(31): Show c.-21-14844_-21-14833delTTCTTTCTTTCT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78027993	GTATTTAT others(5): Show GTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	233	0.0043	-12	c.291 others(31): Show c.2917-1223_2917-1212delATTTATTTATTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8A1_chr4_42403373_42662105	42466031	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00621.hp2 others(73): Show HG00099.hp1 HG00438.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03239.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18978.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp2 NA18990.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0006 a0004c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0002t0004 a0001c0002t0005 a0001c0003t0005 a0001c0004t0004 a0001c0004t0010 a0003c0006t0001 a0003c0006t0005 a0004c0011t0005	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(73): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0004g0076 a0001c0001t0005g0186 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0249 a0001c0001t0005g0256 a0001c0001t0005g0265 a0001c0001t0005g0282 a0001c0001t0005g0309 a0001c0001t0008g0017 a0001c0001t0010g0291 a0001c0001t0012g0289 a0001c0001t0012g0290 a0001c0001t0012g0302 a0001c0001t0012g0303 a0001c0001t0012g0308 a0001c0001t0027g0023 a0001c0001t0028g0056 a0001c0001t0030g0126 a0001c0002t0004g0018 a0001c0002t0004g0030 a0001c0002t0004g0109 a0001c0002t0004g0131 a0001c0002t0005g0189 a0001c0003t0005g0207 a0001c0003t0005g0218 a0001c0003t0005g0227 a0001c0003t0005g0284 a0001c0004t0004g0140 a0001c0004t0010g0285 a0003c0006t0001g0159 a0003c0006t0001g0160 a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0229 a0004c0011t0005g0228	76	310	0.2452	-12	c.232 others(29): Show c.2325-967_2325-956delTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555085	GTATCTAT others(5): Show GTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp1 others(12): Show HG00099.hp2 HG00438.hp2 HG00558.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG03490.hp1 NA18747.hp2 NA18956.hp1 NA18970.hp1 NA18975.hp1 NA18980.hp2 NA19084.hp1 NA20805.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0030 a0003c0006t0001 a0003c0006t0005	a0001c0001t0001g0127 a0001c0001t0001g0155 a0001c0001t0001g0158 others(12): Show a0001c0001t0001g0127 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0002g0147 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0215 a0001c0001t0005g0247 a0001c0001t0009g0216 a0001c0001t0030g0126 a0003c0006t0001g0160 a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0229	15	310	0.0484	-12	c.141 others(29): Show c.1413+871_1413+882delGATAGATAGATA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555130	TATCTATC others(5): Show TATCTATCTAATC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG03942.hp2 HG02970.hp2 HG03041.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012	a0001c0001t0009g0205 a0001c0001t0010g0291 a0001c0001t0012g0289 a0001c0001t0009g0205 a0001c0001t0010g0291 a0001c0001t0012g0289	3	310	0.0097	-12	c.141 others(29): Show c.1413+826_1413+837delGATTAGATAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555131	ATCTATCT others(5): Show ATCTATCTAATCT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA20905.hp1 HG01516.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0150 a0001c0001t0007g0151 a0001c0001t0002g0150 a0001c0001t0007g0151	2	310	0.0065	-12	c.141 others(29): Show c.1413+825_1413+836delAGATTAGATAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555134	TATCTAAT others(5): Show TATCTAATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01361.hp2 HG02145.hp2 others(1): Show HG00735.hp1 HG01361.hp2 HG02145.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0001t0028 a0001c0002t0016 others(1): Show a0001c0001t0005 a0001c0001t0028 a0001c0002t0016 a0001c0003t0005	a0001c0001t0005g0309 a0001c0001t0028g0056 a0001c0002t0016g0026 others(1): Show a0001c0001t0005g0309 a0001c0001t0028g0056 a0001c0002t0016g0026 a0001c0003t0005g0284	4	310	0.0129	-12	c.141 others(29): Show c.1413+822_1413+833delGATAGATTAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555135	ATCTAATC others(5): Show ATCTAATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0020 a0001c0002t0004g0020	1	310	0.0032	-12	c.141 others(29): Show c.1413+821_1413+832delAGATAGATTAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555138	TAATCTAT others(5): Show TAATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03704.hp1 HG00733.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0005 a0001c0001t0005 a0001c0003t0005	a0001c0001t0005g0282 a0001c0003t0005g0207 a0001c0001t0005g0282 a0001c0003t0005g0207	2	310	0.0065	-12	c.141 others(29): Show c.1413+818_1413+829delGATAGATAGATT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	AATCTATC others(5): Show AATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0245 a0001c0001t0006g0245	1	310	0.0032	-12	c.141 others(29): Show c.1413+817_1413+828delAGATAGATAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42558030	TCAAAAAC others(5): Show TCAAAAACAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	310	0.0032	-12	c.134 others(31): Show c.1341-2002_1341-1991delTTTTTGTTTTTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	15/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636119	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0185 a0001c0002t0009g0185	1	310	0.0032	-12	c.50- others(27): Show c.50-9022_50-9011delGTGTGTGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636146	ACACACAC others(5): Show ACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0019 a0002c0005t0019	a0002c0005t0019g0138 a0002c0005t0019g0138	1	310	0.0032	-12	c.50- others(27): Show c.50-9049_50-9038delCGTGTGTGTGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465663	TTTTCTTT others(5): Show TTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19091.hp2 HG02630.hp1 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0017 a0001c0003 a0001c0017	a0001c0003t0014 a0001c0017t0036 a0001c0003t0014 a0001c0017t0036	a0001c0003t0014g0084 a0001c0017t0036g0019 a0001c0003t0014g0084 a0001c0017t0036g0019	2	122	0.0164	-12	c.77- others(27): Show c.77-3249_77-3238delTTTCTTTCTTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25481203	AACAGGGA others(5): Show AACAGGGACAGGG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02055.hp2 HG02723.hp2 others(2): Show HG01074.hp2 HG02055.hp2 HG02723.hp2 HG02886.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0053 a0001c0007t0001 others(2): Show a0001c0001t0003 a0001c0001t0053 a0001c0007t0001 a0001c0007t0005 a0001c0007t0007	a0001c0001t0003g0093 a0001c0001t0053g0114 a0001c0007t0001g0081 others(2): Show a0001c0001t0003g0093 a0001c0001t0053g0114 a0001c0007t0001g0081 a0001c0007t0005g0021 a0001c0007t0007g0094	5	122	0.0410	-12	c.221 others(31): Show c.221+12100_221+12111delGACAGGGACAGG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25507253	GTGTGTGT others(5): Show GTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0119 a0001c0002t0006g0119	1	122	0.0082	-12	c.222 others(31): Show c.222-22744_222-22733delGTGTGTGTGTAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25510174	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0018 a0001c0005t0044g0018	1	122	0.0082	-12	c.222 others(31): Show c.222-19789_222-19778delCACACACACACA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25510210	CACACACA others(5): Show CACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01496.hp1 HG02976.hp2 HG01175.hp2 HG01496.hp1 HG02976.hp2	a0001 a0001	a0001c0011 a0001c0018 a0001c0019 a0001c0011 a0001c0018 a0001c0019	a0001c0011t0017 a0001c0018t0024 a0001c0019t0007 a0001c0011t0017 a0001c0018t0024 a0001c0019t0007	a0001c0011t0017g0121 a0001c0018t0024g0066 a0001c0019t0007g0029 a0001c0011t0017g0121 a0001c0018t0024g0066 a0001c0019t0007g0029	3	122	0.0246	-12	c.222 others(31): Show c.222-19787_222-19776delCACACACACAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25516758	TCTTTCTT others(5): Show TCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0059 a0001c0001t0042g0059	1	122	0.0082	-12	c.222 others(31): Show c.222-13229_222-13218delCCTTTCTTTCTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25524886	ACTTCCTT others(5): Show ACTTCCTTCCTTC	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG03098.hp1 others(4): Show HG02647.hp2 HG02896.hp2 HG03098.hp1 HG03490.hp1 HG03579.hp2 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0014	a0001c0001t0009 a0001c0001t0015 a0001c0003t0052 others(4): Show a0001c0001t0009 a0001c0001t0015 a0001c0003t0052 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057 a0001c0014t0034	a0001c0001t0009g0065 a0001c0001t0015g0082 a0001c0003t0052g0113 others(4): Show a0001c0001t0009g0065 a0001c0001t0015g0082 a0001c0003t0052g0113 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0014t0034g0064	7	122	0.0574	-12	c.222 others(29): Show c.222-5072_222-5061delCTTCCTTCCTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25554510	CATGTGTG others(5): Show CATGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0069 a0001c0002t0001g0069	1	122	0.0082	-12	c.118 others(29): Show c.1186-480_1186-469delATGTGTGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	12/36			chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25709111	CAGACAGA others(5): Show CAGACAGACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01261.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG01261.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0013 a0001c0001t0042 a0001c0001t0011 a0001c0001t0013 a0001c0001t0042	a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 others(1): Show a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 a0001c0001t0042g0059	4	122	0.0328	-12	c.238 others(31): Show c.2384+9778_2384+9789delGAGACAGACAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(5): Show GTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0044 a0001c0001t0041g0044	1	122	0.0082	-12	c.275 others(31): Show c.2754+1518_2754+1529delATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar

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