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
ATP6V0A4_chr7_138701294_138803196	138758739	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0268 a0005c0006t0001g0268	1	376	0.0027	10	c.639 others(27): Show c.639+1003_639+1012dupAAAAAAAAAA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	8/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138759052	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0359 a0001c0005t0002g0359	1	376	0.0027	10	c.639 others(25): Show c.639+690_639+699dupAAAAAAAAAA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	8/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784223	T T	TATATATA others(3): Show TATATATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0348 a0001c0005t0001g0348	1	376	0.0027	10	c.-18 others(27): Show c.-18+1934_-18+1935insGTGTATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0C_chr16_2508952_2525218	2517713	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04204.hp2 NA19012.hp1 HG03669.hp1 HG04204.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	3	336	0.0089	10	c.80- others(25): Show c.80-1473_80-1464dupGTGTGTGTGT	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP6V0D2_chr8_86093910_86159225	86104850	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01433.hp2 others(5): Show HG00735.hp2 HG01081.hp2 HG01433.hp2 HG02145.hp1 HG02559.hp1 HG02886.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(5): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117	8	360	0.0222	10	c.130 others(27): Show c.130+5762_130+5771dupCACACACACA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(3): Show CTATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18956.hp1 HG01515.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0071 a0001c0001t0003g0156 a0001c0001t0001g0071 a0001c0001t0003g0156	2	360	0.0056	10	c.302 others(29): Show c.302+12374_302+12383dupATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(3): Show AAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	360	0.0028	10	c.639 others(27): Show c.639+2282_639+2283insAAGAAAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145235	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19070.hp1 NA18982.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0267 a0001c0001t0002g0241 a0001c0001t0002g0267	2	360	0.0056	10	c.639 others(27): Show c.639+2282_639+2283insAAGAAAGAAA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145255	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19054.hp1 NA18980.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0271 a0001c0001t0002g0242 a0001c0001t0002g0271	2	360	0.0056	10	c.639 others(27): Show c.639+2302_639+2303insAAGAAAGAAA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145374	G G	GAAAGAAA others(3): Show GAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03927.hp1 NA18973.hp1 others(1): Show HG03704.hp2 HG03927.hp1 NA18973.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0002g0236 others(1): Show a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0002g0236 a0001c0001t0002g0266	4	360	0.0111	10	c.639 others(27): Show c.639+2456_639+2465dupAAAGAAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0E1_chr5_172978771_173040445	172996574	A A	AAAAAACA others(3): Show AAAAAACATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG02055.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0201 a0001c0001t0006g0202	2	292	0.0069	10	c.152 others(27): Show c.152+1753_152+1754insAAAACATACA	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V0E1_chr5_172978771_173040445	173025504	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	292	0.0034	10	c.36 others(27): Show c.36+5155_*36+5164dupTTTTTTTTTT	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V0E1_chr5_172978771_173040445	173032253	A A	ATTTTATT others(3): Show ATTTTATTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0215 a0001c0001t0010g0215	1	292	0.0034	10	c.37 others(27): Show c.37-2143_*37-2142insTATTTTTTTT	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1A_chr3_113742035_113817056	113749263	T T	TCACACAC others(3): Show TCACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0035 a0001c0001t0022g0035	1	312	0.0032	10	c.-14 others(27): Show c.-14+2184_-14+2193dupACACACACAC	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP6V1B1_chr2_70930900_70970431	70934076	A A	AATATATA others(3): Show AATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	440	0.0023	10	c.-18 others(21): Show c.-1879_-1878insATATATATAT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		1823		chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02080.hp1 HG02622.hp1 others(4): Show HG02071.hp2 HG02080.hp1 HG02622.hp1 HG04184.hp2 NA18944.hp2 NA18947.hp2 NA19004.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0008 others(2): Show a0001c0001 a0001c0002 a0002c0008 a0003c0009 a0003c0022	a0001c0001t0001 a0001c0002t0001 a0002c0008t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0002c0008t0002 a0003c0009t0001 a0003c0022t0004	a0001c0001t0001g0093 a0001c0002t0001g0113 a0001c0002t0001g0159 others(4): Show a0001c0001t0001g0093 a0001c0002t0001g0113 a0001c0002t0001g0159 a0002c0008t0002g0344 a0002c0008t0002g0385 a0003c0009t0001g0215 a0003c0022t0004g0211	7	440	0.0159	10	c.174 others(27): Show c.174+1987_174+1988insTATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GAGATATA others(3): Show GAGATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02145.hp2 HG01167.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0182 a0001c0001t0001g0030 a0001c0001t0001g0182	2	440	0.0046	10	c.174 others(27): Show c.174+1989_174+1990insGATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18947.hp1 NA18975.hp1 others(3): Show HG02970.hp1 NA18947.hp1 NA18975.hp1 NA18975.hp2 NA19055.hp1 NA19063.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0003c0036 a0005c0020	a0001c0001t0006 a0001c0007t0001 a0002c0003t0001 others(2): Show a0001c0001t0006 a0001c0007t0001 a0002c0003t0001 a0003c0036t0008 a0005c0020t0001	a0001c0001t0006g0396 a0001c0007t0001g0173 a0002c0003t0001g0292 others(2): Show a0001c0001t0006g0396 a0001c0007t0001g0173 a0002c0003t0001g0292 a0003c0036t0008g0218 a0005c0020t0001g0018	6	440	0.0136	10	c.174 others(27): Show c.174+2020_174+2029dupTATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70950932	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0122 a0001c0005t0001g0122	1	440	0.0023	10	c.175 others(27): Show c.175-7096_175-7087dupTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01175.hp1 others(4): Show HG01167.hp1 HG01169.hp2 HG01175.hp1 HG02630.hp2 HG02809.hp1 NA18959.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0012	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 a0002c0012t0005	a0001c0001t0001g0010 a0001c0002t0001g0051 a0001c0005t0001g0069 others(3): Show a0001c0001t0001g0010 a0001c0002t0001g0051 a0001c0005t0001g0069 a0002c0003t0001g0305 a0002c0003t0001g0321 a0002c0012t0005g0273	7	440	0.0159	10	c.114 others(27): Show c.1144-311_1144-302dupTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70968945	A A	AGTTTTGT others(3): Show AGTTTTGTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02451.hp1 others(11): Show HG01884.hp1 HG01891.hp1 HG02451.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG03139.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0004 a0001c0001 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0001t0010 a0001c0007t0001 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0007t0001 a0001c0007t0011 a0003c0004t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(11): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0145 a0001c0001t0001g0185 a0001c0001t0010g0023 a0001c0007t0001g0177 a0001c0007t0011g0154 a0003c0004t0001g0246 a0003c0004t0001g0267	14	440	0.0318	10	c.38 others(21): Show c.3824_*3825insGTTTTGTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		3515		chr2	TogoVar
ATP6V1C1_chr8_103016083_103078051	103047430	G G	GCGCACAC others(3): Show GCGCACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp1 HG02559.hp2 others(4): Show HG01243.hp2 HG02257.hp1 HG02559.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0288 others(2): Show a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0288 a0001c0001t0004g0291 a0001c0001t0004g0292	7	412	0.0170	10	c.201 others(27): Show c.201-1439_201-1438insGCACACACAC	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10719622	T T	TTTTGGTT others(3): Show TTTTGGTTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp1 NA18983.hp1 NA19090.hp2 NA18965.hp1 NA18983.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0301 a0002c0002t0001g0300 a0002c0002t0001g0343 a0001c0001t0002g0301 a0002c0002t0001g0300 a0002c0002t0001g0343	3	354	0.0085	10	c.-21 others(21): Show c.-2136_-2135insTTTGGTTTGG	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding		2007		chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10729172	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02559.hp1 HG02630.hp1 others(4): Show HG00673.hp1 HG02559.hp1 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp2 NA20300.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0002c0018 a0007c0017	a0001c0001t0002 a0001c0001t0026 a0002c0002t0003 others(4): Show a0001c0001t0002 a0001c0001t0026 a0002c0002t0003 a0002c0002t0004 a0002c0003t0004 a0002c0018t0013 a0007c0017t0001	a0001c0001t0002g0170 a0001c0001t0026g0100 a0002c0002t0003g0246 others(4): Show a0001c0001t0002g0170 a0001c0001t0026g0100 a0002c0002t0003g0246 a0002c0002t0004g0103 a0002c0003t0004g0152 a0002c0018t0013g0217 a0007c0017t0001g0216	7	354	0.0198	10	c.197 others(27): Show c.197+2604_197+2613dupTTTTTTTTTT	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17629818	T T	TACACACA others(3): Show TACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG01192.hp2 others(28): Show HG00408.hp2 HG00639.hp2 HG01192.hp2 HG01978.hp2 HG02071.hp2 HG02135.hp1 HG02572.hp1 HG02630.hp1 HG02809.hp1 HG02922.hp2 HG03098.hp2 HG03225.hp2 HG03579.hp1 HG04184.hp2 HG06807.hp2 NA18747.hp1 NA18943.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18972.hp1 NA18986.hp1 NA18989.hp1 NA18998.hp2 NA19012.hp1 NA19077.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0001c0001t0003 a0004c0008t0002 a0001c0001t0002 a0001c0001t0003 a0004c0008t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0237 others(28): Show a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0237 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0263 a0001c0001t0002g0267 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0292 a0001c0001t0003g0024 a0001c0001t0003g0197 a0001c0001t0003g0203 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0257 a0001c0001t0003g0268 a0001c0001t0003g0276 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0299 a0004c0008t0002g0193	31	370	0.0838	10	c.-11 others(21): Show c.-1193_-1184dupGTGTGTGTGT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		1070		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTATATAT others(3): Show GTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA20805.hp1 HG03017.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0086 a0001c0001t0013g0321 a0001c0001t0001g0086 a0001c0001t0013g0321	2	370	0.0054	10	c.-30 others(21): Show c.-3045_-3036dupTATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTATAT others(3): Show GTGTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG00642.hp2 others(12): Show HG00099.hp1 HG00609.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp2 HG02080.hp2 HG02132.hp1 HG03239.hp1 NA18942.hp1 NA18950.hp1 NA18961.hp2 NA18962.hp1 NA18986.hp2 NA18999.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0058 others(12): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0072 a0001c0001t0001g0084 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0117 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0165	15	370	0.0405	10	c.-30 others(21): Show c.-3036_-3035insTATATATACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTATTT others(3): Show GTGTATTTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	370	0.0027	10	c.-30 others(21): Show c.-3036_-3035insTATAAATACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTGTAT others(3): Show GTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	370	0.0027	10	c.-30 others(21): Show c.-3036_-3035insTATATACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(3): Show ATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG06807.hp1 HG03225.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0157 a0001c0001t0001g0101 a0001c0001t0001g0157	2	370	0.0054	10	c.-30 others(21): Show c.-3072_-3071insAATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(3): Show ATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02559.hp2 HG03540.hp2 others(6): Show HG02083.hp1 HG02559.hp2 HG03540.hp2 NA18964.hp1 NA18980.hp1 NA18984.hp1 NA18994.hp2 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0065 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0106 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0005g0005	9	370	0.0243	10	c.-30 others(21): Show c.-3072_-3071insAAAATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATTT others(3): Show ATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	370	0.0027	10	c.-30 others(21): Show c.-3072_-3071insAAAAAATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATTTTT others(3): Show ATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	370	0.0027	10	c.-30 others(21): Show c.-3072_-3071insAAAAAAAATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01496.hp1 others(2): Show HG01070.hp1 HG01071.hp2 HG01496.hp1 HG01978.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0062 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0084	5	410	0.0122	10	c.-10 others(29): Show c.-101-5688_-101-5679dupGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01978.hp2 NA19068.hp2 HG00280.hp1 HG01978.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0001t0001g0240 a0001c0001t0001g0049 a0001c0001t0001g0087 a0001c0001t0001g0240	3	410	0.0073	10	c.-10 others(29): Show c.-101-5956_-101-5947dupCACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46525461	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	410	0.0024	10	c.-10 others(31): Show c.-102+10342_-102+10351dupTTTTTTTTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46540613	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02027.hp2 HG02145.hp1 others(10): Show HG00323.hp1 HG02027.hp2 HG02145.hp1 HG02257.hp1 HG03130.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18957.hp2 NA18959.hp2 NA18982.hp2 NA18992.hp2 NA19066.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0003 a0003c0004t0005	a0001c0001t0003g0010 a0001c0001t0003g0134 a0001c0001t0003g0135 others(7): Show a0001c0001t0003g0010 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0186 a0001c0001t0005g0095 a0001c0001t0005g0125 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0002t0003g0301 a0003c0004t0005g0133	13	410	0.0317	10	c.-31 others(27): Show c.-310+767_-310+776dupAAAAAAAAAA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128867911	G G	GATGTATG others(3): Show GATGTATGCAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0021 a0001c0010t0021	a0001c0010t0021g0030 a0001c0010t0021g0030	1	442	0.0023	10	c.422 others(25): Show c.422-755_422-754insATGTATGCAA	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/1			chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128875133	G G	GGGTAATA others(3): Show GGGTAATATGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	442	0.0023	10	c.63 others(21): Show c.6358_*6359insGGTAATATGA	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding		3087		chr7	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588510	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00639.hp1 HG00673.hp1 others(26): Show HG00597.hp2 HG00639.hp1 HG00673.hp1 HG01257.hp1 HG01975.hp1 HG02129.hp2 HG04228.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18992.hp1 NA18997.hp1 NA19001.hp2 NA19079.hp1 NA19083.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0002g0012 others(9): Show a0001c0001t0001g0062 a0001c0001t0001g0070 a0001c0001t0002g0012 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0006g0004 a0001c0001t0006g0065 a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0069 a0001c0001t0006g0071	29	420	0.0691	10	c.82+ others(23): Show c.82+611_82+620dupGTGTGTGTGT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1G3_chr1_198518222_198545680	198538891	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01106.hp2 HG01243.hp2 others(40): Show HG00423.hp2 HG01106.hp2 HG01243.hp2 HG01358.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02165.hp2 HG02451.hp1 HG02630.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03139.hp2 HG03453.hp1 HG03540.hp2 HG04199.hp2 HG04204.hp2 NA18970.hp1 NA18974.hp2 NA18980.hp2 NA18981.hp2 NA18985.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA19000.hp2 NA19062.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0028 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0002g0017 a0002c0002t0001g0012 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0003c0003t0001g0051 a0003c0003t0001g0052	43	405	0.1062	10	c.82+ others(25): Show c.82+1668_82+1677dupTTTTTTTTTT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53715551	G G	GATCGATA others(3): Show GATCGATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	286	0.0070	10	c.41 others(19): Show c.412_*413insATCTATCGAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	14/14	412		chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53798610	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	286	0.0035	10	c.678 others(27): Show c.678-2781_678-2772dupGTGTGTGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	8/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	C C	CACATATA others(3): Show CACATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	286	0.0035	10	c.307 others(27): Show c.307-2018_307-2017insATATATATGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp2 HG02523.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0186 a0001c0001t0001g0023 a0001c0001t0001g0186	2	286	0.0070	10	c.307 others(27): Show c.307-2027_307-2018dupATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819585	T T	TATATATA others(3): Show TATATATATAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18966.hp2 NA18942.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0115 a0001c0001t0002g0118	2	286	0.0070	10	c.307 others(27): Show c.307-2056_307-2055insTTATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77956785	T T	TTCTTTCT others(3): Show TTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	233	0.0043	10	c.-21 others(29): Show c.-21-14833_-21-14832insTTCTTTCTCT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78037980	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18969.hp2 NA18974.hp1 others(1): Show HG02165.hp1 NA18969.hp2 NA18974.hp1 NA19085.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0003 a0009c0010 a0002c0002 a0003c0003 a0009c0010	a0002c0002t0002 a0003c0003t0002 a0009c0010t0026 a0002c0002t0002 a0003c0003t0002 a0009c0010t0026	a0002c0002t0002g0064 a0002c0002t0002g0070 a0003c0003t0002g0043 others(1): Show a0002c0002t0002g0064 a0002c0002t0002g0070 a0003c0003t0002g0043 a0009c0010t0026g0104	4	233	0.0172	10	c.351 others(27): Show c.3512-839_3512-830dupTTTTTTTTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0005 a0003c0015t0005	a0003c0015t0005g0268 a0003c0015t0005g0268	1	302	0.0033	10	c.244 others(29): Show c.2448-3462_2448-3453dupTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP7B_chr13_51927669_52016450	51964108	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19240.hp2 NA20300.hp1 HG01243.hp1 NA19240.hp2 NA20300.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0011 a0008c0010t0011	a0008c0010t0011g0151 a0008c0010t0011g0152 a0008c0010t0011g0153 a0008c0010t0011g0151 a0008c0010t0011g0152 a0008c0010t0011g0153	3	302	0.0099	10	c.186 others(27): Show c.1869+754_1869+763dupGTGTGTGTGT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	5/20			chr13	TogoVar

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