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	138718279	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG02027.hp1 others(19): Show HG00423.hp2 HG00544.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02165.hp2 NA18943.hp1 NA18947.hp2 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18973.hp2 NA18975.hp1 NA18980.hp2 NA18999.hp1 NA19010.hp1 NA19011.hp1 NA19074.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0014 a0002c0002 others(3): Show a0001c0001 a0001c0014 a0002c0002 a0002c0012 a0003c0004 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0012t0001 a0003c0004t0001 a0004c0011t0001	a0001c0001t0001g0080 a0001c0001t0001g0106 a0001c0001t0001g0124 others(19): Show a0001c0001t0001g0080 a0001c0001t0001g0106 a0001c0001t0001g0124 a0001c0001t0001g0173 a0001c0001t0001g0255 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0002g0331 a0001c0014t0001g0267 a0002c0002t0001g0057 a0002c0002t0001g0086 a0002c0002t0001g0131 a0002c0002t0001g0264 a0002c0002t0001g0275 a0002c0002t0001g0295 a0002c0002t0001g0340 a0002c0002t0001g0369 a0002c0002t0002g0191 a0002c0012t0001g0042 a0003c0004t0001g0298 a0004c0011t0001g0266 a0004c0011t0001g0273	22	376	0.0585	-18	c.214 others(37): Show c.2140-2416_2140-2399delACACACACACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138730341	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0181 a0001c0013t0001g0181	1	376	0.0027	-18	c.190 others(37): Show c.1909-1497_1909-1480delACACACACACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	17/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784253	CATATATA others(11): Show CATATATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0001 a0003c0036t0001	a0003c0036t0001g0046 a0003c0036t0001g0046	1	376	0.0027	-18	c.-18 others(35): Show c.-18+1887_-18+1904delATATGTATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0C_chr16_2508952_2525218	2520290	GTCACGTG others(11): Show GTCACGTGGGCTGGCTCGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp1 HG00741.hp2 others(11): Show HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01257.hp1 HG02559.hp1 HG02602.hp1 HG03704.hp2 NA18979.hp1 NA19066.hp1 NA19070.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0057	14	336	0.0417	-18	c.54 others(27): Show c.546_*563delTCACGTGGGCTGGCTCGA	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding		73		chr16	TogoVar
ATP6V0E2_chr7_149868969_149885695	149883272	TTTGGACA others(11): Show TTTGGACACAGTCACTATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	438	0.0023	-18	c.39 others(29): Show c.3958_*3975delTTGGACACAGTCACTATG	ATP6V0E2	ENSG00000171130.19	transcript	ENST00000425642.3	protein_coding		2578		chr7	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	GAGATATA others(11): Show GAGATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0120 a0001c0034t0001g0120	1	440	0.0023	-18	c.174 others(35): Show c.174+1988_174+2005delGATATATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp1 HG01243.hp2 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	440	0.0046	-18	c.174 others(35): Show c.174+2012_174+2029delTATATATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631662	GTGTGTGT others(11): Show GTGTGTGTGTATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG02896.hp2 HG02897.hp2 others(1): Show HG01261.hp1 HG02896.hp2 HG02897.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 others(1): Show a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0314	4	370	0.0108	-18	c.-30 others(29): Show c.-3045_-3028delTATATATATACACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2914		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631690	ATATATAT others(11): Show ATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	370	0.0027	-18	c.-30 others(29): Show c.-3073_-3056delAATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2942		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02615.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0198 a0001c0001t0003g0202 a0001c0001t0003g0198 a0001c0001t0003g0202	2	370	0.0054	-18	c.-30 others(29): Show c.-3089_-3072delAAAAAAAAAAAAAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02897.hp1 HG03130.hp1 others(1): Show HG00438.hp1 HG02897.hp1 HG03130.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0285 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0062 a0001c0001t0001g0285 a0001c0001t0002g0015	4	286	0.0140	-18	c.127 others(35): Show c.1277+852_1277+869delATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755730	ATATATAT others(11): Show ATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	286	0.0035	-18	c.127 others(35): Show c.1277+807_1277+824delAAAATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765454	AACACACA others(11): Show AACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG03471.hp1 HG02886.hp1 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261	3	286	0.0105	-18	c.117 others(37): Show c.1175+4146_1175+4163delGTGTGTGTGTGTGTGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar
ATP8A1_chr4_42403373_42662105	42636119	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0011 a0001c0001t0015g0011	1	310	0.0032	-18	c.50- others(33): Show c.50-9028_50-9011delGTGTGTGTGTGTGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25554510	CATGTGTG others(11): Show CATGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02257.hp2 HG03098.hp1 others(1): Show HG01261.hp2 HG02257.hp2 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 others(1): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0001c0001t0035	a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 others(1): Show a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 a0001c0001t0035g0043	4	122	0.0328	-18	c.118 others(35): Show c.1186-462_1186-445delATGTGTGTGTGTGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG03041.hp2 others(3): Show HG02615.hp2 HG02895.hp1 HG03041.hp2 HG03540.hp1 NA18952.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0013 a0001c0002t0010 a0001c0002t0063 others(3): Show a0001c0001t0013 a0001c0002t0010 a0001c0002t0063 a0001c0003t0027 a0001c0004t0049 a0001c0006t0043	a0001c0001t0013g0005 a0001c0002t0010g0118 a0001c0002t0063g0050 others(3): Show a0001c0001t0013g0005 a0001c0002t0010g0118 a0001c0002t0063g0050 a0001c0003t0027g0047 a0001c0004t0049g0086 a0001c0006t0043g0095	6	122	0.0492	-18	c.275 others(37): Show c.2754+1512_2754+1529delATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	26002847	ACTGTGTG others(11): Show ACTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02622.hp1 HG02630.hp2 HG01175.hp2 HG02622.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0019 a0001c0001 a0001c0002 a0001c0019	a0001c0001t0016 a0001c0002t0016 a0001c0019t0007 a0001c0001t0016 a0001c0002t0016 a0001c0019t0007	a0001c0001t0016g0104 a0001c0002t0016g0011 a0001c0019t0007g0029 a0001c0001t0016g0104 a0001c0002t0016g0011 a0001c0019t0007g0029	3	122	0.0246	-18	c.337 others(37): Show c.3378-9683_3378-9666delCTGTGTGTGTGTGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	35/36			chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57672883	AAAGTATA others(11): Show AAAGTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp2 HG01169.hp1 others(5): Show HG00323.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG02300.hp1 HG02738.hp1 HG03239.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0090 others(5): Show a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0106 a0001c0001t0013g0216 a0001c0001t0013g0272	8	314	0.0255	-18	c.182 others(37): Show c.1820-1321_1820-1304delATATATATATATATACTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672886	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01891.hp2 others(11): Show HG00735.hp1 HG01109.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02630.hp1 HG02818.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0001t0032 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0086 a0001c0001t0001g0098 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0003g0277 a0001c0001t0003g0287 a0001c0001t0011g0172 a0001c0001t0032g0005 a0001c0006t0001g0114	14	314	0.0446	-18	c.182 others(37): Show c.1820-1324_1820-1307delTATATATATATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672915	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	314	0.0032	-18	c.182 others(37): Show c.1820-1353_1820-1336delTTATATATATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57717547	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp1 HG02738.hp2 others(1): Show HG01243.hp1 HG02257.hp1 HG02738.hp2 NA20752.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0011c0015t0010	a0001c0001t0001g0096 a0001c0001t0006g0030 a0001c0001t0011g0154 others(1): Show a0001c0001t0001g0096 a0001c0001t0006g0030 a0001c0001t0011g0154 a0011c0015t0010g0155	4	314	0.0127	-18	c.182 others(37): Show c.182-10978_182-10961delTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154355219	AACACACA others(11): Show AACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00558.hp2 HG00733.hp2 others(38): Show HG00099.hp1 HG00558.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01243.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp2 HG02896.hp2 HG03139.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04199.hp2 NA18612.hp2 NA18942.hp1 NA18960.hp2 NA18980.hp1 NA18982.hp1 NA18989.hp1 NA19000.hp2 NA19007.hp2 NA19057.hp1 NA19065.hp1 NA19085.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0002t0003 a0001c0002t0019 others(5): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0019 a0001c0004t0005 a0001c0004t0017 a0001c0005t0006 a0001c0005t0008 a0001c0007t0006	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0049 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0002t0003g0002 a0001c0002t0003g0011 a0001c0002t0019g0002 a0001c0004t0005g0003 a0001c0004t0005g0136 a0001c0004t0005g0138 a0001c0004t0005g0139 a0001c0004t0005g0141 a0001c0004t0005g0142 a0001c0004t0005g0143 a0001c0004t0005g0150 a0001c0004t0005g0152 a0001c0004t0017g0003 a0001c0005t0006g0008 a0001c0005t0006g0165 a0001c0005t0006g0167 a0001c0005t0006g0168 a0001c0005t0008g0008 a0001c0005t0008g0166 a0001c0007t0006g0131 a0001c0007t0006g0132 a0001c0007t0006g0135	41	382	0.1073	-18	c.61 others(29): Show c.6102_*6119delACACACACACACACACAC	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding		3916		chr1	TogoVar
ATP8B3_chr19_1777075_1817276	1778866	TCACACAC others(11): Show TCACACACACACACACACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0352 a0002c0003t0004g0352	1	390	0.0026	-18	c.41 others(29): Show c.4144_*4161delTGTGTGTGTGTGTGTGTG	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		3208		chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1787728	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(130): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18967.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0000 a0001 a0002 others(11): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0012 a0015 a0017 a0018 a0019 a0023	a0000c0027 a0000c0029 a0000c0040 others(30): Show a0000c0027 a0000c0029 a0000c0040 a0001c0001 a0001c0004 a0001c0006 a0001c0008 a0001c0011 a0001c0013 a0001c0024 a0001c0031 a0001c0064 a0002c0003 a0002c0007 a0002c0009 a0003c0002 a0003c0005 a0003c0010 a0004c0012 a0004c0015 a0004c0016 a0004c0034 a0005c0014 a0005c0033 a0005c0053 a0006c0021 a0009c0025 a0012c0073 a0015c0074 a0017c0069 a0018c0070 a0019c0055 a0023c0051	a0000c0027t0008 a0000c0029t0007 a0000c0040t0008 others(37): Show a0000c0027t0008 a0000c0029t0007 a0000c0040t0008 a0001c0001t0001 a0001c0001t0006 a0001c0004t0002 a0001c0004t0003 a0001c0006t0002 a0001c0006t0004 a0001c0008t0002 a0001c0011t0001 a0001c0011t0018 a0001c0013t0002 a0001c0013t0003 a0001c0024t0002 a0001c0031t0001 a0001c0064t0014 a0002c0003t0005 a0002c0007t0004 a0002c0009t0006 a0003c0002t0004 a0003c0005t0005 a0003c0010t0006 a0003c0010t0019 a0004c0012t0001 a0004c0012t0016 a0004c0015t0002 a0004c0016t0002 a0004c0034t0001 a0005c0014t0002 a0005c0033t0001 a0005c0053t0001 a0006c0021t0002 a0009c0025t0006 a0012c0073t0001 a0015c0074t0002 a0017c0069t0001 a0018c0070t0002 a0019c0055t0002 a0023c0051t0004	a0000c0027t0008g0250 a0000c0027t0008g0263 a0000c0029t0007g0031 others(128): Show a0000c0027t0008g0250 a0000c0027t0008g0263 a0000c0029t0007g0031 a0000c0029t0007g0052 a0000c0040t0008g0265 a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0006g0374 a0001c0004t0002g0064 a0001c0004t0003g0009 a0001c0004t0003g0038 a0001c0004t0003g0088 a0001c0004t0003g0101 a0001c0004t0003g0121 a0001c0006t0002g0034 a0001c0006t0002g0045 a0001c0006t0002g0046 a0001c0006t0002g0061 a0001c0006t0002g0117 a0001c0006t0002g0120 a0001c0006t0002g0126 a0001c0006t0004g0377 a0001c0008t0002g0161 a0001c0011t0001g0172 a0001c0011t0001g0174 a0001c0011t0001g0182 a0001c0011t0001g0183 a0001c0011t0001g0189 a0001c0011t0001g0194 a0001c0011t0001g0203 a0001c0011t0001g0205 a0001c0011t0001g0225 a0001c0011t0018g0231 a0001c0013t0002g0164 a0001c0013t0002g0187 a0001c0013t0002g0190 a0001c0013t0002g0192 a0001c0013t0002g0193 a0001c0013t0002g0212 a0001c0013t0003g0208 a0001c0024t0002g0132 a0001c0031t0001g0133 a0001c0031t0001g0134 a0001c0064t0014g0010 a0002c0003t0005g0313 a0002c0007t0004g0002 a0002c0007t0004g0251 a0002c0007t0004g0252 a0002c0007t0004g0253 a0002c0007t0004g0270 a0002c0007t0004g0279 a0002c0007t0004g0311 a0002c0007t0004g0314 a0002c0007t0004g0319 a0002c0009t0006g0241 a0002c0009t0006g0266 a0002c0009t0006g0268 a0002c0009t0006g0271 a0002c0009t0006g0280 a0002c0009t0006g0284 a0002c0009t0006g0292 a0002c0009t0006g0357 a0003c0002t0004g0303 a0003c0002t0004g0304 a0003c0002t0004g0305 a0003c0002t0004g0334 a0003c0002t0004g0338 a0003c0002t0004g0345 a0003c0002t0004g0355 a0003c0002t0004g0361 a0003c0005t0005g0340 a0003c0010t0006g0295 a0003c0010t0006g0302 a0003c0010t0006g0332 a0003c0010t0006g0335 a0003c0010t0006g0344 a0003c0010t0006g0349 a0003c0010t0006g0369 a0003c0010t0006g0370 a0003c0010t0019g0331 a0004c0012t0001g0113 a0004c0012t0001g0122 a0004c0012t0001g0127 a0004c0012t0001g0128 a0004c0012t0001g0150 a0004c0012t0001g0153 a0004c0012t0001g0154 a0004c0012t0001g0156 a0004c0012t0016g0095 a0004c0015t0002g0202 a0004c0015t0002g0211 a0004c0015t0002g0220 a0004c0016t0002g0111 a0004c0016t0002g0151 a0004c0034t0001g0228 a0005c0014t0002g0023 a0005c0033t0001g0171 a0005c0053t0001g0040 a0006c0021t0002g0016 a0006c0021t0002g0028 a0009c0025t0006g0298 a0012c0073t0001g0219 a0015c0074t0002g0163 a0017c0069t0001g0082 a0018c0070t0002g0108 a0019c0055t0002g0026 a0023c0051t0004g0351	133	390	0.3410	-18	c.307 others(35): Show c.3070-560_3070-543delTTTTTTTTTTTTTTTTTT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	24/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1795784	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG01943.hp2 others(2): Show HG00639.hp2 HG00642.hp2 HG01943.hp2 NA18951.hp1 NA18990.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0007 a0003c0002 a0003c0005 others(1): Show a0002c0007 a0003c0002 a0003c0005 a0007c0036	a0002c0007t0004 a0003c0002t0013 a0003c0005t0004 others(2): Show a0002c0007t0004 a0003c0002t0013 a0003c0005t0004 a0003c0005t0005 a0007c0036t0002	a0002c0007t0004g0314 a0003c0002t0013g0380 a0003c0005t0004g0308 others(2): Show a0002c0007t0004g0314 a0003c0002t0013g0380 a0003c0005t0004g0308 a0003c0005t0005g0330 a0007c0036t0002g0217	5	390	0.0128	-18	c.205 others(33): Show c.2055+73_2055+90delGTGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1795830	CACACACA others(11): Show CACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0002 a0001c0030t0002	a0001c0030t0002g0042 a0001c0030t0002g0042	1	390	0.0026	-18	c.205 others(33): Show c.2055+27_2055+44delATGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	49886243	GAATTTGA others(11): Show GAATTTGAGTAGGATACTC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG03139.hp1 HG02572.hp2 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237	3	254	0.0118	-18	c.269 others(37): Show c.2698-6802_2698-6785delGAGTATCCTACTCAAATT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	23/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50056693	GTATATGT others(11): Show GTATATGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0079 a0003c0003t0002g0079	1	254	0.0039	-18	c.88- others(33): Show c.88-9247_88-9230delTATATATATACACATATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072921	CCTCTCTC others(11): Show CCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0252 a0002c0002t0001g0252	1	254	0.0039	-18	c.87+ others(33): Show c.87+1188_87+1205delAGAGAGAGAGAGAGAGAG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072970	CTCTCTCT others(11): Show CTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0185 a0003c0003t0001g0185	1	254	0.0039	-18	c.87+ others(33): Show c.87+1139_87+1156delTATATATAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073017	TATACACA others(11): Show TATACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	254	0.0039	-18	c.87+ others(33): Show c.87+1092_87+1109delGTGTGTGTGTGTGTGTAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073019	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0076 a0002c0002t0002g0076	1	254	0.0039	-18	c.87+ others(33): Show c.87+1090_87+1107delGTGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01255.hp1 HG02258.hp2 others(3): Show HG01192.hp1 HG01255.hp1 HG02258.hp2 HG03239.hp1 NA19065.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0030	a0001c0001t0001g0190 a0001c0001t0002g0223 a0001c0001t0002g0246 others(3): Show a0001c0001t0001g0190 a0001c0001t0002g0223 a0001c0001t0002g0246 a0001c0001t0002g0296 a0001c0001t0006g0098 a0001c0001t0030g0257	6	312	0.0192	-18	c.166 others(37): Show c.1668+1256_1668+1273delTATATATATATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03486.hp1 NA19009.hp1 HG02723.hp1 HG03486.hp1 NA19009.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0029 a0001c0004t0070 a0001c0015t0015 a0001c0004t0029 a0001c0004t0070 a0001c0015t0015	a0001c0004t0029g0164 a0001c0004t0070g0165 a0001c0015t0015g0017 a0001c0004t0029g0164 a0001c0004t0070g0165 a0001c0015t0015g0017	3	312	0.0096	-18	c.166 others(37): Show c.1668+1254_1668+1271delTATATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51750838	AATCCAAA others(11): Show AATCCAAATGGCAGGAACC	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0039 a0001c0002t0003g0039	1	312	0.0032	-18	c.68+ others(35): Show c.68+17446_68+17463delGGTTCCTGCCATTTGGAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	1/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79327512	ATGGTTAG others(11): Show ATGGTTAGCGTGCTCTCCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(11): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG00735.hp2 HG01123.hp2 HG01517.hp2 HG02155.hp1 HG02735.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03710.hp1 HG04204.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0012 a0002c0002 a0006c0012	a0002c0002t0001 a0002c0002t0002 a0006c0012t0003 a0002c0002t0001 a0002c0002t0002 a0006c0012t0003	a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 others(11): Show a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0164 a0002c0002t0001g0172 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0252 a0002c0002t0002g0256 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222	14	298	0.0470	-18	c.177 others(37): Show c.1774-1568_1774-1551delGCGTGCTCTCCGTGGTTA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327573	GCGTGCTC others(11): Show GCGTGCTCTCCGTGGTTAA	G G	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03710.hp2 HG02698.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0068 a0002c0002t0002g0241 a0001c0001t0001g0068 a0002c0002t0002g0241	2	298	0.0067	-18	c.177 others(37): Show c.1774-1562_1774-1545delTCTCCGTGGTTAACGTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327712	ATGGTTAG others(11): Show ATGGTTAGCGTGCTCGCCG	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	298	0.0034	-18	c.177 others(37): Show c.1774-1414_1774-1397delGCCGTGGTTAGCGTGCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327810	CGTGTTCT others(11): Show CGTGTTCTCCGTGGTTAGT	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02135.hp2 others(12): Show HG01168.hp2 HG01169.hp2 HG02135.hp2 HG02155.hp1 HG02451.hp2 HG02698.hp1 HG02897.hp1 HG02965.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 NA19074.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0011	a0001c0001 a0001c0004 a0001c0006 others(4): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0002c0002 a0006c0012 a0011c0035	a0001c0001t0001 a0001c0004t0002 a0001c0006t0004 others(5): Show a0001c0001t0001 a0001c0004t0002 a0001c0006t0004 a0001c0013t0004 a0002c0002t0002 a0002c0002t0004 a0006c0012t0003 a0011c0035t0002	a0001c0001t0001g0118 a0001c0004t0002g0109 a0001c0006t0004g0291 others(12): Show a0001c0001t0001g0118 a0001c0004t0002g0109 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0013t0004g0108 a0001c0013t0004g0111 a0002c0002t0002g0241 a0002c0002t0002g0256 a0002c0002t0004g0253 a0006c0012t0003g0203 a0006c0012t0003g0221 a0006c0012t0003g0222 a0011c0035t0002g0201	15	298	0.0503	-18	c.177 others(37): Show c.1774-1313_1774-1296delTGTGTTCTCCGTGGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327838	GTGGTTAG others(11): Show GTGGTTAGCGTGCTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00741.hp2 others(65): Show HG00099.hp2 HG00609.hp2 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02738.hp1 HG02886.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18960.hp1 NA18960.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA19056.hp2 NA19074.hp1 NA19079.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(2): Show a0001 a0002 a0009 a0012 a0016	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0009c0034 a0012c0018 a0016c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0005t0004 a0009c0034t0002 a0012c0018t0002 a0016c0028t0012	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 others(65): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0156 a0001c0001t0002g0079 a0001c0001t0003g0072 a0001c0003t0001g0136 a0001c0003t0001g0137 a0001c0003t0003g0112 a0001c0003t0003g0121 a0001c0003t0003g0122 a0001c0003t0003g0124 a0001c0003t0003g0125 a0001c0003t0003g0126 a0001c0003t0003g0127 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0003g0142 a0001c0003t0003g0143 a0001c0003t0003g0145 a0001c0003t0003g0146 a0001c0003t0011g0134 a0001c0003t0013g0148 a0001c0004t0001g0016 a0001c0004t0003g0034 a0001c0004t0003g0110 a0001c0004t0003g0120 a0001c0004t0004g0117 a0002c0002t0002g0180 a0002c0002t0002g0189 a0002c0002t0002g0219 a0002c0002t0002g0229 a0002c0002t0002g0231 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0003g0198 a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0193 a0002c0005t0001g0194 a0002c0005t0001g0197 a0002c0005t0001g0243 a0002c0005t0004g0184 a0009c0034t0002g0186 a0012c0018t0002g0114 a0016c0028t0012g0144	68	298	0.2282	-18	c.177 others(37): Show c.1774-1281_1774-1264delTTAGCGTGCTCTCCATGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327928	CTGGTTAG others(11): Show CTGGTTAGCGTGCTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00673.hp2 others(56): Show HG00140.hp1 HG00544.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01169.hp1 HG01261.hp2 HG01358.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG02132.hp2 HG02135.hp1 HG02293.hp1 HG02451.hp1 HG02630.hp1 HG02717.hp1 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG03098.hp1 HG03139.hp1 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp2 NA18961.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp1 NA19070.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0001c0025 a0001c0026 a0002c0005 a0005c0016	a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 a0001c0025t0001 a0001c0026t0001 a0002c0005t0001 a0005c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(56): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0003t0001g0136 a0001c0015t0001g0130 a0001c0015t0001g0132 a0001c0025t0001g0074 a0001c0026t0001g0038 a0002c0005t0001g0178 a0002c0005t0001g0193 a0002c0005t0001g0242 a0005c0016t0001g0169	59	298	0.1980	-18	c.177 others(37): Show c.1774-1178_1774-1161delCGTGGTTAGCGTGCTCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327964	GTGGTTAG others(11): Show GTGGTTAGCGTGCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA21309.hp2 HG02970.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0006 a0001c0001t0001 a0001c0011t0006	a0001c0001t0001g0002 a0001c0011t0006g0107 a0001c0001t0001g0002 a0001c0011t0006g0107	2	298	0.0067	-18	c.177 others(37): Show c.1774-1160_1774-1143delTCTGGTTAGCGTGCTCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327982	CTGGTTAG others(11): Show CTGGTTAGCGTGCTCTCCG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01168.hp1 HG00639.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0173 a0002c0002t0002g0223 a0002c0002t0002g0173 a0002c0002t0002g0223	2	298	0.0067	-18	c.177 others(37): Show c.1774-1106_1774-1089delCGTGGTTAGCGTGCTCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATPSCKMT_chr5_10220507_10254888	10249895	TTTAAAAA others(11): Show TTTAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0121 a0001c0002t0007g0121	1	358	0.0028	-18	c.-40 others(25): Show c.-40_-23delTTTTTTTTTTTTTTTTAA	ATPSCKMT	ENSG00000150756.14	transcript	ENST00000511437.6	protein_coding		8		chr5	TogoVar
ATRNL1_chr10_115088365_115953999	115230870	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0110 a0001c0015t0034g0110	1	128	0.0078	-18	c.153 others(39): Show c.1533-10666_1533-10649delGAGAGAGAGAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	9/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115389574	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02896.hp1 HG02897.hp2 others(2): Show HG00639.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0021 a0001c0005t0032 a0001c0005t0007 a0001c0005t0021 a0001c0005t0032	a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 others(2): Show a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0021g0007 a0001c0005t0032g0005	5	128	0.0391	-18	c.317 others(37): Show c.3176-5083_3176-5066delATATATATATATATATTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115645499	TATATATA others(11): Show TATATATAAATATAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0034 a0001c0015t0034	a0001c0015t0034g0110 a0001c0015t0034g0110	1	128	0.0078	-18	c.379 others(39): Show c.3796-81741_3796-81724delAATATAAAAAAATATATA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115740837	CACACACA others(11): Show CACACACACACACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG01123.hp2 others(31): Show HG00741.hp1 HG01071.hp1 HG01123.hp2 HG01258.hp1 HG01361.hp1 HG02015.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp2 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp2 NA18522.hp1 NA18957.hp1 NA18994.hp1 NA18995.hp1 NA19003.hp2 NA19011.hp1 NA19043.hp2 NA19070.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0011 a0001c0013 a0001c0015	a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 others(20): Show a0001c0001t0007 a0001c0001t0011 a0001c0001t0017 a0001c0001t0024 a0001c0001t0035 a0001c0001t0036 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0003 a0001c0003t0015 a0001c0003t0038 a0001c0003t0045 a0001c0003t0047 a0001c0006t0009 a0001c0006t0013 a0001c0006t0033 a0001c0010t0006 a0001c0011t0002 a0001c0013t0009 a0001c0015t0034	a0001c0001t0007g0027 a0001c0001t0011g0112 a0001c0001t0017g0028 others(31): Show a0001c0001t0007g0027 a0001c0001t0011g0112 a0001c0001t0017g0028 a0001c0001t0024g0024 a0001c0001t0035g0118 a0001c0001t0036g0117 a0001c0002t0001g0045 a0001c0002t0001g0103 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0006g0086 a0001c0002t0028g0076 a0001c0003t0003g0060 a0001c0003t0015g0108 a0001c0003t0038g0106 a0001c0003t0045g0090 a0001c0003t0047g0128 a0001c0006t0009g0038 a0001c0006t0013g0029 a0001c0006t0033g0035 a0001c0010t0006g0087 a0001c0011t0002g0116 a0001c0013t0009g0078 a0001c0015t0034g0110	34	128	0.2656	-18	c.390 others(39): Show c.3903+13494_3903+13511delCACACAAACACACACACA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115837466	CCACACAC others(11): Show CCACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp2 HG01258.hp2 others(15): Show HG00738.hp1 HG01071.hp2 HG01258.hp2 HG01361.hp2 HG02055.hp1 HG02145.hp1 HG02615.hp1 HG02717.hp2 HG02895.hp2 HG02976.hp2 HG03041.hp2 HG03471.hp2 HG03486.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0009 a0001c0011 a0002c0014	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0017 a0001c0002t0001 a0001c0003t0001 a0001c0003t0039 a0001c0006t0033 a0001c0009t0005 a0001c0011t0002 a0002c0014t0009	a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0008g0079 others(15): Show a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0008g0079 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0011g0119 a0001c0001t0017g0028 a0001c0002t0001g0041 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0103 a0001c0003t0001g0083 a0001c0003t0039g0126 a0001c0006t0033g0035 a0001c0009t0005g0059 a0001c0011t0002g0116 a0002c0014t0009g0072	18	128	0.1406	-18	c.390 others(39): Show c.3904-10367_3904-10350delACACACACACACACACAC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	27/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115911408	CCTGTGTT others(11): Show CCTGTGTTCAAGCGATTCT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0037 a0001c0002t0005g0037	1	128	0.0078	-18	c.401 others(39): Show c.4019-33248_4019-33231delTGTGTTCAAGCGATTCTC	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	28/28		INFO_REALIGN_3_PRIME	chr10	TogoVar

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