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
ATP2C2_chr16_84363538_84469187	84424576	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 NA20129.hp1 HG01891.hp1 HG02572.hp1 NA20129.hp1	a0006 a0007 a0012 a0006 a0007 a0012	a0006c0060 a0007c0058 a0012c0034 a0006c0060 a0007c0058 a0012c0034	a0006c0060t0001 a0007c0058t0002 a0012c0034t0001 a0006c0060t0001 a0007c0058t0002 a0012c0034t0001	a0006c0060t0001g0013 a0007c0058t0002g0266 a0012c0034t0001g0073 a0006c0060t0001g0013 a0007c0058t0002g0266 a0012c0034t0001g0073	3	432	0.0069	13	c.920 others(30): Show c.920-1148_920-1136dupTTTTTTTTTTTTT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 NA18978.hp1 HG02647.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0011 a0001c0001t0003g0003 a0001c0001t0001g0011 a0001c0001t0003g0003	2	334	0.0060	13	c.32 others(24): Show c.3298_*3299insAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53667995	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG04204.hp1 HG02809.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0219 a0001c0001t0001g0177 a0001c0001t0001g0219	2	418	0.0048	13	c.311 others(30): Show c.311+1152_311+1153insATATATATATATA	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	418	0.0024	13	c.39+ others(26): Show c.39+480_39+492dupTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02559.hp2 HG02647.hp2 others(5): Show HG01884.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0003g0000 a0001c0001t0004g0000	8	374	0.0214	13	c.12 others(24): Show c.1231_*1243dupTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5PF_chr21_25719500_25739904	25730736	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03017.hp2 HG00738.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0122 a0001c0001t0001g0097 a0001c0001t0001g0122	2	416	0.0048	13	c.-7- others(26): Show c.-7-948_-7-936dupTTTTTTTTTTTTT	ATP5PF	ENSG00000154723.13	transcript	ENST00000284971.8	protein_coding	1/3			chr21	TogoVar
ATP5PO_chr21_33898453_33920804	33905918	G G	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18949.hp2 NA18961.hp2 others(5): Show HG00408.hp2 NA18949.hp2 NA18961.hp2 NA18963.hp2 NA18985.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0046 a0001c0001t0001g0013 a0001c0001t0001g0046	8	436	0.0184	13	c.441 others(30): Show c.441+1410_441+1422dupTTTTTTTTTTTTT	ATP5PO	ENSG00000241837.7	transcript	ENST00000290299.7	protein_coding	5/6			chr21	TogoVar
ATP6V0A1_chr17_42453878_42527579	42459525	A A	AGAGATAT others(6): Show AGAGATATTCTTGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	320	0.0031	13	c.-48 others(28): Show c.-48+567_-48+579dupTATTCTTGGGAGA	ATP6V0A1	ENSG00000033627.18	transcript	ENST00000343619.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP6V0A1_chr17_42453878_42527579	42469241	G G	GAAAGTTA others(6): Show GAAAGTTACCAAGT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	320	0.0031	13	c.295 others(28): Show c.295-847_295-835dupAAGTTACCAAGTA	ATP6V0A1	ENSG00000033627.18	transcript	ENST00000343619.9	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP6V0A2_chr12_123707353_123766755	123729322	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18961.hp1 NA20805.hp2 HG01099.hp1 NA18961.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0016g0066 a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0016g0066	3	222	0.0135	13	c.648 others(30): Show c.648+1424_648+1425insTTTTTTTTTTTTT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123765585	T T	TATCTATC others(6): Show TATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01975.hp1 HG01978.hp2 others(1): Show HG01346.hp1 HG01975.hp1 HG01978.hp2 HG02148.hp1	a0002 a0010 a0002 a0010	a0002c0004 a0010c0012 a0002c0004 a0010c0012	a0002c0004t0006 a0010c0012t0020 a0002c0004t0006 a0010c0012t0020	a0002c0004t0006g0017 a0002c0004t0006g0191 a0010c0012t0020g0086 a0002c0004t0006g0017 a0002c0004t0006g0191 a0010c0012t0020g0086	4	222	0.0180	13	c.75 others(24): Show c.7553_*7554insATCTATCTATCTA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		3831		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718201	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0207 a0003c0004t0001g0207	1	376	0.0027	13	c.214 others(32): Show c.2140-2321_2140-2320insACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737113	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02615.hp1 HG02040.hp2 HG02615.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0033 a0002c0002 a0003c0033	a0002c0002t0001 a0003c0033t0004 a0002c0002t0001 a0003c0033t0004	a0002c0002t0001g0307 a0003c0033t0004g0364 a0002c0002t0001g0307 a0003c0033t0004g0364	2	376	0.0053	13	c.157 others(32): Show c.1572+2426_1572+2427insTATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0032 a0001c0005t0001g0032	1	376	0.0027	13	c.132 others(30): Show c.1321-391_1321-379dupTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138774617	A A	AATATATA others(6): Show AATATATACATTAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	376	0.0027	13	c.-17 others(30): Show c.-17-3354_-17-3353insATAATGTATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D1_chr16_67433019_67486157	67449843	T T	TCCTCACA others(6): Show TCCTCACATAACCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	174	0.0058	13	c.302 others(30): Show c.302+3700_302+3701insTGGTTATGTGAGG	ATP6V0D1	ENSG00000159720.13	transcript	ENST00000290949.8	protein_coding	2/7			chr16	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(6): Show AAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0250	1	360	0.0028	13	c.639 others(30): Show c.639+2282_639+2283insAAGAAAGAAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp2 HG02630.hp1 others(4): Show HG00642.hp2 HG01243.hp2 HG02630.hp1 HG02717.hp1 HG03098.hp1 HG03139.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0011 others(1): Show a0001c0001 a0002c0003 a0002c0011 a0002c0013	a0001c0001t0001 a0002c0003t0001 a0002c0011t0002 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0011t0002 a0002c0013t0002	a0001c0001t0001g0034 a0001c0001t0001g0185 a0002c0003t0001g0410 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0185 a0002c0003t0001g0410 a0002c0011t0002g0284 a0002c0011t0002g0392 a0002c0013t0002g0386 a0002c0013t0002g0391	7	440	0.0159	13	c.114 others(30): Show c.1144-314_1144-302dupTTTTTTTTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70965548	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 NA18522.hp2 HG02717.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0002c0006t0001 a0001c0001t0001 a0002c0006t0001	a0001c0001t0001g0143 a0002c0006t0001g0268 a0001c0001t0001g0143 a0002c0006t0001g0268	2	440	0.0046	13	c.42 others(22): Show c.427_*428insAAAAAAAAAAAAA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		118		chr2	TogoVar
ATP6V1D_chr14_67332872_67364804	67351911	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18960.hp2 NA19063.hp2 others(1): Show HG03041.hp2 NA18960.hp2 NA19063.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0078 a0001c0001t0002g0082 others(1): Show a0001c0001t0002g0064 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083	4	348	0.0115	13	c.159 others(30): Show c.159+1011_159+1012insTTTTTTTTTTTTT	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	2/8			chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17614350	A A	AAAAAAAT others(6): Show AAAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	370	0.0027	13	c.100 others(30): Show c.100-1043_100-1031dupATTTTTATTTTTT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	2/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	370	0.0027	13	c.-30 others(24): Show c.-3072_-3071insATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(6): Show ATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA18959.hp1 NA19011.hp2 HG01243.hp1 NA18959.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0120 a0001c0001t0001g0143 a0001c0001t0001g0061 a0001c0001t0001g0120 a0001c0001t0001g0143	3	370	0.0081	13	c.-30 others(24): Show c.-3072_-3071insAAATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(6): Show ATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18964.hp2 NA19012.hp2 others(2): Show NA18943.hp2 NA18964.hp2 NA19012.hp2 NA19079.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0144 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0158	5	370	0.0135	13	c.-30 others(24): Show c.-3072_-3071insAAAAATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATATAT others(6): Show ATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	370	0.0027	13	c.-30 others(24): Show c.-3072_-3071insAAAAAAATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18983.hp2 NA18981.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0139 a0001c0001t0001g0018 a0001c0001t0001g0139	2	370	0.0054	13	c.-30 others(24): Show c.-3072_-3071insAAAAAAAAAAATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631707	T T	TATATATA others(6): Show TATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	370	0.0027	13	c.-30 others(24): Show c.-3073_-3072insTATATATATATAT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2959		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	410	0.0024	13	c.-10 others(32): Show c.-101-5679_-101-5678insGTGTGTGTGTGTG	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1G3_chr1_198518222_198545680	198538891	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	405	0.0025	13	c.82+ others(28): Show c.82+1665_82+1677dupTTTTTTTTTTTTT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP7A_chrX_77905693_78055395	77956726	C C	CTCTTTCT others(6): Show CTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18965.hp1 HG02451.hp1 NA18965.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0011 a0004c0004t0009 a0001c0001t0011 a0004c0004t0009	a0001c0001t0011g0225 a0004c0004t0009g0132 a0001c0001t0011g0225 a0004c0004t0009g0132	2	233	0.0086	13	c.-21 others(32): Show c.-21-14895_-21-14894insTCTTTCTTTCTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22			chrX	TogoVar
ATP7A_chrX_77905693_78055395	78037980	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp2 HG00738.hp1 others(15): Show HG00544.hp2 HG00735.hp2 HG00738.hp1 HG01258.hp1 HG01496.hp2 HG01884.hp1 HG02056.hp1 HG02683.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03710.hp1 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA20129.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(3): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0016 a0002c0002t0018 a0008c0009t0003	a0001c0001t0003g0015 a0001c0001t0003g0016 a0002c0002t0002g0068 others(15): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0077 a0002c0002t0002g0103 a0002c0002t0003g0024 a0002c0002t0003g0028 a0002c0002t0003g0036 a0002c0002t0003g0066 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0221 a0002c0002t0016g0084 a0002c0002t0018g0076 a0008c0009t0003g0078	18	233	0.0773	13	c.351 others(30): Show c.3512-842_3512-830dupTTTTTTTTTTTTT	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(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp1 HG01192.hp1 others(20): Show HG00558.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp1 HG01934.hp2 HG02055.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG02965.hp1 HG03195.hp1 HG03225.hp2 NA18522.hp2 NA18959.hp1 NA19004.hp1 NA19030.hp2 NA19240.hp1 NA21309.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0003c0032 others(1): Show a0002c0002 a0003c0003 a0003c0032 a0005c0006	a0002c0002t0002 a0003c0003t0005 a0003c0003t0006 others(6): Show a0002c0002t0002 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0013 a0003c0032t0005 a0005c0006t0004 a0005c0006t0005 a0005c0006t0024	a0002c0002t0002g0048 a0002c0002t0002g0066 a0002c0002t0002g0105 others(17): Show a0002c0002t0002g0048 a0002c0002t0002g0066 a0002c0002t0002g0105 a0003c0003t0005g0274 a0003c0003t0006g0013 a0003c0003t0006g0181 a0003c0003t0006g0184 a0003c0003t0006g0259 a0003c0003t0006g0261 a0003c0003t0008g0017 a0003c0003t0008g0228 a0003c0003t0008g0236 a0003c0003t0013g0156 a0003c0032t0005g0272 a0005c0006t0004g0009 a0005c0006t0004g0121 a0005c0006t0004g0123 a0005c0006t0004g0154 a0005c0006t0005g0158 a0005c0006t0024g0124	23	302	0.0762	13	c.244 others(32): Show c.2448-3465_2448-3453dupTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	310	0.0032	13	c.295 others(30): Show c.2958+490_2958+502dupTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448396	C C	CTTTACTT others(6): Show CTTTACTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA20905.hp2 HG04204.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0152 a0001c0001t0007g0154 a0001c0001t0001g0152 a0001c0001t0007g0154	2	310	0.0065	13	c.289 others(32): Show c.2897-1753_2897-1752insAAAAAAAAGTAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448401	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02818.hp2 others(2): Show HG01099.hp2 HG02257.hp1 HG02818.hp2 HG03041.hp2 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0004 a0002c0005t0031 a0002c0007t0001 a0002c0005t0004 a0002c0005t0031 a0002c0007t0001	a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 others(2): Show a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0031g0307 a0002c0007t0001g0133	5	310	0.0161	13	c.289 others(32): Show c.2897-1770_2897-1758dupAAAAAAAAAAAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42576475	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0160 a0003c0006t0001g0160	1	310	0.0032	13	c.112 others(30): Show c.1129-789_1129-777dupTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	12/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465711	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp1 HG01358.hp2 others(3): Show HG00741.hp2 HG01074.hp1 HG01358.hp2 HG02257.hp1 HG02258.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0015 a0001c0002t0004 others(3): Show a0001c0001t0002 a0001c0001t0015 a0001c0002t0004 a0001c0002t0010 a0001c0002t0023 a0001c0003t0010	a0001c0001t0002g0079 a0001c0001t0015g0016 a0001c0002t0004g0056 others(3): Show a0001c0001t0002g0079 a0001c0001t0015g0016 a0001c0002t0004g0056 a0001c0002t0010g0118 a0001c0002t0023g0013 a0001c0003t0010g0026	6	122	0.0492	13	c.77- others(28): Show c.77-3263_77-3251dupTCTTTCTTTCTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531137	G G	GTGTATAT others(6): Show GTGTATATATATGT	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	13	c.420 others(28): Show c.420+478_420+479insGTATATATATGTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25531421	A A	ATTATATA others(6): Show ATTATATATATGAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03041.hp1 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0056 a0001c0010t0012 a0001c0010t0056	a0001c0010t0012g0091 a0001c0010t0056g0006 a0001c0010t0012g0091 a0001c0010t0056g0006	2	122	0.0164	13	c.420 others(28): Show c.420+762_420+763insTATATATATGATT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	4/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25720167	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02257.hp1 HG02723.hp1 others(4): Show HG01358.hp1 HG02257.hp1 HG02723.hp1 HG02809.hp2 HG03098.hp2 HG03195.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010	a0001c0001t0019 a0001c0002t0003 a0001c0003t0002 others(4): Show a0001c0001t0019 a0001c0002t0003 a0001c0003t0002 a0001c0003t0010 a0001c0005t0021 a0001c0005t0023 a0001c0010t0012	a0001c0001t0019g0004 a0001c0002t0003g0120 a0001c0003t0002g0108 others(4): Show a0001c0001t0019g0004 a0001c0002t0003g0120 a0001c0003t0002g0108 a0001c0003t0010g0026 a0001c0005t0021g0030 a0001c0005t0023g0002 a0001c0010t0012g0091	7	122	0.0574	13	c.238 others(34): Show c.2384+20828_2384+20840dupTTTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25891990	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp2 NA18906.hp2 HG02723.hp2 HG03453.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0030 a0001c0002t0028 a0001c0007t0007 a0001c0001t0030 a0001c0002t0028 a0001c0007t0007	a0001c0001t0030g0087 a0001c0002t0028g0014 a0001c0007t0007g0094 a0001c0001t0030g0087 a0001c0002t0028g0014 a0001c0007t0007g0094	3	122	0.0246	13	c.318 others(34): Show c.3183+29586_3183+29587insCTTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25937362	C C	CTTTCTTT others(6): Show CTTTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02976.hp1 others(1): Show HG02622.hp2 HG02896.hp1 HG02976.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0008 a0001c0001t0066 a0001c0002t0032 others(1): Show a0001c0001t0008 a0001c0001t0066 a0001c0002t0032 a0001c0005t0012	a0001c0001t0008g0073 a0001c0001t0066g0092 a0001c0002t0032g0023 others(1): Show a0001c0001t0008g0073 a0001c0001t0066g0092 a0001c0002t0032g0023 a0001c0005t0012g0020	4	122	0.0328	13	c.318 others(34): Show c.3184-24210_3184-24209insCTTTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648852	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	314	0.0032	13	c.353 others(30): Show c.3532-141_3532-140insCACACACACACAC	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57776038	A A	AAATCAAA others(6): Show AAATCAAAGGAGGC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA19054.hp1 NA18939.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0019 a0002c0002t0014 a0002c0002t0019	a0002c0002t0014g0274 a0002c0002t0019g0137 a0002c0002t0014g0274 a0002c0002t0019g0137	2	314	0.0064	13	c.-26 others(32): Show c.-26+26959_-26+26960insGCCTCCTTTGATT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1779100	T T	TTGACAAT others(6): Show TTGACAATTTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0096 a0001c0004t0003g0096	1	390	0.0026	13	c.39 others(24): Show c.3915_*3927dupGAGAAAATTGTCA	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding		2974		chr19	TogoVar
ATP8B4_chr15_49853238_50124233	49948809	C C	CCCATCAG others(6): Show CCCATCAGTCAATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp2 HG03139.hp2 HG01891.hp1 HG02451.hp2 HG03139.hp2	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0008c0008 a0012c0013 a0001c0001 a0008c0008 a0012c0013	a0001c0001t0010 a0008c0008t0017 a0012c0013t0010 a0001c0001t0010 a0008c0008t0017 a0012c0013t0010	a0001c0001t0010g0092 a0008c0008t0017g0025 a0012c0013t0010g0223 a0001c0001t0010g0092 a0008c0008t0017g0025 a0012c0013t0010g0223	3	254	0.0118	13	c.128 others(34): Show c.1287+13155_1287+13167dupAATTGACTGATGG	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	14/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	49961834	C C	CTATTTTT others(6): Show CTATTTTTTAATTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0132 a0002c0002t0001g0132	1	254	0.0039	13	c.128 others(30): Show c.1287+142_1287+143insTAATTAAAAAATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	14/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50114103	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19006.hp2 HG02080.hp2 NA19006.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0174 a0002c0002t0001g0173 a0001c0001t0001g0174 a0002c0002t0001g0173	2	254	0.0079	13	c.-43 others(30): Show c.-43+5007_-43+5019dupAAAAAAAAAAAAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	1/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51642726	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01993.hp1 HG03688.hp2 others(1): Show HG00639.hp1 HG01993.hp1 HG03688.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0012 a0001c0004t0004 a0001c0004t0009 others(1): Show a0001c0003t0012 a0001c0004t0004 a0001c0004t0009 a0001c0004t0071	a0001c0003t0012g0085 a0001c0004t0004g0089 a0001c0004t0009g0180 others(1): Show a0001c0003t0012g0085 a0001c0004t0004g0089 a0001c0004t0009g0180 a0001c0004t0071g0097	4	312	0.0128	13	c.150 others(32): Show c.1507-3235_1507-3223dupTTTTTTTTTTTTT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51658888	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02976.hp1 HG04199.hp2 others(1): Show HG01515.hp1 HG02976.hp1 HG04199.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0016 a0001c0003 a0001c0004 a0001c0016	a0001c0003t0007 a0001c0003t0079 a0001c0004t0004 others(1): Show a0001c0003t0007 a0001c0003t0079 a0001c0004t0004 a0001c0016t0010	a0001c0003t0007g0307 a0001c0003t0079g0312 a0001c0004t0004g0167 others(1): Show a0001c0003t0007g0307 a0001c0003t0079g0312 a0001c0004t0004g0167 a0001c0016t0010g0061	4	312	0.0128	13	c.129 others(32): Show c.1294-1751_1294-1739dupCCCCCCCCCCCCC	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	13/27			chr20	TogoVar

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