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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ATP6V1C1_chr8_103016083_103078051	103052745	T T	C C	synonymous_variant synonymous_variant	LOW	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0062 a0001c0004t0005g0062	1	412	0.0024	c.396 others(3): Show c.396T>C	p.Ile others(6): Show p.Ile132Ile	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	6/13	578/5635	396/1149	132/382	chr8	TogoVar
ATP6V1C1_chr8_103016083_103078051	103052775	A A	C C	synonymous_variant synonymous_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0066 a0001c0006t0004g0066	1	412	0.0024	c.426 others(3): Show c.426A>C	p.Ala others(6): Show p.Ala142Ala	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	6/13	608/5635	426/1149	142/382	chr8	TogoVar
ATP6V1C1_chr8_103016083_103078051	103066342	C C	T T	synonymous_variant synonymous_variant	LOW	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0034 a0001c0005t0034	a0001c0005t0034g0237 a0001c0005t0034g0237	1	412	0.0024	c.948 others(3): Show c.948C>T	p.Phe others(6): Show p.Phe316Phe	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	12/13	1130/5635	948/1149	316/382	chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10722930	C C	T T	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG02809.hp1 HG02559.hp1 HG02809.hp1	a0002 a0007 a0002 a0007	a0002c0018 a0007c0017 a0002c0018 a0007c0017	a0002c0018t0013 a0007c0017t0001 a0002c0018t0013 a0007c0017t0001	a0002c0018t0013g0217 a0007c0017t0001g0216 a0002c0018t0013g0217 a0007c0017t0001g0216	2	354	0.0057	c.81C others(2): Show c.81C>T	p.Ser others(5): Show p.Ser27Ser	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	2/14	209/3259	81/1284	27/427	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10726528	C C	T T	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG02280.hp1 HG02895.hp1 others(4): Show HG00639.hp1 HG02280.hp1 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03130.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0016 a0002c0005 a0002c0009 a0001c0016 a0002c0005 a0002c0009	a0001c0016t0001 a0002c0005t0001 a0002c0005t0003 others(3): Show a0001c0016t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0008 a0002c0009t0004 a0002c0009t0022	a0001c0016t0001g0156 a0002c0005t0001g0116 a0002c0005t0003g0154 others(4): Show a0001c0016t0001g0156 a0002c0005t0001g0116 a0002c0005t0003g0154 a0002c0005t0003g0159 a0002c0005t0008g0158 a0002c0009t0004g0157 a0002c0009t0022g0155	7	354	0.0198	c.156 others(3): Show c.156C>T	p.Gly others(5): Show p.Gly52Gly	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	3/14	284/3259	156/1284	52/427	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10754062	C C	T T	synonymous_variant synonymous_variant	LOW	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0006 a0001c0015t0006	a0001c0015t0006g0247 a0001c0015t0006g0247	1	354	0.0028	c.279 others(3): Show c.279C>T	p.Asn others(5): Show p.Asn93Asn	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	4/14	407/3259	279/1284	93/427	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10764398	C C	T T	synonymous_variant synonymous_variant	LOW	HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0009 a0002c0007t0009	a0002c0007t0009g0028 a0002c0007t0009g0029 a0002c0007t0009g0151 a0002c0007t0009g0028 a0002c0007t0009g0029 a0002c0007t0009g0151	3	354	0.0085	c.351 others(3): Show c.351C>T	p.Leu others(6): Show p.Leu117Leu	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	5/14	479/3259	351/1284	117/427	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10772593	G G	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00597.hp2 HG00639.hp1 others(26): Show HG00323.hp2 HG00597.hp2 HG00639.hp1 HG00733.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp2 HG02074.hp1 HG02257.hp2 HG02602.hp1 HG02630.hp1 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG03098.hp2 HG03209.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp2 NA18943.hp1 NA18975.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0002c0009 a0003c0008 a0002c0003 a0002c0009 a0003c0008	a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 others(3): Show a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0009t0004 a0002c0009t0022 a0003c0008t0003	a0002c0003t0002g0009 a0002c0003t0002g0063 a0002c0003t0002g0068 others(26): Show a0002c0003t0002g0009 a0002c0003t0002g0063 a0002c0003t0002g0068 a0002c0003t0002g0082 a0002c0003t0002g0084 a0002c0003t0002g0086 a0002c0003t0002g0093 a0002c0003t0002g0118 a0002c0003t0002g0121 a0002c0003t0002g0126 a0002c0003t0002g0127 a0002c0003t0002g0129 a0002c0003t0002g0142 a0002c0003t0002g0148 a0002c0003t0002g0273 a0002c0003t0002g0277 a0002c0003t0002g0312 a0002c0003t0004g0058 a0002c0003t0004g0074 a0002c0003t0004g0077 a0002c0003t0004g0125 a0002c0003t0004g0135 a0002c0003t0004g0152 a0002c0003t0012g0160 a0002c0003t0012g0230 a0002c0009t0004g0157 a0002c0009t0022g0155 a0003c0008t0003g0122 a0003c0008t0003g0146	29	354	0.0819	c.621 others(3): Show c.621G>A	p.Val others(6): Show p.Val207Val	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	8/14	749/3259	621/1284	207/427	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10777602	T T	C C	synonymous_variant synonymous_variant	LOW	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0139 a0002c0013t0001g0139	1	354	0.0028	c.843 others(3): Show c.843T>C	p.Ala others(6): Show p.Ala281Ala	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	11/14	971/3259	843/1284	281/427	chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10783227	T T	C C	synonymous_variant synonymous_variant	LOW	HG01099.hp1 HG01433.hp2 HG01934.hp2 others(13): Show HG01099.hp1 HG01433.hp2 HG01934.hp2 HG02698.hp1 HG02735.hp2 HG03195.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 NA19030.hp2 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0006 a0002c0004 a0004c0011 a0001c0006 a0002c0004 a0004c0011	a0001c0006t0005 a0002c0004t0005 a0004c0011t0017 a0001c0006t0005 a0002c0004t0005 a0004c0011t0017	a0001c0006t0005g0042 a0001c0006t0005g0308 a0001c0006t0005g0337 others(13): Show a0001c0006t0005g0042 a0001c0006t0005g0308 a0001c0006t0005g0337 a0002c0004t0005g0045 a0002c0004t0005g0046 a0002c0004t0005g0085 a0002c0004t0005g0095 a0002c0004t0005g0109 a0002c0004t0005g0137 a0002c0004t0005g0140 a0002c0004t0005g0143 a0002c0004t0005g0162 a0002c0004t0005g0177 a0002c0004t0005g0285 a0002c0004t0005g0327 a0004c0011t0017g0149	16	354	0.0452	c.124 others(4): Show c.1248T>C	p.Tyr others(6): Show p.Tyr416Tyr	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	14/14	1376/3259	1248/1284	416/427	chr2	TogoVar
ATP6V1D_chr14_67332872_67364804	67349044	A A	G G	synonymous_variant synonymous_variant	LOW	HG00609.hp2 NA18947.hp1 NA18975.hp2 others(6): Show HG00609.hp2 NA18947.hp1 NA18975.hp2 NA18991.hp1 NA19004.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0182 a0001c0002t0001g0183 others(1): Show a0001c0002t0001g0007 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0186	9	348	0.0259	c.300 others(3): Show c.300T>C	p.Asn others(6): Show p.Asn100Asn	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	4/9	406/1599	300/744	100/247	chr14	TogoVar
ATP6V1D_chr14_67332872_67364804	67349074	C C	A A	synonymous_variant synonymous_variant	LOW	HG02080.hp2 NA18973.hp2 HG02080.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0111 a0001c0003t0001g0140 a0001c0003t0001g0111 a0001c0003t0001g0140	2	348	0.0058	c.270 others(3): Show c.270G>T	p.Ala others(5): Show p.Ala90Ala	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	4/9	376/1599	270/744	90/247	chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17594568	G G	A A	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01891.hp2 HG02258.hp2 others(9): Show HG01243.hp2 HG01891.hp2 HG02258.hp2 HG02622.hp2 HG02965.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0009 a0001c0002t0006 a0001c0002t0009	a0001c0002t0006g0019 a0001c0002t0006g0042 a0001c0002t0006g0043 others(8): Show a0001c0002t0006g0019 a0001c0002t0006g0042 a0001c0002t0006g0043 a0001c0002t0006g0044 a0001c0002t0006g0046 a0001c0002t0006g0180 a0001c0002t0006g0182 a0001c0002t0009g0204 a0001c0002t0009g0224 a0001c0002t0009g0225 a0001c0002t0009g0285	12	370	0.0324	c.579 others(3): Show c.579C>T	p.Ser others(6): Show p.Ser193Ser	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	8/9	693/1333	579/681	193/226	chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17598196	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02683.hp2 NA19240.hp1 HG02683.hp2 NA19240.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0003 a0001c0005t0001 a0001c0005t0003	a0001c0005t0001g0054 a0001c0005t0003g0307 a0001c0005t0001g0054 a0001c0005t0003g0307	2	370	0.0054	c.528 others(3): Show c.528C>T	p.Asp others(6): Show p.Asp176Asp	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	7/9	642/1333	528/681	176/226	chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17612851	C C	T T	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0304 a0001c0006t0012g0304	1	370	0.0027	c.237 others(3): Show c.237G>A	p.Ala others(5): Show p.Ala79Ala	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/9	351/1333	237/681	79/226	chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17613228	A A	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp1 HG02080.hp1 HG02165.hp2 HG00597.hp1 HG02080.hp1 HG02165.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0049 a0001c0004t0001g0088 a0001c0004t0001g0089	3	370	0.0081	c.192 others(3): Show c.192T>A	p.Ile others(5): Show p.Ile64Ile	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	3/9	306/1333	192/681	64/226	chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46512349	G G	A A	synonymous_variant synonymous_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0292 a0001c0008t0002g0292	1	410	0.0024	c.363 others(3): Show c.363C>T	p.Leu others(6): Show p.Leu121Leu	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	5/5	1097/1599	363/681	121/226	chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46512544	A A	G G	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG01175.hp2 HG02109.hp2 others(7): Show HG01109.hp2 HG01175.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp2 HG02896.hp2 HG02897.hp2 HG03130.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0030 a0001c0002t0002g0212 a0001c0002t0002g0213 others(6): Show a0001c0002t0002g0030 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307	10	410	0.0244	c.168 others(3): Show c.168T>C	p.Tyr others(5): Show p.Tyr56Tyr	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	5/5	902/1599	168/681	56/226	chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46512691	A A	G G	synonymous_variant synonymous_variant	LOW	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0270 a0001c0005t0001g0270	1	410	0.0024	c.21T others(2): Show c.21T>C	p.Asp others(4): Show p.Asp7Asp	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	5/5	755/1599	21/681	7/226	chr2	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128866436	G G	A A	synonymous_variant synonymous_variant	LOW	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0003 a0001c0006t0003g0003	1	442	0.0023	c.27G others(2): Show c.27G>A	p.Ala others(4): Show p.Ala9Ala	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/2	107/3883	27/531	9/176	chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128866575	C C	T T	synonymous_variant synonymous_variant	LOW	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0008 a0001c0012t0001g0008	1	442	0.0023	c.166 others(3): Show c.166C>T	p.Leu others(5): Show p.Leu56Leu	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/2	246/3883	166/531	56/176	chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128866604	A A	C C	synonymous_variant synonymous_variant	LOW	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0021 a0001c0010t0021	a0001c0010t0021g0030 a0001c0010t0021g0030	1	442	0.0023	c.195 others(3): Show c.195A>C	p.Pro others(5): Show p.Pro65Pro	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/2	275/3883	195/531	65/176	chr7	TogoVar
ATP6V1FNB_chr7_128861330_128877047	128866664	G G	A A	synonymous_variant synonymous_variant	LOW	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0001 a0001c0008t0001g0001	1	442	0.0023	c.255 others(3): Show c.255G>A	p.Gln others(5): Show p.Gln85Gln	ATP6V1FNB	ENSG00000272899.4	transcript	ENST00000609480.4	protein_coding	1/2	335/3883	255/531	85/176	chr7	TogoVar
ATP6V1F_chr7_128857856_128870847	128863018	G G	T T	synonymous_variant synonymous_variant	LOW	HG02056.hp1 HG02129.hp2 HG03239.hp1 others(12): Show HG02056.hp1 HG02129.hp2 HG03239.hp1 HG04184.hp1 HG04199.hp2 NA18940.hp2 NA18946.hp1 NA18954.hp1 NA18971.hp2 NA18978.hp2 NA19003.hp1 NA19062.hp2 NA19065.hp1 NA19077.hp2 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0038 a0001c0002t0001g0006 a0001c0002t0001g0038	15	442	0.0339	c.114 others(3): Show c.114G>T	p.Val others(5): Show p.Val38Val	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding	1/2	163/678	114/360	38/119	chr7	TogoVar
ATP6V1G3_chr1_198518222_198545680	198523556	G G	T T	synonymous_variant synonymous_variant	LOW	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0081 a0001c0004t0001g0081	1	405	0.0025	c.192 others(3): Show c.192C>A	p.Gly others(5): Show p.Gly64Gly	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	3/3	222/556	192/357	64/118	chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53801876	G G	A A	synonymous_variant synonymous_variant	LOW	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0281 a0001c0006t0001g0281	1	286	0.0035	c.600 others(3): Show c.600C>T	p.Cys others(6): Show p.Cys200Cys	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	8/14	847/2120	600/1452	200/483	chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53814674	C C	T T	synonymous_variant synonymous_variant	LOW	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	286	0.0035	c.513 others(3): Show c.513G>A	p.Gln others(6): Show p.Gln171Gln	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	6/14	760/2120	513/1452	171/483	chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53841655	A A	T T	synonymous_variant synonymous_variant	LOW	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	286	0.0035	c.36T others(2): Show c.36T>A	p.Ala others(5): Show p.Ala12Ala	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	2/14	283/2120	36/1452	12/483	chr8	TogoVar
ATP7A_chrX_77905693_78055395	77989486	T T	C C	synonymous_variant synonymous_variant	LOW	NA18954.hp2 NA18984.hp1 NA18954.hp2 NA18984.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0158 a0001c0005t0001g0159 a0001c0005t0001g0158 a0001c0005t0001g0159	2	233	0.0086	c.864 others(3): Show c.864T>C	p.Cys others(6): Show p.Cys288Cys	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	4/23	1028/8492	864/4503	288/1500	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78011208	G G	A A	synonymous_variant synonymous_variant	LOW	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0177 a0001c0008t0001g0177	1	233	0.0043	c.190 others(4): Show c.1902G>A	p.Lys others(6): Show p.Lys634Lys	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	8/23	2066/8492	1902/4503	634/1500	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78038945	G G	A A	synonymous_variant synonymous_variant	LOW	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0005 a0001c0014t0005	a0001c0014t0005g0146 a0001c0014t0005g0146	1	233	0.0043	c.362 others(4): Show c.3621G>A	p.Glu others(7): Show p.Glu1207Glu	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	18/23	3785/8492	3621/4503	1207/1500	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51934759	G G	T T	synonymous_variant synonymous_variant	LOW	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0161 a0001c0028t0001g0161	1	302	0.0033	c.439 others(4): Show c.4395C>A	p.Ile others(7): Show p.Ile1465Ile	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	21/21	4508/6598	4395/4398	1465/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51934843	C C	T T	synonymous_variant synonymous_variant	LOW	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0101 a0002c0019t0002g0101	1	302	0.0033	c.431 others(4): Show c.4311G>A	p.Lys others(7): Show p.Lys1437Lys	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	21/21	4424/6598	4311/4398	1437/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51934852	C C	T T	synonymous_variant synonymous_variant	LOW	HG01074.hp1 HG01891.hp2 HG02896.hp1 others(1): Show HG01074.hp1 HG01891.hp2 HG02896.hp1 HG02965.hp2	a0005 a0005	a0005c0012 a0005c0026 a0005c0012 a0005c0026	a0005c0012t0001 a0005c0012t0003 a0005c0026t0004 a0005c0012t0001 a0005c0012t0003 a0005c0026t0004	a0005c0012t0001g0176 a0005c0012t0003g0128 a0005c0012t0003g0129 others(1): Show a0005c0012t0001g0176 a0005c0012t0003g0128 a0005c0012t0003g0129 a0005c0026t0004g0120	4	302	0.0133	c.430 others(4): Show c.4302G>A	p.Thr others(7): Show p.Thr1434Thr	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	21/21	4415/6598	4302/4398	1434/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51934903	T T	C C	synonymous_variant synonymous_variant	LOW	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0002 a0002c0020t0002	a0002c0020t0002g0051 a0002c0020t0002g0051	1	302	0.0033	c.425 others(4): Show c.4251A>G	p.Thr others(7): Show p.Thr1417Thr	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	21/21	4364/6598	4251/4398	1417/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51937488	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0005 a0003c0015t0005	a0003c0015t0005g0268 a0003c0015t0005g0273 a0003c0015t0005g0268 a0003c0015t0005g0273	2	302	0.0066	c.389 others(4): Show c.3891C>T	p.Val others(7): Show p.Val1297Val	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	18/21	4004/6598	3891/4398	1297/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51942432	T T	C C	synonymous_variant synonymous_variant	LOW	HG01074.hp1 HG01891.hp2 HG02965.hp2 HG01074.hp1 HG01891.hp2 HG02965.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0003 a0005c0012t0001 a0005c0012t0003	a0005c0012t0001g0176 a0005c0012t0003g0128 a0005c0012t0003g0129 a0005c0012t0001g0176 a0005c0012t0003g0128 a0005c0012t0003g0129	3	302	0.0099	c.336 others(4): Show c.3366A>G	p.Ala others(7): Show p.Ala1122Ala	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	15/21	3479/6598	3366/4398	1122/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51946299	C C	T T	synonymous_variant synonymous_variant	LOW	HG01168.hp1 HG02683.hp1 HG01168.hp1 HG02683.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0002 a0002c0014t0002	a0002c0014t0002g0049 a0002c0014t0002g0052 a0002c0014t0002g0049 a0002c0014t0002g0052	2	302	0.0066	c.304 others(4): Show c.3045G>A	p.Leu others(7): Show p.Leu1015Leu	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	13/21	3158/6598	3045/4398	1015/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51946329	G G	A A	synonymous_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0005 a0017c0033t0005	a0017c0033t0005g0240 a0017c0033t0005g0240	1	302	0.0033	c.301 others(4): Show c.3015C>T	p.Asn others(7): Show p.Asn1005Asn	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	13/21	3128/6598	3015/4398	1005/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51946335	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp1 HG00544.hp2 HG01099.hp1 others(11): Show HG00323.hp1 HG00544.hp2 HG01099.hp1 HG02602.hp1 HG02738.hp2 HG03017.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG06807.hp1 NA19003.hp2 NA19080.hp2 NA19082.hp1 NA20905.hp2	a0002 a0003 a0002 a0003	a0002c0011 a0003c0005 a0002c0011 a0003c0005	a0002c0011t0010 a0002c0011t0018 a0003c0005t0004 others(3): Show a0002c0011t0010 a0002c0011t0018 a0003c0005t0004 a0003c0005t0005 a0003c0005t0010 a0003c0005t0012	a0002c0011t0010g0080 a0002c0011t0010g0082 a0002c0011t0018g0035 others(11): Show a0002c0011t0010g0080 a0002c0011t0010g0082 a0002c0011t0018g0035 a0003c0005t0004g0022 a0003c0005t0004g0023 a0003c0005t0004g0024 a0003c0005t0004g0025 a0003c0005t0004g0026 a0003c0005t0004g0029 a0003c0005t0004g0074 a0003c0005t0005g0253 a0003c0005t0010g0020 a0003c0005t0012g0021 a0003c0005t0012g0058	14	302	0.0464	c.300 others(4): Show c.3009G>A	p.Ala others(7): Show p.Ala1003Ala	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	13/21	3122/6598	3009/4398	1003/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51946338	G G	A A	synonymous_variant synonymous_variant	LOW	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0172 a0001c0030t0001g0172	1	302	0.0033	c.300 others(4): Show c.3006C>T	p.Ala others(7): Show p.Ala1002Ala	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	13/21	3119/6598	3006/4398	1002/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51946365	C C	T T	synonymous_variant synonymous_variant	LOW	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0005 a0003c0032t0005	a0003c0032t0005g0272 a0003c0032t0005g0272	1	302	0.0033	c.297 others(4): Show c.2979G>A	p.Thr others(6): Show p.Thr993Thr	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	13/21	3092/6598	2979/4398	993/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51946371	C C	T T	synonymous_variant synonymous_variant	LOW	HG03017.hp1 HG03490.hp2 HG03654.hp2 others(1): Show HG03017.hp1 HG03490.hp2 HG03654.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0217 a0001c0009t0001g0218 a0001c0009t0001g0219 others(1): Show a0001c0009t0001g0217 a0001c0009t0001g0218 a0001c0009t0001g0219 a0001c0009t0001g0220	4	302	0.0133	c.297 others(4): Show c.2973G>A	p.Thr others(6): Show p.Thr991Thr	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	13/21	3086/6598	2973/4398	991/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51950154	G G	A A	synonymous_variant synonymous_variant	LOW	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0201 a0001c0031t0001g0201	1	302	0.0033	c.258 others(4): Show c.2583C>T	p.Ala others(6): Show p.Ala861Ala	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	11/21	2696/6598	2583/4398	861/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51950363	G G	A A	synonymous_variant synonymous_variant	LOW	HG03490.hp1 HG03492.hp2 HG03710.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0011 a0001c0013t0001g0189 a0001c0013t0001g0011 a0001c0013t0001g0189	3	302	0.0099	c.248 others(4): Show c.2484C>T	p.Gly others(6): Show p.Gly828Gly	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	10/21	2597/6598	2484/4398	828/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51964911	C C	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0003 a0001c0025t0003	a0001c0025t0003g0147 a0001c0025t0003g0147	1	302	0.0033	c.183 others(4): Show c.1830G>A	p.Pro others(6): Show p.Pro610Pro	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	5/21	1943/6598	1830/4398	610/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51968531	G G	A A	synonymous_variant synonymous_variant	LOW	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0002 a0002c0023t0002	a0002c0023t0002g0089 a0002c0023t0002g0089	1	302	0.0033	c.162 others(4): Show c.1620C>T	p.Leu others(6): Show p.Leu540Leu	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	4/21	1733/6598	1620/4398	540/1465	chr13	TogoVar
ATP7B_chr13_51927669_52016450	51974227	G G	A A	synonymous_variant synonymous_variant	LOW	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0034 a0003c0034	a0003c0034t0005 a0003c0034t0005	a0003c0034t0005g0279 a0003c0034t0005g0279	1	302	0.0033	c.993 others(3): Show c.993C>T	p.Ala others(6): Show p.Ala331Ala	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	2/21	1106/6598	993/4398	331/1465	chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42414670	G G	A A	synonymous_variant synonymous_variant	LOW	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0006 a0001c0008t0006	a0001c0008t0006g0198 a0001c0008t0006g0198	1	310	0.0032	c.335 others(4): Show c.3354C>T	p.His others(7): Show p.His1118His	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	36/37	3586/8270	3354/3495	1118/1164	chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42455528	G G	A A	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG00423.hp2 HG01070.hp1 others(49): Show HG00408.hp2 HG00423.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01167.hp1 HG01255.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp2 HG01978.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA19030.hp2 NA19086.hp2 NA20129.hp1 NA20300.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0005c0010 a0001c0002 a0001c0004 a0005c0010	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(18): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0016 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0002t0026 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0020 a0005c0010t0014	a0001c0002t0002g0029 a0001c0002t0002g0163 a0001c0002t0003g0188 others(49): Show a0001c0002t0002g0029 a0001c0002t0002g0163 a0001c0002t0003g0188 a0001c0002t0004g0013 a0001c0002t0004g0016 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0024 a0001c0002t0004g0030 a0001c0002t0004g0033 a0001c0002t0004g0035 a0001c0002t0004g0068 a0001c0002t0004g0109 a0001c0002t0004g0131 a0001c0002t0005g0189 a0001c0002t0005g0191 a0001c0002t0007g0096 a0001c0002t0007g0097 a0001c0002t0008g0166 a0001c0002t0008g0167 a0001c0002t0009g0185 a0001c0002t0010g0225 a0001c0002t0010g0260 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0013g0108 a0001c0002t0014g0194 a0001c0002t0014g0276 a0001c0002t0016g0026 a0001c0002t0016g0032 a0001c0002t0020g0111 a0001c0002t0022g0001 a0001c0002t0023g0008 a0001c0002t0026g0012 a0001c0004t0003g0297 a0001c0004t0004g0099 a0001c0004t0004g0110 a0001c0004t0004g0134 a0001c0004t0004g0140 a0001c0004t0005g0306 a0001c0004t0010g0184 a0001c0004t0010g0283 a0001c0004t0010g0285 a0001c0004t0010g0286 a0001c0004t0010g0292 a0001c0004t0010g0295 a0001c0004t0010g0299 a0001c0004t0020g0028 a0005c0010t0014g0277	52	310	0.1677	c.269 others(4): Show c.2691C>T	p.Asn others(6): Show p.Asn897Asn	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	28/37	2923/8270	2691/3495	897/1164	chr4	TogoVar

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