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
ATP2A2_chr12_110276247_110356093	110293826	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	228	0.0044	-14	c.324 others(31): Show c.324+1728_324+1741delGTGTGTGTGTGTGT	ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2A2_chr12_110276247_110356093	110309140	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0025 a0001c0001t0018g0025	1	228	0.0044	-14	c.463 others(33): Show c.463+12425_463+12438delTTTTTTTTTTTTTT	ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2A3_chr17_3918873_3969437	3936721	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0017 a0001c0042t0017	a0001c0042t0017g0315 a0001c0042t0017g0315	1	332	0.0030	-14	c.232 others(31): Show c.2322-266_2322-253delGTGTGTGTGTGTGT	ATP2A3	ENSG00000074370.18	transcript	ENST00000397041.8	protein_coding	15/20			chr17	TogoVar
ATP2B1_chr12_89583049_89713838	89583796	GGGGGGGG others(7): Show GGGGGGGGGGGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	332	0.0030	-14	c.71 others(25): Show c.7174_*7187delTCCCCCCCCCCCCC	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding		4252		chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89598120	AACTTGTC others(7): Show AACTTGTCTTCAGGC	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02293.hp2 HG02300.hp1 others(2): Show HG02015.hp2 HG02293.hp2 HG02300.hp1 NA18983.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0292 others(2): Show a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0305 a0001c0001t0001g0307	5	332	0.0151	-14	c.335 others(31): Show c.3351+983_3351+996delGCCTGAAGACAAGT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	20/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89628401	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03041.hp2 HG02602.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0118 a0001c0002t0001g0134 a0001c0002t0001g0118 a0001c0002t0001g0134	2	332	0.0060	-14	c.929 others(29): Show c.929-699_929-686delTTTTTTTTTTTTTT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	6/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677965	TATATATA others(7): Show TATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02055.hp2 HG01070.hp2 HG01071.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0187 a0001c0001t0001g0248 a0001c0001t0001g0249	3	332	0.0090	-14	c.-22 others(35): Show c.-221-21872_-221-21859delGTGTGTGTATATAT	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B4_chr1_203621832_203749081	203626272	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02071.hp2 HG02083.hp2 others(5): Show HG00438.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 NA18944.hp1 NA18959.hp1 NA19000.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0039 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0005g0008 a0001c0001t0006g0006 a0001c0001t0006g0007	8	318	0.0252	-14	c.-14 others(25): Show c.-1411_-1398delGTGTGTGTGTGTGT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		559		chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203672324	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG01169.hp1 HG01169.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0008 a0001c0001t0002 a0003c0007t0008	a0001c0001t0002g0295 a0003c0007t0008g0291 a0001c0001t0002g0295 a0003c0007t0008g0291	2	318	0.0063	-14	c.-46 others(35): Show c.-464-10399_-464-10386delTTTTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130902284	GTTTTTTT others(7): Show GTTTTTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(91): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02622.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18941.hp2 NA18943.hp1 NA18948.hp2 NA18961.hp1 NA18963.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(88): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0007g0178 a0001c0002t0001g0215 a0001c0002t0001g0231 a0001c0002t0001g0238 a0001c0002t0001g0355	94	382	0.2461	-14	c.6+7 others(27): Show c.6+7522_6+7535delGTTTTTTTTTTTTT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	130941223	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02280.hp2 HG02717.hp2 others(8): Show HG01243.hp2 HG02280.hp2 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 others(7): Show a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0357 a0001c0001t0001g0358	11	382	0.0288	-14	c.423 others(29): Show c.423-339_423-326delGTGTGTGTGTGTGT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C1_chr3_130889084_131008150	131006635	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01123.hp1 HG02293.hp2 others(11): Show HG00597.hp2 HG01123.hp1 HG02293.hp2 HG03491.hp2 HG03492.hp1 NA18968.hp1 NA18978.hp1 NA18984.hp1 NA18991.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0315 a0001c0002t0001g0324 a0001c0002t0001g0326 others(11): Show a0001c0002t0001g0315 a0001c0002t0001g0324 a0001c0002t0001g0326 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0333 a0001c0002t0001g0341 a0001c0002t0001g0343 a0001c0002t0001g0345 a0001c0002t0001g0348 a0001c0002t0001g0352 a0001c0002t0001g0353 a0001c0002t0001g0355 a0001c0002t0008g0327	14	382	0.0367	-14	c.52 others(25): Show c.5286_*5299delTGTGTGTGTGTGTG	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding		3486		chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84419208	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0234 a0002c0021t0001g0235 a0002c0021t0001g0234 a0002c0021t0001g0235	2	432	0.0046	-14	c.625 others(31): Show c.625-3165_625-3152delAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5F1A_chr18_46075248_46103296	46096374	CCTGTAAT others(7): Show CCTGTAATCCCAGCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0176 a0001c0001t0008g0176	1	390	0.0026	-14	c.61- others(29): Show c.61-1257_61-1244delAGCTGGGATTACAG	ATP5F1A	ENSG00000152234.16	transcript	ENST00000398752.11	protein_coding	1/11			chr18	TogoVar
ATP5F1C_chr10_7783177_7812801	7812508	GCCAAATA others(7): Show GCCAAATACGGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	420	0.0024	-14	c.48 others(25): Show c.4881_*4894delCCAAATACGGGACA	ATP5F1C	ENSG00000165629.20	transcript	ENST00000356708.12	protein_coding		4708		chr10	TogoVar
ATP5F1D_chr19_1236751_1249825	1237005	GCCTGGAC others(7): Show GCCTGGACGCTGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	412	0.0024	-14	c.-48 others(25): Show c.-4845_-4832delCCTGGACGCTGTGC	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		4745		chr19	TogoVar
ATP5MC1_chr17_48887787_48900871	48899295	CGGGGGGG others(7): Show CGGGGGGGGGGGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp1 others(79): Show HG00099.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp1 HG01517.hp1 HG01981.hp1 HG02004.hp1 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp1 NA18989.hp1 NA18991.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19082.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0009	82	334	0.2455	-14	c.35 others(25): Show c.3527_*3540delGGGGGGGGGGGGGG	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3425		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53667950	CACACACA others(7): Show CACACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	418	0.0024	-14	c.311 others(31): Show c.311+1184_311+1197delATATATATGTGTGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53667954	CACATATA others(7): Show CACATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG02559.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0150 a0001c0001t0001g0151	2	418	0.0048	-14	c.311 others(31): Show c.311+1180_311+1193delATATATATATATGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679238	CGAGAGAG others(7): Show CGAGAGAGAGAGAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA20805.hp1 NA19043.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0236 a0001c0001t0001g0068 a0001c0001t0001g0236	2	418	0.0048	-14	c.-32 others(25): Show c.-3231_-3218delTCTCTCTCTCTCTC	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		3156		chr12	TogoVar
ATP5MJ_chr14_103907288_103926529	103917826	AAGCTCCT others(7): Show AAGCTCCTATAAAGC	A A	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	440	0.0023	-14	c.1-2 others(27): Show c.1-2651_1-2638delGCTTTATAGGAGCT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	1/3			chr14	TogoVar
ATP5PF_chr21_25719500_25739904	25730736	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01884.hp2 others(16): Show HG00741.hp1 HG01070.hp2 HG01884.hp2 HG02145.hp1 HG02280.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03831.hp2 HG03942.hp1 HG06807.hp1 NA18959.hp1 NA18987.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0106 others(7): Show a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0106 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0002g0014 a0001c0001t0002g0022	19	416	0.0457	-14	c.-7- others(27): Show c.-7-949_-7-936delTTTTTTTTTTTTTT	ATP5PF	ENSG00000154723.13	transcript	ENST00000284971.8	protein_coding	1/3			chr21	TogoVar
ATP6V0A2_chr12_123707353_123766755	123708979	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0043 a0001c0001t0030g0043	1	222	0.0045	-14	c.-35 others(25): Show c.-3586_-3573delTTTTTTTTTTTTTT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		3373		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718277	GCGGTGTG others(7): Show GCGGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(72): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01891.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18989.hp2 NA18990.hp1 NA19000.hp1 NA19030.hp1 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19085.hp1 NA19090.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0014	a0001c0001 a0001c0005 a0001c0007 others(16): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0013 a0001c0029 a0002c0002 a0002c0003 a0002c0016 a0002c0019 a0002c0025 a0003c0004 a0003c0031 a0003c0033 a0003c0037 a0004c0015 a0005c0006 a0006c0009 a0014c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0001c0005t0002 a0001c0007t0001 a0001c0008t0001 a0001c0013t0001 a0001c0029t0001 a0002c0002t0001 a0002c0003t0001 a0002c0016t0001 a0002c0019t0004 a0002c0025t0001 a0003c0004t0001 a0003c0031t0006 a0003c0033t0004 a0003c0037t0009 a0004c0015t0001 a0005c0006t0005 a0006c0009t0001 a0014c0047t0001	a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0052 others(72): Show a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0126 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0270 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0304 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0338 a0001c0001t0002g0154 a0001c0001t0002g0297 a0001c0001t0003g0138 a0001c0001t0003g0327 a0001c0001t0003g0343 a0001c0001t0013g0372 a0001c0005t0002g0043 a0001c0007t0001g0310 a0001c0008t0001g0155 a0001c0013t0001g0103 a0001c0013t0001g0181 a0001c0013t0001g0206 a0001c0029t0001g0110 a0002c0002t0001g0001 a0002c0002t0001g0115 a0002c0002t0001g0141 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0208 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0296 a0002c0002t0001g0307 a0002c0003t0001g0066 a0002c0003t0001g0166 a0002c0003t0001g0287 a0002c0016t0001g0284 a0002c0019t0004g0107 a0002c0025t0001g0205 a0002c0025t0001g0286 a0003c0004t0001g0341 a0003c0031t0006g0344 a0003c0033t0004g0364 a0003c0037t0009g0345 a0004c0015t0001g0183 a0005c0006t0005g0069 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0258 a0006c0009t0001g0281 a0014c0047t0001g0257	75	376	0.1995	-14	c.214 others(33): Show c.2140-2410_2140-2397delACACACACACACCG	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718279	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01884.hp2 HG02257.hp1 others(15): Show HG00544.hp2 HG01884.hp2 HG02257.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp2 HG02886.hp1 HG02886.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03831.hp2 HG04184.hp2 NA18906.hp1 NA19002.hp2 NA19009.hp1 NA19060.hp1 NA19240.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0011	a0001c0001 a0001c0020 a0001c0035 others(5): Show a0001c0001 a0001c0020 a0001c0035 a0002c0002 a0003c0004 a0005c0006 a0007c0017 a0011c0028	a0001c0001t0001 a0001c0020t0007 a0001c0035t0001 others(5): Show a0001c0001t0001 a0001c0020t0007 a0001c0035t0001 a0002c0002t0001 a0003c0004t0002 a0005c0006t0001 a0007c0017t0001 a0011c0028t0001	a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0075 others(15): Show a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0075 a0001c0001t0001g0174 a0001c0001t0001g0263 a0001c0001t0001g0326 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0020t0007g0373 a0001c0035t0001g0025 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0109 a0002c0002t0001g0351 a0003c0004t0002g0354 a0005c0006t0001g0031 a0007c0017t0001g0353 a0011c0028t0001g0059	18	376	0.0479	-14	c.214 others(33): Show c.2140-2412_2140-2399delACACACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138758739	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	376	0.0027	-14	c.639 others(30): Show c.639+999_639+1012delAAAAAAAAAAAAAA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	8/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138792772	TTTTTTGT others(7): Show TTTTTTGTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(150): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18962.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19006.hp2 NA19011.hp1 NA19056.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19079.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0014	a0001c0001 a0001c0005 a0001c0007 others(26): Show a0001c0001 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0013 a0001c0020 a0001c0023 a0001c0030 a0002c0002 a0002c0003 a0002c0016 a0002c0019 a0002c0025 a0002c0046 a0003c0004 a0003c0022 a0003c0031 a0003c0033 a0003c0036 a0004c0011 a0004c0015 a0004c0018 a0005c0006 a0006c0009 a0007c0017 a0008c0024 a0011c0028 a0014c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0007t0001 a0001c0008t0001 a0001c0010t0002 a0001c0013t0001 a0001c0020t0001 a0001c0020t0007 a0001c0023t0001 a0001c0030t0001 a0002c0002t0001 a0002c0002t0003 a0002c0003t0001 a0002c0016t0001 a0002c0019t0001 a0002c0019t0003 a0002c0025t0001 a0002c0046t0001 a0003c0004t0001 a0003c0004t0011 a0003c0022t0001 a0003c0022t0003 a0003c0031t0006 a0003c0033t0004 a0003c0036t0001 a0004c0011t0001 a0004c0015t0001 a0004c0018t0001 a0005c0006t0001 a0006c0009t0001 a0007c0017t0001 a0007c0017t0002 a0008c0024t0002 a0011c0028t0001 a0014c0047t0001	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0058 others(150): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0201 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0299 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0342 a0001c0001t0001g0355 a0001c0001t0001g0357 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0002g0200 a0001c0001t0002g0241 a0001c0001t0002g0297 a0001c0001t0002g0331 a0001c0001t0003g0327 a0001c0001t0003g0343 a0001c0001t0004g0352 a0001c0001t0007g0374 a0001c0001t0007g0375 a0001c0001t0012g0370 a0001c0001t0013g0372 a0001c0005t0001g0032 a0001c0005t0001g0230 a0001c0005t0001g0231 a0001c0005t0001g0232 a0001c0005t0003g0274 a0001c0005t0004g0356 a0001c0007t0001g0055 a0001c0007t0001g0310 a0001c0007t0001g0318 a0001c0007t0001g0321 a0001c0007t0001g0333 a0001c0008t0001g0234 a0001c0008t0001g0235 a0001c0010t0002g0362 a0001c0013t0001g0206 a0001c0013t0001g0366 a0001c0020t0001g0036 a0001c0020t0007g0373 a0001c0023t0001g0350 a0001c0030t0001g0204 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0227 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0247 a0002c0002t0001g0256 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0283 a0002c0002t0001g0285 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0307 a0002c0002t0001g0312 a0002c0002t0001g0351 a0002c0002t0001g0360 a0002c0002t0001g0369 a0002c0002t0003g0239 a0002c0003t0001g0240 a0002c0003t0001g0287 a0002c0003t0001g0300 a0002c0003t0001g0316 a0002c0003t0001g0329 a0002c0016t0001g0284 a0002c0019t0001g0236 a0002c0019t0003g0279 a0002c0025t0001g0205 a0002c0025t0001g0286 a0002c0046t0001g0367 a0003c0004t0001g0105 a0003c0004t0001g0212 a0003c0004t0001g0226 a0003c0004t0001g0298 a0003c0004t0001g0341 a0003c0004t0011g0371 a0003c0022t0001g0289 a0003c0022t0003g0216 a0003c0031t0006g0344 a0003c0033t0004g0364 a0003c0036t0001g0046 a0004c0011t0001g0060 a0004c0011t0001g0273 a0004c0015t0001g0358 a0004c0018t0001g0026 a0004c0018t0001g0280 a0005c0006t0001g0053 a0005c0006t0001g0054 a0005c0006t0001g0276 a0005c0006t0001g0301 a0005c0006t0001g0302 a0005c0006t0001g0303 a0005c0006t0001g0332 a0006c0009t0001g0202 a0006c0009t0001g0222 a0006c0009t0001g0223 a0006c0009t0001g0224 a0006c0009t0001g0258 a0006c0009t0001g0281 a0007c0017t0001g0311 a0007c0017t0001g0353 a0007c0017t0002g0323 a0008c0024t0002g0324 a0008c0024t0002g0325 a0011c0028t0001g0059 a0014c0047t0001g0257	153	376	0.4069	-14	c.-12 others(33): Show c.-121+5248_-121+5261delCAAAACAACAAAAA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	1/21			chr7	TogoVar
ATP6V0D1_chr16_67433019_67486157	67433715	CACACACA others(7): Show CACACACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03098.hp2 HG02809.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0048 a0001c0001t0006g0039 a0001c0001t0002g0048 a0001c0001t0006g0039	2	174	0.0115	-14	c.47 others(25): Show c.4799_*4812delATGTGTGTGTGTGT	ATP6V0D1	ENSG00000159720.13	transcript	ENST00000290949.8	protein_coding		4303		chr16	TogoVar
ATP6V0D1_chr16_67433019_67486157	67466326	TACACACA others(7): Show TACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02735.hp2 HG02083.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0079 a0001c0001t0001g0053 a0001c0001t0001g0079	2	174	0.0115	-14	c.131 others(33): Show c.131-12625_131-12612delGTGTGTGTGTGTGT	ATP6V0D1	ENSG00000159720.13	transcript	ENST00000290949.8	protein_coding	1/7			chr16	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	CTATATAT others(7): Show CTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	360	0.0028	-14	c.302 others(33): Show c.302+12370_302+12383delATATATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	AAGAGAGA others(7): Show AAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02897.hp1 NA18955.hp2 HG01070.hp2 HG02897.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0162 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0162	3	360	0.0083	-14	c.639 others(31): Show c.639+2291_639+2304delGAGAGAGAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86158645	TTTAACTG others(7): Show TTTAACTGTGTCTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02145.hp1 HG02886.hp1 others(3): Show HG01081.hp2 HG02145.hp1 HG02886.hp1 HG02895.hp2 HG03471.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0004 a0004c0007t0004 a0001c0001t0004 a0004c0007t0004	a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 others(3): Show a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0117 a0004c0007t0004g0006	6	360	0.0167	-14	c.56 others(25): Show c.5669_*5682delTTAACTGTGTCTTA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding		4421		chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70940899	TTCTTTTT others(7): Show TTCTTTTTCTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0122 a0001c0005t0001g0122	1	440	0.0023	-14	c.119 others(31): Show c.119-2757_119-2744delCTTTTTCTTTTTCT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	GATATATA others(7): Show GATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp2 NA18906.hp1 others(1): Show HG02559.hp1 HG02559.hp2 NA18906.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0010 a0001c0001 a0001c0005 a0002c0010	a0001c0001t0001 a0001c0005t0001 a0002c0010t0002 a0001c0001t0001 a0001c0005t0001 a0002c0010t0002	a0001c0001t0001g0125 a0001c0005t0001g0119 a0002c0010t0002g0362 others(1): Show a0001c0001t0001g0125 a0001c0005t0001g0119 a0002c0010t0002g0362 a0002c0010t0002g0363	4	440	0.0091	-14	c.174 others(31): Show c.174+2016_174+2029delTATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1C1_chr8_103016083_103078051	103065756	ATGGTAAG others(7): Show ATGGTAAGCCAGGCG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	412	0.0024	-14	c.927 others(29): Show c.927-560_927-547delAAGCCAGGCGTGGT	ATP6V1C1	ENSG00000155097.12	transcript	ENST00000518738.2	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10725304	ATTTGGGA others(7): Show ATTTGGGAGGCTGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03139.hp2 HG01109.hp2 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0025 a0002c0002t0024 a0002c0002t0025	a0002c0002t0024g0235 a0002c0002t0025g0236 a0002c0002t0024g0235 a0002c0002t0025g0236	2	354	0.0057	-14	c.130 others(31): Show c.130-1197_130-1184delTTTGGGAGGCTGAG	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	2/13			chr2	TogoVar
ATP6V1C2_chr2_10716630_10790110	10782829	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG02896.hp2 others(3): Show HG01261.hp1 HG01884.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0007 a0002c0002t0004 a0002c0002t0007 others(1): Show a0001c0001t0007 a0002c0002t0004 a0002c0002t0007 a0002c0003t0004	a0001c0001t0007g0088 a0002c0002t0004g0107 a0002c0002t0007g0106 others(3): Show a0001c0001t0007g0088 a0002c0002t0004g0107 a0002c0002t0007g0106 a0002c0002t0007g0223 a0002c0002t0007g0232 a0002c0003t0004g0074	6	354	0.0170	-14	c.119 others(31): Show c.1195-324_1195-311delAAAAAAAAAAAAAA	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631662	GTGTGTGT others(7): Show GTGTGTGTGTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03688.hp2 HG01109.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0319 a0001c0001t0004g0223 a0001c0001t0003g0319 a0001c0001t0004g0223	2	370	0.0054	-14	c.-30 others(25): Show c.-3041_-3028delTATATACACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2914		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631664	GTGTGTGT others(7): Show GTGTGTGTATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0235 a0001c0001t0002g0230 a0001c0001t0002g0235	2	370	0.0054	-14	c.-30 others(25): Show c.-3043_-3030delTATATATACACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2916		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	GTATATAT others(7): Show GTATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01934.hp2 HG02004.hp1 others(2): Show HG01496.hp2 HG01934.hp2 HG02004.hp1 HG02148.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0080	5	370	0.0135	-14	c.-30 others(25): Show c.-3049_-3036delTATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631706	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	370	0.0027	-14	c.-30 others(25): Show c.-3085_-3072delAAAAAAAAAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2958		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46510475	AAAAAAAA others(7): Show AAAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 NA19240.hp1 HG02572.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0243 a0001c0001t0003g0158 a0001c0001t0002g0243 a0001c0001t0003g0158	2	410	0.0049	-14	c.15 others(25): Show c.1542_*1555delCTTTTTTTTTTTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		1371		chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02897.hp1 HG03540.hp2 others(1): Show HG02630.hp2 HG02897.hp1 HG03540.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0214 a0001c0001t0003g0165 a0001c0001t0003g0179 others(1): Show a0001c0001t0002g0214 a0001c0001t0003g0165 a0001c0001t0003g0179 a0001c0001t0003g0185	4	410	0.0098	-14	c.-10 others(33): Show c.-101-5692_-101-5679delGTGTGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	410	0.0024	-14	c.-10 others(33): Show c.-101-5960_-101-5947delCACACACACACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46533079	ATATATAT others(7): Show ATATATATCTAACAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG00639.hp1 others(80): Show HG00280.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG03710.hp1 HG04228.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp1 NA18981.hp1 NA18987.hp2 NA18991.hp1 NA18998.hp1 NA19003.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19057.hp1 NA19070.hp1 NA19077.hp2 NA19083.hp1 NA19089.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0008t0002	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(74): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0099 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0002g0019 a0001c0001t0002g0063 a0001c0001t0002g0093 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0003g0098 a0001c0001t0003g0127 a0001c0001t0003g0165 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0006g0018 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0195 a0001c0008t0002g0292	83	410	0.2024	-14	c.-10 others(33): Show c.-102+2720_-102+2733delATGTTAGATATATA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46540613	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01081.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	2	410	0.0049	-14	c.-31 others(31): Show c.-310+763_-310+776delAAAAAAAAAAAAAA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	2/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546462	ATATATAT others(7): Show ATATATATATATGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02698.hp2 HG02818.hp1 others(4): Show HG01516.hp1 HG02698.hp2 HG02818.hp1 HG03654.hp2 HG03710.hp1 HG03834.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0079 a0001c0001t0002g0295 a0001c0001t0003g0141 others(4): Show a0001c0001t0001g0079 a0001c0001t0002g0295 a0001c0001t0003g0141 a0001c0001t0003g0145 a0001c0001t0003g0166 a0001c0001t0003g0174 a0001c0001t0005g0171	7	410	0.0171	-14	c.-46 others(25): Show c.-4633_-4620delCACATATATATATA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3886		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755685	CATATATA others(7): Show CATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02055.hp1 HG06807.hp1 HG00609.hp1 HG02055.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0081 a0001c0001t0001g0243 a0001c0001t0002g0256 a0001c0001t0001g0081 a0001c0001t0001g0243 a0001c0001t0002g0256	3	286	0.0105	-14	c.127 others(31): Show c.1277+856_1277+869delATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755732	ATATATAT others(7): Show ATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	286	0.0035	-14	c.127 others(31): Show c.1277+809_1277+822delAATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765454	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02155.hp2 HG02896.hp1 others(1): Show HG00621.hp1 HG02155.hp2 HG02896.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0010 a0001c0001t0002g0086 a0001c0001t0002g0124 others(1): Show a0001c0001t0001g0010 a0001c0001t0002g0086 a0001c0001t0002g0124 a0001c0001t0002g0149	4	286	0.0140	-14	c.117 others(33): Show c.1175+4150_1175+4163delGTGTGTGTGTGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar

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