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
ATOSA_chr15_52576321_52684388	52672172	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0191 a0006c0006t0004g0191	1	362	0.0028	22	c.16+ others(37): Show c.16+5812_16+5833dupTTTTTTTTTTTTTTTTTTTTTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25789565	A A	AGTGTGTG others(15): Show AGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG03017.hp2 others(1): Show HG02280.hp2 HG02818.hp1 HG03017.hp2 NA18906.hp2	a0004 a0008 a0018 others(1): Show a0004 a0008 a0018 a0048	a0004c0004 a0008c0006 a0018c0021 others(1): Show a0004c0004 a0008c0006 a0018c0021 a0048c0039	a0004c0004t0002 a0008c0006t0001 a0018c0021t0001 others(1): Show a0004c0004t0002 a0008c0006t0001 a0018c0021t0001 a0048c0039t0001	a0004c0004t0002g0295 a0008c0006t0001g0174 a0018c0021t0001g0198 others(1): Show a0004c0004t0002g0295 a0008c0006t0001g0174 a0018c0021t0001g0198 a0048c0039t0001g0176	4	300	0.0133	22	c.450 others(39): Show c.450-8364_450-8343dupACACACACACACACACACACAC	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	1/20			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02155.hp1 HG02818.hp2 HG02145.hp1 HG02155.hp1 HG02818.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0018 a0001c0002 a0009c0018	a0001c0002t0044 a0009c0018t0021 a0009c0018t0034 a0001c0002t0044 a0009c0018t0021 a0009c0018t0034	a0001c0002t0044g0039 a0009c0018t0021g0205 a0009c0018t0034g0207 a0001c0002t0044g0039 a0009c0018t0021g0205 a0009c0018t0034g0207	3	236	0.0127	22	c.-20 others(43): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112803961	C C	CCTCCTTC others(15): Show CCTCCTTCACCTCCCTCCCCCCA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0001 a0003c0047t0001	a0003c0047t0001g0038 a0003c0047t0001g0038	1	254	0.0039	22	c.163 others(37): Show c.163-996_163-995insCTCCTTCACCTCCCTCCCCCCA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29			chr13	TogoVar
ATP11A_chr13_112685038_112892168	112811161	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0149 a0001c0004t0003g0149	1	254	0.0039	22	c.441 others(37): Show c.441+459_441+480dupCACACACACACACACACACACA	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139769281	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA18982.hp1 HG02698.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0159 a0001c0001t0002g0180 a0001c0001t0001g0159 a0001c0001t0002g0180	2	234	0.0086	22	c.221 others(39): Show c.2217-869_2217-848dupATATATATATATATATATATAT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	19/29			chrX	TogoVar
ATP11C_chrX_139721348_139938053	139866343	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	234	0.0043	22	c.28- others(39): Show c.28-39542_28-39521dupTTTTTTTTTTTTTTTTTTTTTT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP11C_chrX_139721348_139938053	139922223	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0039 a0001c0003t0002g0039	1	234	0.0043	22	c.27+ others(37): Show c.27+9771_27+9792dupATATATATATATATATATATAT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP12A_chr13_24675408_24717472	24682392	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGCGCGCACGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02083.hp1 others(10): Show HG00639.hp2 HG01243.hp1 HG02083.hp1 HG02257.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG03471.hp2 HG03831.hp2 HG03834.hp1 NA18959.hp2 NA18969.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0014 others(1): Show a0001c0001 a0001c0003 a0001c0014 a0002c0011	a0001c0001t0004 a0001c0003t0002 a0001c0003t0004 others(2): Show a0001c0001t0004 a0001c0003t0002 a0001c0003t0004 a0001c0014t0004 a0002c0011t0010	a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 others(9): Show a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0003t0002g0036 a0001c0003t0002g0317 a0001c0003t0002g0318 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0003t0004g0316 a0001c0003t0004g0319 a0001c0014t0004g0315 a0002c0011t0010g0331	13	382	0.0340	22	c.168 others(37): Show c.168+680_168+681insGTGCGCGCACGTGTGTGTGTGT	ATP12A	ENSG00000075673.12	transcript	ENST00000381946.5	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP13A4_chr3_193393967_193559895	193504020	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0277 a0003c0005t0003g0277	1	302	0.0033	22	c.235 others(39): Show c.235-1382_235-1381insTCACACACACACACACACACAC	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	2/29			chr3	TogoVar
ATP13A4_chr3_193393967_193559895	193541248	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0301	1	302	0.0033	22	c.60+ others(39): Show c.60+13470_60+13491dupTTTTTTTTTTTTTTTTTTTTTT	ATP13A4	ENSG00000127249.15	transcript	ENST00000342695.9	protein_coding	1/29			chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0104 a0001c0001t0006g0104	1	408	0.0025	22	c.-23 others(33): Show c.-2364_-2363insAAAAAAAAAAAAAAAAAAAAAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP1B3_chr3_141871643_141931549	141874438	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	408	0.0025	22	c.-23 others(33): Show c.-2364_-2363insAAATATATATATATATATATAT	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		2204		chr3	TogoVar
ATP2A2_chr12_110276247_110356093	110333890	A A	AAATGGCC others(15): Show AAATGGCCTTACAGTGTTGTAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG00738.hp1 HG01069.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0220 a0001c0005t0009g0221 a0001c0005t0009g0220 a0001c0005t0009g0221	2	228	0.0088	22	c.128 others(38): Show c.1288-120_1288-99dupATGGCCTTACAGTGTTGTAATA	ATP2A2	ENSG00000174437.18	transcript	ENST00000539276.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	332	0.0030	22	c.-22 others(43): Show c.-221-21848_-221-21847insTATATATATATATATATATATA	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B1_chr12_89583049_89713838	89677954	T T	TTATATAT others(15): Show TTATATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18950.hp1 NA18979.hp1 others(1): Show HG03041.hp2 NA18950.hp1 NA18979.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0006g0056 others(1): Show a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0006g0056 a0001c0002t0001g0118	4	332	0.0121	22	c.-22 others(43): Show c.-221-21848_-221-21847insTATATATACATATATATATATA	ATP2B1	ENSG00000070961.17	transcript	ENST00000428670.8	protein_coding	1/20			chr12	TogoVar
ATP2B4_chr1_203621832_203749081	203686685	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18970.hp1 NA19004.hp2 NA18962.hp2 NA18970.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0004g0168 a0001c0001t0005g0115 a0001c0001t0011g0236 a0001c0001t0004g0168 a0001c0001t0005g0115 a0001c0001t0011g0236	3	318	0.0094	22	c.193 others(39): Show c.193+3292_193+3313dupTTTTTTTTTTTTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203723457	T T	TCTCTCTC others(15): Show TCTCTCTCTCTCTCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG02615.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0055 a0001c0001t0022 a0001c0001t0055	a0001c0001t0022g0136 a0001c0001t0055g0022 a0001c0001t0022g0136 a0001c0001t0055g0022	2	318	0.0063	22	c.302 others(39): Show c.3025-421_3025-420insTCTCTCTCTCTCTCCCTCCCTC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203744827	T T	TACACACA others(15): Show TACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA21309.hp2 HG02280.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0022 a0001c0001 a0007c0022	a0001c0001t0050 a0007c0022t0035 a0001c0001t0050 a0007c0022t0035	a0001c0001t0050g0310 a0007c0022t0035g0064 a0001c0001t0050g0310 a0007c0022t0035g0064	2	318	0.0063	22	c.49 others(33): Show c.4973_*4974insACACACACACACACACACACAC	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		747		chr1	TogoVar
ATP2C2_chr16_84363538_84469187	84383735	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG04184.hp2 NA19083.hp1 HG01258.hp1 HG04184.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0008 a0001c0002 a0001c0009 a0002c0008	a0001c0002t0001 a0001c0009t0001 a0002c0008t0001 a0001c0002t0001 a0001c0009t0001 a0002c0008t0001	a0001c0002t0001g0009 a0001c0009t0001g0125 a0002c0008t0001g0126 a0001c0002t0001g0009 a0001c0009t0001g0125 a0002c0008t0001g0126	3	432	0.0069	22	c.100 others(41): Show c.100-14749_100-14748insGTGTGTGTGTGTGTGTGTGTGT	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG01884.hp1 others(7): Show HG00544.hp1 HG00544.hp2 HG01884.hp1 HG02970.hp2 HG03139.hp2 NA18966.hp1 NA18973.hp1 NA18973.hp2 NA18987.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0069 others(3): Show a0001c0001 a0001c0005 a0001c0069 a0002c0007 a0002c0016 a0002c0050	a0001c0001t0002 a0001c0005t0001 a0001c0005t0003 others(5): Show a0001c0001t0002 a0001c0005t0001 a0001c0005t0003 a0001c0069t0001 a0002c0007t0001 a0002c0007t0003 a0002c0016t0002 a0002c0050t0002	a0001c0001t0002g0216 a0001c0001t0002g0312 a0001c0001t0002g0361 others(7): Show a0001c0001t0002g0216 a0001c0001t0002g0312 a0001c0001t0002g0361 a0001c0005t0001g0085 a0001c0005t0003g0364 a0001c0069t0001g0037 a0002c0007t0001g0371 a0002c0007t0003g0196 a0002c0016t0002g0305 a0002c0050t0002g0232	10	432	0.0232	22	c.100 others(37): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03704.hp1 HG02886.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0003 a0001c0001t0002g0004 a0001c0001t0003g0003	2	334	0.0060	22	c.32 others(33): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53667956	C C	CACATATA others(15): Show CACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03654.hp1 NA18946.hp1 others(5): Show HG00639.hp2 HG03654.hp1 NA18946.hp1 NA18950.hp1 NA18960.hp2 NA18982.hp1 NA18994.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0164 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0164 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0001g0235	8	418	0.0191	22	c.311 others(39): Show c.311+1191_311+1192insATATATATATATATATATATGT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	4/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00609.hp1 others(9): Show HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG01258.hp1 HG02523.hp1 HG04228.hp2 NA18955.hp2 NA18991.hp1 NA18993.hp2 NA19007.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0099 a0001c0001t0001g0003 a0001c0001t0001g0072 a0001c0001t0001g0099	12	418	0.0287	22	c.39+ others(35): Show c.39+471_39+492dupTTTTTTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MC2_chr12_53660170_53681083	53679238	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	418	0.0024	22	c.-32 others(33): Show c.-3218_-3217insTCTCTCTCTCTCTCTCTCTCTC	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding		3156		chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 NA18973.hp2 NA18995.hp1 others(1): Show HG00558.hp1 NA18973.hp2 NA18995.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0002g0000 a0001c0001t0006g0000	4	374	0.0107	22	c.12 others(33): Show c.1222_*1243dupTTTTTTTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MJ_chr14_103907288_103926529	103914837	C C	CAAAAAGG others(15): Show CAAAAAGGAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	440	0.0023	22	c.124 others(37): Show c.124+228_124+229insTTTTTTTTTTTTTTTCCTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar
ATP5PB_chr1_111444464_111467773	111457312	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0053 a0001c0002t0004g0053	1	434	0.0023	22	c.513 others(37): Show c.513+565_513+586dupCACACACACACACACACACACA	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01934.hp2 HG02559.hp1 others(1): Show HG00621.hp2 HG01934.hp2 HG02559.hp1 HG03017.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0014 a0001c0002t0002 a0002c0004t0007 a0001c0001t0014 a0001c0002t0002 a0002c0004t0007	a0001c0001t0014g0148 a0001c0002t0002g0162 a0001c0002t0002g0171 others(1): Show a0001c0001t0014g0148 a0001c0002t0002g0162 a0001c0002t0002g0171 a0002c0004t0007g0180	4	222	0.0180	22	c.-51 others(31): Show c.-511_-510insCACACACACACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707068	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG00738.hp1 others(11): Show HG00544.hp1 HG00733.hp2 HG00738.hp1 HG02027.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02818.hp2 NA18966.hp1 NA18983.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0010 a0001c0013 others(7): Show a0001c0001 a0001c0010 a0001c0013 a0001c0014 a0002c0002 a0002c0027 a0003c0004 a0004c0011 a0005c0006 a0007c0017	a0001c0001t0001 a0001c0001t0008 a0001c0010t0004 others(9): Show a0001c0001t0001 a0001c0001t0008 a0001c0010t0004 a0001c0013t0001 a0001c0014t0001 a0002c0002t0001 a0002c0002t0004 a0002c0027t0001 a0003c0004t0008 a0004c0011t0001 a0005c0006t0001 a0007c0017t0001	a0001c0001t0001g0211 a0001c0001t0008g0061 a0001c0010t0004g0171 others(11): Show a0001c0001t0001g0211 a0001c0001t0008g0061 a0001c0010t0004g0171 a0001c0013t0001g0206 a0001c0014t0001g0267 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0369 a0002c0002t0004g0116 a0002c0027t0001g0005 a0003c0004t0008g0068 a0004c0011t0001g0273 a0005c0006t0001g0276 a0007c0017t0001g0353	14	376	0.0372	22	c.243 others(39): Show c.2430-373_2430-352dupCACACACACACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718290	G G	GGAGGGAG others(15): Show GGAGGGAGACGTCCAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02818.hp1 others(5): Show HG02280.hp2 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG03453.hp1 HG03579.hp2 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0001c0014 others(3): Show a0001c0001 a0001c0005 a0001c0014 a0003c0036 a0004c0018 a0004c0041	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0014t0004 a0003c0036t0001 a0004c0018t0002 a0004c0041t0004	a0001c0001t0001g0027 a0001c0005t0001g0032 a0001c0005t0004g0356 others(5): Show a0001c0001t0001g0027 a0001c0005t0001g0032 a0001c0005t0004g0356 a0001c0005t0005g0067 a0001c0014t0004g0095 a0003c0036t0001g0046 a0004c0018t0002g0096 a0004c0041t0004g0006	8	376	0.0213	22	c.214 others(41): Show c.2140-2410_2140-2409insTTCCTTCCTGGACGTCTCCCTC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0206 a0001c0013t0001g0206	1	376	0.0027	22	c.157 others(41): Show c.1572+2424_1572+2425insATATATATATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 HG02145.hp2 HG03139.hp2	a0001 a0001	a0001c0010 a0001c0023 a0001c0010 a0001c0023	a0001c0010t0002 a0001c0023t0001 a0001c0010t0002 a0001c0023t0001	a0001c0010t0002g0035 a0001c0023t0001g0350 a0001c0010t0002g0035 a0001c0023t0001g0350	2	376	0.0053	22	c.132 others(39): Show c.1321-379_1321-378insTTTTTTTTTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00733.hp2 others(27): Show HG00408.hp1 HG00438.hp2 HG00733.hp2 HG00735.hp2 HG01081.hp2 HG01175.hp2 HG01258.hp1 HG01433.hp2 HG01515.hp1 HG01943.hp2 HG02257.hp1 HG02723.hp1 HG02735.hp1 HG02976.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18906.hp2 NA18956.hp2 NA18961.hp1 NA18972.hp1 NA19062.hp1 NA19072.hp1 NA19072.hp2 NA19084.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0074 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0187 a0001c0001t0001g0318 a0001c0001t0001g0333 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0356 a0001c0001t0002g0100 a0001c0001t0002g0188 a0001c0001t0003g0231 a0001c0001t0004g0113 a0001c0001t0004g0114	30	360	0.0833	22	c.302 others(41): Show c.302+12362_302+12383dupATATATATATATATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126250	A A	ATATATAT others(15): Show ATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0274 a0001c0001t0003g0274	1	360	0.0028	22	c.302 others(41): Show c.302+12383_302+12384insATATATATCTATATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp2 HG02895.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0121 a0001c0001t0001g0027 a0001c0001t0001g0121	2	440	0.0046	22	c.114 others(39): Show c.1144-323_1144-302dupTTTTTTTTTTTTTTTTTTTTTT	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(15): Show TAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0249 a0003c0004t0001g0249	1	440	0.0023	22	c.42 others(31): Show c.427_*428insAAAAAAAAAAAAAAAAAAAAAA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		118		chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0104 a0002c0003t0001g0104	1	370	0.0027	22	c.-30 others(33): Show c.-3057_-3036dupTATATATATATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02109.hp1 HG02723.hp2 others(1): Show HG01081.hp1 HG02109.hp1 HG02723.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0196 a0001c0001t0007g0014 a0001c0001t0007g0196	4	410	0.0098	22	c.-10 others(41): Show c.-101-5700_-101-5679dupGTGTGTGTGTGTGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0009 a0003c0003t0009	a0003c0003t0009g0248 a0003c0003t0009g0248	1	302	0.0033	22	c.244 others(41): Show c.2448-3453_2448-3452insTTTTTTTTTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp2 HG01123.hp2 others(6): Show HG00099.hp1 HG01106.hp2 HG01123.hp2 HG01433.hp2 HG02129.hp1 NA18953.hp1 NA18980.hp2 NA18990.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0003t0005 a0001c0001t0001 a0001c0001t0005 a0001c0003t0005	a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0094 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0005g0255 a0001c0001t0005g0265 a0001c0003t0005g0227	9	310	0.0290	22	c.295 others(39): Show c.2958+502_2958+503insTTTTTTTTTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0174 a0001c0001t0002g0175	2	310	0.0065	22	c.50- others(37): Show c.50-8672_50-8671insATATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACACA others(15): Show CACACACATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0287 a0001c0003t0009g0287	1	310	0.0032	22	c.50- others(37): Show c.50-8674_50-8673insATATATATATATATATGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACACATA others(15): Show CACACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0038 a0001c0001t0029g0036 a0001c0001t0002g0038 a0001c0001t0029g0036	2	310	0.0065	22	c.50- others(37): Show c.50-8674_50-8673insATATATATATATATATATGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACATATA others(15): Show CACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0068 a0001c0002t0004g0068	1	310	0.0032	22	c.50- others(37): Show c.50-8674_50-8673insATATATATATATATATATATGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03017.hp1 NA18941.hp1 others(3): Show HG00099.hp1 HG03017.hp1 NA18941.hp1 NA18978.hp1 NA18980.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0002g0090 a0001c0001t0003g0266	6	310	0.0194	22	c.50- others(37): Show c.50-8695_50-8674dupATATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635810	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0208 a0001c0001t0006g0300 a0001c0001t0005g0208 a0001c0001t0006g0300	2	310	0.0065	22	c.50- others(37): Show c.50-8702_50-8701insGTATATATATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636156	A A	ACACACAC others(15): Show ACACACACGCGCGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02897.hp2 others(1): Show HG01167.hp2 HG01169.hp2 HG02897.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0004g0031 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0004g0031 a0001c0001t0004g0076	4	310	0.0129	22	c.50- others(37): Show c.50-9048_50-9047insCGCGCGCGCACGCGCGTGTGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25506940	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18952.hp1 NA19004.hp1 HG01358.hp1 NA18952.hp1 NA19004.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0007 a0001c0003t0009 a0001c0005t0021 a0001c0003t0007 a0001c0003t0009 a0001c0005t0021	a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0005t0021g0030 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0005t0021g0030	3	122	0.0246	22	c.222 others(41): Show c.222-23058_222-23037dupATATATATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25889245	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG06807.hp2 HG00741.hp2 HG01261.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0001 a0001c0002t0004 a0001c0001t0042 a0001c0002t0001 a0001c0002t0004	a0001c0001t0042g0059 a0001c0002t0001g0039 a0001c0002t0004g0056 a0001c0001t0042g0059 a0001c0002t0001g0039 a0001c0002t0004g0056	3	122	0.0246	22	c.318 others(43): Show c.3183+26845_3183+26866dupTATATATATATATATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar

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