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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ATP5MF_chr7_99453195_99471167	99470599	A A	AATGTGGG others(7): Show AATGTGGGGAGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	346	0.0029	14	c.-44 others(25): Show c.-4459_-4458insCTCCCTCCCCACAT	ATP5MF	ENSG00000241468.8	transcript	ENST00000292475.8	protein_coding		4433		chr7	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01433.hp2 HG02258.hp2 others(10): Show HG00140.hp2 HG01433.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02809.hp1 HG02970.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 others(2): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0017 a0001c0001t0023	a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0010g0000 others(2): Show a0001c0001t0004g0000 a0001c0001t0007g0000 a0001c0001t0010g0000 a0001c0001t0017g0000 a0001c0001t0023g0000	13	374	0.0348	14	c.12 others(25): Show c.1230_*1243dupTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MJ_chr14_103907288_103926529	103916051	T T	TAATGCCA others(7): Show TAATGCCAGGCTCAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	440	0.0023	14	c.1-8 others(25): Show c.1-876_1-863dupCTGAGCCTGGCATT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	1/3			chr14	TogoVar
ATP5MJ_chr14_103907288_103926529	103925043	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	440	0.0023	14	c.-35 others(25): Show c.-3588_-3575dupAAAAAAAAAAAAAA	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding		3515		chr14	TogoVar
ATP5PB_chr1_111444464_111467773	111457312	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02809.hp2 HG01099.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0115 a0001c0001t0012g0116 a0001c0001t0005g0115 a0001c0001t0012g0116	2	434	0.0046	14	c.513 others(29): Show c.513+573_513+586dupCACACACACACACA	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5PF_chr21_25719500_25739904	25730736	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	416	0.0024	14	c.-7- others(27): Show c.-7-949_-7-936dupTTTTTTTTTTTTTT	ATP5PF	ENSG00000154723.13	transcript	ENST00000284971.8	protein_coding	1/3			chr21	TogoVar
ATP5PO_chr21_33898453_33920804	33905918	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA19075.hp2 NA18943.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	436	0.0046	14	c.441 others(31): Show c.441+1409_441+1422dupTTTTTTTTTTTTTT	ATP5PO	ENSG00000241837.7	transcript	ENST00000290299.7	protein_coding	5/6			chr21	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712055	T T	TCACACAC others(7): Show TCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02257.hp1 HG02922.hp1 others(2): Show HG00733.hp2 HG02257.hp1 HG02922.hp1 NA18522.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0002 a0001c0002t0015	a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0002g0168 others(2): Show a0001c0002t0002g0164 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0174 a0001c0002t0015g0156	5	222	0.0225	14	c.-51 others(23): Show c.-511_-510insCACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		297		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712059	T T	TCACACAC others(7): Show TCACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0039 a0001c0003t0039	a0001c0003t0039g0132 a0001c0003t0039g0132	1	222	0.0045	14	c.-50 others(23): Show c.-507_-506insCACACACACACACA	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		293		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123712076	C C	CACACACA others(7): Show CACACACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0145	1	222	0.0045	14	c.-49 others(23): Show c.-490_-489insACACACACACACAT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding		276		chr12	TogoVar
ATP6V0A2_chr12_123707353_123766755	123729322	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(84): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03927.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18960.hp2 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18995.hp1 NA19005.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19086.hp1 NA19089.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0009	a0001c0001 a0001c0006 a0001c0011 others(3): Show a0001c0001 a0001c0006 a0001c0011 a0005c0015 a0008c0010 a0009c0009	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(13): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0006t0011 a0001c0006t0038 a0001c0011t0008 a0005c0015t0023 a0008c0010t0001 a0009c0009t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(69): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0008g0001 a0001c0001t0008g0009 a0001c0001t0014g0016 a0001c0001t0014g0148 a0001c0001t0019g0193 a0001c0001t0021g0055 a0001c0001t0025g0079 a0001c0001t0026g0011 a0001c0001t0028g0060 a0001c0001t0031g0113 a0001c0001t0032g0076 a0001c0006t0011g0184 a0001c0006t0038g0133 a0001c0011t0008g0101 a0005c0015t0023g0075 a0008c0010t0001g0061 a0009c0009t0008g0105	87	222	0.3919	14	c.648 others(31): Show c.648+1424_648+1425insTTTTTTTTTTTTTT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138707068	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01891.hp2 others(7): Show HG01167.hp2 HG01169.hp1 HG01891.hp2 HG02055.hp1 HG02886.hp1 HG03225.hp1 NA18522.hp2 NA18612.hp2 NA18971.hp1 NA18999.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0001c0020 a0003c0004 others(2): Show a0001c0001 a0001c0020 a0003c0004 a0007c0017 a0008c0024	a0001c0001t0001 a0001c0001t0002 a0001c0020t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0020t0001 a0003c0004t0002 a0003c0004t0005 a0007c0017t0001 a0008c0024t0002	a0001c0001t0001g0078 a0001c0001t0001g0176 a0001c0001t0001g0315 others(7): Show a0001c0001t0001g0078 a0001c0001t0001g0176 a0001c0001t0001g0315 a0001c0001t0002g0331 a0001c0020t0001g0036 a0003c0004t0002g0354 a0003c0004t0005g0038 a0007c0017t0001g0311 a0008c0024t0002g0324 a0008c0024t0002g0325	10	376	0.0266	14	c.243 others(31): Show c.2430-365_2430-352dupCACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718201	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG02145.hp2 HG01109.hp2 HG01167.hp2 HG02145.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0010 a0008c0024 a0001c0001 a0001c0010 a0008c0024	a0001c0001t0001 a0001c0010t0002 a0008c0024t0002 a0001c0001t0001 a0001c0010t0002 a0008c0024t0002	a0001c0001t0001g0142 a0001c0010t0002g0035 a0008c0024t0002g0324 a0001c0001t0001g0142 a0001c0010t0002g0035 a0008c0024t0002g0324	3	376	0.0080	14	c.214 others(33): Show c.2140-2334_2140-2321dupACACACACACACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745658	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0009 a0001 a0009	a0001c0029 a0009c0042 a0001c0029 a0009c0042	a0001c0029t0001 a0009c0042t0001 a0001c0029t0001 a0009c0042t0001	a0001c0029t0001g0110 a0009c0042t0001g0111 a0001c0029t0001g0110 a0009c0042t0001g0111	2	376	0.0053	14	c.132 others(31): Show c.1321-379_1321-378insTTTTTTTTTTTTTT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138745960	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0004 a0004c0041t0004	a0004c0041t0004g0006 a0004c0041t0004g0006	1	376	0.0027	14	c.132 others(31): Show c.1321-681_1321-680insATATATATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	13/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138774639	T T	TTATATAT others(7): Show TTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	376	0.0027	14	c.-17 others(31): Show c.-17-3376_-17-3375insGTATATAATATATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784277	T T	TACATATA others(7): Show TACATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0348 a0001c0005t0001g0348	1	376	0.0027	14	c.-18 others(31): Show c.-18+1880_-18+1881insGTATATATATATGT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0B_chr1_43969960_43983295	43974140	A A	AGAGAAGG others(7): Show AGAGAAGGCCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA19065.hp1 NA18952.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	396	0.0051	14	c.-90 others(23): Show c.-901_-900insGAGAAGGCCTTTTC	ATP6V0B	ENSG00000117410.14	transcript	ENST00000472174.7	protein_coding		819		chr1	TogoVar
ATP6V0C_chr16_2508952_2525218	2516391	C C	CATGAGCC others(7): Show CATGAGCCACCATGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	336	0.0030	14	c.79+ others(29): Show c.79+2210_79+2223dupATGAGCCACCATGA	ATP6V0C	ENSG00000185883.12	transcript	ENST00000330398.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP6V0D2_chr8_86093910_86159225	86104850	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01175.hp1 others(25): Show HG00408.hp1 HG00558.hp1 HG01175.hp1 HG01358.hp1 HG01975.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02630.hp1 HG03490.hp1 HG04204.hp1 NA18940.hp1 NA18964.hp2 NA18969.hp1 NA18972.hp1 NA18998.hp1 NA19005.hp2 NA19056.hp1 NA19062.hp1 NA19072.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(23): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0110 a0001c0001t0001g0354 a0001c0001t0001g0356	28	360	0.0778	14	c.130 others(31): Show c.130+5758_130+5771dupCACACACACACACA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(7): Show CTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG00621.hp2 others(22): Show HG00438.hp1 HG00544.hp1 HG00621.hp2 HG01070.hp2 HG01346.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG02027.hp1 HG02293.hp1 HG02523.hp2 HG02615.hp2 HG02738.hp1 HG03130.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18942.hp1 NA18952.hp2 NA18961.hp2 NA18970.hp1 NA19068.hp2 NA19074.hp2 NA19086.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0009 a0001c0001 a0002c0002 a0005c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0005c0009t0001	a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0118 others(22): Show a0001c0001t0001g0025 a0001c0001t0001g0042 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0157 a0001c0001t0001g0176 a0001c0001t0001g0195 a0001c0001t0001g0201 a0001c0001t0001g0323 a0001c0001t0001g0332 a0001c0001t0003g0191 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0273 a0001c0001t0007g0137 a0002c0002t0001g0328 a0005c0009t0001g0200	25	360	0.0694	14	c.302 others(33): Show c.302+12370_302+12383dupATATATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126252	A A	ATATATAT others(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	360	0.0028	14	c.302 others(33): Show c.302+12383_302+12384insATGTATATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19054.hp1 NA19012.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0242 a0001c0001t0002g0243	2	360	0.0056	14	c.639 others(31): Show c.639+2282_639+2283insAAGAAAGAAAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145233	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	360	0.0028	14	c.639 others(31): Show c.639+2282_639+2283insAAGAAAGAGAGAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145255	G G	GAGAGAGA others(7): Show GAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	360	0.0028	14	c.639 others(31): Show c.639+2304_639+2305insGAGAGAAAGAAAGA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	440	0.0023	14	c.174 others(31): Show c.174+1987_174+1988insTATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GAGAGATA others(7): Show GAGAGATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	440	0.0023	14	c.174 others(31): Show c.174+1989_174+1990insGAGATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	440	0.0023	14	c.174 others(31): Show c.174+2016_174+2029dupTATATATATATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	440	0.0023	14	c.114 others(31): Show c.1144-315_1144-302dupTTTTTTTTTTTTTT	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(7): Show TAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG02109.hp2 others(7): Show HG00735.hp1 HG01167.hp2 HG02109.hp2 HG02280.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03130.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0004 a0001c0001 a0002c0006 a0003c0004	a0001c0001t0001 a0002c0006t0001 a0003c0004t0001 a0001c0001t0001 a0002c0006t0001 a0003c0004t0001	a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0043 a0002c0006t0001g0269 a0002c0006t0001g0398 a0003c0004t0001g0210 a0003c0004t0001g0264 a0003c0004t0001g0265	10	440	0.0227	14	c.42 others(23): Show c.427_*428insAAAAAAAAAAAAAA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding		118		chr2	TogoVar
ATP6V1D_chr14_67332872_67364804	67351911	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00544.hp2 others(114): Show HG00323.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG06807.hp1 NA18522.hp1 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18963.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19059.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19075.hp2 NA19080.hp2 NA19082.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 others(60): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106	117	348	0.3362	14	c.159 others(31): Show c.159+1011_159+1012insTTTTTTTTTTTTTT	ATP6V1D	ENSG00000100554.12	transcript	ENST00000216442.12	protein_coding	2/8			chr14	TogoVar
ATP6V1E1_chr22_17587136_17633749	17629818	T T	TACACACA others(7): Show TACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02895.hp1 others(3): Show HG02615.hp2 HG02723.hp2 HG02895.hp1 HG03195.hp1 HG03471.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0252 a0001c0001t0003g0020 a0001c0001t0003g0198 others(3): Show a0001c0001t0002g0252 a0001c0001t0003g0020 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0202	6	370	0.0162	14	c.-11 others(25): Show c.-1197_-1184dupGTGTGTGTGTGTGT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		1070		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTATATAT others(7): Show GTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02083.hp2 HG02132.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0156 a0001c0001t0005g0126 a0001c0001t0005g0128 a0001c0001t0001g0156 a0001c0001t0005g0126 a0001c0001t0005g0128	3	370	0.0081	14	c.-30 others(25): Show c.-3049_-3036dupTATATATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTATAT others(7): Show GTGTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG02027.hp1 HG02071.hp1 others(2): Show HG01074.hp2 HG02027.hp1 HG02071.hp1 NA18968.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0184 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0005g0149	5	370	0.0135	14	c.-30 others(25): Show c.-3036_-3035insTATATATATATACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	370	0.0027	14	c.-30 others(25): Show c.-3036_-3035insTATATATATACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01123.hp1 HG01346.hp1 others(3): Show HG01099.hp2 HG01123.hp1 HG01346.hp1 HG02148.hp2 HG03710.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0275 a0001c0001t0001g0277	6	410	0.0146	14	c.-10 others(33): Show c.-101-5692_-101-5679dupGTGTGTGTGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588510	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19012.hp2 NA18961.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0059 a0001c0001t0006g0060	2	420	0.0048	14	c.82+ others(27): Show c.82+607_82+620dupGTGTGTGTGTGTGT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1H_chr8_53710543_53848245	53765982	C C	CCACACAA others(7): Show CCACACAAATATAGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	286	0.0035	14	c.117 others(33): Show c.1175+3622_1175+3635dupACTATATTTGTGTG	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77956790	T T	TCTTTCTT others(7): Show TCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0043 a0003c0003t0002g0043	1	233	0.0043	14	c.-21 others(33): Show c.-21-14831_-21-14830insCTTTCTTTCTTCTC	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22			chrX	TogoVar
ATP7A_chrX_77905693_78055395	78037980	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01081.hp2 others(1): Show HG00438.hp2 HG00733.hp2 HG01081.hp2 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0013 a0002c0002t0002 a0002c0002t0003 a0002c0002t0013	a0002c0002t0002g0048 a0002c0002t0002g0223 a0002c0002t0003g0046 others(1): Show a0002c0002t0002g0048 a0002c0002t0002g0223 a0002c0002t0003g0046 a0002c0002t0013g0075	4	233	0.0172	14	c.351 others(31): Show c.3512-843_3512-830dupTTTTTTTTTTTTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	17/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51953851	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00673.hp1 others(38): Show HG00408.hp2 HG00609.hp1 HG00673.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01517.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp1 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02300.hp2 HG02698.hp2 HG02735.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp1 NA18941.hp2 NA18945.hp2 NA18951.hp2 NA18956.hp2 NA18970.hp1 NA18972.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19060.hp2 NA19089.hp1 NA20129.hp1	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0002 a0002c0014 a0002c0020 others(2): Show a0002c0002 a0002c0014 a0002c0020 a0003c0003 a0011c0021	a0002c0002t0002 a0002c0002t0008 a0002c0014t0002 others(4): Show a0002c0002t0002 a0002c0002t0008 a0002c0014t0002 a0002c0020t0002 a0003c0003t0006 a0003c0003t0008 a0011c0021t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 others(33): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0041 a0002c0002t0002g0047 a0002c0002t0002g0053 a0002c0002t0002g0059 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0008g0267 a0002c0002t0008g0276 a0002c0014t0002g0049 a0002c0020t0002g0051 a0003c0003t0006g0183 a0003c0003t0008g0238 a0011c0021t0002g0107	41	302	0.1358	14	c.244 others(33): Show c.2448-3466_2448-3453dupTTTTTTTTTTTTTT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	9/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42446080	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18994.hp1 NA19077.hp1 HG02735.hp1 NA18994.hp1 NA19077.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0005 a0003c0006t0001 a0001c0001t0001 a0001c0001t0005 a0003c0006t0001	a0001c0001t0001g0082 a0001c0001t0005g0226 a0003c0006t0001g0159 a0001c0001t0001g0082 a0001c0001t0005g0226 a0003c0006t0001g0159	3	310	0.0097	14	c.295 others(31): Show c.2958+489_2958+502dupTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	31/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448396	C C	CTTTACTT others(7): Show CTTTACTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(64): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01516.hp2 HG01928.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp2 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02451.hp2 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18953.hp2 NA18960.hp2 NA18963.hp2 NA18975.hp2 NA18990.hp1 NA18994.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp2 NA19079.hp1 NA19086.hp2 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0005c0010 a0006c0009	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(17): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0020 a0001c0002t0026 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0020 a0001c0008t0006 a0005c0010t0014 a0006c0009t0008	a0001c0001t0005g0298 a0001c0001t0005g0301 a0001c0001t0006g0193 others(64): Show a0001c0001t0005g0298 a0001c0001t0005g0301 a0001c0001t0006g0193 a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0248 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0006g0264 a0001c0001t0006g0300 a0001c0001t0007g0045 a0001c0001t0007g0052 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0125 a0001c0001t0007g0130 a0001c0001t0007g0142 a0001c0001t0007g0151 a0001c0002t0002g0029 a0001c0002t0003g0188 a0001c0002t0004g0016 a0001c0002t0004g0033 a0001c0002t0004g0131 a0001c0002t0007g0096 a0001c0002t0007g0097 a0001c0002t0008g0167 a0001c0002t0010g0260 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0013g0108 a0001c0002t0014g0194 a0001c0002t0014g0276 a0001c0002t0020g0111 a0001c0002t0026g0012 a0001c0004t0004g0099 a0001c0004t0004g0140 a0001c0004t0005g0306 a0001c0004t0010g0184 a0001c0004t0010g0283 a0001c0004t0010g0285 a0001c0004t0010g0292 a0001c0004t0010g0299 a0001c0004t0020g0028 a0001c0008t0006g0198 a0005c0010t0014g0277 a0006c0009t0008g0114	67	310	0.2161	14	c.289 others(33): Show c.2897-1753_2897-1752insAAAAAAAAAGTAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42479996	T T	TTGTGTGT others(7): Show TTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp2 HG01099.hp1 others(14): Show HG00639.hp2 HG01070.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp1 HG02074.hp2 HG02293.hp1 HG02818.hp1 HG03239.hp2 HG03942.hp2 HG04115.hp1 NA18952.hp2 NA18969.hp2 NA18989.hp1 NA19057.hp2 NA19064.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0037 a0001c0004t0004	a0001c0001t0001g0178 a0001c0001t0002g0044 a0001c0001t0002g0049 others(14): Show a0001c0001t0001g0178 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0058 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0003g0243 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0272 a0001c0001t0005g0186 a0001c0001t0008g0064 a0001c0001t0009g0205 a0001c0001t0017g0080 a0001c0001t0017g0081 a0001c0001t0037g0203 a0001c0004t0004g0110	17	310	0.0548	14	c.232 others(33): Show c.2324+5486_2324+5499dupCACACACACACACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42576475	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19084.hp1 NA18956.hp1 NA19084.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0219 a0003c0006t0005g0220 a0003c0006t0005g0219 a0003c0006t0005g0220	2	310	0.0065	14	c.112 others(31): Show c.1129-790_1129-777dupTTTTTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	12/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635778	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	310	0.0032	14	c.50- others(29): Show c.50-8670_50-8669insATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG02129.hp1 others(1): Show HG00735.hp2 HG01081.hp1 HG02129.hp1 NA18956.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0009 a0003c0006t0005 a0001c0001t0001 a0001c0001t0009 a0003c0006t0005	a0001c0001t0001g0153 a0001c0001t0009g0211 a0001c0001t0009g0212 others(1): Show a0001c0001t0001g0153 a0001c0001t0009g0211 a0001c0001t0009g0212 a0003c0006t0005g0219	4	310	0.0129	14	c.50- others(29): Show c.50-8672_50-8671insATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CACATATA others(7): Show CACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01175.hp1 HG01496.hp1 HG01070.hp2 HG01175.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0149 a0001c0001t0017g0080 a0001c0001t0017g0081 a0001c0001t0002g0149 a0001c0001t0017g0080 a0001c0001t0017g0081	3	310	0.0097	14	c.50- others(29): Show c.50-8674_50-8673insATATATATATATGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01074.hp2 HG01099.hp1 others(11): Show HG00733.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01433.hp2 HG01978.hp1 HG02155.hp2 HG02300.hp1 HG02735.hp1 HG03669.hp2 HG03942.hp2 NA20752.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0003t0005 a0001c0004t0005 a0001c0004t0010 a0005c0010t0014	a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0128 others(11): Show a0001c0001t0001g0055 a0001c0001t0001g0082 a0001c0001t0001g0128 a0001c0001t0003g0206 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0009g0205 a0001c0001t0009g0216 a0001c0003t0005g0227 a0001c0004t0005g0306 a0001c0004t0010g0184 a0005c0010t0014g0277	14	310	0.0452	14	c.50- others(29): Show c.50-8687_50-8674dupATATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635810	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02897.hp2 NA19030.hp2 HG02145.hp1 HG02897.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0031 a0001c0002t0004g0030 a0001c0002t0004g0131 a0001c0001t0004g0031 a0001c0002t0004g0030 a0001c0002t0004g0131	3	310	0.0097	14	c.50- others(29): Show c.50-8702_50-8701insGTATATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)