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
ATP8A1_chr4_42403373_42662105	42435426	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0123 a0001c0001t0007g0123	1	310	0.0032	10	c.312 others(29): Show c.3123+8129_3123+8138dupTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	33/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42448401	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp2 HG01884.hp2 others(5): Show HG01169.hp2 HG01515.hp2 HG01884.hp2 HG02895.hp2 HG03041.hp1 HG03704.hp1 HG03834.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0003t0005	a0001c0001t0001g0086 a0001c0001t0001g0135 a0001c0001t0005g0199 others(5): Show a0001c0001t0001g0086 a0001c0001t0001g0135 a0001c0001t0005g0199 a0001c0001t0005g0249 a0001c0001t0005g0282 a0001c0001t0010g0291 a0001c0001t0012g0308 a0001c0003t0005g0218	8	310	0.0258	10	c.289 others(29): Show c.2897-1767_2897-1758dupAAAAAAAAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	30/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42468430	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	310	0.0032	10	c.232 others(29): Show c.2325-3364_2325-3355dupGTGTGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42479996	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(84): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00738.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG02129.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18960.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp2 NA18990.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp2 NA19077.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0006 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0002t0016 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0004t0003 a0001c0004t0010 a0003c0006t0001 a0003c0006t0005 a0004c0011t0005	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 others(84): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0003g0250 a0001c0001t0003g0257 a0001c0001t0004g0076 a0001c0001t0005g0196 a0001c0001t0005g0199 a0001c0001t0005g0202 a0001c0001t0005g0247 a0001c0001t0005g0249 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0265 a0001c0001t0008g0084 a0001c0001t0008g0137 a0001c0001t0009g0217 a0001c0001t0009g0221 a0001c0001t0011g0005 a0001c0001t0012g0303 a0001c0001t0012g0308 a0001c0001t0021g0187 a0001c0001t0029g0036 a0001c0001t0030g0126 a0001c0001t0032g0279 a0001c0001t0035g0244 a0001c0002t0016g0032 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0003g0294 a0001c0003t0005g0227 a0001c0004t0003g0297 a0001c0004t0010g0286 a0001c0004t0010g0295 a0003c0006t0001g0159 a0003c0006t0001g0160 a0003c0006t0005g0220 a0003c0006t0005g0229 a0004c0011t0005g0228	87	310	0.2807	10	c.232 others(29): Show c.2324+5490_2324+5499dupCACACACACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42500365	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03130.hp2 HG03579.hp1 others(1): Show HG02602.hp2 HG03130.hp2 HG03579.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0007 a0001c0001t0009 a0001c0002t0004 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0002t0004 a0002c0005t0031	a0001c0001t0007g0083 a0001c0001t0009g0223 a0001c0002t0004g0131 others(1): Show a0001c0001t0007g0083 a0001c0001t0009g0223 a0001c0002t0004g0131 a0002c0005t0031g0307	4	310	0.0129	10	c.215 others(29): Show c.2151+3075_2151+3084dupGTTTTGTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	24/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42576475	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01516.hp2 others(12): Show HG01256.hp2 HG01258.hp2 HG01516.hp2 HG02129.hp1 HG02602.hp1 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp2 NA18953.hp1 NA18968.hp1 NA18975.hp1 NA19077.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0033 a0003c0006t0001	a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 others(12): Show a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0002g0141 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0005g0247 a0001c0001t0007g0070 a0001c0001t0007g0151 a0001c0001t0007g0154 a0001c0001t0009g0213 a0001c0001t0009g0214 a0001c0001t0033g0304 a0003c0006t0001g0159	15	310	0.0484	10	c.112 others(27): Show c.1129-786_1129-777dupTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	12/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42580337	G G	GGAAGACA others(3): Show GGAAGACAGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0308 a0001c0001t0012g0308	1	310	0.0032	10	c.835 others(25): Show c.835-369_835-360dupGCCTGTCTTC	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	10/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42623009	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0200	1	310	0.0032	10	c.363 others(27): Show c.363+1517_363+1526dupTTTTTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	4/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635778	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	310	0.0032	10	c.50- others(25): Show c.50-8670_50-8669insATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG04184.hp1 HG04204.hp2 others(5): Show HG00438.hp2 HG04184.hp1 HG04204.hp2 NA18975.hp1 NA18980.hp2 NA19010.hp2 NA19077.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0025 a0003c0006t0005	a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(5): Show a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0124 a0001c0001t0007g0154 a0001c0001t0025g0010 a0003c0006t0005g0229	8	310	0.0258	10	c.50- others(25): Show c.50-8672_50-8671insATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01074.hp1 others(7): Show HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp2 HG01516.hp1 HG02451.hp2 NA18747.hp1 NA18940.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0021 a0001c0004t0010 a0001c0004t0020	a0001c0001t0001g0050 a0001c0001t0001g0177 a0001c0001t0001g0178 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0002g0176 a0001c0003t0003g0294 a0001c0003t0021g0190 a0001c0004t0010g0283 a0001c0004t0010g0292 a0001c0004t0020g0028	10	310	0.0323	10	c.50- others(25): Show c.50-8683_50-8674dupATATATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636148	A A	ACGCGCGC others(3): Show ACGCGCGCGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0134 a0001c0004t0004g0134	1	310	0.0032	10	c.50- others(25): Show c.50-9040_50-9039insCACGCGCGCG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25389983	C C	CTTTTGTT others(3): Show CTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01074.hp2 others(20): Show HG00738.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01358.hp2 HG01496.hp2 HG02055.hp2 HG02257.hp2 HG02273.hp2 HG02615.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02895.hp2 HG02896.hp1 HG02976.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp1 HG03540.hp1 NA18906.hp2 NA19030.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0026 a0001c0001t0030 a0001c0001t0053 a0001c0001t0066 a0001c0001t0074 a0001c0002t0001 a0001c0002t0003 a0001c0002t0021 a0001c0003t0014 a0001c0003t0060 a0001c0004t0002 a0001c0004t0005 a0001c0005t0012 a0001c0005t0044 a0001c0006t0020 a0001c0006t0043 a0001c0007t0007 a0001c0009t0038 a0001c0010t0012	a0001c0001t0002g0079 a0001c0001t0003g0093 a0001c0001t0015g0016 others(20): Show a0001c0001t0002g0079 a0001c0001t0003g0093 a0001c0001t0015g0016 a0001c0001t0015g0082 a0001c0001t0026g0090 a0001c0001t0030g0087 a0001c0001t0053g0114 a0001c0001t0066g0092 a0001c0001t0074g0116 a0001c0002t0001g0083 a0001c0002t0003g0120 a0001c0002t0021g0017 a0001c0003t0014g0084 a0001c0003t0060g0115 a0001c0004t0002g0080 a0001c0004t0005g0089 a0001c0005t0012g0020 a0001c0005t0044g0018 a0001c0006t0020g0085 a0001c0006t0043g0095 a0001c0007t0007g0094 a0001c0009t0038g0112 a0001c0010t0012g0091	23	122	0.1885	10	c.76+ others(27): Show c.76+17716_76+17725dupTTTTGTTTTG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465748	C C	CCTCCCTC others(3): Show CCTCCCTCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02280.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0005 a0001c0001t0016	a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0005g0102 a0001c0001t0016g0104	2	122	0.0164	10	c.77- others(25): Show c.77-3226_77-3225insCCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25506940	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02280.hp1 HG03490.hp1 others(2): Show HG00738.hp2 HG02280.hp1 HG03490.hp1 NA18906.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 others(2): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0009t0037	a0001c0001t0008g0073 a0001c0001t0015g0082 a0001c0001t0018g0041 others(2): Show a0001c0001t0008g0073 a0001c0001t0015g0082 a0001c0001t0018g0041 a0001c0001t0035g0043 a0001c0009t0037g0008	5	122	0.0410	10	c.222 others(29): Show c.222-23046_222-23037dupATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25539060	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0090 a0001c0001t0026g0090	1	122	0.0082	10	c.581 others(27): Show c.581+1030_581+1039dupGTGTGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25554523	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0008 a0001c0015t0008	a0001c0015t0008g0015 a0001c0015t0008g0015	1	122	0.0082	10	c.118 others(27): Show c.1186-463_1186-462insGTGTATGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	12/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25594984	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0019 a0001c0020t0019	a0001c0020t0019g0067 a0001c0020t0019g0067	1	122	0.0082	10	c.221 others(29): Show c.2211+5299_2211+5308dupATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25701723	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0037 a0001c0002t0002g0037	1	122	0.0082	10	c.238 others(29): Show c.2384+2413_2384+2422dupACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25720167	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02257.hp2 HG02559.hp1 others(7): Show HG01175.hp2 HG02257.hp2 HG02559.hp1 HG02622.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0019	a0001c0001t0008 a0001c0001t0010 a0001c0001t0026 others(7): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0026 a0001c0001t0035 a0001c0002t0005 a0001c0002t0032 a0001c0002t0047 a0001c0003t0052 a0001c0006t0006 a0001c0019t0007	a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0026g0090 others(7): Show a0001c0001t0008g0073 a0001c0001t0010g0100 a0001c0001t0026g0090 a0001c0001t0035g0043 a0001c0002t0005g0034 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0003t0052g0113 a0001c0006t0006g0098 a0001c0019t0007g0029	10	122	0.0820	10	c.238 others(31): Show c.2384+20831_2384+20840dupTTTTTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25744325	A A	ACCCCCCC others(3): Show ACCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0087 a0001c0001t0030g0087	1	122	0.0082	10	c.238 others(31): Show c.2385-24714_2385-24713insCCCCCCCCCC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25744925	T T	TTTTTCTT others(3): Show TTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0052 a0001c0003t0052	a0001c0003t0052g0113 a0001c0003t0052g0113	1	122	0.0082	10	c.238 others(31): Show c.2385-24101_2385-24092dupCTTTTCTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25762268	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA21309.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0050 a0001c0002t0005 a0001c0001t0050 a0001c0002t0005	a0001c0001t0050g0025 a0001c0002t0005g0034 a0001c0001t0050g0025 a0001c0002t0005g0034	2	122	0.0164	10	c.238 others(29): Show c.2385-6759_2385-6750dupAAAAAAAAAA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25791542	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02622.hp1 HG02965.hp2 others(5): Show HG01496.hp2 HG02622.hp1 HG02965.hp2 HG03490.hp1 HG03579.hp1 NA18906.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0008 a0001c0001t0015 a0001c0001t0030 others(5): Show a0001c0001t0008 a0001c0001t0015 a0001c0001t0030 a0001c0001t0050 a0001c0002t0006 a0001c0002t0016 a0001c0002t0058 a0001c0004t0002	a0001c0001t0008g0073 a0001c0001t0015g0082 a0001c0001t0030g0087 others(5): Show a0001c0001t0008g0073 a0001c0001t0015g0082 a0001c0001t0030g0087 a0001c0001t0050g0025 a0001c0002t0006g0119 a0001c0002t0016g0011 a0001c0002t0058g0101 a0001c0004t0002g0080	8	122	0.0656	10	c.267 others(31): Show c.2679+16608_2679+16617dupACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25794820	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01074.hp2 HG01109.hp2 others(4): Show HG01070.hp2 HG01074.hp2 HG01109.hp2 HG02698.hp1 HG03490.hp2 HG03540.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016	a0001c0001t0004 a0001c0001t0040 a0001c0001t0053 others(4): Show a0001c0001t0004 a0001c0001t0040 a0001c0001t0053 a0001c0002t0001 a0001c0002t0020 a0001c0003t0018 a0001c0016t0045	a0001c0001t0004g0046 a0001c0001t0040g0038 a0001c0001t0053g0114 others(4): Show a0001c0001t0004g0046 a0001c0001t0040g0038 a0001c0001t0053g0114 a0001c0002t0001g0083 a0001c0002t0020g0097 a0001c0003t0018g0057 a0001c0016t0045g0105	7	122	0.0574	10	c.267 others(31): Show c.2679+19892_2679+19901dupACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25813382	T T	TATATGAT others(3): Show TATATGATATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01081.hp1 others(24): Show HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01358.hp2 HG01496.hp1 HG02015.hp2 HG02257.hp2 HG02273.hp1 HG02615.hp2 HG02630.hp1 HG03195.hp2 HG03540.hp1 HG03654.hp2 NA18952.hp1 NA18952.hp2 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19043.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0011 a0001c0012 a0001c0017 a0001c0019	a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 others(24): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0001t0026 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0063 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0018 a0001c0003t0027 a0001c0003t0052 a0001c0003t0061 a0001c0003t0065 a0001c0004t0005 a0001c0004t0049 a0001c0005t0023 a0001c0006t0043 a0001c0011t0017 a0001c0012t0002 a0001c0017t0036 a0001c0019t0007	a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0024g0003 others(24): Show a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0024g0003 a0001c0001t0026g0090 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0001t0054g0103 a0001c0002t0001g0032 a0001c0002t0002g0037 a0001c0002t0009g0042 a0001c0002t0063g0050 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0003t0052g0113 a0001c0003t0061g0055 a0001c0003t0065g0033 a0001c0004t0005g0089 a0001c0004t0049g0086 a0001c0005t0023g0002 a0001c0006t0043g0095 a0001c0011t0017g0121 a0001c0012t0002g0110 a0001c0017t0036g0019 a0001c0019t0007g0029	27	122	0.2213	10	c.268 others(31): Show c.2680-14706_2680-14697dupGATATGATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25814098	G G	GACACACA others(3): Show GACACACACAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02698.hp2 HG02896.hp2 others(4): Show HG02273.hp2 HG02698.hp2 HG02896.hp2 HG02965.hp1 HG03579.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0030 a0001c0001t0041 a0001c0001t0046 others(4): Show a0001c0001t0030 a0001c0001t0041 a0001c0001t0046 a0001c0002t0021 a0001c0004t0022 a0001c0008t0013 a0001c0008t0057	a0001c0001t0030g0087 a0001c0001t0041g0044 a0001c0001t0046g0045 others(4): Show a0001c0001t0030g0087 a0001c0001t0041g0044 a0001c0001t0046g0045 a0001c0002t0021g0017 a0001c0004t0022g0054 a0001c0008t0013g0074 a0001c0008t0057g0070	7	122	0.0574	10	c.268 others(31): Show c.2680-14005_2680-13996dupACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	G G	GTATATAT others(3): Show GTATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03098.hp1 HG02896.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0009 a0001c0008t0013 a0001c0001t0009 a0001c0008t0013	a0001c0001t0009g0065 a0001c0008t0013g0074 a0001c0001t0009g0065 a0001c0008t0013g0074	2	122	0.0164	10	c.275 others(29): Show c.2754+1520_2754+1529dupATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25853392	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp2 HG02723.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0003 a0001c0001t0019 a0001c0002t0003	a0001c0001t0019g0004 a0001c0002t0003g0120 a0001c0001t0019g0004 a0001c0002t0003g0120	2	122	0.0164	10	c.295 others(29): Show c.2957-6802_2957-6801insTATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	30/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25853394	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA21309.hp2 HG01081.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0031 a0001c0002t0005 a0001c0002t0031	a0001c0002t0005g0034 a0001c0002t0031g0058 a0001c0002t0005g0034 a0001c0002t0031g0058	2	122	0.0164	10	c.295 others(29): Show c.2957-6800_2957-6799insTATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	30/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25889245	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02723.hp1 HG02886.hp2 others(2): Show HG01074.hp2 HG02723.hp1 HG02886.hp2 HG02896.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0053 a0001c0001t0064 a0001c0002t0003 others(2): Show a0001c0001t0053 a0001c0001t0064 a0001c0002t0003 a0001c0005t0012 a0001c0006t0043	a0001c0001t0053g0114 a0001c0001t0064g0072 a0001c0002t0003g0120 others(2): Show a0001c0001t0053g0114 a0001c0001t0064g0072 a0001c0002t0003g0120 a0001c0005t0012g0020 a0001c0006t0043g0095	5	122	0.0410	10	c.318 others(31): Show c.3183+26857_3183+26866dupTATATATATA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25892478	G G	GTCTCTCT others(3): Show GTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0120 a0001c0002t0003g0120	1	122	0.0082	10	c.318 others(31): Show c.3183+30087_3183+30096dupTCTCTCTCTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25902939	G G	GCACACAC others(3): Show GCACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01243.hp1 others(9): Show HG00642.hp2 HG01074.hp2 HG01243.hp1 HG01496.hp1 HG02257.hp1 HG02723.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011	a0001c0001t0008 a0001c0001t0053 a0001c0002t0003 others(9): Show a0001c0001t0008 a0001c0001t0053 a0001c0002t0003 a0001c0003t0006 a0001c0003t0008 a0001c0003t0010 a0001c0003t0052 a0001c0003t0073 a0001c0004t0003 a0001c0004t0068 a0001c0005t0044 a0001c0011t0017	a0001c0001t0008g0073 a0001c0001t0053g0114 a0001c0002t0003g0120 others(9): Show a0001c0001t0008g0073 a0001c0001t0053g0114 a0001c0002t0003g0120 a0001c0003t0006g0078 a0001c0003t0008g0010 a0001c0003t0010g0026 a0001c0003t0052g0113 a0001c0003t0073g0001 a0001c0004t0003g0007 a0001c0004t0068g0071 a0001c0005t0044g0018 a0001c0011t0017g0121	12	122	0.0984	10	c.318 others(31): Show c.3183+40555_3183+40564dupACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	26002848	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	122	0.0082	10	c.337 others(29): Show c.3378-9645_3378-9636dupGTGTGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	35/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTATGT others(3): Show GTGTATGTGTA	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18939.hp2 NA18974.hp2 others(5): Show HG02080.hp1 NA18939.hp2 NA18974.hp2 NA18991.hp2 NA19012.hp1 NA19054.hp1 NA19062.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037	a0002c0002t0014g0207 a0002c0002t0014g0237 a0002c0002t0014g0266 others(5): Show a0002c0002t0014g0207 a0002c0002t0014g0237 a0002c0002t0014g0266 a0002c0002t0014g0293 a0002c0002t0019g0038 a0002c0002t0019g0048 a0002c0002t0019g0137 a0002c0002t0037g0175	8	314	0.0255	10	c.353 others(27): Show c.3532-171_3532-170insTACACATACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57648882	G G	GTGTGTGT others(3): Show GTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00673.hp2 others(23): Show HG00438.hp2 HG00597.hp2 HG00673.hp2 HG01071.hp1 HG01106.hp1 HG01123.hp1 HG01255.hp1 HG01433.hp1 HG01433.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02602.hp1 HG02622.hp2 HG02922.hp2 HG03209.hp1 HG03491.hp1 HG03579.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18968.hp1 NA18987.hp1 NA18999.hp1 NA19004.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 a0001c0001t0032	a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0200 others(23): Show a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0228 a0001c0001t0002g0275 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0298 a0001c0001t0003g0208 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0094 a0001c0001t0004g0126 a0001c0001t0004g0138 a0001c0001t0007g0283 a0001c0001t0008g0020 a0001c0001t0008g0099 a0001c0001t0008g0101 a0001c0001t0010g0143 a0001c0001t0010g0146 a0001c0001t0010g0153 a0001c0001t0011g0145 a0001c0001t0023g0167 a0001c0001t0023g0168 a0001c0001t0032g0005	26	314	0.0828	10	c.353 others(27): Show c.3532-171_3532-170insTACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	27/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57658627	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02809.hp2 HG02818.hp2 others(1): Show HG02071.hp2 HG02809.hp2 HG02818.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0050	a0001c0001t0002g0202 a0001c0001t0003g0238 a0001c0001t0004g0105 others(1): Show a0001c0001t0002g0202 a0001c0001t0003g0238 a0001c0001t0004g0105 a0001c0001t0050g0305	4	314	0.0127	10	c.270 others(29): Show c.2707+2537_2707+2546dupCACACACACA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	22/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672931	T T	TATATATA others(3): Show TATATATATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	314	0.0032	10	c.182 others(29): Show c.1820-1352_1820-1351insTTATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680277	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18999.hp1 NA18983.hp2 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0003 a0001c0001t0009	a0001c0001t0003g0208 a0001c0001t0009g0259 a0001c0001t0003g0208 a0001c0001t0009g0259	2	314	0.0064	10	c.163 others(29): Show c.1630+3749_1630+3758dupTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680585	A A	AAAAACAA others(3): Show AAAAACAAAAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0229 a0002c0002t0014g0229	1	314	0.0032	10	c.163 others(29): Show c.1630+3441_1630+3450dupGTTTTGTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57680585	A A	AGAAACAA others(3): Show AGAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02738.hp1 HG03239.hp2 HG02280.hp2 HG02738.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0093 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0006g0093 a0001c0001t0013g0271 a0001c0001t0013g0272	3	314	0.0096	10	c.163 others(29): Show c.1630+3450_1630+3451insGTTTTGTTTC	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	15/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57712048	C C	CATATATA others(3): Show CATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp2 NA19240.hp2 HG03139.hp2 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0040 a0001c0001t0001 a0001c0001t0039 a0001c0001t0040	a0001c0001t0001g0003 a0001c0001t0039g0149 a0001c0001t0040g0148 a0001c0001t0001g0003 a0001c0001t0039g0149 a0001c0001t0040g0148	3	314	0.0096	10	c.182 others(27): Show c.182-5471_182-5462dupATATATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713475	T T	TTTTTATT others(3): Show TTTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02572.hp1 others(16): Show HG00735.hp2 HG01891.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0001c0019 others(1): Show a0001c0001 a0001c0012 a0001c0019 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0039 a0001c0001t0040 a0001c0001t0050 a0001c0012t0035 a0001c0019t0031 a0003c0003t0042	a0001c0001t0001g0003 a0001c0001t0001g0098 a0001c0001t0001g0100 others(16): Show a0001c0001t0001g0003 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0002g0203 a0001c0001t0002g0279 a0001c0001t0002g0290 a0001c0001t0004g0019 a0001c0001t0010g0157 a0001c0001t0011g0158 a0001c0001t0020g0193 a0001c0001t0021g0001 a0001c0001t0021g0002 a0001c0001t0028g0304 a0001c0001t0039g0149 a0001c0001t0040g0148 a0001c0001t0050g0305 a0001c0012t0035g0008 a0001c0019t0031g0062 a0003c0003t0042g0182	19	314	0.0605	10	c.182 others(27): Show c.182-6898_182-6889dupTAAAATAAAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756236	C C	CACACACA others(3): Show CACACACACAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0037 a0002c0002t0037	a0002c0002t0037g0175 a0002c0002t0037g0175	1	314	0.0032	10	c.-25 others(29): Show c.-25-24405_-25-24404insATGTGTGTGT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756305	A A	ATATATAT others(3): Show ATATATATATG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG02080.hp1 others(15): Show HG00544.hp1 HG00642.hp1 HG02080.hp1 HG02083.hp1 HG02280.hp1 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03669.hp1 NA18946.hp1 NA18952.hp2 NA18953.hp2 NA18974.hp2 NA18991.hp2 NA19012.hp1 NA19062.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0028 a0002c0002t0014 a0002c0002t0019 a0002c0002t0037 a0004c0004t0046	a0001c0001t0001g0043 a0001c0001t0002g0295 a0001c0001t0004g0113 others(15): Show a0001c0001t0001g0043 a0001c0001t0002g0295 a0001c0001t0004g0113 a0001c0001t0005g0042 a0001c0001t0005g0071 a0001c0001t0008g0041 a0001c0001t0008g0134 a0001c0001t0010g0152 a0001c0001t0010g0164 a0001c0001t0011g0184 a0001c0001t0012g0150 a0001c0001t0028g0308 a0002c0002t0014g0207 a0002c0002t0014g0237 a0002c0002t0014g0293 a0002c0002t0019g0048 a0002c0002t0037g0175 a0004c0004t0046g0291	18	314	0.0573	10	c.-25 others(29): Show c.-25-24474_-25-24473insCATATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756653	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(43): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00673.hp1 HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG01952.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02293.hp1 HG02523.hp2 HG02630.hp1 HG02897.hp1 HG03130.hp2 HG03195.hp2 HG03669.hp2 HG04228.hp2 NA18942.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18978.hp1 NA18978.hp2 NA18991.hp1 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19057.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0026 a0001c0006t0001	a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0112 others(43): Show a0001c0001t0001g0016 a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0214 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0292 a0001c0001t0003g0209 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0277 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0004g0138 a0001c0001t0005g0025 a0001c0001t0005g0036 a0001c0001t0005g0046 a0001c0001t0005g0072 a0001c0001t0005g0127 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0006g0030 a0001c0001t0007g0196 a0001c0001t0009g0199 a0001c0001t0009g0205 a0001c0001t0009g0225 a0001c0001t0009g0243 a0001c0001t0009g0286 a0001c0001t0009g0288 a0001c0001t0010g0186 a0001c0001t0012g0178 a0001c0001t0012g0180 a0001c0001t0013g0223 a0001c0001t0013g0231 a0001c0001t0017g0222 a0001c0001t0026g0314 a0001c0006t0001g0114	46	314	0.1465	10	c.-25 others(29): Show c.-25-24831_-25-24822dupGAGAGAGAGA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57761112	T T	TATAAAAT others(3): Show TATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02293.hp2 HG02622.hp2 others(3): Show HG02055.hp1 HG02293.hp2 HG02622.hp2 HG02698.hp1 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0078 a0001c0001t0007g0226 a0001c0001t0007g0283 others(3): Show a0001c0001t0001g0078 a0001c0001t0007g0226 a0001c0001t0007g0283 a0001c0001t0008g0020 a0001c0001t0008g0099 a0001c0001t0008g0101	6	314	0.0191	10	c.-25 others(29): Show c.-25-29290_-25-29281dupTTTATTTTAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57782803	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0098 a0001c0001t0003g0281 a0001c0001t0001g0098 a0001c0001t0003g0281	2	314	0.0064	10	c.-26 others(29): Show c.-26+20185_-26+20194dupAAAAAAAAAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154322489	C C	CTTCTTCT others(3): Show CTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG03654.hp2 NA18612.hp1 HG01099.hp2 HG03654.hp2 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0031 a0001c0004t0005 a0001c0003t0031 a0001c0004t0005	a0001c0003t0031g0024 a0001c0004t0005g0003 a0001c0004t0005g0162 a0001c0003t0031g0024 a0001c0004t0005g0003 a0001c0004t0005g0162	3	382	0.0079	10	c.-32 others(21): Show c.-3251_-3250insTTCTTCTTCT	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding		3035		chr1	TogoVar
ATP8B2_chr1_154320525_154356304	154355261	C C	CACACACA others(3): Show CACACACACAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG02602.hp2 HG03490.hp2 others(1): Show HG00140.hp1 HG02602.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0121 a0001c0002t0003g0002 a0001c0002t0003g0121	4	382	0.0105	10	c.61 others(21): Show c.6143_*6144insACACACACAG	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding		3958		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)