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
ATP6V1H_chr8_53710543_53848245	53755736	ATATATAT others(9): Show ATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0281 a0001c0006t0001g0281	1	286	0.0035	-16	c.127 others(33): Show c.1277+803_1277+818delAAAAAAAATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53765454	AACACACA others(9): Show AACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00621.hp2 others(65): Show HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG01169.hp2 HG01257.hp2 HG01358.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp2 HG02135.hp2 HG02300.hp2 HG02809.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19006.hp1 NA19012.hp1 NA19055.hp1 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0087 others(65): Show a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0263 a0001c0001t0002g0264 a0002c0004t0002g0133	68	286	0.2378	-16	c.117 others(35): Show c.1175+4148_1175+4163delGTGTGTGTGTGTGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	11/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53786477	TGCAGTTC others(9): Show TGCAGTTCCCGGGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03098.hp1 HG02572.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0265 a0001c0001t0004g0266	2	286	0.0070	-16	c.870 others(33): Show c.870+9154_870+9169delCTCACCCGGGAACTGC	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	9/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	CATATATA others(9): Show CATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	286	0.0035	-16	c.307 others(33): Show c.307-2033_307-2018delATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53838185	GTGCAACC others(9): Show GTGCAACCTCGGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	286	0.0035	-16	c.113 others(33): Show c.113+3377_113+3392delGTGAGCCGAGGTTGCA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	2/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	78017765	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 HG03540.hp2 HG02717.hp1 HG03225.hp1 HG03540.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0005 a0001c0001t0020 a0011c0015t0005 a0001c0001t0005 a0001c0001t0020 a0011c0015t0005	a0001c0001t0005g0126 a0001c0001t0020g0014 a0011c0015t0005g0127 a0001c0001t0005g0126 a0001c0001t0020g0014 a0011c0015t0005g0127	3	233	0.0129	-16	c.262 others(35): Show c.2626+1898_2626+1913delTTTTTTTTTTTTTTTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	12/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78027993	GTATTTAT others(9): Show GTATTTATTTATTTATT	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0004 a0014c0017t0004	a0014c0017t0004g0189 a0014c0017t0004g0189	1	233	0.0043	-16	c.291 others(35): Show c.2917-1227_2917-1212delATTTATTTATTTATTT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	14/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7B_chr13_51927669_52016450	51987799	GCAATGGG others(9): Show GCAATGGGGAAAGGATT	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	302	0.0033	-16	c.52- others(33): Show c.52-12647_52-12632delAATCCTTTCCCCATTG	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	1/20			chr13	TogoVar
ATP8A1_chr4_42403373_42662105	42555085	GTATCTAT others(9): Show GTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp1 HG03490.hp2 others(4): Show HG01192.hp1 HG02129.hp1 HG03490.hp2 NA18953.hp1 NA18962.hp2 NA19010.hp2 NA19079.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0011 a0001c0001 a0004c0011	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0033 a0004c0011t0005	a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0156 others(4): Show a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0006g0253 a0001c0001t0009g0217 a0001c0001t0033g0304 a0004c0011t0005g0228	7	310	0.0226	-16	c.141 others(33): Show c.1413+867_1413+882delGATAGATAGATAGATA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555127	ATCTATCT others(9): Show ATCTATCTATCTAATCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	310	0.0032	-16	c.141 others(33): Show c.1413+825_1413+840delAGATTAGATAGATAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555135	ATCTAATC others(9): Show ATCTAATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0273	1	310	0.0032	-16	c.141 others(33): Show c.1413+817_1413+832delAGATAGATAGATTAGA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42555139	AATCTATC others(9): Show AATCTATCTATCTATCT	A A	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0219 a0003c0006t0005g0219	1	310	0.0032	-16	c.141 others(33): Show c.1413+813_1413+828delAGATAGATAGATAGAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	16/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42636142	ACACACAC others(9): Show ACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0031 a0002c0005t0031	a0002c0005t0031g0307 a0002c0005t0031g0307	1	310	0.0032	-16	c.50- others(31): Show c.50-9049_50-9034delCGTGTGTGTGTGTGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25465663	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0021 a0001c0007t0005g0021	1	122	0.0082	-16	c.77- others(31): Show c.77-3253_77-3238delTTTCTTTCTTTCTTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25507249	GTGTGTGT others(9): Show GTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0053 a0001c0001t0051g0053	1	122	0.0082	-16	c.222 others(35): Show c.222-22748_222-22733delGTGTGTGTGTGTGTAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25510206	CACACACA others(9): Show CACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01261.hp2 others(4): Show HG01069.hp1 HG01071.hp1 HG01261.hp2 HG01496.hp2 HG02257.hp2 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 others(3): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0026 a0001c0001t0035 a0001c0004t0002 a0001c0004t0004	a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 others(4): Show a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0026g0090 a0001c0001t0035g0043 a0001c0004t0002g0049 a0001c0004t0002g0080 a0001c0004t0004g0048	7	122	0.0574	-16	c.222 others(35): Show c.222-19791_222-19776delCACACACACACACAGA	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25524886	ACTTCCTT others(9): Show ACTTCCTTCCTTCCTTC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG00741.hp1 others(19): Show HG00642.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01175.hp1 HG01261.hp1 HG01261.hp2 HG01981.hp2 HG02257.hp2 HG02622.hp2 HG02965.hp2 HG03041.hp2 HG03225.hp2 HG03486.hp1 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0035 a0001c0001t0040 a0001c0001t0042 a0001c0001t0050 a0001c0001t0051 a0001c0002t0001 a0001c0002t0005 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0005t0044	a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 others(19): Show a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0010g0100 a0001c0001t0011g0061 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0013g0005 a0001c0001t0017g0051 a0001c0001t0018g0041 a0001c0001t0026g0090 a0001c0001t0035g0043 a0001c0001t0040g0038 a0001c0001t0042g0059 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0002t0001g0039 a0001c0002t0005g0034 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0005t0044g0018	22	122	0.1803	-16	c.222 others(33): Show c.222-5076_222-5061delCTTCCTTCCTTCCTTC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25794820	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02965.hp2 HG03579.hp1 others(1): Show HG02622.hp1 HG02965.hp2 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0006 a0001c0002t0016 others(1): Show a0001c0001t0008 a0001c0002t0006 a0001c0002t0016 a0001c0002t0058	a0001c0001t0008g0073 a0001c0002t0006g0119 a0001c0002t0016g0011 others(1): Show a0001c0001t0008g0073 a0001c0002t0006g0119 a0001c0002t0016g0011 a0001c0002t0058g0101	4	122	0.0328	-16	c.267 others(37): Show c.2679+19886_2679+19901delACACACACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	27/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(9): Show GTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02723.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG02723.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0011 a0001c0002t0003 a0001c0003t0052 a0001c0001t0011 a0001c0002t0003 a0001c0003t0052	a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0002t0003g0120 others(1): Show a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0002t0003g0120 a0001c0003t0052g0113	4	122	0.0328	-16	c.275 others(35): Show c.2754+1514_2754+1529delATATATATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25836166	TTTTGTTT others(9): Show TTTTGTTTGTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG03139.hp1 others(2): Show HG00642.hp2 HG01243.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0015 others(1): Show a0001c0001 a0001c0004 a0001c0015 a0001c0016	a0001c0001t0048 a0001c0004t0003 a0001c0004t0068 others(2): Show a0001c0001t0048 a0001c0004t0003 a0001c0004t0068 a0001c0015t0008 a0001c0016t0045	a0001c0001t0048g0122 a0001c0004t0003g0007 a0001c0004t0068g0071 others(2): Show a0001c0001t0048g0122 a0001c0004t0003g0007 a0001c0004t0068g0071 a0001c0015t0008g0015 a0001c0016t0045g0105	5	122	0.0410	-16	c.275 others(33): Show c.2755-973_2755-958delGTTTGTTTGTTTGTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25837423	CCACACAC others(9): Show CCACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 HG02886.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0064 a0001c0002t0070 a0001c0001t0064 a0001c0002t0070	a0001c0001t0064g0072 a0001c0002t0070g0068 a0001c0001t0064g0072 a0001c0002t0070g0068	2	122	0.0164	-16	c.287 others(33): Show c.2877+170_2877+185delACACACACACACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	29/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25881241	CACAGGAG others(9): Show CACAGGAGATCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02273.hp2 others(1): Show HG01069.hp1 HG01071.hp1 HG02273.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0021 a0001c0002t0029 a0001c0004t0002 others(1): Show a0001c0002t0021 a0001c0002t0029 a0001c0004t0002 a0001c0004t0004	a0001c0002t0021g0017 a0001c0002t0029g0052 a0001c0004t0002g0049 others(1): Show a0001c0002t0021g0017 a0001c0002t0029g0052 a0001c0004t0002g0049 a0001c0004t0004g0048	4	122	0.0328	-16	c.318 others(37): Show c.3183+18834_3183+18849delACAGGAGATCTGCTGG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	33/36			chr13	TogoVar
ATP8A2_chr13_25366974_26030851	26002848	CTGTGTGT others(9): Show CTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0012 a0001c0010t0012	a0001c0010t0012g0091 a0001c0010t0012g0091	1	122	0.0082	-16	c.337 others(35): Show c.3378-9651_3378-9636delGTGTGTGTGTGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	35/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57672883	AAAGTATA others(9): Show AAAGTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01517.hp1 others(4): Show HG00280.hp1 HG00738.hp1 HG01517.hp1 HG02280.hp2 HG02723.hp2 HG03491.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018	a0001c0001t0002g0295 a0001c0001t0006g0070 a0001c0001t0013g0271 others(4): Show a0001c0001t0002g0295 a0001c0001t0006g0070 a0001c0001t0013g0271 a0001c0001t0015g0163 a0001c0001t0015g0177 a0001c0001t0018g0296 a0001c0001t0018g0297	7	314	0.0223	-16	c.182 others(35): Show c.1820-1319_1820-1304delATATATATATATACTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713188	TTTCTTTC others(9): Show TTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0022 a0003c0003t0022	a0003c0003t0022g0111 a0003c0003t0022g0111	1	314	0.0032	-16	c.182 others(33): Show c.182-6617_182-6602delGGAAGGAAAGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57713192	TTTCTTTC others(9): Show TTTCTTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18954.hp1 HG02723.hp2 NA18954.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0002 a0005c0007t0030 a0001c0001t0002 a0005c0007t0030	a0001c0001t0002g0295 a0005c0007t0030g0007 a0001c0001t0002g0295 a0005c0007t0030g0007	2	314	0.0064	-16	c.182 others(33): Show c.182-6621_182-6606delGGAAGGAAGGAAAGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57717547	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0035 a0001c0012t0035	a0001c0012t0035g0008 a0001c0012t0035g0008	1	314	0.0032	-16	c.182 others(35): Show c.182-10976_182-10961delTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57756208	TATACACA others(9): Show TATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02965.hp1 others(2): Show HG02055.hp2 HG02451.hp1 HG02965.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0001 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0003g0195 a0001c0001t0026g0311	5	314	0.0159	-16	c.-25 others(35): Show c.-25-24392_-25-24377delGTGTGTGTGTGTGTAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57764247	CTTCCTTC others(9): Show CTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp2 HG03516.hp2 others(2): Show HG02818.hp1 HG03209.hp2 HG03516.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0122 a0001c0001t0007g0212 a0001c0001t0007g0247 others(2): Show a0001c0001t0004g0122 a0001c0001t0007g0212 a0001c0001t0007g0247 a0001c0001t0007g0252 a0001c0001t0011g0172	5	314	0.0159	-16	c.-25 others(35): Show c.-25-32431_-25-32416delAGAAGGAAGGAAGGAA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57789499	CACCACTT others(9): Show CACCACTTTGTTATACT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0263 a0001c0001t0007g0263	1	314	0.0032	-16	c.-26 others(35): Show c.-26+13483_-26+13498delAGTATAACAAAGTGGT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B2_chr1_154320525_154356304	154355219	AACACACA others(9): Show AACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00639.hp1 HG01978.hp2 others(23): Show HG00609.hp2 HG00639.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02155.hp1 HG02451.hp2 HG02523.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03225.hp1 HG04184.hp1 NA18522.hp2 NA18939.hp2 NA18951.hp2 NA18961.hp1 NA18977.hp1 NA19010.hp2 NA19060.hp1 NA19077.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0010 a0010c0019	a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0023 a0001c0001t0027 a0001c0003t0002 a0001c0003t0009 a0001c0004t0006 a0001c0005t0006 a0001c0005t0016 a0001c0010t0001 a0010c0019t0002	a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0019 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0014g0013 a0001c0001t0023g0019 a0001c0001t0027g0084 a0001c0003t0002g0004 a0001c0003t0009g0092 a0001c0004t0006g0148 a0001c0005t0006g0008 a0001c0005t0016g0008 a0001c0010t0001g0023 a0010c0019t0002g0004	26	382	0.0681	-16	c.61 others(27): Show c.6102_*6117delACACACACACACACAC	ATP8B2	ENSG00000143515.20	transcript	ENST00000368489.6	protein_coding		3916		chr1	TogoVar
ATP8B3_chr19_1777075_1817276	1787728	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01258.hp1 HG03098.hp2 others(1): Show HG01071.hp1 HG01258.hp1 HG03098.hp2 HG04184.hp2	a0000 a0000	a0000c0020 a0000c0023 a0000c0032 others(1): Show a0000c0020 a0000c0023 a0000c0032 a0000c0035	a0000c0020t0008 a0000c0023t0007 a0000c0032t0007 others(1): Show a0000c0020t0008 a0000c0023t0007 a0000c0032t0007 a0000c0035t0007	a0000c0020t0008g0378 a0000c0023t0007g0106 a0000c0032t0007g0130 others(1): Show a0000c0020t0008g0378 a0000c0023t0007g0106 a0000c0032t0007g0130 a0000c0035t0007g0166	4	390	0.0103	-16	c.307 others(33): Show c.3070-558_3070-543delTTTTTTTTTTTTTTTT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	24/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1795784	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG02083.hp2 others(7): Show HG00099.hp1 HG01175.hp1 HG02083.hp2 HG02132.hp1 HG02559.hp2 HG02647.hp1 HG03130.hp2 HG03490.hp2 HG03540.hp1 NA20805.hp2	a0000 a0001 a0002 others(2): Show a0000 a0001 a0002 a0003 a0004	a0000c0020 a0000c0060 a0001c0004 others(6): Show a0000c0020 a0000c0060 a0001c0004 a0001c0028 a0002c0009 a0003c0002 a0004c0012 a0004c0015 a0004c0016	a0000c0020t0007 a0000c0060t0007 a0001c0004t0003 others(6): Show a0000c0020t0007 a0000c0060t0007 a0001c0004t0003 a0001c0028t0009 a0002c0009t0006 a0003c0002t0002 a0004c0012t0001 a0004c0015t0002 a0004c0016t0002	a0000c0020t0007g0008 a0000c0060t0007g0135 a0001c0004t0003g0159 others(7): Show a0000c0020t0007g0008 a0000c0060t0007g0135 a0001c0004t0003g0159 a0001c0028t0009g0007 a0002c0009t0006g0284 a0003c0002t0002g0005 a0004c0012t0001g0113 a0004c0015t0002g0218 a0004c0016t0002g0111 a0004c0016t0002g0112	10	390	0.0256	-16	c.205 others(31): Show c.2055+75_2055+90delGTGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1795832	CACACACA others(9): Show CACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0000 a0000	a0000c0020 a0000c0020	a0000c0020t0008 a0000c0020t0008	a0000c0020t0008g0378 a0000c0020t0008g0378	1	390	0.0026	-16	c.205 others(31): Show c.2055+27_2055+42delATGTGTGTGTGTGTGT	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	18/28			chr19	TogoVar
ATP8B3_chr19_1777075_1817276	1797468	TTTTATTT others(9): Show TTTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01109.hp2 others(23): Show HG00140.hp1 HG00642.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG02055.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(1): Show a0000 a0001 a0002 a0008	a0000c0020 a0000c0023 a0000c0027 others(12): Show a0000c0020 a0000c0023 a0000c0027 a0000c0029 a0000c0038 a0001c0001 a0001c0004 a0001c0008 a0001c0011 a0001c0028 a0002c0003 a0002c0007 a0002c0009 a0002c0026 a0008c0075	a0000c0020t0007 a0000c0023t0007 a0000c0027t0008 others(13): Show a0000c0020t0007 a0000c0023t0007 a0000c0027t0008 a0000c0029t0007 a0000c0038t0007 a0001c0001t0001 a0001c0004t0003 a0001c0004t0005 a0001c0008t0003 a0001c0011t0001 a0001c0028t0009 a0002c0003t0005 a0002c0007t0004 a0002c0009t0006 a0002c0026t0012 a0008c0075t0009	a0000c0020t0007g0008 a0000c0023t0007g0048 a0000c0023t0007g0106 others(22): Show a0000c0020t0007g0008 a0000c0023t0007g0048 a0000c0023t0007g0106 a0000c0027t0008g0250 a0000c0029t0007g0052 a0000c0038t0007g0178 a0000c0038t0007g0179 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0004t0003g0055 a0001c0004t0003g0094 a0001c0004t0005g0376 a0001c0008t0003g0206 a0001c0011t0001g0203 a0001c0011t0001g0205 a0001c0028t0009g0007 a0002c0003t0005g0281 a0002c0003t0005g0286 a0002c0003t0005g0364 a0002c0003t0005g0372 a0002c0007t0004g0002 a0002c0009t0006g0269 a0002c0009t0006g0288 a0002c0026t0012g0282 a0008c0075t0009g0204	26	390	0.0667	-16	c.155 others(33): Show c.1553-479_1553-464delTAAATAAATAAATAAA	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	14/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	49857130	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG03225.hp1 HG02615.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0028 a0001c0001t0015 a0001c0001t0028	a0001c0001t0015g0012 a0001c0001t0028g0175 a0001c0001t0015g0012 a0001c0001t0028g0175	2	254	0.0079	-16	c.30 others(27): Show c.3048_*3063delTAGAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding		1107		chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50021118	TGATAGAT others(9): Show TGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG01069.hp2 others(9): Show HG00323.hp2 HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01167.hp2 HG01257.hp1 HG01258.hp2 HG02970.hp2 HG03490.hp1 HG03492.hp2 NA18906.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0008c0008t0005	a0003c0003t0001g0001 a0003c0003t0001g0125 a0003c0003t0001g0126 others(8): Show a0003c0003t0001g0001 a0003c0003t0001g0125 a0003c0003t0001g0126 a0003c0003t0001g0224 a0003c0003t0002g0004 a0003c0003t0003g0140 a0003c0003t0003g0141 a0003c0003t0003g0234 a0003c0003t0003g0246 a0003c0003t0004g0082 a0008c0008t0005g0100	12	254	0.0472	-16	c.363 others(35): Show c.363-10217_363-10202delTATCTATCTATCTATC	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	6/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072968	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01516.hp1 HG01517.hp1 others(1): Show HG00639.hp2 HG01516.hp1 HG01517.hp1 HG02145.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0003c0003t0001 a0001c0001t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0001g0177 a0001c0001t0003g0169 a0001c0001t0003g0170 others(1): Show a0001c0001t0001g0177 a0001c0001t0003g0169 a0001c0001t0003g0170 a0003c0003t0001g0247	4	254	0.0158	-16	c.87+ others(31): Show c.87+1143_87+1158delTATAGAGAGAGAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072976	CTCTCTAT others(9): Show CTCTCTATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0109 a0003c0003t0001g0109	1	254	0.0039	-16	c.87+ others(31): Show c.87+1135_87+1150delTATATATATATAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073011	TATATATA others(9): Show TATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02486.hp1 HG00735.hp1 HG02486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0113 a0002c0002t0001g0155 a0001c0001t0001g0113 a0002c0002t0001g0155	2	254	0.0079	-16	c.87+ others(31): Show c.87+1100_87+1115delGTGTGTGTATATATAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50073019	TACACACA others(9): Show TACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	254	0.0039	-16	c.87+ others(31): Show c.87+1092_87+1107delGTGTGTGTGTGTGTGT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086199	AAAATAAT others(9): Show AAAATAATATAGAGATC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	254	0.0039	-16	c.29- others(33): Show c.29-12030_29-12015delGATCTCTATATTATTT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50098266	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(35): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00609.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01515.hp2 HG01517.hp2 HG01981.hp2 HG02027.hp2 HG02165.hp1 HG02293.hp1 HG02735.hp2 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp2 NA18949.hp2 NA18951.hp2 NA18953.hp1 NA18963.hp2 NA18969.hp1 NA18973.hp1 NA18977.hp2 NA18983.hp2 NA18995.hp1 NA19003.hp2 NA19007.hp2 NA19054.hp1 NA19064.hp2 NA19083.hp1 NA19084.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0014	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0026 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0003c0003t0001 a0003c0003t0003 a0005c0005t0001 a0014c0016t0001	a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 others(34): Show a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0002g0008 a0001c0001t0003g0199 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0210 a0001c0001t0007g0007 a0001c0001t0007g0070 a0001c0001t0026g0233 a0002c0002t0001g0118 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0202 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0002g0009 a0002c0002t0003g0221 a0003c0003t0001g0001 a0003c0003t0001g0193 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0222 a0003c0003t0003g0234 a0005c0005t0001g0207 a0014c0016t0001g0212	38	254	0.1496	-16	c.28+ others(31): Show c.28+8657_28+8672delAAAAAAAAAAAAAAAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(9): Show TTTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18973.hp1 NA18983.hp1 others(1): Show HG02015.hp2 NA18973.hp1 NA18983.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0023 a0001c0001t0001 a0001c0001t0006 a0001c0001t0023	a0001c0001t0001g0027 a0001c0001t0001g0211 a0001c0001t0006g0299 others(1): Show a0001c0001t0001g0027 a0001c0001t0001g0211 a0001c0001t0006g0299 a0001c0001t0023g0036	4	312	0.0128	-16	c.166 others(35): Show c.1668+1258_1668+1273delTATATATATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	TTATATAT others(9): Show TTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0131 a0001c0003t0022g0131	1	312	0.0032	-16	c.166 others(35): Show c.1668+1256_1668+1271delTATATATATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51679283	CACTGTAC others(9): Show CACTGTACTCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp2 HG02723.hp2 HG02451.hp1 HG02572.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0007 a0001c0002t0002 a0001c0002t0007	a0001c0002t0002g0005 a0001c0002t0007g0006 a0001c0002t0007g0016 a0001c0002t0002g0005 a0001c0002t0007g0006 a0001c0002t0007g0016	3	312	0.0096	-16	c.800 others(33): Show c.800-3091_800-3076delCAGGCTGGAGTACAGT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	9/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51695905	ACAATCTA others(9): Show ACAATCTATTGACTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 NA18522.hp2 HG02258.hp1 HG02630.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0031 a0001c0003t0015 a0001c0003t0031	a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0031g0120 a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0031g0120	3	312	0.0096	-16	c.547 others(31): Show c.547+172_547+187delAAAAGTCAATAGATTG	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	6/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79136119	GTATTAAT others(9): Show GTATTAATACAACTAAT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp1 HG02572.hp2 others(1): Show HG01106.hp2 HG01884.hp1 HG02572.hp2 HG02818.hp2	a0001 a0001	a0001c0004 a0001c0037 a0001c0004 a0001c0037	a0001c0004t0003 a0001c0037t0003 a0001c0004t0003 a0001c0037t0003	a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 others(1): Show a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 a0001c0037t0003g0104	4	298	0.0134	-16	c.668 others(33): Show c.668-7664_668-7649delTTAATACAACTAATTA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79223837	ACTGATAG others(9): Show ACTGATAGCATCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02055.hp2 HG02630.hp2 others(1): Show HG01952.hp2 HG02055.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0003 a0001c0004t0002 a0001c0004t0003	a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 others(1): Show a0001c0004t0002g0095 a0001c0004t0002g0096 a0001c0004t0002g0097 a0001c0004t0003g0098	4	298	0.0134	-16	c.110 others(35): Show c.1107+9801_1107+9816delTGATAGCATCTGGGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326861	CCTGTGCT others(9): Show CCTGTGCTGACTGTCCA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	298	0.0034	-16	c.177 others(35): Show c.1774-2258_1774-2243delCTGACTGTCCACTGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar

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