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
ATP6V0E1_chr5_172978771_173040445	173032253	A A	ATTTTAT ATTTTAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01934.hp1 HG02486.hp2 others(5): Show HG01070.hp1 HG01934.hp1 HG02486.hp2 HG02723.hp2 HG03130.hp2 HG03195.hp2 HG03831.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0227 others(5): Show a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0002g0061 a0001c0001t0002g0214 a0001c0001t0002g0225 a0001c0001t0002g0283	8	292	0.0274	6	c.37 others(23): Show c.37-2143_*37-2142insTATTTT	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1A_chr3_113742035_113817056	113802249	C C	CAAACTT CAAACTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(126): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG01069.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03669.hp1 HG03688.hp1 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18971.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18988.hp2 NA18991.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19075.hp2 NA19081.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0001g0224 others(114): Show a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0001g0224 a0001c0001t0001g0275 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0004g0018 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0006g0010 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0007g0281 a0001c0001t0007g0282 a0001c0001t0010g0005 a0001c0001t0011g0112 a0001c0001t0012g0062 a0001c0001t0013g0051 a0001c0001t0014g0019 a0001c0001t0016g0027 a0001c0001t0019g0283	129	312	0.4135	6	c.149 others(25): Show c.1495-1332_1495-1331insACTTAA	ATP6V1A	ENSG00000114573.12	transcript	ENST00000273398.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945699	G G	GATATAT GATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG04199.hp1 NA18952.hp2 others(10): Show HG02165.hp2 HG04199.hp1 NA18952.hp2 NA18971.hp1 NA18978.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19055.hp2 NA19074.hp2 NA19077.hp2 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0002c0010 a0002c0011 a0003c0016	a0001c0001t0003 a0001c0002t0001 a0001c0005t0001 others(4): Show a0001c0001t0003 a0001c0002t0001 a0001c0005t0001 a0001c0007t0001 a0002c0010t0002 a0002c0011t0002 a0003c0016t0001	a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0002t0001g0014 others(9): Show a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0002t0001g0014 a0001c0002t0001g0139 a0001c0002t0001g0158 a0001c0002t0001g0175 a0001c0002t0001g0202 a0001c0005t0001g0058 a0001c0007t0001g0191 a0002c0010t0002g0359 a0002c0011t0002g0353 a0003c0016t0001g0263	13	440	0.0296	6	c.174 others(23): Show c.174+1987_174+1988insTATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70945701	G G	GATATAT GATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01346.hp2 HG02258.hp1 others(7): Show HG01074.hp2 HG01346.hp2 HG02258.hp1 HG02683.hp1 HG02818.hp2 HG03195.hp2 HG03490.hp2 NA18942.hp2 NA18981.hp2 NA19002.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0005 a0001c0007 a0001c0035 others(5): Show a0001c0005 a0001c0007 a0001c0035 a0002c0003 a0002c0006 a0003c0004 a0003c0023 a0010c0030	a0001c0005t0001 a0001c0007t0001 a0001c0035t0004 others(5): Show a0001c0005t0001 a0001c0007t0001 a0001c0035t0004 a0002c0003t0001 a0002c0006t0001 a0003c0004t0001 a0003c0023t0001 a0010c0030t0001	a0001c0005t0001g0103 a0001c0007t0001g0172 a0001c0035t0004g0166 others(7): Show a0001c0005t0001g0103 a0001c0007t0001g0172 a0001c0035t0004g0166 a0002c0003t0001g0297 a0002c0003t0001g0413 a0002c0003t0001g0414 a0002c0006t0001g0343 a0003c0004t0001g0246 a0003c0023t0001g0259 a0010c0030t0001g0372	10	440	0.0227	6	c.174 others(23): Show c.174+2024_174+2029dupTATATA	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70950932	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 NA18943.hp2 others(4): Show HG02451.hp2 HG02572.hp1 NA18943.hp2 NA18956.hp1 NA18964.hp2 NA19043.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0010 others(1): Show a0001c0001 a0001c0005 a0002c0010 a0002c0011	a0001c0001t0006 a0001c0005t0001 a0002c0010t0002 others(1): Show a0001c0001t0006 a0001c0005t0001 a0002c0010t0002 a0002c0011t0002	a0001c0001t0006g0408 a0001c0005t0001g0042 a0001c0005t0001g0197 others(4): Show a0001c0001t0006g0408 a0001c0005t0001g0042 a0001c0005t0001g0197 a0002c0010t0002g0346 a0002c0010t0002g0347 a0002c0010t0002g0360 a0002c0011t0002g0353	7	440	0.0159	6	c.175 others(23): Show c.175-7092_175-7087dupTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70957250	A A	AATGTAT AATGTAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01167.hp1 others(24): Show HG00408.hp1 HG00438.hp2 HG01167.hp1 HG01169.hp2 HG01255.hp1 HG02258.hp1 HG02451.hp2 HG02698.hp2 HG02896.hp1 HG02976.hp2 HG03453.hp1 HG03490.hp2 HG03669.hp2 HG03704.hp1 HG03927.hp1 HG04184.hp1 NA18747.hp2 NA18943.hp2 NA18951.hp2 NA18956.hp1 NA18970.hp1 NA18983.hp1 NA19006.hp1 NA19043.hp1 NA19068.hp2 NA19088.hp2 NA20129.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0010	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0034 a0001c0035 a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0018 a0006c0033 a0010c0030	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0034t0001 a0001c0035t0004 a0002c0003t0001 a0002c0006t0001 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0018t0002 a0006c0033t0001 a0010c0030t0001	a0001c0001t0001g0010 a0001c0001t0001g0123 a0001c0002t0001g0126 others(23): Show a0001c0001t0001g0010 a0001c0001t0001g0123 a0001c0002t0001g0126 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0169 a0001c0005t0001g0042 a0001c0005t0001g0122 a0001c0005t0001g0197 a0001c0034t0001g0120 a0001c0035t0004g0166 a0002c0003t0001g0345 a0002c0006t0001g0355 a0002c0006t0001g0398 a0002c0008t0002g0365 a0002c0010t0002g0347 a0002c0010t0002g0348 a0002c0010t0002g0356 a0002c0010t0002g0358 a0002c0010t0002g0360 a0002c0010t0002g0406 a0002c0011t0002g0353 a0002c0018t0002g0341 a0006c0033t0001g0147 a0010c0030t0001g0372	27	440	0.0614	6	c.175 others(21): Show c.175-794_175-793insGTATAT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B1_chr2_70930900_70970431	70964114	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG01255.hp2 others(18): Show HG00738.hp2 HG01255.hp1 HG01255.hp2 HG02615.hp1 HG02738.hp2 HG02809.hp2 HG02976.hp2 HG03491.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18943.hp2 NA18964.hp1 NA18973.hp2 NA18997.hp2 NA19030.hp2 NA19084.hp1 NA19091.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0005 a0002c0003 others(3): Show a0001c0002 a0001c0005 a0002c0003 a0002c0008 a0002c0010 a0003c0009	a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 others(3): Show a0001c0002t0001 a0001c0005t0001 a0002c0003t0001 a0002c0008t0002 a0002c0010t0002 a0003c0009t0001	a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0131 others(18): Show a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0131 a0001c0002t0001g0151 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0175 a0001c0002t0001g0193 a0001c0002t0001g0198 a0001c0005t0001g0119 a0001c0005t0001g0122 a0002c0003t0001g0271 a0002c0008t0002g0344 a0002c0008t0002g0369 a0002c0008t0002g0404 a0002c0010t0002g0293 a0002c0010t0002g0322 a0002c0010t0002g0347 a0002c0010t0002g0361 a0002c0010t0002g0362 a0003c0009t0001g0230	21	440	0.0477	6	c.114 others(23): Show c.1144-307_1144-302dupTTTTTT	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP6V1B2_chr8_20192381_20226696	20196736	A A	AAAGAAG AAAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02818.hp2 HG03098.hp2 others(1): Show HG02647.hp2 HG02818.hp2 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0045 a0001c0001t0001g0187 a0001c0001t0006g0128 a0001c0001t0001g0045 a0001c0001t0001g0187 a0001c0001t0006g0128	4	402	0.0100	6	c.-67 others(15): Show c.-671_-670insAAGAAG	ATP6V1B2	ENSG00000147416.11	transcript	ENST00000276390.7	protein_coding		644		chr8	TogoVar
ATP6V1C2_chr2_10716630_10790110	10788065	C C	CAAAAAA CAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG02080.hp1 others(5): Show HG00558.hp1 HG00621.hp2 HG02080.hp1 HG02080.hp2 HG03195.hp2 NA18943.hp1 NA19002.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0004	a0001c0001t0002 a0002c0002t0002 a0002c0003t0002 others(1): Show a0001c0001t0002 a0002c0002t0002 a0002c0003t0002 a0002c0004t0005	a0001c0001t0002g0003 a0001c0001t0002g0198 a0001c0001t0002g0199 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0344 a0002c0002t0002g0171 a0002c0003t0002g0009 a0002c0004t0005g0109	8	354	0.0226	6	c.48 others(17): Show c.4802_*4803insAAAAAA	ATP6V1C2	ENSG00000143882.12	transcript	ENST00000272238.9	protein_coding		2956		chr2	TogoVar
ATP6V1E1_chr22_17587136_17633749	17599577	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp1 HG01081.hp1 others(22): Show HG00140.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01361.hp1 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02148.hp2 HG02300.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG04204.hp1 NA18956.hp2 NA18963.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19056.hp1 NA19057.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0004c0008t0002	a0001c0001t0002g0267 a0001c0001t0003g0259 a0001c0001t0003g0282 others(20): Show a0001c0001t0002g0267 a0001c0001t0003g0259 a0001c0001t0003g0282 a0001c0001t0004g0010 a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0305 a0001c0001t0014g0324 a0004c0008t0002g0193	25	370	0.0676	6	c.435 others(21): Show c.435+444_435+449dupTTTTTT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	6/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17604526	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00738.hp1 others(40): Show HG00323.hp2 HG00639.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01109.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG02055.hp1 HG02148.hp2 HG02280.hp2 HG02300.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG04204.hp1 NA18963.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18991.hp1 NA18994.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19065.hp1 NA19084.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0051 a0001c0001t0001g0141 a0001c0001t0001g0142 others(38): Show a0001c0001t0001g0051 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0002g0250 a0001c0001t0003g0243 a0001c0001t0003g0282 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0004g0010 a0001c0001t0004g0194 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0227 a0001c0001t0004g0305	43	370	0.1162	6	c.277 others(23): Show c.277-3351_277-3346dupAAAAAA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	4/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17626325	A A	AAAAAAG AAAAAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01109.hp2 HG01884.hp2 others(9): Show HG00673.hp1 HG01109.hp2 HG01884.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG03491.hp1 HG03491.hp2 HG04204.hp1 NA18972.hp1 NA18993.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014	a0001c0001t0002g0235 a0001c0001t0002g0283 a0001c0001t0002g0297 others(9): Show a0001c0001t0002g0235 a0001c0001t0002g0283 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0014g0324	12	370	0.0324	6	c.33+ others(21): Show c.33+2277_33+2278insCTTTTT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding	1/8			chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17629818	T T	TACACAC TACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02055.hp2 HG02280.hp1 others(14): Show HG00673.hp1 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02602.hp1 HG03098.hp1 HG03486.hp1 NA18906.hp1 NA18952.hp1 NA18953.hp1 NA18961.hp1 NA18975.hp2 NA18989.hp2 NA18993.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0002t0009	a0001c0001t0002g0255 a0001c0001t0002g0265 a0001c0001t0002g0284 others(14): Show a0001c0001t0002g0255 a0001c0001t0002g0265 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0003g0195 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0303 a0001c0001t0014g0324 a0001c0002t0009g0204	17	370	0.0460	6	c.-11 others(17): Show c.-1189_-1184dupGTGTGT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		1070		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631670	G G	GTGTGTA GTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18980.hp2 NA19011.hp1 NA18959.hp2 NA18980.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0078 a0001c0001t0001g0163 a0001c0001t0007g0124 a0001c0001t0001g0078 a0001c0001t0001g0163 a0001c0001t0007g0124	3	370	0.0081	6	c.-30 others(17): Show c.-3036_-3035insTACACA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2922		chr22	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518490	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02040.hp2 HG02155.hp2 others(11): Show HG01884.hp2 HG02040.hp2 HG02155.hp2 HG02647.hp1 NA18948.hp1 NA18952.hp1 NA18991.hp1 NA19003.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19077.hp2 NA19083.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0001 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0252 others(10): Show a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0252 a0001c0001t0001g0287 a0001c0001t0003g0175 a0001c0001t0006g0018 a0001c0001t0006g0054 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0058 a0001c0001t0006g0060 a0001c0001t0006g0086 a0001c0001t0006g0195	14	410	0.0342	6	c.-10 others(25): Show c.-101-5684_-101-5679dupGTGTGT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46518758	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01099.hp2 others(13): Show HG01070.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp2 HG01168.hp2 HG01928.hp2 HG01934.hp2 HG02040.hp1 HG02148.hp2 HG02293.hp2 HG02738.hp2 HG03490.hp2 HG03710.hp1 NA19005.hp1 NA19006.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0046 others(11): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 a0001c0001t0001g0241 a0001c0001t0005g0172 a0001c0001t0006g0059 a0001c0001t0006g0086	16	410	0.0390	6	c.-10 others(25): Show c.-101-5952_-101-5947dupCACACA	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1E2_chr2_46506847_46547577	46525461	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp2 HG01106.hp1 others(20): Show HG00280.hp1 HG00597.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01346.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG02148.hp2 HG02155.hp2 HG02738.hp2 HG02886.hp1 HG03710.hp1 HG04228.hp1 NA18942.hp2 NA18951.hp1 NA18952.hp1 NA18991.hp1 NA18998.hp1 NA19011.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0046 others(18): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0290 a0001c0001t0006g0055 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0060	23	410	0.0561	6	c.-10 others(27): Show c.-102+10346_-102+10351dupTTTTTT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding	4/4			chr2	TogoVar
ATP6V1F_chr7_128857856_128870847	128858576	T T	TACACAC TACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02818.hp1 HG03225.hp1 HG02451.hp1 HG02818.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0025 a0001c0001t0001g0030	3	442	0.0068	6	c.-43 others(17): Show c.-4329_-4328insACACAC	ATP6V1F	ENSG00000128524.5	transcript	ENST00000249289.5	protein_coding		4279		chr7	TogoVar
ATP6V1G1_chr9_114582769_114603879	114588510	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02717.hp2 HG02809.hp2 others(3): Show HG01934.hp1 HG02717.hp2 HG02809.hp2 HG03492.hp1 HG04204.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0032 a0001c0001t0002g0076 a0001c0001t0003g0077 others(1): Show a0001c0001t0001g0032 a0001c0001t0002g0076 a0001c0001t0003g0077 a0001c0001t0006g0033	6	420	0.0143	6	c.82+ others(19): Show c.82+615_82+620dupGTGTGT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ATP6V1G1_chr9_114582769_114603879	114598990	G G	GTTTTTT GTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02559.hp1 HG02559.hp2 others(8): Show HG01891.hp2 HG02559.hp1 HG02559.hp2 HG02723.hp1 HG03041.hp2 HG03130.hp2 HG03239.hp1 HG03831.hp2 HG04115.hp2 NA18972.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0024 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0002g0034 a0001c0001t0003g0002	11	420	0.0262	6	c.12 others(17): Show c.1247_*1248insTTTTTT	ATP6V1G1	ENSG00000136888.8	transcript	ENST00000374050.4	protein_coding		112		chr9	TogoVar
ATP6V1G3_chr1_198518222_198545680	198529195	A A	AATATAT AATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02572.hp2 HG02809.hp2 others(2): Show HG02258.hp1 HG02572.hp2 HG02809.hp2 HG02818.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0092 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0092	5	405	0.0124	6	c.83- others(17): Show c.83-20_83-15dupATATAT	ATP6V1G3	ENSG00000151418.12	transcript	ENST00000367382.6	protein_coding	1/2			chr1	TogoVar
ATP6V1H_chr8_53710543_53848245	53798610	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp2 HG00621.hp1 others(63): Show HG00423.hp2 HG00609.hp2 HG00621.hp1 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 HG02155.hp2 HG02300.hp2 HG02559.hp1 HG02809.hp1 HG02896.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03669.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18953.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19006.hp1 NA19060.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0002 a0001c0001t0001 a0001c0001t0002 a0002c0004t0002	a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0001t0002g0011 others(63): Show a0001c0001t0001g0010 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0263 a0001c0001t0002g0264 a0002c0004t0002g0133	66	286	0.2308	6	c.678 others(23): Show c.678-2777_678-2772dupGTGTGT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	8/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819547	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01258.hp1 HG01981.hp2 others(7): Show HG01109.hp1 HG01258.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02083.hp2 HG02129.hp1 HG02818.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 others(7): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0229	10	286	0.0350	6	c.307 others(23): Show c.307-2023_307-2018dupATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53819585	T T	TATATAA TATATAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01257.hp2 HG03017.hp2 others(3): Show HG01169.hp2 HG01257.hp2 HG03017.hp2 NA18961.hp1 NA19070.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 others(3): Show a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0104 a0001c0001t0002g0125 a0001c0001t0002g0171	6	286	0.0210	6	c.307 others(23): Show c.307-2056_307-2055insTTATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP7A_chrX_77905693_78055395	77932919	G G	GGGGAGA GGGGAGA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01884.hp2 others(2): Show HG01167.hp1 HG01169.hp2 HG01884.hp2 HG02451.hp1 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0009 a0004c0004t0009	a0004c0004t0009g0131 a0004c0004t0009g0132 a0004c0004t0009g0133 others(2): Show a0004c0004t0009g0131 a0004c0004t0009g0132 a0004c0004t0009g0133 a0004c0004t0009g0134 a0004c0004t0009g0135	5	233	0.0215	6	c.-22 others(25): Show c.-22+22110_-22+22115dupGGAGAG	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	1/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77987444	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG01081.hp2 others(22): Show HG00558.hp2 HG00733.hp2 HG01081.hp2 HG01496.hp2 HG01943.hp1 HG02015.hp1 HG02165.hp2 HG02280.hp1 HG02615.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG03139.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03831.hp2 NA18948.hp1 NA18949.hp2 NA18954.hp1 NA18962.hp1 NA18965.hp1 NA18970.hp1 NA19001.hp2 NA19074.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0001c0014 a0002c0002 others(2): Show a0001c0001 a0001c0014 a0002c0002 a0005c0006 a0011c0015	a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0029 a0001c0014t0005 a0002c0002t0003 a0002c0002t0013 a0005c0006t0008 a0011c0015t0005	a0001c0001t0004g0143 a0001c0001t0005g0010 a0001c0001t0005g0125 others(22): Show a0001c0001t0004g0143 a0001c0001t0005g0010 a0001c0001t0005g0125 a0001c0001t0005g0128 a0001c0001t0005g0130 a0001c0001t0005g0142 a0001c0001t0005g0145 a0001c0001t0005g0148 a0001c0001t0005g0224 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0010g0020 a0001c0001t0011g0225 a0001c0001t0011g0226 a0001c0001t0029g0019 a0001c0014t0005g0146 a0002c0002t0003g0046 a0002c0002t0003g0063 a0002c0002t0003g0066 a0002c0002t0003g0085 a0002c0002t0003g0222 a0002c0002t0013g0075 a0005c0006t0008g0119 a0005c0006t0008g0120 a0011c0015t0005g0127	25	233	0.1073	6	c.121 others(21): Show c.121-760_121-755dupGTGTGT	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	77987455	T T	TGTGTGC TGTGTGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	233	0.0043	6	c.121 others(21): Show c.121-782_121-781insCGTGTG	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	2/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78002799	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19066.hp1 NA20129.hp1 HG02922.hp2 NA19066.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0008 a0002c0002t0002 a0001c0001t0003 a0001c0001t0008 a0002c0002t0002	a0001c0001t0003g0015 a0001c0001t0008g0123 a0002c0002t0002g0044 a0001c0001t0003g0015 a0001c0001t0008g0123 a0002c0002t0002g0044	3	233	0.0129	6	c.154 others(23): Show c.1544-234_1544-229dupCACACA	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	5/22		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP7A_chrX_77905693_78055395	78047554	T T	TTTGTTG TTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	233	0.0043	6	c.10 others(17): Show c.1012_*1017dupTTGTTG	ATP7A	ENSG00000165240.22	transcript	ENST00000341514.11	protein_coding	23/23	1018	INFO_REALIGN_3_PRIME	chrX	TogoVar
ATP8A1_chr4_42403373_42662105	42435461	A A	AAAAAAC AAAAAAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG01257.hp2 others(13): Show HG00408.hp1 HG00438.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01516.hp2 HG01978.hp2 HG02015.hp2 HG02129.hp2 HG03654.hp1 NA18941.hp2 NA18943.hp1 NA18990.hp1 NA19011.hp1 NA19056.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0006g0230 others(13): Show a0001c0001t0006g0210 a0001c0001t0006g0222 a0001c0001t0006g0230 a0001c0001t0006g0232 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0006g0258 a0001c0001t0007g0052 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0102 a0001c0001t0007g0119 a0001c0001t0007g0151	16	310	0.0516	6	c.312 others(25): Show c.3123+8103_3123+8104insGTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	33/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42468430	T T	TACACAC TACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01993.hp2 HG02273.hp2 others(4): Show HG01515.hp1 HG01993.hp2 HG02273.hp2 HG02300.hp2 HG02735.hp2 HG03017.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011	a0001c0001t0001g0112 a0001c0001t0002g0105 a0001c0001t0008g0077 others(4): Show a0001c0001t0001g0112 a0001c0001t0002g0105 a0001c0001t0008g0077 a0001c0001t0008g0120 a0001c0001t0011g0002 a0001c0001t0011g0006 a0001c0001t0011g0007	7	310	0.0226	6	c.232 others(25): Show c.2325-3360_2325-3355dupGTGTGT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42479996	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01169.hp1 HG01243.hp2 others(8): Show HG01099.hp2 HG01169.hp1 HG01243.hp2 HG01361.hp1 HG02145.hp2 HG02257.hp1 HG02523.hp2 HG02818.hp2 HG02897.hp2 HG03041.hp2 HG03139.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0005 a0001c0002t0016 a0002c0005t0004 a0002c0007t0001	a0001c0001t0001g0053 a0001c0001t0003g0267 a0001c0001t0003g0268 others(8): Show a0001c0001t0001g0053 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0004g0031 a0001c0002t0005g0191 a0001c0002t0016g0026 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0007t0001g0133	11	310	0.0355	6	c.232 others(25): Show c.2324+5494_2324+5499dupCACACA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	25/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42507729	C C	CAAAAAA CAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(27): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02602.hp2 HG04204.hp2 HG04228.hp2 NA18940.hp2 NA18960.hp2 NA18968.hp1 NA18978.hp2 NA18988.hp2 NA18994.hp2 NA19009.hp2 NA19011.hp1 NA19056.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0035 a0001c0002t0013 a0001c0003t0001 a0001c0008t0006	a0001c0001t0001g0152 a0001c0001t0006g0192 a0001c0001t0006g0193 others(27): Show a0001c0001t0001g0152 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0222 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0001t0006g0238 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0252 a0001c0001t0006g0300 a0001c0001t0007g0052 a0001c0001t0007g0070 a0001c0001t0007g0083 a0001c0001t0007g0088 a0001c0001t0007g0089 a0001c0001t0007g0101 a0001c0001t0007g0102 a0001c0001t0007g0115 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0123 a0001c0001t0007g0125 a0001c0001t0007g0130 a0001c0001t0007g0154 a0001c0001t0008g0100 a0001c0001t0035g0244 a0001c0002t0013g0108 a0001c0003t0001g0173 a0001c0008t0006g0198	30	310	0.0968	6	c.194 others(23): Show c.1948-581_1948-576dupTTTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	22/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42558030	T T	TCAAAAA TCAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02257.hp2 others(14): Show HG01099.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03225.hp1 HG03516.hp2 HG03579.hp1 NA18978.hp1 NA19012.hp2 NA19058.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0032 a0001c0002t0004 a0002c0005t0004 a0002c0005t0019 a0002c0005t0031 a0002c0005t0034 a0002c0007t0001	a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 others(14): Show a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0004g0031 a0001c0001t0032g0279 a0001c0002t0004g0018 a0002c0005t0004g0037 a0002c0005t0004g0041 a0002c0005t0004g0113 a0002c0005t0019g0138 a0002c0005t0019g0139 a0002c0005t0031g0307 a0002c0005t0034g0305 a0002c0007t0001g0133	17	310	0.0548	6	c.134 others(25): Show c.1341-1996_1341-1991dupTTTTTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	15/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42601535	A A	AAAAAAT AAAAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(48): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp2 HG00738.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01993.hp2 HG02015.hp2 HG02155.hp1 HG02258.hp1 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02735.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03195.hp2 HG03471.hp1 HG03704.hp1 HG03927.hp2 HG06807.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp2 NA18978.hp1 NA18980.hp1 NA18990.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19079.hp1 NA19085.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0028 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0004t0003 a0001c0004t0010	a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0063 others(48): Show a0001c0001t0001g0050 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0002g0014 a0001c0001t0002g0054 a0001c0001t0002g0075 a0001c0001t0002g0144 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0259 a0001c0001t0003g0266 a0001c0001t0004g0025 a0001c0001t0004g0076 a0001c0001t0005g0199 a0001c0001t0005g0256 a0001c0001t0005g0282 a0001c0001t0005g0309 a0001c0001t0006g0239 a0001c0001t0006g0240 a0001c0001t0006g0242 a0001c0001t0006g0245 a0001c0001t0006g0251 a0001c0001t0006g0258 a0001c0001t0007g0052 a0001c0001t0007g0070 a0001c0001t0007g0121 a0001c0001t0008g0064 a0001c0001t0008g0077 a0001c0001t0008g0137 a0001c0001t0015g0003 a0001c0001t0028g0056 a0001c0002t0004g0068 a0001c0002t0005g0189 a0001c0002t0010g0260 a0001c0004t0003g0297 a0001c0004t0010g0295	51	310	0.1645	6	c.410 others(23): Show c.410-1023_410-1018dupATTTTT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	5/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42608363	A A	ATTTTTT ATTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01069.hp1 others(37): Show HG00280.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02622.hp1 HG02738.hp2 HG02809.hp1 HG03017.hp1 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04228.hp1 NA19012.hp1 NA19070.hp2 NA19077.hp2 NA20129.hp1 NA20752.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0029 a0001c0001t0037 a0001c0002t0005 a0001c0002t0013 a0001c0002t0014 a0006c0009t0008	a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0015 others(37): Show a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0124 a0001c0001t0002g0132 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0005g0202 a0001c0001t0005g0265 a0001c0001t0009g0205 a0001c0001t0012g0302 a0001c0001t0029g0036 a0001c0001t0037g0203 a0001c0002t0005g0191 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0014g0276 a0006c0009t0008g0114	40	310	0.1290	6	c.409 others(23): Show c.409+7664_409+7669dupAAAAAA	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	5/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635780	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp1 HG03834.hp1 others(5): Show HG01192.hp1 HG02258.hp1 HG03834.hp1 NA18952.hp1 NA18968.hp2 NA18981.hp1 NA19007.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(5): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0005g0309 a0001c0001t0009g0214 a0001c0001t0009g0217	8	310	0.0258	6	c.50- others(21): Show c.50-8672_50-8671insATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A1_chr4_42403373_42662105	42635782	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02257.hp1 HG02451.hp1 others(6): Show HG01952.hp1 HG02257.hp1 HG02451.hp1 HG02717.hp1 HG02965.hp1 HG03098.hp1 HG03491.hp2 NA18968.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0003t0003 a0001c0004t0003 a0001c0004t0004 a0002c0007t0001	a0001c0001t0001g0062 a0001c0001t0003g0209 a0001c0001t0007g0070 others(6): Show a0001c0001t0001g0062 a0001c0001t0003g0209 a0001c0001t0007g0070 a0001c0001t0009g0278 a0001c0003t0003g0293 a0001c0003t0003g0296 a0001c0004t0003g0297 a0001c0004t0004g0140 a0002c0007t0001g0133	9	310	0.0290	6	c.50- others(21): Show c.50-8679_50-8674dupATATAT	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25393133	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01175.hp2 HG01243.hp1 others(25): Show HG01081.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01496.hp2 HG01981.hp1 HG02257.hp1 HG02280.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 others(24): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0016 a0001c0001t0035 a0001c0001t0046 a0001c0001t0050 a0001c0001t0054 a0001c0001t0059 a0001c0001t0072 a0001c0002t0001 a0001c0002t0010 a0001c0002t0032 a0001c0002t0070 a0001c0002t0071 a0001c0003t0006 a0001c0003t0010 a0001c0004t0002 a0001c0004t0005 a0001c0004t0068 a0001c0005t0012 a0001c0008t0057 a0001c0016t0045 a0001c0017t0036 a0001c0018t0024 a0001c0019t0007 a0001c0020t0019 a0001c0021t0055	a0001c0001t0002g0079 a0001c0001t0005g0102 a0001c0001t0016g0104 others(25): Show a0001c0001t0002g0079 a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0035g0043 a0001c0001t0046g0045 a0001c0001t0050g0025 a0001c0001t0054g0103 a0001c0001t0059g0022 a0001c0001t0072g0027 a0001c0002t0001g0031 a0001c0002t0001g0069 a0001c0002t0010g0118 a0001c0002t0032g0023 a0001c0002t0070g0068 a0001c0002t0071g0096 a0001c0003t0006g0078 a0001c0003t0010g0026 a0001c0004t0002g0080 a0001c0004t0005g0089 a0001c0004t0068g0071 a0001c0005t0012g0020 a0001c0008t0057g0070 a0001c0016t0045g0105 a0001c0017t0036g0019 a0001c0018t0024g0066 a0001c0019t0007g0029 a0001c0020t0019g0067 a0001c0021t0055g0077	28	122	0.2295	6	c.76+ others(23): Show c.76+20854_76+20859dupTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25399397	C C	CTTTTTT CTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01243.hp1 others(37): Show HG00642.hp2 HG01175.hp1 HG01243.hp1 HG01496.hp1 HG02015.hp1 HG02258.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG06807.hp1 NA18952.hp2 NA18977.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0018 a0001c0020	a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 others(36): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0041 a0001c0001t0046 a0001c0001t0048 a0001c0001t0051 a0001c0001t0064 a0001c0002t0006 a0001c0002t0009 a0001c0002t0016 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0003t0008 a0001c0003t0014 a0001c0003t0027 a0001c0003t0069 a0001c0003t0073 a0001c0004t0003 a0001c0004t0049 a0001c0004t0068 a0001c0005t0012 a0001c0005t0044 a0001c0006t0006 a0001c0006t0020 a0001c0006t0043 a0001c0007t0007 a0001c0010t0012 a0001c0011t0017 a0001c0015t0008 a0001c0016t0045 a0001c0018t0024 a0001c0020t0019	a0001c0001t0010g0100 a0001c0001t0013g0005 a0001c0001t0016g0104 others(37): Show a0001c0001t0010g0100 a0001c0001t0013g0005 a0001c0001t0016g0104 a0001c0001t0019g0004 a0001c0001t0024g0003 a0001c0001t0025g0009 a0001c0001t0041g0044 a0001c0001t0046g0045 a0001c0001t0048g0122 a0001c0001t0051g0053 a0001c0001t0064g0072 a0001c0002t0006g0119 a0001c0002t0009g0042 a0001c0002t0016g0011 a0001c0002t0028g0014 a0001c0002t0029g0052 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0003t0008g0010 a0001c0003t0014g0084 a0001c0003t0014g0111 a0001c0003t0027g0047 a0001c0003t0069g0012 a0001c0003t0073g0001 a0001c0004t0003g0007 a0001c0004t0049g0086 a0001c0004t0068g0071 a0001c0005t0012g0020 a0001c0005t0044g0018 a0001c0006t0006g0098 a0001c0006t0020g0085 a0001c0006t0043g0095 a0001c0007t0007g0094 a0001c0010t0012g0091 a0001c0011t0017g0121 a0001c0015t0008g0015 a0001c0016t0045g0105 a0001c0018t0024g0066 a0001c0020t0019g0067	40	122	0.3279	6	c.76+ others(23): Show c.76+27123_76+27128dupTTTTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25408670	C C	CTTACCT CTTACCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG00741.hp2 others(51): Show HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18977.hp1 NA18986.hp1 NA18986.hp2 NA19004.hp1 NA19030.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0012 a0001c0017 a0001c0018 a0001c0020 a0001c0021	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(48): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0026 a0001c0001t0030 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0050 a0001c0001t0066 a0001c0001t0074 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010 a0001c0002t0020 a0001c0002t0021 a0001c0002t0023 a0001c0002t0032 a0001c0002t0047 a0001c0002t0058 a0001c0002t0063 a0001c0002t0071 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0009 a0001c0003t0010 a0001c0003t0014 a0001c0003t0052 a0001c0003t0061 a0001c0003t0062 a0001c0003t0065 a0001c0003t0073 a0001c0004t0005 a0001c0005t0021 a0001c0006t0006 a0001c0006t0043 a0001c0007t0007 a0001c0012t0002 a0001c0017t0036 a0001c0018t0024 a0001c0020t0019 a0001c0021t0055	a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0009g0065 others(51): Show a0001c0001t0001g0036 a0001c0001t0004g0040 a0001c0001t0009g0065 a0001c0001t0010g0100 a0001c0001t0011g0061 a0001c0001t0013g0005 a0001c0001t0015g0082 a0001c0001t0017g0051 a0001c0001t0026g0090 a0001c0001t0030g0087 a0001c0001t0040g0038 a0001c0001t0041g0044 a0001c0001t0042g0059 a0001c0001t0046g0045 a0001c0001t0050g0025 a0001c0001t0066g0092 a0001c0001t0074g0116 a0001c0002t0001g0031 a0001c0002t0001g0039 a0001c0002t0001g0069 a0001c0002t0002g0037 a0001c0002t0004g0056 a0001c0002t0005g0034 a0001c0002t0010g0118 a0001c0002t0020g0097 a0001c0002t0021g0017 a0001c0002t0023g0013 a0001c0002t0032g0023 a0001c0002t0047g0076 a0001c0002t0058g0101 a0001c0002t0063g0050 a0001c0002t0071g0096 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0006g0078 a0001c0003t0009g0107 a0001c0003t0010g0026 a0001c0003t0014g0084 a0001c0003t0014g0111 a0001c0003t0052g0113 a0001c0003t0061g0055 a0001c0003t0062g0024 a0001c0003t0065g0033 a0001c0003t0073g0001 a0001c0004t0005g0089 a0001c0005t0021g0030 a0001c0006t0006g0098 a0001c0006t0043g0095 a0001c0007t0007g0094 a0001c0012t0002g0110 a0001c0017t0036g0019 a0001c0018t0024g0066 a0001c0020t0019g0067 a0001c0021t0055g0077	54	122	0.4426	6	c.76+ others(23): Show c.76+36383_76+36384insTACCTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25461852	A A	AAGAAGG AAGAAGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01071.hp2 others(28): Show HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01358.hp2 HG02015.hp2 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02896.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 NA18906.hp2 NA18952.hp2 NA18977.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0015 a0001c0016 a0001c0017 a0001c0020	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 others(26): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0051 a0001c0001t0054 a0001c0001t0072 a0001c0001t0074 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0020 a0001c0002t0029 a0001c0002t0031 a0001c0003t0018 a0001c0003t0027 a0001c0008t0013 a0001c0008t0033 a0001c0008t0057 a0001c0010t0012 a0001c0010t0056 a0001c0015t0008 a0001c0016t0045 a0001c0017t0036 a0001c0020t0019	a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0011g0062 others(28): Show a0001c0001t0002g0079 a0001c0001t0004g0046 a0001c0001t0011g0062 a0001c0001t0011g0063 a0001c0001t0015g0016 a0001c0001t0016g0104 a0001c0001t0024g0003 a0001c0001t0025g0009 a0001c0001t0030g0087 a0001c0001t0051g0053 a0001c0001t0054g0103 a0001c0001t0072g0027 a0001c0001t0074g0116 a0001c0002t0001g0060 a0001c0002t0001g0083 a0001c0002t0002g0037 a0001c0002t0009g0042 a0001c0002t0020g0097 a0001c0002t0029g0052 a0001c0002t0031g0058 a0001c0003t0018g0057 a0001c0003t0027g0047 a0001c0008t0013g0074 a0001c0008t0033g0075 a0001c0008t0057g0070 a0001c0010t0012g0091 a0001c0010t0056g0006 a0001c0015t0008g0015 a0001c0016t0045g0105 a0001c0017t0036g0019 a0001c0020t0019g0067	31	122	0.2541	6	c.77- others(21): Show c.77-7123_77-7122insAAGGAG	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465755	C C	CTCTCTT CTCTCTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03453.hp1 others(2): Show HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03540.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0016 a0001c0001 a0001c0015 a0001c0016	a0001c0001t0025 a0001c0001t0048 a0001c0001t0072 others(2): Show a0001c0001t0025 a0001c0001t0048 a0001c0001t0072 a0001c0015t0008 a0001c0016t0045	a0001c0001t0025g0009 a0001c0001t0048g0122 a0001c0001t0072g0027 others(2): Show a0001c0001t0025g0009 a0001c0001t0048g0122 a0001c0001t0072g0027 a0001c0015t0008g0015 a0001c0016t0045g0105	5	122	0.0410	6	c.77- others(21): Show c.77-3217_77-3216insTTCTCT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25506940	C C	CATATAT CATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG06807.hp2 HG01981.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0040 a0001c0002t0001g0039 a0001c0001t0004g0040 a0001c0002t0001g0039	2	122	0.0164	6	c.222 others(25): Show c.222-23042_222-23037dupATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25507219	T T	TTGTGTG TTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19240.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0054 a0001c0001t0074 a0001c0001t0024 a0001c0001t0054 a0001c0001t0074	a0001c0001t0024g0003 a0001c0001t0054g0103 a0001c0001t0074g0116 a0001c0001t0024g0003 a0001c0001t0054g0103 a0001c0001t0074g0116	3	122	0.0246	6	c.222 others(25): Show c.222-22740_222-22735dupGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25539060	A A	AGTGTGT AGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01261.hp2 HG02055.hp2 others(3): Show HG01074.hp2 HG01261.hp2 HG02055.hp2 HG02723.hp2 HG03098.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0053 a0001c0007t0001 a0001c0007t0007	a0001c0001t0003g0093 a0001c0001t0009g0065 a0001c0001t0017g0051 others(3): Show a0001c0001t0003g0093 a0001c0001t0009g0065 a0001c0001t0017g0051 a0001c0001t0053g0114 a0001c0007t0001g0081 a0001c0007t0007g0094	6	122	0.0492	6	c.581 others(23): Show c.581+1034_581+1039dupGTGTGT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	7/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25594984	G G	GTATATA GTATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp2 NA20300.hp2 HG02965.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0030 a0001c0001t0041 a0001c0001t0008 a0001c0001t0030 a0001c0001t0041	a0001c0001t0008g0073 a0001c0001t0030g0087 a0001c0001t0041g0044 a0001c0001t0008g0073 a0001c0001t0030g0087 a0001c0001t0041g0044	3	122	0.0246	6	c.221 others(25): Show c.2211+5303_2211+5308dupATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25594984	G G	GTGTATA GTGTATA	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA20300.hp1 HG01358.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0046 a0001c0005t0021 a0001c0001t0046 a0001c0005t0021	a0001c0001t0046g0045 a0001c0005t0021g0030 a0001c0001t0046g0045 a0001c0005t0021g0030	2	122	0.0164	6	c.221 others(25): Show c.2211+5286_2211+5287insGTATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25646671	A A	AAAAAAC AAAAAAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01081.hp2 others(15): Show HG00642.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01243.hp1 HG02055.hp2 HG02273.hp2 HG02280.hp2 HG02615.hp1 HG02630.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03490.hp2 NA18906.hp2 NA18977.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0015	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(15): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0025 a0001c0001t0030 a0001c0001t0048 a0001c0001t0053 a0001c0001t0072 a0001c0002t0020 a0001c0002t0021 a0001c0002t0029 a0001c0002t0031 a0001c0002t0058 a0001c0003t0018 a0001c0004t0003 a0001c0004t0068 a0001c0009t0038 a0001c0015t0008	a0001c0001t0003g0093 a0001c0001t0005g0102 a0001c0001t0016g0104 others(15): Show a0001c0001t0003g0093 a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0025g0009 a0001c0001t0030g0087 a0001c0001t0048g0122 a0001c0001t0053g0114 a0001c0001t0072g0027 a0001c0002t0020g0097 a0001c0002t0021g0017 a0001c0002t0029g0052 a0001c0002t0031g0058 a0001c0002t0058g0101 a0001c0003t0018g0057 a0001c0004t0003g0007 a0001c0004t0068g0071 a0001c0009t0038g0112 a0001c0015t0008g0015	18	122	0.1475	6	c.221 others(27): Show c.2212-52502_2212-52501insAAAAAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36			chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25701723	A A	AACACAC AACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp2 HG02258.hp1 others(8): Show HG01081.hp2 HG01175.hp2 HG02258.hp1 HG02280.hp2 HG02630.hp2 HG02809.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0015 a0001c0019	a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 others(8): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0019 a0001c0001t0025 a0001c0001t0048 a0001c0001t0072 a0001c0002t0031 a0001c0003t0069 a0001c0003t0073 a0001c0015t0008 a0001c0019t0007	a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0019g0004 others(8): Show a0001c0001t0005g0102 a0001c0001t0016g0104 a0001c0001t0019g0004 a0001c0001t0025g0009 a0001c0001t0048g0122 a0001c0001t0072g0027 a0001c0002t0031g0058 a0001c0003t0069g0012 a0001c0003t0073g0001 a0001c0015t0008g0015 a0001c0019t0007g0029	11	122	0.0902	6	c.238 others(25): Show c.2384+2417_2384+2422dupACACAC	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	25/36		INFO_REALIGN_3_PRIME	chr13	TogoVar

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