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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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
ATP11C_chrX_139721348_139938053	139768110	CTGATTAC others(29): Show CTGATTACAAAAAGAAAGAAGCCTTGGAGGAAGAAAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0004 a0001c0001t0017g0004	1	234	0.0043	-36	c.239 others(53): Show c.2391+114_2391+149delATTTCTTCCTCCAAGGCTTCTTTCTTTT TGTAATCA	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	20/29			chrX	TogoVar
ATP1A3_chr19_41961582_41999230	41991805	AGCCTGGA others(29): Show AGCCTGGAATCCTGGGTCTGAGGGAGGAGGGGCCAGG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	282	0.0036	-36	c.6+2 others(49): Show c.6+2230_6+2265delCCTGGCCCCTCCTCCCTCAGACCCAGGATTCC AGGC	ATP1A3	ENSG00000105409.19	transcript	ENST00000648268.1	protein_coding	1/22			chr19	TogoVar
ATP5F1D_chr19_1236751_1249825	1246416	TCCATTCC others(29): Show TCCATTCCACTCCCGACCAGACTGAGGTGACGGTGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	412	0.0024	-36	c.19 others(47): Show c.1980_*2015delCCATTCCACTCCCGACCAGACTGAGGTGACGGTG TC	ATP5F1D	ENSG00000099624.8	transcript	ENST00000215375.7	protein_coding		1592		chr19	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784235	CGTATATA others(29): Show CGTATATATATATATATACATATATATATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00733.hp2 others(11): Show HG00099.hp1 HG00323.hp1 HG00733.hp2 HG00741.hp1 HG02055.hp1 HG02258.hp2 HG02818.hp2 HG02896.hp1 HG03540.hp2 NA18969.hp1 NA18979.hp1 NA18982.hp2 NA18991.hp1 NA19085.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0005 a0002c0003 others(3): Show a0001c0001 a0001c0005 a0002c0003 a0003c0004 a0005c0006 a0009c0048	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(7): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0005t0005 a0002c0003t0001 a0003c0004t0005 a0003c0004t0008 a0005c0006t0001 a0005c0006t0005 a0009c0048t0005	a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0008g0061 others(11): Show a0001c0001t0005g0245 a0001c0001t0005g0246 a0001c0001t0008g0061 a0001c0001t0010g0242 a0001c0005t0005g0067 a0002c0003t0001g0300 a0003c0004t0005g0038 a0003c0004t0008g0068 a0005c0006t0001g0269 a0005c0006t0001g0301 a0005c0006t0001g0302 a0005c0006t0001g0303 a0005c0006t0005g0069 a0009c0048t0005g0347	14	376	0.0372	-36	c.-18 others(53): Show c.-18+1887_-18+1922delATATGTATATATATATATGTATATATAT ATATATAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784253	CATATATA others(29): Show CATATATATATATACATATATATATATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03704.hp1 HG04228.hp2 HG03669.hp1 HG03704.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0003 a0001c0001t0001 a0001c0005t0003	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0005t0003g0274 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0005t0003g0274	3	376	0.0080	-36	c.-18 others(53): Show c.-18+1869_-18+1904delATATATATGTATATATATATATGTATAT ATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V1E2_chr2_46506847_46547577	46546451	CATATATA others(29): Show CATATATATATATATATATATATGTGTATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00642.hp1 others(23): Show HG00280.hp1 HG00544.hp1 HG00642.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02071.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02572.hp2 HG02922.hp1 HG02976.hp2 HG03491.hp1 HG03492.hp2 NA18981.hp2 NA19030.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0032 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0192 a0001c0001t0001g0220 a0001c0001t0001g0291 a0001c0001t0002g0016 a0001c0001t0002g0285 a0001c0001t0003g0002 a0001c0001t0003g0026 a0001c0001t0005g0147	26	410	0.0634	-36	c.-46 others(47): Show c.-4644_-4609delATATATATATACACATATATATATATATATATAT AT	ATP6V1E2	ENSG00000250565.7	transcript	ENST00000522587.6	protein_coding		3875		chr2	TogoVar
ATP6V1H_chr8_53710543_53848245	53755710	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01993.hp1 HG02809.hp1 others(3): Show HG01358.hp1 HG01993.hp1 HG02809.hp1 NA18962.hp2 NA18966.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0115 others(3): Show a0001c0001t0002g0088 a0001c0001t0002g0099 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0157 a0001c0001t0002g0169	6	286	0.0210	-36	c.127 others(53): Show c.1277+809_1277+844delAATATATATATATATATATATATATATA TATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53813911	ACAGCTGG others(29): Show ACAGCTGGACCAGGTAGCTCCAGGCTCACCCCTTTCG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	286	0.0035	-36	c.525 others(51): Show c.525+715_525+750delCGAAAGGGGTGAGCCTGGAGCTACCTGGTC CAGCTG	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	6/13			chr8	TogoVar
ATP8A1_chr4_42403373_42662105	42636122	ACACACAC others(29): Show ACACACACACACACACACACACACACACACACACACG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG01069.hp1 others(40): Show HG00280.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG02273.hp1 HG02293.hp1 HG02523.hp1 HG02622.hp1 HG02622.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG03017.hp1 HG03209.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18906.hp2 NA19012.hp1 NA19070.hp2 NA19077.hp2 NA20129.hp1 NA20752.hp1	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0010 others(1): Show a0001c0001 a0001c0002 a0005c0010 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0037 a0001c0002t0004 a0001c0002t0013 a0001c0002t0014 a0005c0010t0014 a0006c0009t0008	a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0015 others(40): Show a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0002g0015 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0124 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0206 a0001c0001t0003g0254 a0001c0001t0003g0257 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0005g0202 a0001c0001t0009g0205 a0001c0001t0012g0302 a0001c0001t0012g0308 a0001c0001t0021g0187 a0001c0001t0024g0009 a0001c0001t0029g0036 a0001c0001t0037g0203 a0001c0002t0004g0016 a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0014g0276 a0005c0010t0014g0277 a0006c0009t0008g0114	43	310	0.1387	-36	c.50- others(51): Show c.50-9049_50-9014delCGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTG	ATP8A1	ENSG00000124406.17	transcript	ENST00000381668.9	protein_coding	1/36			chr4	TogoVar
ATP8A2_chr13_25366974_26030851	25677488	TATAACTC others(29): Show TATAACTCATGTGAGACCCGGGTGGTGGTGGAGAGAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01496.hp1 HG02015.hp1 others(8): Show HG00741.hp1 HG01496.hp1 HG02015.hp1 HG02273.hp1 HG02647.hp1 HG03453.hp2 HG03540.hp2 NA18952.hp1 NA18977.hp1 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0016	a0001c0001t0011 a0001c0001t0059 a0001c0002t0028 others(8): Show a0001c0001t0011 a0001c0001t0059 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0014 a0001c0003t0065 a0001c0011t0017 a0001c0016t0045	a0001c0001t0011g0061 a0001c0001t0059g0022 a0001c0002t0028g0014 others(8): Show a0001c0001t0011g0061 a0001c0001t0059g0022 a0001c0002t0028g0014 a0001c0003t0001g0106 a0001c0003t0002g0108 a0001c0003t0007g0109 a0001c0003t0009g0107 a0001c0003t0014g0111 a0001c0003t0065g0033 a0001c0011t0017g0121 a0001c0016t0045g0105	11	122	0.0902	-36	c.221 others(57): Show c.2212-21682_2212-21647delAACTCATGTGAGACCCGGGTGGTG GTGGAGAGACAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25829668	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0039 a0001c0002t0039	a0001c0002t0039g0099 a0001c0002t0039g0099	1	122	0.0082	-36	c.275 others(55): Show c.2754+1494_2754+1529delATATATATATATATATATATATATAT ATATATATAT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	28/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57731308	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01255.hp1 HG01516.hp2 others(16): Show HG00673.hp1 HG01255.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02451.hp1 HG02630.hp1 HG02965.hp1 HG03041.hp2 NA18942.hp1 NA18978.hp1 NA19004.hp2 NA19074.hp2 NA19087.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0026	a0001c0001t0001g0006 a0001c0001t0001g0083 a0001c0001t0001g0097 others(16): Show a0001c0001t0001g0006 a0001c0001t0001g0083 a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0003g0277 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0004g0122 a0001c0001t0005g0046 a0001c0001t0005g0127 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0009g0215 a0001c0001t0012g0180 a0001c0001t0013g0294 a0001c0001t0017g0222 a0001c0001t0026g0311	19	314	0.0605	-36	c.181 others(51): Show c.181+283_181+318delATATATATATATATATATATATATATATAT ATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B3_chr19_1777075_1817276	1802268	TCCACCCA others(29): Show TCCACCCACCCACCCACCCATCCCCACATCCAGGCAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp1 HG02922.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0005 a0002c0003t0005 a0001c0004t0005 a0002c0003t0005	a0001c0004t0005g0376 a0002c0003t0005g0372 a0001c0004t0005g0376 a0002c0003t0005g0372	2	390	0.0051	-36	c.106 others(53): Show c.1063+183_1063+218delGTGCCTGGATGTGGGGATGGGTGGGTGG GTGGGTGG	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	11/28			chr19	TogoVar
ATP8B4_chr15_49853238_50124233	50072958	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0046 a0003c0003t0002g0046	1	254	0.0039	-36	c.87+ others(51): Show c.87+1133_87+1168delTATATATATATATAGAGAGAGAGAGAGAGA GAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072960	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18949.hp2 NA18977.hp2 others(3): Show HG01978.hp1 NA18949.hp2 NA18977.hp2 NA19007.hp2 NA19084.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0014	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0014c0016	a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0003 a0002c0002t0001 a0003c0003t0001 a0014c0016t0001	a0001c0001t0003g0216 a0002c0002t0001g0196 a0002c0002t0001g0208 others(3): Show a0001c0001t0003g0216 a0002c0002t0001g0196 a0002c0002t0001g0208 a0002c0002t0001g0220 a0003c0003t0001g0200 a0014c0016t0001g0212	6	254	0.0236	-36	c.87+ others(51): Show c.87+1131_87+1166delTATATATATATATATAGAGAGAGAGAGAGA GAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072962	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03654.hp2 NA18951.hp2 HG00423.hp2 HG03654.hp2 NA18951.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0026 a0002c0002t0001 a0003c0003t0001 a0001c0001t0026 a0002c0002t0001 a0003c0003t0001	a0001c0001t0026g0233 a0002c0002t0001g0202 a0003c0003t0001g0222 a0001c0001t0026g0233 a0002c0002t0001g0202 a0003c0003t0001g0222	3	254	0.0118	-36	c.87+ others(51): Show c.87+1129_87+1164delTATATATATATATATATAGAGAGAGAGAGA GAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072964	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTCTATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 NA18963.hp2 others(3): Show HG01069.hp2 HG01071.hp1 NA18963.hp2 NA18969.hp1 NA19054.hp1 NA19064.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0219 others(2): Show a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0002g0009 a0003c0003t0001g0001	6	254	0.0236	-36	c.87+ others(51): Show c.87+1127_87+1162delTATATATATATATATATATAGAGAGAGAGA GAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50072966	CTCTCTCT others(29): Show CTCTCTCTCTCTCTCTATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0214 a0002c0002t0003g0214	1	254	0.0039	-36	c.87+ others(51): Show c.87+1125_87+1160delTATATATATATATATATATATAGAGAGAGA GAGAGA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	3/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086325	ATATTTAT others(29): Show ATATTTATTATATATAATTAATATAGAGATCTATATT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02818.hp1 HG03139.hp1 HG02572.hp2 HG02818.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237	3	254	0.0118	-36	c.29- others(53): Show c.29-12176_29-12141delAATATAGATCTCTATATTAATTATATAT AATAAATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086908	ATTATTAT others(29): Show ATTATTATATATAATAAAATAATATAGAGATCTATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00438.hp1 others(73): Show HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03710.hp2 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18955.hp2 NA18960.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19084.hp1 NA20905.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0011 a0013 a0016 a0017	a0001c0001 a0001c0014 a0002c0002 others(11): Show a0001c0001 a0001c0014 a0002c0002 a0002c0021 a0003c0003 a0004c0004 a0004c0010 a0005c0005 a0006c0006 a0010c0012 a0011c0011 a0013c0020 a0016c0017 a0017c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0015 a0001c0001t0022 a0001c0014t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0014 a0002c0021t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0007 a0003c0003t0023 a0004c0004t0009 a0004c0004t0018 a0004c0010t0005 a0005c0005t0002 a0005c0005t0021 a0006c0006t0004 a0010c0012t0002 a0011c0011t0002 a0013c0020t0001 a0016c0017t0001 a0017c0018t0004	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0245 others(73): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0245 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0004g0074 a0001c0001t0010g0092 a0001c0001t0015g0012 a0001c0001t0022g0087 a0001c0014t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0166 a0002c0002t0001g0172 a0002c0002t0001g0228 a0002c0002t0001g0231 a0002c0002t0002g0002 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0037 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0069 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0014g0054 a0002c0021t0002g0039 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0176 a0003c0003t0002g0011 a0003c0003t0002g0017 a0003c0003t0002g0033 a0003c0003t0002g0036 a0003c0003t0002g0041 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0059 a0003c0003t0002g0061 a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0004g0015 a0003c0003t0007g0049 a0003c0003t0007g0060 a0003c0003t0023g0227 a0004c0004t0009g0091 a0004c0004t0009g0097 a0004c0004t0018g0018 a0004c0010t0005g0098 a0005c0005t0002g0014 a0005c0005t0002g0023 a0005c0005t0021g0040 a0006c0006t0004g0010 a0006c0006t0004g0048 a0010c0012t0002g0051 a0011c0011t0002g0053 a0013c0020t0001g0103 a0016c0017t0001g0095 a0017c0018t0004g0080	76	254	0.2992	-36	c.29- others(53): Show c.29-12759_29-12724delATATAGATCTCTATATTATTTTATTATA TATAATAA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9A_chr20_51591514_51773390	51638069	TTTTATAT others(29): Show TTTTATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG03486.hp2 others(2): Show HG02258.hp1 HG02630.hp1 HG03486.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0066 a0001c0003t0015 a0001c0003t0031 a0001c0001t0066 a0001c0003t0015 a0001c0003t0031	a0001c0001t0066g0117 a0001c0003t0015g0121 a0001c0003t0015g0138 others(2): Show a0001c0001t0066g0117 a0001c0003t0015g0121 a0001c0003t0015g0138 a0001c0003t0015g0151 a0001c0003t0031g0120	5	312	0.0160	-36	c.166 others(55): Show c.1668+1238_1668+1273delTATATATATATATATATATATATATA TATATATAAA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9A_chr20_51591514_51773390	51638071	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0048 a0001c0002t0005g0048	1	312	0.0032	-36	c.166 others(55): Show c.1668+1236_1668+1271delTATATATATATATATATATATATATA TATATATATA	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	15/27			chr20	TogoVar
ATP9B_chr18_79064394_79383283	79308641	AGGAGTGA others(29): Show AGGAGTGATCCCCAGTAGGTAGAAGGTCAGGGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0107 a0001c0011t0006g0107	1	298	0.0034	-36	c.177 others(55): Show c.1773+1422_1773+1457delTAGGTAGAAGGTCAGGGGTGGTGGAG TGATCCCCAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308656	TAGGTAGA others(29): Show TAGGTAGAAGGTCAGGGGTGGTGGAGTGATCCCCAGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02257.hp2 HG02723.hp2 others(7): Show HG01243.hp1 HG02257.hp2 HG02723.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03486.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0004 a0003c0007 a0003c0021 others(1): Show a0001c0004 a0003c0007 a0003c0021 a0010c0029	a0001c0004t0001 a0003c0007t0004 a0003c0021t0004 others(1): Show a0001c0004t0001 a0003c0007t0004 a0003c0021t0004 a0010c0029t0004	a0001c0004t0001g0016 a0003c0007t0004g0278 a0003c0007t0004g0279 others(7): Show a0001c0004t0001g0016 a0003c0007t0004g0278 a0003c0007t0004g0279 a0003c0007t0004g0280 a0003c0007t0004g0282 a0003c0007t0004g0283 a0003c0007t0004g0287 a0003c0007t0004g0288 a0003c0021t0004g0284 a0010c0029t0004g0220	10	298	0.0336	-36	c.177 others(55): Show c.1773+1476_1773+1511delTGGTGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308710	TGGTGGAG others(29): Show TGGTGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0107 a0001c0011t0006g0107	1	298	0.0034	-36	c.177 others(55): Show c.1773+1477_1773+1512delGGTGGAGTGATCCCCAGCAGGTAGAA GGTCAGGGGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308891	TGAGGAGT others(29): Show TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0004 a0003c0021t0004	a0003c0021t0004g0284 a0003c0021t0004g0284	1	298	0.0034	-36	c.177 others(55): Show c.1773+1692_1773+1727delTGGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79308963	TGAGGAGT others(29): Show TGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0006 a0001c0011t0006	a0001c0011t0006g0107 a0001c0011t0006g0107	1	298	0.0034	-36	c.177 others(55): Show c.1773+1764_1773+1799delTGGAGGAGTGATCCCCAGCAGGTAGA AGGTCAGGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309175	GGGCTGAG others(29): Show GGGCTGAGGAGTGATCCCCAGCAGGTAGAAGGTCAGA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0004 a0003c0020t0004	a0003c0020t0004g0289 a0003c0020t0004g0289	1	298	0.0034	-36	c.177 others(55): Show c.1773+1977_1773+2012delAGGCTGAGGAGTGATCCCCAGCAGGT AGAAGGTCAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79309541	TGGAGTGA others(29): Show TGGAGTGATCCCCAGCAGGTAGAAGGTCAGGGGCTGA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 NA18982.hp1 others(1): Show HG03098.hp2 HG03453.hp2 NA18982.hp1 NA19086.hp2	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0001 a0008c0030 a0013c0023 a0001c0001 a0008c0030 a0013c0023	a0001c0001t0008 a0008c0030t0001 a0013c0023t0001 a0001c0001t0008 a0008c0030t0001 a0013c0023t0001	a0001c0001t0008g0055 a0001c0001t0008g0057 a0008c0030t0001g0254 others(1): Show a0001c0001t0008g0055 a0001c0001t0008g0057 a0008c0030t0001g0254 a0013c0023t0001g0042	4	298	0.0134	-36	c.177 others(55): Show c.1773+2383_1773+2418delGTGATCCCCAGCAGGTAGAAGGTCAG GGGCTGAGGA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327555	GCGTGCTC others(29): Show GCGTGCTCTCCGTGGTTAGCGTGCTCTCCGTGGTTAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02897.hp2 others(2): Show HG02055.hp1 HG02615.hp2 HG02897.hp2 HG03486.hp2 HG03579.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0004 a0002c0005t0001 a0002c0005t0004	a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0197 others(2): Show a0002c0005t0001g0179 a0002c0005t0001g0190 a0002c0005t0001g0197 a0002c0005t0001g0243 a0002c0005t0004g0184	5	298	0.0168	-36	c.177 others(55): Show c.1774-1580_1774-1545delTCTCCGTGGTTAGCGTGCTCTCCGTG GTTAACGTGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327737	GCGTGCTC others(29): Show GCGTGCTCTCCGTGGTTAGCGTGCTCTCTGTGGTTAA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0002 a0002	a0002c0033 a0002c0033	a0002c0033t0002 a0002c0033t0002	a0002c0033t0002g0214 a0002c0033t0002g0214	1	298	0.0034	-36	c.177 others(55): Show c.1774-1376_1774-1341delTGTGGTTAACGTGCTCTCCGTGGTTA GCGTGCTCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327792	CGTGCTCT others(29): Show CGTGCTCTCCGTGGTTAGCGTGTTCTCCGTGGTTAGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp1 HG01952.hp1 others(5): Show HG01496.hp1 HG01934.hp1 HG01952.hp1 HG02015.hp2 HG02027.hp2 NA18952.hp1 NA18955.hp2 NA19007.hp1	a0001 a0015 a0001 a0015	a0001c0003 a0001c0004 a0001c0006 others(1): Show a0001c0003 a0001c0004 a0001c0006 a0015c0027	a0001c0003t0003 a0001c0004t0003 a0001c0006t0003 others(1): Show a0001c0003t0003 a0001c0004t0003 a0001c0006t0003 a0015c0027t0003	a0001c0003t0003g0115 a0001c0003t0003g0129 a0001c0003t0003g0138 others(5): Show a0001c0003t0003g0115 a0001c0003t0003g0129 a0001c0003t0003g0138 a0001c0004t0003g0060 a0001c0004t0003g0061 a0001c0006t0003g0267 a0001c0006t0003g0268 a0015c0027t0003g0139	8	298	0.0269	-36	c.177 others(55): Show c.1774-1345_1774-1310delCTCTCCGTGGTTAGCGTGTTCTCCGT GGTTAGTGTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79327820	GTGGTTAG others(29): Show GTGGTTAGTGTGTTCTCCGTGGTTAGCGTGCTCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03834.hp1 HG01106.hp2 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0073 a0001c0004t0003g0103 a0001c0004t0003g0073 a0001c0004t0003g0103	2	298	0.0067	-36	c.177 others(55): Show c.1774-1313_1774-1278delTGTGTTCTCCGTGGTTAGCGTGCTCT CCATGGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79328054	CTGGTTAG others(29): Show CTGGTTAGCGTGCTCTCCGTGGTTAGCGTGCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02615.hp1 others(3): Show HG02055.hp2 HG02258.hp1 HG02615.hp1 HG02698.hp2 HG03041.hp1 NA21309.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0004 a0001c0006	a0001c0004t0003 a0001c0006t0003 a0001c0004t0003 a0001c0006t0003	a0001c0004t0003g0041 a0001c0004t0003g0092 a0001c0004t0003g0094 others(3): Show a0001c0004t0003g0041 a0001c0004t0003g0092 a0001c0004t0003g0094 a0001c0004t0003g0098 a0001c0004t0003g0113 a0001c0006t0003g0281	6	298	0.0201	-36	c.177 others(55): Show c.1774-1070_1774-1035delCGTGGTTAGCGTGCTCTCTGTGGTTA GCGTGCTCTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRX_chrX_77499880_77791216	77626028	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	218	0.0046	-36	c.513 others(55): Show c.5135-5532_5135-5497delATATATATATATATATATATATATAT ATATATATAT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	19/34			chrX	TogoVar
AUTS2_chr7_69593475_70798506	69602032	ATATATAT others(29): Show ATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	76	0.0132	-36	c.309 others(53): Show c.309+2072_309+2107delATATATATGTGTGTGTGTGTGTGTGTGT GTGTGTGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	69876484	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	76	0.0132	-36	c.310 others(55): Show c.310-22776_310-22741delATATATATATATATATATATATATAT ATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVL9_chr7_32490489_32593726	32579469	ATATTATA others(29): Show ATATTATATTATATATAATATATTACATATTATATAT	A A	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0199 a0001c0001t0056g0199	1	330	0.0030	-36	c.168 others(53): Show c.1689-746_1689-711delTATATTATATATAATATATTACATATTA TATATTAT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01081.hp2 others(3): Show HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01256.hp1 HG02486.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0168 a0001c0001t0002g0062 a0002c0002t0001g0305 others(1): Show a0001c0001t0001g0168 a0001c0001t0002g0062 a0002c0002t0001g0305 a0002c0002t0002g0014	6	446	0.0135	-36	c.287 others(51): Show c.287+703_287+738delACACACACACACACACACACACACACACAC ACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPR2_chrX_153899673_153912166	153901423	GCACACGC others(29): Show GCACACGCACACACCCTCACACACGCACACACCCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0001 a0003c0006t0001g0001	1	322	0.0031	-36	c.-35 others(47): Show c.-3520_-3485delCACACGCACACACCCTCACACACGCACACACCCT CA	AVPR2	ENSG00000126895.16	transcript	ENST00000646375.2	protein_coding		3249		chrX	TogoVar
B3GALT1_chr2_167288001_167879045	167588830	CTTCCTTC others(29): Show CTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	118	0.0085	-36	c.-40 others(57): Show c.-409-58063_-409-58028delTTTCCTTCCTTCCTTCCTTCTTTC CTTCCTTCCTTC	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39623217	CCCTCCCT others(29): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03209.hp1 HG03453.hp1 HG02109.hp2 HG03209.hp1 HG03453.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0002 a0003c0005 a0001c0003 a0002c0002 a0003c0005	a0001c0003t0123 a0002c0002t0085 a0003c0005t0116 a0001c0003t0123 a0002c0002t0085 a0003c0005t0116	a0001c0003t0123g0137 a0002c0002t0085g0139 a0003c0005t0116g0136 a0001c0003t0123g0137 a0002c0002t0085g0139 a0003c0005t0116g0136	3	336	0.0089	-36	c.-39 others(57): Show c.-392+10154_-392+10189delCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GNT5_chr3_183248253_183278385	183272190	CTAATAGA others(29): Show CTAATAGAGTAAGTTACATTTATTTTACAAAGCAGGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00544.hp1 HG02056.hp1 NA18612.hp2 others(1): Show HG00544.hp1 HG02056.hp1 NA18612.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0042 a0001c0001t0007g0049 others(1): Show a0001c0001t0007g0004 a0001c0001t0007g0042 a0001c0001t0007g0049 a0001c0001t0007g0065	4	390	0.0103	-36	c.12 others(47): Show c.1259_*1294delTAGAGTAAGTTACATTTATTTTACAAAGCAGGAT AA	B3GNT5	ENSG00000176597.12	transcript	ENST00000326505.4	protein_coding	2/2	1259	INFO_REALIGN_3_PRIME	chr3	TogoVar
B3GNT6_chr11_77029398_77046973	77032672	TATATATA others(29): Show TATATATACACATACATACATACATATATATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG02258.hp2 HG02559.hp2 others(3): Show HG01261.hp2 HG02258.hp2 HG02559.hp2 HG03139.hp2 NA19043.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0002t0003 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0003 a0002c0003t0004 a0002c0003t0006	a0001c0001t0002g0056 a0001c0001t0007g0011 a0001c0002t0003g0005 others(2): Show a0001c0001t0002g0056 a0001c0001t0007g0011 a0001c0002t0003g0005 a0002c0003t0004g0075 a0002c0003t0006g0006	6	442	0.0136	-36	c.-18 others(47): Show c.-1806_-1771delATATATACACATACATACATACATATATATATAT AC	B3GNT6	ENSG00000198488.10	transcript	ENST00000622824.1	protein_coding		1725		chr11	TogoVar
B3GNTL1_chr17_82937149_83056770	82972052	GGGGCTAG others(29): Show GGGGCTAGAAGGACCTGGTGCCGACACACCACACCAT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0135 a0001c0002t0016g0135	1	266	0.0038	-36	c.460 others(53): Show c.460-6342_460-6307delATGGTGTGGTGTGTCGGCACCAGGTCCT TCTAGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82972474	GGGGCTAG others(29): Show GGGGCTAGAAGGACCTGGTGCCGACACACCACACCAT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG03453.hp1 others(1): Show HG02886.hp1 HG02922.hp2 HG03453.hp1 HG03486.hp1	a0001 a0004 a0001 a0004	a0001c0011 a0004c0017 a0004c0019 a0001c0011 a0004c0017 a0004c0019	a0001c0011t0010 a0004c0017t0002 a0004c0019t0004 a0001c0011t0010 a0004c0017t0002 a0004c0019t0004	a0001c0011t0010g0146 a0004c0017t0002g0136 a0004c0017t0002g0137 others(1): Show a0001c0011t0010g0146 a0004c0017t0002g0136 a0004c0017t0002g0137 a0004c0019t0004g0193	4	266	0.0150	-36	c.460 others(53): Show c.460-6764_460-6729delATGGTGTGGTGTGTCGGCACCAGGTCCT TCTAGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82999210	GCACAAAG others(29): Show GCACAAAGGCTTGTACATATGTTCACTGTCATGCACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02559.hp2 HG03209.hp1 others(2): Show HG00639.hp2 HG02559.hp2 HG03209.hp1 HG03209.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0010 a0001c0001t0037 others(1): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0037 a0002c0005t0007	a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0010g0185 others(2): Show a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0010g0185 a0001c0001t0037g0259 a0002c0005t0007g0261	5	266	0.0188	-36	c.459 others(53): Show c.459+5869_459+5904delTGTGCATGACAGTGAACATATGTACAAG CCTTTGTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83002921	CCTCCGCG others(29): Show CCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG02080.hp2 others(5): Show HG00621.hp2 HG00673.hp2 HG02080.hp2 HG03492.hp2 NA18953.hp1 NA18959.hp2 NA18964.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0005	a0001c0001t0002 a0001c0001t0019 a0001c0001t0027 others(4): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0027 a0001c0002t0006 a0001c0002t0019 a0001c0008t0005 a0002c0005t0003	a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0019g0181 others(5): Show a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0019g0181 a0001c0001t0027g0184 a0001c0002t0006g0107 a0001c0002t0019g0115 a0001c0008t0005g0203 a0002c0005t0003g0180	8	266	0.0301	-36	c.459 others(53): Show c.459+2158_459+2193delAGTGGGAGGGCGGGCTCAGGAATCCCAC ACGCGGAG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83002965	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03453.hp1 others(3): Show HG01891.hp2 HG02451.hp2 HG03453.hp1 HG03486.hp1 NA19043.hp1 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0011 a0002c0010 a0004c0017 a0001c0011 a0002c0010 a0004c0017	a0001c0011t0011 a0001c0011t0012 a0002c0010t0007 others(1): Show a0001c0011t0011 a0001c0011t0012 a0002c0010t0007 a0004c0017t0002	a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 others(3): Show a0001c0011t0011g0138 a0001c0011t0011g0139 a0001c0011t0012g0142 a0002c0010t0007g0222 a0004c0017t0002g0136 a0004c0017t0002g0137	6	266	0.0226	-36	c.459 others(53): Show c.459+2114_459+2149delGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83003230	GTCCGCGT others(29): Show GTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCC	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	266	0.0038	-36	c.459 others(53): Show c.459+1849_459+1884delGGGCGGGAGGGCGGGCTCAGGAATCCCA CACGCGGA	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar

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