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
ATP6V0A4_chr7_138701294_138803196	138707154	ATATATAA others(14): Show ATATATAATATATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	376	0.0027	-21	c.243 others(38): Show c.2430-458_2430-438delATATATATAATATATTATATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	21/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718202	GTGTGTGT others(14): Show GTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02818.hp1 others(5): Show HG02280.hp2 HG02630.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG03453.hp1 HG03579.hp2 NA20129.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0005 a0001c0014 others(3): Show a0001c0001 a0001c0005 a0001c0014 a0003c0036 a0004c0018 a0004c0041	a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0014t0004 a0003c0036t0001 a0004c0018t0002 a0004c0041t0004	a0001c0001t0001g0027 a0001c0005t0001g0032 a0001c0005t0004g0356 others(5): Show a0001c0001t0001g0027 a0001c0005t0001g0032 a0001c0005t0004g0356 a0001c0005t0005g0067 a0001c0014t0004g0095 a0003c0036t0001g0046 a0004c0018t0002g0096 a0004c0041t0004g0006	8	376	0.0213	-21	c.214 others(40): Show c.2140-2342_2140-2322delACACACACACACACACACACA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86145358	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0006 a0004c0007t0004g0006	1	360	0.0028	-21	c.639 others(38): Show c.639+2407_639+2427delGGAAGGAAGGAAGGAAAGAAA	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP6V0E1_chr5_172978771_173040445	173015539	GGCCCGTG others(14): Show GGCCCGTGATGTAATCAATCAT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG03516.hp1 others(1): Show HG02055.hp1 HG03130.hp1 HG03516.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0286 a0001c0001t0006g0201 a0001c0001t0006g0202 others(1): Show a0001c0001t0001g0286 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203	4	292	0.0137	-21	c.153 others(38): Show c.153-4695_153-4675delCGTGATGTAATCAATCATGCC	ATP6V0E1	ENSG00000113732.9	transcript	ENST00000519374.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631685	TATATATA others(14): Show TATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	370	0.0027	-21	c.-30 others(32): Show c.-3071_-3051delTATATATATATATATATATAT	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2937		chr22	TogoVar
ATP6V1E1_chr22_17587136_17633749	17631698	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0210 a0001c0001t0004g0210	1	370	0.0027	-21	c.-30 others(32): Show c.-3084_-3064delAAAAAAAAAAAAATATATATA	ATP6V1E1	ENSG00000131100.13	transcript	ENST00000253413.10	protein_coding		2950		chr22	TogoVar
ATP6V1H_chr8_53710543_53848245	53755719	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	286	0.0035	-21	c.127 others(38): Show c.1277+815_1277+835delTATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755723	TATATATA others(14): Show TATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18993.hp2 HG02886.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0257 a0001c0001t0002g0136 a0001c0001t0002g0257	2	286	0.0070	-21	c.127 others(38): Show c.1277+811_1277+831delTATATATATATATATATATAT	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755724	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	286	0.0035	-21	c.127 others(38): Show c.1277+810_1277+830delATATATATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755726	ATATATAT others(14): Show ATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	286	0.0035	-21	c.127 others(38): Show c.1277+808_1277+828delAAATATATATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755732	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	286	0.0035	-21	c.127 others(38): Show c.1277+802_1277+822delAAAAAAAAATATATATATATA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP7B_chr13_51927669_52016450	51980846	GAGGCAAA others(14): Show GAGGCAAACATGTTATACATGA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0217 a0001c0009t0001g0217	1	302	0.0033	-21	c.52- others(36): Show c.52-5699_52-5679delTCATGTATAACATGTTTGCCT	ATP7B	ENSG00000123191.17	transcript	ENST00000242839.10	protein_coding	1/20			chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25688104	TTTTCGTG others(14): Show TTTTCGTGCTGTTGTGTGGCTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01070.hp2 others(30): Show HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01981.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0001c0017	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(27): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0015 a0001c0001t0018 a0001c0001t0040 a0001c0001t0050 a0001c0001t0051 a0001c0001t0074 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0016 a0001c0002t0022 a0001c0002t0023 a0001c0002t0032 a0001c0002t0039 a0001c0002t0047 a0001c0002t0070 a0001c0002t0071 a0001c0003t0008 a0001c0003t0010 a0001c0003t0061 a0001c0004t0005 a0001c0004t0049 a0001c0006t0006 a0001c0006t0043 a0001c0012t0002 a0001c0017t0036	a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 others(30): Show a0001c0001t0004g0040 a0001c0001t0004g0046 a0001c0001t0008g0073 a0001c0001t0009g0065 a0001c0001t0010g0100 a0001c0001t0015g0016 a0001c0001t0015g0082 a0001c0001t0018g0041 a0001c0001t0040g0038 a0001c0001t0050g0025 a0001c0001t0051g0053 a0001c0001t0074g0116 a0001c0002t0001g0039 a0001c0002t0001g0069 a0001c0002t0003g0120 a0001c0002t0005g0034 a0001c0002t0016g0011 a0001c0002t0022g0117 a0001c0002t0023g0013 a0001c0002t0032g0023 a0001c0002t0039g0099 a0001c0002t0047g0076 a0001c0002t0070g0068 a0001c0002t0071g0096 a0001c0003t0008g0010 a0001c0003t0010g0026 a0001c0003t0061g0055 a0001c0004t0005g0089 a0001c0004t0049g0086 a0001c0006t0006g0098 a0001c0006t0043g0095 a0001c0012t0002g0110 a0001c0017t0036g0019	33	122	0.2705	-21	c.221 others(42): Show c.2212-11065_2212-11045delCGTGCTGTTGTGTGGCTGTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	24/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8B1_chr18_57641426_57808315	57717547	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(51): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG01074.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02809.hp1 HG03139.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18612.hp1 NA18942.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp2 NA19074.hp2 NA19079.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049	a0001c0001t0001g0003 a0001c0001t0002g0214 a0001c0001t0002g0224 others(51): Show a0001c0001t0001g0003 a0001c0001t0002g0214 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0276 a0001c0001t0002g0298 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0284 a0001c0001t0004g0120 a0001c0001t0005g0017 a0001c0001t0005g0036 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0072 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0007g0196 a0001c0001t0007g0257 a0001c0001t0008g0142 a0001c0001t0009g0205 a0001c0001t0009g0215 a0001c0001t0009g0225 a0001c0001t0009g0230 a0001c0001t0009g0235 a0001c0001t0009g0243 a0001c0001t0009g0246 a0001c0001t0009g0253 a0001c0001t0009g0259 a0001c0001t0009g0286 a0001c0001t0010g0151 a0001c0001t0010g0186 a0001c0001t0010g0188 a0001c0001t0011g0161 a0001c0001t0012g0160 a0001c0001t0012g0180 a0001c0001t0012g0189 a0001c0001t0013g0231 a0001c0001t0013g0294 a0001c0001t0015g0187 a0001c0001t0017g0222 a0001c0001t0025g0313 a0001c0001t0036g0179 a0001c0001t0039g0149 a0001c0001t0040g0148 a0001c0001t0043g0299 a0001c0001t0048g0312 a0001c0001t0049g0309	54	314	0.1720	-21	c.182 others(40): Show c.182-10981_182-10961delTTTTTTTTTTTTTTTTTTTTT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79246213	ACTGACTG others(14): Show ACTGACTGAGGAGGGCACCACC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG03195.hp1 others(3): Show HG02109.hp1 HG02809.hp1 HG03195.hp1 HG03540.hp2 NA18945.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0011 a0001c0014	a0001c0001t0001 a0001c0003t0003 a0001c0006t0007 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0006t0007 a0001c0011t0006 a0001c0014t0006	a0001c0001t0001g0049 a0001c0003t0003g0126 a0001c0006t0007g0285 others(3): Show a0001c0001t0001g0049 a0001c0003t0003g0126 a0001c0006t0007g0285 a0001c0006t0007g0286 a0001c0011t0006g0105 a0001c0014t0006g0093	6	298	0.0201	-21	c.110 others(40): Show c.1108-7160_1108-7140delAGGAGGGCACCACCCTGACTG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115389590	ATTTCATC others(14): Show ATTTCATCCAATGATGGACACC	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0030 a0001c0001t0008g0030	1	128	0.0078	-21	c.317 others(40): Show c.3176-5067_3176-5047delTTCATCCAATGATGGACACCT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3484909	AATTATTA others(14): Show AATTATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0034 a0015c0021t0034	a0015c0021t0034g0204 a0015c0021t0034g0204	1	220	0.0046	-21	c.410 others(40): Show c.410+13411_410+13431delATTATTATTATTATTATTATT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3504688	GATAATAA others(14): Show GATAATAATAATAATAATAATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG00735.hp1 others(16): Show HG00140.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01175.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG02055.hp1 HG02622.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 NA18522.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0001c0006 others(2): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0002c0004	a0001c0003t0005 a0001c0003t0007 a0001c0005t0007 others(5): Show a0001c0003t0005 a0001c0003t0007 a0001c0005t0007 a0001c0005t0038 a0001c0006t0004 a0001c0006t0020 a0001c0007t0003 a0002c0004t0011	a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0179 others(16): Show a0001c0003t0005g0178 a0001c0003t0005g0190 a0001c0003t0007g0179 a0001c0003t0007g0187 a0001c0003t0007g0188 a0001c0005t0007g0181 a0001c0005t0007g0183 a0001c0005t0007g0184 a0001c0005t0007g0191 a0001c0005t0007g0192 a0001c0005t0038g0189 a0001c0006t0004g0177 a0001c0006t0004g0186 a0001c0006t0020g0180 a0001c0007t0003g0185 a0001c0007t0003g0193 a0002c0004t0011g0150 a0002c0004t0011g0151 a0002c0004t0011g0152	19	220	0.0864	-21	c.411 others(40): Show c.411-30534_411-30514delATAATAATAATAATAATAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01106.hp1 HG02109.hp1 others(5): Show HG01071.hp1 HG01106.hp1 HG02109.hp1 HG02257.hp1 HG02630.hp1 HG02738.hp2 HG02922.hp1 HG03579.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0012 others(2): Show a0001c0001 a0001c0002 a0002c0012 a0003c0008 a0004c0016	a0001c0001t0005 a0001c0001t0013 a0001c0001t0028 others(4): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0028 a0001c0002t0008 a0002c0012t0013 a0003c0008t0029 a0004c0016t0013	a0001c0001t0005g0056 a0001c0001t0005g0068 a0001c0001t0013g0136 others(5): Show a0001c0001t0005g0056 a0001c0001t0005g0068 a0001c0001t0013g0136 a0001c0001t0028g0017 a0001c0002t0008g0132 a0002c0012t0013g0161 a0003c0008t0029g0196 a0004c0016t0013g0167	8	220	0.0364	-21	c.386 others(40): Show c.3864-3367_3864-3347delTTTTTTTTTTTTTTTTTTTTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77585583	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	218	0.0046	-21	c.621 others(40): Show c.6217+4230_6217+4250delTTTTTTTTTTTTTTTTTTTTT	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding	27/34			chrX	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(14): Show CTATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	322	0.0031	-21	c.589 others(36): Show c.5898+62_5898+82delATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19070.hp1 NA20300.hp2 HG02622.hp1 NA19070.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0266 a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0266	3	316	0.0095	-21	c.117 others(42): Show c.1173+12867_1173+12887delTTTTTTTTTTTTTTTTTTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN7L1_chr7_105599772_105881599	105619518	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0164 a0001c0001t0011g0164	1	252	0.0040	-21	c.151 others(38): Show c.1517+661_1517+681delAAAAAAAAATATATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619522	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19066.hp2 NA19079.hp2 HG03831.hp1 NA19066.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0058 a0001c0001t0002 a0001c0001t0058	a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0058g0018 a0001c0001t0002g0049 a0001c0001t0002g0056 a0001c0001t0058g0018	3	252	0.0119	-21	c.151 others(38): Show c.1517+657_1517+677delAAAAAAAAAAAAATATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619524	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG03098.hp1 HG03491.hp1 others(3): Show HG02027.hp1 HG03098.hp1 HG03491.hp1 NA18943.hp1 NA18950.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0023 a0001c0001t0039	a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0238 others(3): Show a0001c0001t0003g0011 a0001c0001t0003g0029 a0001c0001t0003g0238 a0001c0001t0011g0170 a0001c0001t0023g0183 a0001c0001t0039g0180	6	252	0.0238	-21	c.151 others(38): Show c.1517+655_1517+675delAAAAAAAAAAAAAAATATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L1_chr7_105599772_105881599	105619526	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18943.hp2 HG02895.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0013 a0001c0001t0009 a0001c0001t0013	a0001c0001t0009g0103 a0001c0001t0013g0156 a0001c0001t0009g0103 a0001c0001t0013g0156	2	252	0.0079	-21	c.151 others(38): Show c.1517+653_1517+673delAAAAAAAAAAAAAAAAATATA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
AUTS2_chr7_69593475_70798506	69670555	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(25): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG02055.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03704.hp1 NA18612.hp1 NA18952.hp1 NA19030.hp1 NA19240.hp1 NA20752.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0008 others(2): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0025 a0001c0003t0008 a0001c0008t0017 a0002c0002t0001 a0002c0002t0024 a0004c0009t0001	a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 others(25): Show a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0004g0042 a0001c0001t0004g0048 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0010g0065 a0001c0001t0011g0041 a0001c0001t0021g0060 a0001c0001t0025g0050 a0001c0003t0008g0039 a0001c0008t0017g0046 a0002c0002t0001g0057 a0002c0002t0024g0059 a0004c0009t0001g0043	28	76	0.3684	-21	c.309 others(40): Show c.309+70609_309+70629delAAAAAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70156891	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0018 a0001c0001t0006 a0001c0001t0018	a0001c0001t0006g0038 a0001c0001t0018g0003 a0001c0001t0006g0038 a0001c0001t0018g0003	2	76	0.0263	-21	c.660 others(40): Show c.660+22336_660+22356delAAAAAAAAAAAAAAAAAAAAA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70185257	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	76	0.0132	-21	c.660 others(40): Show c.660+50693_660+50713delTTTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70796445	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01433.hp1 HG02258.hp2 others(8): Show HG01175.hp2 HG01433.hp1 HG02258.hp2 HG02886.hp2 HG03041.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp2 HG03579.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0029 a0001c0001t0034 a0001c0003t0027 a0001c0004t0013	a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0073 others(8): Show a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0003g0066 a0001c0001t0004g0056 a0001c0001t0009g0006 a0001c0001t0029g0022 a0001c0001t0034g0018 a0001c0003t0027g0009 a0001c0004t0013g0025	11	76	0.1447	-21	c.54 others(32): Show c.5450_*5470delTTTTTTTTTTTTTTTTTTTTT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding		2940		chr7	TogoVar
AVEN_chr15_33861227_34044204	33861798	CTGTTTTC others(14): Show CTGTTTTCATACTGCCTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04199.hp1 HG04115.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0079 a0002c0002t0001g0081	2	266	0.0075	-21	c.47 others(32): Show c.4794_*4814delAAAAAAGGCAGTATGAAAACA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding		4428		chr15	TogoVar
AVEN_chr15_33861227_34044204	33933506	CACACACA others(14): Show CACACACACACACACACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0044 a0010c0011t0001g0044	1	266	0.0038	-21	c.446 others(40): Show c.446-57532_446-57512delTCTGTGTGTGTGTGTGTGTGT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVEN_chr15_33861227_34044204	33962919	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0002 a0003c0003t0003g0002	1	266	0.0038	-21	c.445 others(40): Show c.445+40092_445+40112delTTTTTTTTTTTTTTTTTTTTT	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32540871	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0097 a0001c0002t0070g0097	1	330	0.0030	-21	c.94- others(36): Show c.94-2245_94-2225delTTTTTTTTTTTTTTTTTTTTT	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AXDND1_chr1_179360971_179559735	179398360	ACTGGGGG others(14): Show ACTGGGGGGAGCTGAGGTGCTC	A A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19007.hp2 NA18980.hp2 NA19007.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0256 a0002c0001t0001g0257 a0002c0001t0001g0256 a0002c0001t0001g0257	2	356	0.0056	-21	c.110 others(40): Show c.1109+3163_1109+3183delGGGGAGCTGAGGTGCTCCTGG	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488632	CTCCTTTC others(14): Show CTCCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01516.hp1 HG01517.hp2 others(5): Show HG00099.hp2 HG01516.hp1 HG01517.hp2 HG02895.hp1 HG03579.hp2 NA18995.hp1 NA19083.hp1 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0007 a0002c0001 others(1): Show a0001c0002 a0001c0007 a0002c0001 a0004c0005	a0001c0002t0001 a0001c0007t0001 a0002c0001t0001 others(1): Show a0001c0002t0001 a0001c0007t0001 a0002c0001t0001 a0004c0005t0001	a0001c0002t0001g0107 a0001c0002t0001g0132 a0001c0002t0001g0248 others(5): Show a0001c0002t0001g0107 a0001c0002t0001g0132 a0001c0002t0001g0248 a0001c0007t0001g0080 a0002c0001t0001g0313 a0002c0001t0001g0326 a0002c0001t0001g0327 a0004c0005t0001g0310	8	356	0.0225	-21	c.209 others(40): Show c.2092-2903_2092-2883delCTTTCTTTCTTTCTTTCTTTC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	338967	ACAGAGTC others(14): Show ACAGAGTCCAGCAGAGCACCAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp2 others(98): Show HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01516.hp1 HG01891.hp1 HG01981.hp2 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19068.hp2 NA19079.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0001c0016 a0001c0017 a0001c0018 a0001c0021 a0002c0006 a0002c0026 a0004c0024 a0005c0032 a0006c0031 a0010c0025 a0011c0015	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 others(32): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0031 a0001c0001t0034 a0001c0001t0049 a0001c0002t0001 a0001c0002t0005 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0012 a0001c0003t0013 a0001c0003t0021 a0001c0003t0022 a0001c0003t0036 a0001c0004t0001 a0001c0004t0013 a0001c0004t0032 a0001c0007t0008 a0001c0011t0019 a0001c0016t0008 a0001c0017t0048 a0001c0018t0003 a0001c0021t0002 a0002c0006t0001 a0002c0006t0025 a0002c0026t0025 a0004c0024t0039 a0005c0032t0010 a0006c0031t0004 a0010c0025t0033 a0011c0015t0008	a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 others(97): Show a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0010g0019 a0001c0001t0010g0027 a0001c0001t0010g0028 a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0013g0058 a0001c0001t0017g0018 a0001c0001t0017g0021 a0001c0001t0018g0037 a0001c0001t0018g0038 a0001c0001t0031g0056 a0001c0001t0034g0265 a0001c0001t0049g0370 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0256 a0001c0002t0005g0176 a0001c0002t0005g0180 a0001c0003t0003g0206 a0001c0003t0003g0207 a0001c0003t0003g0210 a0001c0003t0003g0212 a0001c0003t0003g0214 a0001c0003t0003g0221 a0001c0003t0003g0222 a0001c0003t0003g0223 a0001c0003t0004g0200 a0001c0003t0004g0201 a0001c0003t0004g0208 a0001c0003t0004g0209 a0001c0003t0004g0211 a0001c0003t0004g0264 a0001c0003t0011g0057 a0001c0003t0011g0060 a0001c0003t0011g0061 a0001c0003t0011g0062 a0001c0003t0011g0064 a0001c0003t0011g0065 a0001c0003t0012g0204 a0001c0003t0012g0205 a0001c0003t0012g0213 a0001c0003t0012g0215 a0001c0003t0012g0218 a0001c0003t0012g0219 a0001c0003t0013g0059 a0001c0003t0021g0068 a0001c0003t0021g0069 a0001c0003t0022g0216 a0001c0003t0022g0217 a0001c0003t0036g0276 a0001c0004t0001g0228 a0001c0004t0013g0278 a0001c0004t0013g0280 a0001c0004t0032g0279 a0001c0007t0008g0039 a0001c0007t0008g0040 a0001c0007t0008g0042 a0001c0007t0008g0043 a0001c0007t0008g0277 a0001c0011t0019g0002 a0001c0016t0008g0041 a0001c0017t0048g0225 a0001c0018t0003g0220 a0001c0021t0002g0025 a0002c0006t0001g0226 a0002c0006t0001g0227 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0231 a0002c0006t0025g0074 a0002c0026t0025g0166 a0004c0024t0039g0036 a0005c0032t0010g0026 a0006c0031t0004g0224 a0010c0025t0033g0063 a0011c0015t0008g0281	101	378	0.2672	-21	c.878 others(38): Show c.878+7160_878+7180delCTGGTGCTCTGCTGGACTCTG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AZU1_chr19_822837_837018	833263	TAATAATA others(14): Show TAATAATAATAATAATAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 NA18942.hp1 HG02630.hp2 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0004 a0001c0003t0001g0031 a0001c0002t0001g0004 a0001c0003t0001g0031	2	391	0.0051	-21	c.13 others(32): Show c.1387_*1407delAATAATAATAATAATAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1246		chr19	TogoVar
AZU1_chr19_822837_837018	833275	TAATAAGA others(14): Show TAATAAGAAGAAGAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	-21	c.13 others(32): Show c.1399_*1419delAATAAGAAGAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1258		chr19	TogoVar
AZU1_chr19_822837_837018	833278	TAAGAAGA others(14): Show TAAGAAGAAGAAGAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0005 a0008c0016t0005	a0008c0016t0005g0044 a0008c0016t0005g0044	1	391	0.0026	-21	c.14 others(32): Show c.1402_*1422delAAGAAGAAGAAGAAGAAGAAG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		1261		chr19	TogoVar
B3GALNT2_chr1_235442190_235509452	235474975	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0102 a0001c0001t0016g0102	1	344	0.0029	-21	c.652 others(38): Show c.652-4036_652-4016delAAAAAAAAATATATATATATA	B3GALNT2	ENSG00000162885.14	transcript	ENST00000366600.8	protein_coding	5/11			chr1	TogoVar
B3GAT2_chr6_70851679_70962060	70912660	TTATATCA others(14): Show TTATATCAGGATGATGCTGGCC	T T	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0024 a0001c0001t0019g0024	1	316	0.0032	-21	c.592 others(40): Show c.592-18409_592-18389delGGCCAGCATCATCCTGATATA	B3GAT2	ENSG00000112309.11	transcript	ENST00000230053.11	protein_coding	1/3			chr6	TogoVar
B3GLCT_chr13_31194975_31337276	31195762	CACCAAAA others(14): Show CACCAAAAACACCAACACATTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0171 a0002c0003t0002g0171	1	268	0.0037	-21	c.-43 others(32): Show c.-4322_-4302delACCAAAAACACCAACACATTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		4212		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31208096	TGTACTCT others(14): Show TGTACTCTGTACACAGTACAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	268	0.0037	-21	c.71- others(36): Show c.71-6943_71-6923delACAGTACAAAGTACTCTGTAC	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr13	TogoVar
B4GALNT3_chr12_454939_568509	511013	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01496.hp1 HG01891.hp1 others(5): Show HG01167.hp1 HG01496.hp1 HG01891.hp1 HG02717.hp1 HG03486.hp1 HG03516.hp2 NA18522.hp2 NA18906.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0011 a0014	a0001c0001 a0003c0004 a0005c0006 others(2): Show a0001c0001 a0003c0004 a0005c0006 a0011c0015 a0014c0022	a0001c0001t0016 a0001c0001t0087 a0003c0004t0002 others(4): Show a0001c0001t0016 a0001c0001t0087 a0003c0004t0002 a0005c0006t0001 a0005c0006t0002 a0011c0015t0013 a0014c0022t0010	a0001c0001t0016g0179 a0001c0001t0087g0190 a0003c0004t0002g0197 others(5): Show a0001c0001t0016g0179 a0001c0001t0087g0190 a0003c0004t0002g0197 a0003c0004t0002g0297 a0005c0006t0001g0304 a0005c0006t0002g0195 a0011c0015t0013g0280 a0014c0022t0010g0192	8	394	0.0203	-21	c.170 others(40): Show c.170-24131_170-24111delTTTTTTTTTTTTTTTTTTTTT	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	512137	ACCTTCCA others(14): Show ACCTTCCACCTTCCGCCTTCCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(57): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG01167.hp2 HG01243.hp1 HG01256.hp2 HG01517.hp1 HG01943.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02818.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03490.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp1 NA18941.hp1 NA18957.hp1 NA18962.hp2 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp2 NA18994.hp2 NA19007.hp1 NA19011.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19090.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0014 a0021 a0022	a0001c0001 a0001c0002 a0001c0010 others(13): Show a0001c0001 a0001c0002 a0001c0010 a0001c0016 a0001c0042 a0002c0003 a0003c0004 a0004c0005 a0005c0025 a0006c0007 a0007c0008 a0009c0018 a0011c0015 a0014c0022 a0021c0040 a0022c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0096 a0001c0002t0001 a0001c0002t0002 a0001c0010t0002 a0001c0016t0083 a0001c0042t0002 a0002c0003t0002 a0002c0003t0004 a0002c0003t0012 a0002c0003t0071 a0003c0004t0008 a0003c0004t0016 a0003c0004t0020 a0004c0005t0003 a0005c0025t0002 a0006c0007t0067 a0007c0008t0037 a0009c0018t0002 a0011c0015t0092 a0014c0022t0010 a0021c0040t0001 a0022c0043t0004	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0069 others(57): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0358 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0002g0040 a0001c0001t0002g0099 a0001c0001t0002g0209 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0154 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0298 a0001c0001t0005g0125 a0001c0001t0005g0326 a0001c0001t0005g0380 a0001c0001t0008g0271 a0001c0001t0008g0381 a0001c0001t0009g0117 a0001c0001t0009g0386 a0001c0001t0011g0107 a0001c0001t0012g0113 a0001c0001t0013g0391 a0001c0001t0014g0104 a0001c0001t0021g0325 a0001c0001t0035g0378 a0001c0001t0036g0213 a0001c0001t0042g0367 a0001c0001t0096g0003 a0001c0002t0001g0270 a0001c0002t0001g0288 a0001c0002t0002g0379 a0001c0010t0002g0118 a0001c0016t0083g0228 a0001c0042t0002g0203 a0002c0003t0002g0215 a0002c0003t0004g0348 a0002c0003t0012g0108 a0002c0003t0071g0296 a0003c0004t0008g0362 a0003c0004t0016g0313 a0003c0004t0020g0189 a0004c0005t0003g0094 a0005c0025t0002g0193 a0006c0007t0067g0205 a0007c0008t0037g0114 a0009c0018t0002g0132 a0011c0015t0092g0234 a0014c0022t0010g0086 a0021c0040t0001g0268 a0022c0043t0004g0119	60	394	0.1523	-21	c.170 others(40): Show c.170-22987_170-22967delGCCTTCCACCTTCCGCCTTCC	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GAT1_chr11_66340374_66352629	66347679	CCCGCCCG others(14): Show CCCGCCCGCCGCCCGCCGCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03834.hp1 HG02109.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	412	0.0049	-21	c.-15 others(30): Show c.-155_-135delCGGGCGGCGGGCGGCGGGCGG	B4GAT1	ENSG00000174684.7	transcript	ENST00000311181.5	protein_coding		51		chr11	TogoVar
BABAM2_chr2_27885729_28343901	28231785	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00741.hp1 HG01081.hp1 others(8): Show HG00735.hp1 HG00741.hp1 HG01081.hp1 HG01099.hp1 HG02615.hp2 HG02976.hp2 HG03017.hp2 HG03453.hp1 HG03486.hp2 NA18982.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0070 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0092 a0001c0001t0002g0003 a0001c0001t0002g0108 a0001c0001t0002g0132 a0001c0001t0004g0118	11	158	0.0696	-21	c.681 others(38): Show c.681-5399_681-5379delTTTTTTTTTTTTTTTTTTTTT	BABAM2	ENSG00000158019.21	transcript	ENST00000379624.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BAG3_chr10_119646380_119682819	119666547	TGTGCTCA others(14): Show TGTGCTCAGCGAGATGCACGAG	T T	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0201 a0001c0002t0007g0201	1	420	0.0024	-21	c.181 others(38): Show c.181-3265_181-3245delCGAGGTGCTCAGCGAGATGCA	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BAG4_chr8_38171855_38218301	38201868	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	306	0.0033	-21	c.379 others(38): Show c.379-5642_379-5622delATATATATATATTTTTTTTTT	BAG4	ENSG00000156735.11	transcript	ENST00000287322.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar

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