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 per page.

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
STK33_chr11_8386870_8599228	8553176	ATATATAT others(18): Show ATATATATATATATATATATATGGTG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0246 a0001c0002t0001g0246	1	334	0.0030	-25	c.-46 others(46): Show c.-466+40882_-466+40906delCACCATATATATATATATATATAT A	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	1/15			chr11	TogoVar
STK39_chr2_167949022_168252595	168018525	AAAGAAAA others(18): Show AAAGAAAAGAAAGAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp1 HG01884.hp2 others(6): Show HG01074.hp2 HG01884.hp1 HG01884.hp2 HG02647.hp2 HG02717.hp1 HG03130.hp2 HG03209.hp1 NA19030.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0003t0029 a0002c0002t0002 a0002c0002t0015	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 others(6): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0011g0130 a0001c0001t0013g0050 a0001c0003t0029g0139 a0002c0002t0002g0072 a0002c0002t0015g0006	9	270	0.0333	-25	c.137 others(44): Show c.1377-1455_1377-1431delCTTTCTTTCTTTTCTTTCTTTTCTT	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	14/17			chr2	TogoVar
STK3_chr8_98449633_98830688	98614587	GGCCAGTG others(18): Show GGCCAGTGGGTGTGCGCACCGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18522.hp2 HG03098.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0146 a0001c0001t0001g0025 a0001c0001t0001g0146	2	170	0.0118	-25	c.685 others(44): Show c.685-18443_685-18419delGCGCACGGTGCGCACACCCACTGGC	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	6/10			chr8	TogoVar
STK3_chr8_98449633_98830688	98795796	AAATACAA others(18): Show AAATACAATACAATACAATACAATAC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	170	0.0059	-25	c.27- others(42): Show c.27-21002_27-20978delGTATTGTATTGTATTGTATTGTATT	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding	1/10			chr8	TogoVar
STON1_chr2_48525154_48603513	48564455	CTTCTTCT others(18): Show CTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03831.hp1 NA18982.hp2 HG03098.hp1 HG03831.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0003t0024 a0001c0001t0001 a0001c0001t0003 a0001c0003t0024	a0001c0001t0001g0055 a0001c0001t0003g0345 a0001c0003t0024g0292 a0001c0001t0001g0055 a0001c0001t0003g0345 a0001c0003t0024g0292	3	376	0.0080	-25	c.-47 others(44): Show c.-47-16105_-47-16081delTCTTCTTCTTCTTCTTCTTCTTCTT	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STPG2_chr4_97553872_98148476	97616048	ATACATAT others(18): Show ATACATATAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0005 a0004c0005t0002g0005	1	266	0.0038	-25	c.132 others(46): Show c.1321-56956_1321-56932delATATATATATATATATTTATATGT A	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	98082433	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00673.hp1 others(45): Show HG00558.hp1 HG00597.hp1 HG00673.hp1 HG01261.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18956.hp1 NA18959.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA19000.hp1 NA19002.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0013 a0002c0003 a0004c0005 others(1): Show a0001c0013 a0002c0003 a0004c0005 a0005c0008	a0001c0013t0001 a0002c0003t0002 a0004c0005t0002 others(1): Show a0001c0013t0001 a0002c0003t0002 a0004c0005t0002 a0005c0008t0002	a0001c0013t0001g0253 a0002c0003t0002g0001 a0002c0003t0002g0002 others(45): Show a0001c0013t0001g0253 a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0003 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0035 a0002c0003t0002g0036 a0002c0003t0002g0038 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0055 a0002c0003t0002g0061 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0084 a0002c0003t0002g0085 a0004c0005t0002g0005 a0004c0005t0002g0012 a0004c0005t0002g0046 a0005c0008t0002g0006	48	266	0.1805	-25	c.612 others(44): Show c.612+23495_612+23519delAAAAAAAAAAAAAAAAAAAAAAAAA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
STPG3_chr9_137246286_137258483	137249961	GTGTGTCT others(18): Show GTGTGTCTGGAGGCCCTGCCCCTATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	404	0.0025	-25	c.-13 others(36): Show c.-1325_-1301delTGTGTCTGGAGGCCCTGCCCCTATC	STPG3	ENSG00000197768.11	transcript	ENST00000412566.6	protein_coding		1324		chr9	TogoVar
STPG3_chr9_137246286_137258483	137254006	CCTGGCTG others(18): Show CCTGGCTGGGGCCTCCCTTGTCATCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	404	0.0025	-25	c.76 others(34): Show c.762_*786delCTGGCTGGGGCCTCCCTTGTCATCA	STPG3	ENSG00000197768.11	transcript	ENST00000412566.6	protein_coding		524		chr9	TogoVar
STRIT1_chr3_155285227_155298683	155298088	GAAAGAAA others(18): Show GAAAGAAAGAAAAGAAACAAACACAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	444	0.0023	-25	c.-44 others(36): Show c.-4481_-4457delTTGTGTTTGTTTCTTTTCTTTCTTT	STRIT1	ENSG00000240045.2	transcript	ENST00000489090.2	protein_coding		4406		chr3	TogoVar
STS_chrX_7142712_7359641	7214956	TATATATA others(18): Show TATATATATTATATATGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	231	0.0043	-25	c.-5+ others(42): Show c.-5+23957_-5+23981delTATATATGTATATATACATATATAT	STS	ENSG00000101846.9	transcript	ENST00000674429.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
STT3B_chr3_31527925_31642616	31572015	CATATTAA others(18): Show CATATTAATATATATTAATATATGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp1 others(91): Show HG00140.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01167.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp2 HG02145.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18612.hp2 NA18941.hp1 NA18944.hp1 NA18945.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18982.hp2 NA18984.hp1 NA18987.hp2 NA18990.hp2 NA18993.hp2 NA18997.hp2 NA19001.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19090.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0227 a0001c0001t0006g0115 a0001c0001t0006g0140 a0001c0001t0007g0161 a0001c0006t0001g0089 a0001c0006t0001g0116	94	342	0.2749	-25	c.315 others(42): Show c.315-4368_315-4344delATTAATATATGATATATTAATATAT	STT3B	ENSG00000163527.10	transcript	ENST00000295770.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
STX1B_chr16_30984256_31015638	31013328	CCTCTTCC others(18): Show CCTCTTCCTCTTCCTCTTCCTCTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	282	0.0036	-25	c.-29 others(36): Show c.-2957_-2933delAGAAGAGGAAGAGGAAGAGGAAGAG	STX1B	ENSG00000099365.11	transcript	ENST00000215095.11	protein_coding		2691		chr16	TogoVar
STX2_chr12_130784600_130844250	130844128	TATATATG others(18): Show TATATATGTATATACAGAATATATAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00597.hp1 others(103): Show HG00099.hp1 HG00280.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01981.hp2 HG02055.hp2 HG02132.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18964.hp2 NA18965.hp1 NA18972.hp2 NA18993.hp2 NA18999.hp2 NA19003.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0005c0012	a0001c0001t0040 a0001c0004t0004 a0001c0004t0015 others(12): Show a0001c0001t0040 a0001c0004t0004 a0001c0004t0015 a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0022 a0002c0002t0028 a0002c0002t0030 a0002c0002t0032 a0002c0002t0038 a0005c0012t0019	a0001c0001t0040g0352 a0001c0004t0004g0006 a0001c0004t0004g0025 others(101): Show a0001c0001t0040g0352 a0001c0004t0004g0006 a0001c0004t0004g0025 a0001c0004t0004g0029 a0001c0004t0004g0030 a0001c0004t0004g0031 a0001c0004t0015g0026 a0001c0004t0015g0027 a0001c0004t0015g0028 a0002c0002t0002g0007 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0307 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0328 a0002c0002t0002g0339 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0008g0318 a0002c0002t0008g0329 a0002c0002t0008g0330 a0002c0002t0008g0331 a0002c0002t0009g0285 a0002c0002t0009g0308 a0002c0002t0009g0309 a0002c0002t0009g0310 a0002c0002t0018g0294 a0002c0002t0019g0350 a0002c0002t0020g0018 a0002c0002t0022g0024 a0002c0002t0028g0340 a0002c0002t0030g0348 a0002c0002t0032g0075 a0002c0002t0038g0321 a0005c0012t0019g0351	106	380	0.2790	-25	c.-50 others(36): Show c.-5054_-5030delGTATATATTCTGTATATACATATAT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4879		chr12	TogoVar
STX6_chr1_180967725_181027870	181023095	CCTCTCTC others(18): Show CCTCTCTCTCCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	350	0.0029	-25	c.-44 others(34): Show c.-447_-423delAGAGAGAGAGAGAGAGGAGAGAGAG	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		226		chr1	TogoVar
STX7_chr6_132440867_132518116	132507647	TCATTATT others(18): Show TCATTATTGCCAAATAATATTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG01891.hp1 others(52): Show HG00558.hp2 HG00597.hp1 HG01891.hp1 HG01934.hp2 HG02071.hp2 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02572.hp2 HG02630.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18948.hp1 NA18949.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp2 NA19075.hp2 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0038 a0001c0001t0043 a0001c0001t0069 a0001c0001t0070 a0001c0001t0074 a0001c0001t0076 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118	a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0003g0033 others(50): Show a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0079 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0006g0060 a0001c0001t0007g0053 a0001c0001t0011g0004 a0001c0001t0011g0048 a0001c0001t0011g0049 a0001c0001t0011g0051 a0001c0001t0011g0052 a0001c0001t0012g0056 a0001c0001t0012g0059 a0001c0001t0012g0072 a0001c0001t0012g0073 a0001c0001t0012g0074 a0001c0001t0012g0078 a0001c0001t0013g0005 a0001c0001t0013g0055 a0001c0001t0013g0057 a0001c0001t0013g0075 a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 a0001c0001t0014g0044 a0001c0001t0015g0039 a0001c0001t0016g0045 a0001c0001t0038g0054 a0001c0001t0038g0064 a0001c0001t0043g0080 a0001c0001t0069g0050 a0001c0001t0070g0034 a0001c0001t0074g0038 a0001c0001t0076g0058 a0001c0001t0113g0047 a0001c0001t0115g0040 a0001c0001t0116g0046 a0001c0001t0117g0036 a0001c0001t0118g0037	55	380	0.1447	-25	c.-58 others(42): Show c.-58-4084_-58-4060delGAAGGAATATTATTTGGCAATAATG	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX7_chr6_132440867_132518116	132509452	AATAACAT others(18): Show AATAACATAACATAACATAACATAAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01993.hp2 HG02080.hp1 others(6): Show HG01255.hp1 HG01993.hp2 HG02080.hp1 HG02683.hp1 HG02735.hp2 HG03490.hp2 HG03492.hp1 NA18994.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0033 others(4): Show a0001c0001t0001 a0001c0001t0024 a0001c0001t0033 a0001c0001t0078 a0001c0001t0081 a0001c0001t0087 a0001c0001t0099	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0024g0193 others(6): Show a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0024g0193 a0001c0001t0024g0194 a0001c0001t0033g0281 a0001c0001t0078g0282 a0001c0001t0081g0341 a0001c0001t0087g0283 a0001c0001t0099g0192	9	380	0.0237	-25	c.-59 others(42): Show c.-59+3530_-59+3554delGTTATGTTATGTTATGTTATGTTAT	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX8_chr17_9245471_9580820	9315979	CACTCCAG others(18): Show CACTCCAGCCTGGGTGATAGAGTGAG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03130.hp1 NA19043.hp1 HG01891.hp2 HG03130.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0002 a0001c0008t0001 a0001c0001t0001 a0001c0002t0002 a0001c0008t0001	a0001c0001t0001g0123 a0001c0002t0002g0002 a0001c0008t0001g0183 a0001c0001t0001g0123 a0001c0002t0002g0002 a0001c0008t0001g0183	3	188	0.0160	-25	c.643 others(44): Show c.643+62548_643+62572delCTCACTCTATCACCCAGGCTGGAGT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121420376	ATGATACA others(18): Show ATGATACAAAATCAATGCTTTTGTCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00609.hp1 others(21): Show HG00099.hp1 HG00558.hp1 HG00609.hp1 HG01069.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01361.hp1 HG01943.hp1 HG02129.hp2 HG02145.hp1 HG02683.hp2 HG03491.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 NA18954.hp1 NA18978.hp2 NA18979.hp1 NA18995.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0010 a0001c0001 a0007c0010	a0001c0001t0004 a0001c0001t0006 a0001c0001t0025 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0025 a0007c0010t0006	a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 others(21): Show a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0025g0231 a0007c0010t0006g0236	24	290	0.0828	-25	c.12 others(36): Show c.1280_*1304delTGATACAAAATCAATGCTTTTGTCC	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	27/27	1280		chr3	TogoVar
STXBP5_chr6_147199417_147395473	147372406	CCTTTTTT others(18): Show CCTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01081.hp2 HG01243.hp1 others(4): Show HG00544.hp1 HG01081.hp2 HG01243.hp1 HG02155.hp1 HG03130.hp2 NA18522.hp2 NA18939.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0002c0002t0002	a0001c0001t0001g0204 a0001c0001t0003g0057 a0001c0001t0003g0307 others(4): Show a0001c0001t0001g0204 a0001c0001t0003g0057 a0001c0001t0003g0307 a0001c0001t0018g0335 a0001c0001t0018g0336 a0001c0001t0018g0337 a0002c0002t0002g0070	7	350	0.0200	-25	c.308 others(44): Show c.3082-1324_3082-1300delCTTTTTTTTTTTTTTTTTTTTTTTT	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	25/27			chr6	TogoVar
SUCLA2_chr13_47937656_48006273	47989472	AAGTGCTG others(18): Show AAGTGCTGGGATTACAGGCGTGAGCC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03516.hp1 HG03041.hp2 HG03098.hp1 HG03516.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0280 a0004c0005t0001g0281 a0004c0005t0001g0282 a0004c0005t0001g0280 a0004c0005t0001g0281 a0004c0005t0001g0282	3	358	0.0084	-25	c.272 others(40): Show c.272-516_272-492delGGCTCACGCCTGTAATCCCAGCACT	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	2/10			chr13	TogoVar
SUDS3_chr12_118371555_118423033	118410555	CTTTATTT others(18): Show CTTTATTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG01192.hp1 others(37): Show HG00544.hp2 HG00597.hp1 HG01192.hp1 HG01346.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02135.hp1 HG02451.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03831.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18947.hp1 NA18952.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp2 NA18978.hp2 NA18991.hp1 NA19063.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 others(4): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0016 a0001c0001t0026 a0001c0001t0039 a0001c0001t0041	a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0018 others(29): Show a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0132 a0001c0001t0009g0061 a0001c0001t0009g0062 a0001c0001t0009g0063 a0001c0001t0011g0016 a0001c0001t0011g0053 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0011g0065 a0001c0001t0011g0066 a0001c0001t0016g0059 a0001c0001t0016g0060 a0001c0001t0016g0067 a0001c0001t0026g0078 a0001c0001t0039g0068 a0001c0001t0041g0064	40	408	0.0980	-25	c.804 others(40): Show c.804-490_804-466delTATTTATTTATTTATTTATTTATTT	SUDS3	ENSG00000111707.12	transcript	ENST00000543473.2	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
SUFU_chr10_102498972_102638535	102557508	ACTTGAGC others(18): Show ACTTGAGCCAGGGAGGTCGAGGCTGC	A A	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	268	0.0037	-25	c.454 others(42): Show c.454+7428_454+7452delCTTGAGCCAGGGAGGTCGAGGCTGC	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SULF2_chr20_47652406_47790481	47745391	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0036 a0001c0027t0001g0036	1	364	0.0028	-25	c.176 others(42): Show c.176-8474_176-8450delATATATTTTTTTTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745393	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA20129.hp2 NA18974.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0012 a0001c0001t0001 a0001c0017t0012	a0001c0001t0001g0109 a0001c0017t0012g0013 a0001c0001t0001g0109 a0001c0017t0012g0013	2	364	0.0055	-25	c.176 others(42): Show c.176-8476_176-8452delATATATATTTTTTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745395	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0015 a0001c0001t0005g0015	1	364	0.0028	-25	c.176 others(42): Show c.176-8478_176-8454delATATATATATTTTTTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47745399	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0003 a0001c0029t0003	a0001c0029t0003g0349 a0001c0029t0003g0349	1	364	0.0028	-25	c.176 others(42): Show c.176-8482_176-8458delATATATATATATATTTTTTTTTTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULT2B1_chr19_48547172_48604423	48602705	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	376	0.0027	-25	c.33 others(36): Show c.3300_*3324delTATATATATATATATATATATATAT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding		3283		chr19	TogoVar
SUPT3H_chr6_44821726_45382934	45200326	CTAGTAAG others(18): Show CTAGTAAGTTACCATTAAATGAAAGT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0104 a0001c0002t0016g0104	1	262	0.0038	-25	c.102 others(44): Show c.102-94345_102-94321delACTTTCATTTAATGGTAACTTACTA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT4H1_chr17_58340178_58357201	58357090	CACCATGT others(18): Show CACCATGTTGGCCAGGTTGGTCTTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	438	0.0023	-25	c.-49 others(36): Show c.-4980_-4956delTCAAGACCAACCTGGCCAACATGGT	SUPT4H1	ENSG00000213246.7	transcript	ENST00000225504.8	protein_coding		4890		chr17	TogoVar
SUSD5_chr3_33145043_33223810	33204627	ATTTTGTT others(18): Show ATTTTGTTTTGTTTTGTTTTGTTTTG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03834.hp2 HG01943.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0329 a0002c0002t0002g0336 a0001c0001t0001g0329 a0002c0002t0002g0336	2	404	0.0050	-25	c.409 others(42): Show c.409+3156_409+3180delCAAAACAAAACAAAACAAAACAAAA	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SV2B_chr15_91095257_91307565	91158633	CCTCTTCT others(18): Show CCTCTTCTCTTCTCTTCTCTTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG02559.hp1 others(2): Show HG01243.hp2 HG01496.hp2 HG02559.hp1 HG02976.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0007 a0001c0001 a0001c0005 a0001c0007	a0001c0001t0012 a0001c0001t0019 a0001c0005t0008 others(1): Show a0001c0001t0012 a0001c0001t0019 a0001c0005t0008 a0001c0007t0002	a0001c0001t0012g0184 a0001c0001t0019g0007 a0001c0005t0008g0009 others(2): Show a0001c0001t0012g0184 a0001c0001t0019g0007 a0001c0005t0008g0009 a0001c0007t0002g0040 a0001c0007t0002g0185	5	214	0.0234	-25	c.-39 others(46): Show c.-392+58315_-392+58339delTCTCTTCTCTTCTCTTCTCTTCTC T	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76172161	GGGCGCCT others(18): Show GGGCGCCTCTGCCCGGCCGCCCCTAC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0121 a0001c0002t0015g0121	1	234	0.0043	-25	c.581 others(44): Show c.581-22757_581-22733delGGCGCCTCTGCCCGGCCGCCCCTAC	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12			chr5	TogoVar
SVEP1_chr9_110360248_110584741	110511488	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02155.hp1 NA19088.hp2 HG02074.hp2 HG02155.hp1 NA19088.hp2	a0004 a0022 a0046 a0004 a0022 a0046	a0004c0007 a0022c0018 a0046c0102 a0004c0007 a0022c0018 a0046c0102	a0004c0007t0002 a0022c0018t0003 a0046c0102t0001 a0004c0007t0002 a0022c0018t0003 a0046c0102t0001	a0004c0007t0002g0228 a0022c0018t0003g0153 a0046c0102t0001g0154 a0004c0007t0002g0228 a0022c0018t0003g0153 a0046c0102t0001g0154	3	362	0.0083	-25	c.130 others(44): Show c.1303+1413_1303+1437delAAAAAAAAAAAAAAAAAAAAAAAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	5/47			chr9	TogoVar
SWAP70_chr11_9659077_9757993	9675331	GAGAGAGA others(18): Show GAGAGAGAGAGGGAGCGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0093 a0001c0002t0011g0093	1	294	0.0034	-25	c.99+ others(42): Show c.99+11054_99+11078delAGAGAGAGAGGGAGCGAGAGAGAGA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11			chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG02074.hp2 others(3): Show HG00673.hp1 HG00673.hp2 HG02074.hp2 NA18946.hp1 NA18946.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0122 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0122 a0001c0001t0001g0230	6	386	0.0155	-25	c.32 others(36): Show c.3263_*3287delAAAAAAAAAAAAAAAAAAAAAAAAA	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		2990		chr9	TogoVar
SYNDIG1_chr20_24464629_24671616	24598231	GGCAGCAA others(18): Show GGCAGCAAGGGCAAAGTGCTTTAGAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	270	0.0037	-25	c.618 others(44): Show c.618+13242_618+13266delGCAAGGGCAAAGTGCTTTAGACGCA	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNE1_chr6_152116687_152642362	152371840	CAGGACAG others(18): Show CAGGACAGGAAAGGAAAGGAAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0058 a0058	a0058c0048 a0058c0048	a0058c0048t0001 a0058c0048t0001	a0058c0048t0001g0001 a0058c0048t0001g0001	1	174	0.0058	-25	c.950 others(44): Show c.9507+1172_9507+1196delTTCCTTTCCTTTCCTTTCCTGTCCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	59/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152371845	CAGGAAAG others(18): Show CAGGAAAGGAAAGGAAAGGAAAGGAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG02080.hp2 others(3): Show HG00558.hp1 HG00621.hp2 HG02080.hp2 HG03492.hp1 NA18951.hp2 NA19082.hp2	a0011 a0054 a0055 others(2): Show a0011 a0054 a0055 a0090 a0133	a0011c0031 a0011c0032 a0054c0047 others(3): Show a0011c0031 a0011c0032 a0054c0047 a0055c0046 a0090c0110 a0133c0010	a0011c0031t0006 a0011c0032t0010 a0054c0047t0003 others(3): Show a0011c0031t0006 a0011c0032t0010 a0054c0047t0003 a0055c0046t0002 a0090c0110t0011 a0133c0010t0001	a0011c0031t0006g0173 a0011c0032t0010g0138 a0054c0047t0003g0044 others(3): Show a0011c0031t0006g0173 a0011c0032t0010g0138 a0054c0047t0003g0044 a0055c0046t0002g0029 a0090c0110t0011g0004 a0133c0010t0001g0062	6	174	0.0345	-25	c.950 others(44): Show c.9507+1167_9507+1191delTTCCTTTCCTTTCCTTTCCTTTCCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	59/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152371905	AAGGAAAG others(18): Show AAGGAAAGGAAAGGAAAGGACAGGAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01261.hp1 others(22): Show HG01109.hp1 HG01167.hp2 HG01261.hp1 HG01884.hp2 HG02109.hp2 HG02129.hp2 HG02280.hp2 HG02622.hp1 HG02647.hp2 HG02896.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03540.hp1 HG03942.hp2 NA18906.hp1 NA18957.hp2 NA18961.hp1 NA18971.hp1 NA18977.hp1 NA18994.hp2 NA19000.hp1 NA19082.hp1 NA19087.hp2 NA19088.hp1	a0002 a0003 a0004 others(17): Show a0002 a0003 a0004 a0005 a0010 a0014 a0021 a0036 a0059 a0060 a0067 a0071 a0072 a0079 a0086 a0089 a0098 a0121 a0124 a0125	a0002c0055 a0002c0056 a0002c0058 others(22): Show a0002c0055 a0002c0056 a0002c0058 a0003c0146 a0004c0090 a0004c0092 a0004c0096 a0004c0104 a0005c0059 a0010c0023 a0014c0060 a0021c0154 a0036c0052 a0059c0074 a0060c0075 a0067c0095 a0071c0098 a0072c0088 a0079c0100 a0086c0165 a0089c0108 a0098c0151 a0121c0116 a0124c0020 a0125c0014	a0002c0055t0005 a0002c0056t0009 a0002c0058t0005 others(22): Show a0002c0055t0005 a0002c0056t0009 a0002c0058t0005 a0003c0146t0003 a0004c0090t0001 a0004c0092t0001 a0004c0096t0002 a0004c0104t0008 a0005c0059t0012 a0010c0023t0004 a0014c0060t0007 a0021c0154t0003 a0036c0052t0016 a0059c0074t0003 a0060c0075t0001 a0067c0095t0002 a0071c0098t0004 a0072c0088t0006 a0079c0100t0008 a0086c0165t0018 a0089c0108t0005 a0098c0151t0006 a0121c0116t0001 a0124c0020t0003 a0125c0014t0005	a0002c0055t0005g0102 a0002c0056t0009g0134 a0002c0058t0005g0088 others(22): Show a0002c0055t0005g0102 a0002c0056t0009g0134 a0002c0058t0005g0088 a0003c0146t0003g0107 a0004c0090t0001g0117 a0004c0092t0001g0028 a0004c0096t0002g0072 a0004c0104t0008g0156 a0005c0059t0012g0140 a0010c0023t0004g0056 a0014c0060t0007g0133 a0021c0154t0003g0113 a0036c0052t0016g0008 a0059c0074t0003g0059 a0060c0075t0001g0061 a0067c0095t0002g0096 a0071c0098t0004g0012 a0072c0088t0006g0136 a0079c0100t0008g0157 a0086c0165t0018g0174 a0089c0108t0005g0067 a0098c0151t0006g0125 a0121c0116t0001g0040 a0124c0020t0003g0082 a0125c0014t0005g0090	25	174	0.1437	-25	c.950 others(44): Show c.9507+1107_9507+1131delGTCCTGTCCTTTCCTTTCCTTTCCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	59/145			chr6	TogoVar
SYNE3_chr14_95402266_95521650	95488697	GGAGGAGA others(18): Show GGAGGAGAGGAGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02922.hp1 others(3): Show HG01255.hp2 HG02451.hp1 HG02922.hp1 HG03139.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0009 a0011	a0001c0011 a0002c0017 a0007c0036 others(2): Show a0001c0011 a0002c0017 a0007c0036 a0009c0033 a0011c0023	a0001c0011t0024 a0002c0017t0031 a0007c0036t0135 others(3): Show a0001c0011t0024 a0002c0017t0031 a0007c0036t0135 a0009c0033t0177 a0011c0023t0033 a0011c0023t0205	a0001c0011t0024g0350 a0002c0017t0031g0004 a0007c0036t0135g0358 others(3): Show a0001c0011t0024g0350 a0002c0017t0031g0004 a0007c0036t0135g0358 a0009c0033t0177g0353 a0011c0023t0033g0351 a0011c0023t0205g0352	6	384	0.0156	-25	c.-14 others(44): Show c.-14-12887_-14-12863delTCCTCTCCTCTCCTCTCCTCTCCTC	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNJ2_chr6_157976863_158104176	157981733	AGCGCGGG others(18): Show AGCGCGGGGCCGGGCGGGAGGCGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0181 a0002c0004t0005g0181	1	312	0.0032	-25	c.-22 others(34): Show c.-228_-204delGCGCGGGGCCGGGCGGGAGGCGGCG	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding		129		chr6	TogoVar
SYNJ2_chr6_157976863_158104176	158000064	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(118): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01981.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0005 others(8): Show a0001 a0002 a0005 a0006 a0007 a0008 a0009 a0013 a0015 a0017 a0018	a0001c0001 a0001c0006 a0001c0020 others(20): Show a0001c0001 a0001c0006 a0001c0020 a0001c0030 a0001c0041 a0001c0045 a0001c0046 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0010 a0002c0016 a0002c0031 a0005c0012 a0006c0011 a0007c0032 a0008c0049 a0009c0047 a0013c0035 a0015c0048 a0017c0017 a0018c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0006t0002 a0001c0006t0013 a0001c0020t0002 a0001c0030t0001 a0001c0041t0013 a0001c0045t0010 a0001c0046t0001 a0002c0002t0003 a0002c0002t0008 a0002c0002t0009 a0002c0002t0015 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0004t0005 a0002c0004t0007 a0002c0005t0003 a0002c0005t0012 a0002c0005t0023 a0002c0010t0019 a0002c0016t0011 a0002c0031t0006 a0005c0012t0003 a0006c0011t0001 a0007c0032t0022 a0008c0049t0003 a0009c0047t0003 a0013c0035t0003 a0015c0048t0016 a0017c0017t0002 a0018c0021t0003	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0063 others(118): Show a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0142 a0001c0001t0001g0163 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0221 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0125 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0182 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0242 a0001c0001t0002g0256 a0001c0001t0002g0305 a0001c0001t0018g0003 a0001c0001t0029g0090 a0001c0001t0030g0189 a0001c0001t0031g0201 a0001c0006t0002g0185 a0001c0006t0013g0159 a0001c0020t0002g0226 a0001c0030t0001g0123 a0001c0041t0013g0268 a0001c0045t0010g0271 a0001c0046t0001g0013 a0002c0002t0003g0088 a0002c0002t0003g0093 a0002c0002t0003g0098 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0171 a0002c0002t0003g0184 a0002c0002t0003g0204 a0002c0002t0003g0206 a0002c0002t0003g0304 a0002c0002t0008g0202 a0002c0002t0009g0106 a0002c0002t0009g0175 a0002c0002t0009g0214 a0002c0002t0009g0216 a0002c0002t0009g0217 a0002c0002t0009g0218 a0002c0002t0015g0183 a0002c0003t0004g0164 a0002c0003t0004g0228 a0002c0003t0004g0289 a0002c0003t0005g0243 a0002c0003t0005g0245 a0002c0003t0006g0117 a0002c0003t0006g0222 a0002c0003t0006g0223 a0002c0003t0006g0225 a0002c0004t0005g0180 a0002c0004t0005g0267 a0002c0004t0007g0248 a0002c0005t0003g0265 a0002c0005t0012g0089 a0002c0005t0012g0126 a0002c0005t0023g0127 a0002c0010t0019g0261 a0002c0016t0011g0025 a0002c0016t0011g0026 a0002c0031t0006g0118 a0005c0012t0003g0252 a0005c0012t0003g0253 a0006c0011t0001g0128 a0006c0011t0001g0129 a0006c0011t0001g0130 a0007c0032t0022g0244 a0008c0049t0003g0091 a0009c0047t0003g0207 a0013c0035t0003g0307 a0015c0048t0016g0224 a0017c0017t0002g0260 a0018c0021t0003g0137	121	312	0.3878	-25	c.128 others(44): Show c.128-17125_128-17101delTTTTTTTTTTTTTTTTTTTTTTTTT	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYT14_chr1_209933217_210176315	210044923	TATTACCA others(18): Show TATTACCAAGGGGATGGTACTAAACC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02559.hp2 HG02630.hp2 others(4): Show HG00741.hp1 HG02559.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0028 a0001c0001t0022 a0001c0001t0028	a0001c0001t0022g0348 a0001c0001t0022g0351 a0001c0001t0022g0352 others(4): Show a0001c0001t0022g0348 a0001c0001t0022g0351 a0001c0001t0022g0352 a0001c0001t0022g0353 a0001c0001t0028g0259 a0001c0001t0028g0349 a0001c0001t0028g0350	7	358	0.0196	-25	c.442 others(44): Show c.442+23673_442+23697delACCAAGGGGATGGTACTAAACCATT	SYT14	ENSG00000143469.21	transcript	ENST00000367019.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYT16_chr14_61807703_62117550	61971349	GCAGTTAG others(18): Show GCAGTTAGAATGTCATCTCAAGGCTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01952.hp1 others(15): Show HG00140.hp1 HG00735.hp1 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02056.hp1 HG02258.hp1 HG02683.hp1 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03688.hp1 NA18959.hp2 NA19002.hp1 NA19056.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(13): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0006 a0003c0004t0007 a0003c0004t0009 a0003c0004t0011 a0003c0004t0016 a0003c0004t0018 a0003c0004t0035 a0003c0004t0041 a0003c0004t0061	a0001c0001t0001g0019 a0001c0002t0002g0021 a0001c0002t0002g0023 others(15): Show a0001c0001t0001g0019 a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0004g0131 a0003c0004t0001g0096 a0003c0004t0002g0078 a0003c0004t0003g0061 a0003c0004t0004g0101 a0003c0004t0006g0113 a0003c0004t0006g0169 a0003c0004t0007g0115 a0003c0004t0009g0130 a0003c0004t0011g0076 a0003c0004t0016g0079 a0003c0004t0018g0049 a0003c0004t0035g0082 a0003c0004t0041g0036 a0003c0004t0061g0114	18	174	0.1035	-25	c.-14 others(44): Show c.-145+1056_-145+1080delCAAGGCTTCAGTTAGAATGTCATCT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT17_chr16_19163240_19273332	19240288	GTGAGCAA others(18): Show GTGAGCAAGACGAAGAGGAGCTTTAT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0261 a0001c0001t0034g0261	1	324	0.0031	-25	c.122 others(46): Show c.1228+15458_1228+15482delGACGAAGAGGAGCTTTATTGAGCA A	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SYT17_chr16_19163240_19273332	19272865	TCCCCTTT others(18): Show TCCCCTTTCTGCCCTTTTGTTCCAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0018 a0001c0002t0018g0018	1	324	0.0031	-25	c.57 others(36): Show c.5790_*5814delCCCCTTTCTGCCCTTTTGTTCCAGC	SYT17	ENSG00000103528.17	transcript	ENST00000355377.7	protein_coding		4534		chr16	TogoVar
SYT1_chr12_78859774_79457008	79224744	TTTATTTT others(18): Show TTTATTTTTTATTATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG03516.hp1 others(4): Show HG02486.hp1 HG02559.hp1 HG03516.hp1 NA18906.hp2 NA18992.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0050 a0001c0001t0003g0040 a0001c0001t0004g0003 others(3): Show a0001c0001t0001g0050 a0001c0001t0003g0040 a0001c0001t0004g0003 a0001c0001t0005g0042 a0001c0001t0006g0001 a0001c0001t0008g0032	7	62	0.1129	-25	c.166 others(42): Show c.166+7065_166+7089delTTTTATTATTATTATTATTATTATT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79293325	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01255.hp2 HG01258.hp2 HG00741.hp2 HG01255.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0022 a0001c0001t0003g0026 a0001c0001t0003g0055 a0001c0001t0001g0022 a0001c0001t0003g0026 a0001c0001t0003g0055	3	62	0.0484	-25	c.474 others(42): Show c.474+1256_474+1280delAAAATAAAATAAAATAAAATAAAAT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79293386	AAAATAAA others(18): Show AAAATAAAATAAAATAAAATAAAATT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02717.hp2 others(3): Show HG01243.hp2 HG02145.hp1 HG02717.hp2 HG03195.hp1 HG03225.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 others(3): Show a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0014	a0001c0001t0007g0024 a0001c0001t0009g0016 a0001c0002t0001g0029 others(3): Show a0001c0001t0007g0024 a0001c0001t0009g0016 a0001c0002t0001g0029 a0001c0003t0002g0005 a0001c0003t0005g0009 a0001c0003t0014g0056	6	62	0.0968	-25	c.474 others(42): Show c.474+1260_474+1284delTAAAATAAAATAAAATAAAATTAAA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr12	TogoVar

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