Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STON1_chr2_48525154_48603513	48590636	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18998.hp1 NA19011.hp1 NA18945.hp2 NA18998.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0095 a0001c0001t0003g0102 a0001c0001t0003g0087 a0001c0001t0003g0095 a0001c0001t0003g0102	3	4	0.7500	30	c.193 others(47): Show c.1931-993_1931-992insACACACACACACACACACACACACACAC AC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STPG2_chr4_97553872_98148476	97676053	A A	ATATATAC others(23): Show ATATATACTAAATATATACTATAGTATATAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03491.hp1 HG03492.hp1 HG02602.hp1 HG03491.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0002 a0001c0001t0001 a0002c0003t0002	a0001c0001t0001g0147 a0001c0001t0001g0154 a0002c0003t0002g0078 a0001c0001t0001g0147 a0001c0001t0001g0154 a0002c0003t0002g0078	3	264	0.0114	30	c.132 others(51): Show c.1320+36616_1320+36645dupCTATATACTATAGTATATATTTAG TATATA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	10/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	97729063	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	13	0.0769	30	c.120 others(51): Show c.1205-16279_1205-16250dupGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	9/10			chr4	TogoVar
STPG2_chr4_97553872_98148476	97996592	C C	CAAAGATT others(23): Show CAAAGATTAATAAATGGGACCTAATTAAACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0011	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0013 a0002c0003 a0002c0009 a0003c0004 a0004c0005 a0005c0008 a0006c0007 a0011c0014	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0006t0001 a0001c0013t0001 a0002c0003t0002 a0002c0009t0002 a0003c0004t0001 a0004c0005t0002 a0005c0008t0002 a0006c0007t0001 a0011c0014t0002	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(193): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0003g0115 a0001c0002t0001g0114 a0001c0002t0001g0120 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0159 a0001c0002t0001g0181 a0001c0002t0001g0252 a0001c0006t0001g0126 a0001c0006t0001g0128 a0001c0006t0001g0129 a0001c0006t0001g0134 a0001c0013t0001g0253 a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0013 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0086 a0002c0009t0002g0017 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0004c0005t0002g0005 a0004c0005t0002g0012 a0004c0005t0002g0019 a0004c0005t0002g0033 a0004c0005t0002g0034 a0004c0005t0002g0035 a0004c0005t0002g0045 a0004c0005t0002g0046 a0004c0005t0002g0047 a0004c0005t0002g0048 a0004c0005t0002g0049 a0004c0005t0002g0050 a0004c0005t0002g0060 a0004c0005t0002g0064 a0004c0005t0002g0065 a0004c0005t0002g0067 a0004c0005t0002g0072 a0004c0005t0002g0082 a0004c0005t0002g0087 a0005c0008t0002g0006 a0005c0008t0002g0015 a0006c0007t0001g0122 a0006c0007t0001g0180 a0011c0014t0002g0088	196	264	0.7424	30	c.613 others(49): Show c.613-15275_613-15274insAGTTTAATTAGGTCCCATTTATTAAT CTTT	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
STPG4_chr2_47081991_47160308	47084529	C C	CAGGCCTG others(23): Show CAGGCCTGAGAGAGGCGGAGGGGAGACCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0107 a0009c0014t0001g0107	1	350	0.0029	30	c.24 others(41): Show c.2449_*2478dupCAGGGTCTCCCCTCCGCCTCTCTCAGGCCT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2461		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(23): Show CACACACACACACACACACACAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	32	0.0313	30	c.21 others(41): Show c.2198_*2199insCTCTCTCTCTGTGTGTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(23): Show CACACACACACATACACACACAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01081.hp2 others(17): Show HG00140.hp1 HG00738.hp2 HG01081.hp2 HG01261.hp2 HG01884.hp1 HG02071.hp1 HG02647.hp2 HG03017.hp1 HG03139.hp2 HG03471.hp2 HG04199.hp1 HG06807.hp2 NA18945.hp1 NA18959.hp1 NA18973.hp1 NA18980.hp2 NA18986.hp1 NA18993.hp1 NA19081.hp1 NA19084.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0009 a0005c0008	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0085 others(17): Show a0001c0001t0001g0067 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0134 a0001c0001t0001g0157 a0001c0001t0001g0202 a0001c0001t0001g0221 a0001c0001t0001g0233 a0001c0001t0001g0242 a0002c0002t0001g0287 a0002c0002t0001g0289 a0002c0002t0001g0301 a0002c0002t0001g0325 a0003c0003t0001g0019 a0003c0003t0001g0021 a0003c0003t0001g0062 a0004c0009t0001g0006 a0005c0008t0001g0345	20	51	0.3922	30	c.21 others(41): Show c.2198_*2199insCTCTCTCTCTGTGTGTGTATGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(23): Show CACACACACACATACACACAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	32	0.0313	30	c.21 others(41): Show c.2198_*2199insCTCTCTCTCTCTGTGTGTATGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47084809	C C	CACACACA others(23): Show CACACACACATACACACACAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	32	0.0313	30	c.21 others(41): Show c.2198_*2199insCTCTCTCTCTCTGTGTGTGTATGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		2181		chr2	TogoVar
STPG4_chr2_47081991_47160308	47085030	C C	CACACACA others(23): Show CACACACACACACACACAGAGTGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	319	0.0031	30	c.19 others(41): Show c.1977_*1978insCTCTCTCTCACTCTGTGTGTGTGTGTGTGT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding		1960		chr2	TogoVar
STPG4_chr2_47081991_47160308	47134037	C C	CATACATA others(23): Show CATACATATACATATACATATACATATACAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA20752.hp1 HG00738.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0258 a0001c0001t0001g0100 a0001c0001t0001g0258	2	307	0.0065	30	c.400 others(47): Show c.400-3778_400-3777insATGTATATGTATATGTATATGTATATGT AT	STPG4	ENSG00000239605.11	transcript	ENST00000445927.7	protein_coding	3/6			chr2	TogoVar
STRADA_chr17_63697832_63746799	63740107	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02683.hp2 HG01099.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0149 a0001c0001t0003g0185 a0001c0001t0001g0149 a0001c0001t0003g0185	2	232	0.0086	30	c.-45 others(47): Show c.-45+1633_-45+1634insGTGTATATATATATATATATATATATAT AT	STRADA	ENSG00000266173.7	transcript	ENST00000336174.12	protein_coding	1/12			chr17	TogoVar
STRIP2_chr7_129429432_129493399	129477213	G G	GGAGGGGG others(23): Show GGAGGGGGAGGGGGAGGGGGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA19062.hp2 NA18962.hp2 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0084 a0002c0002t0002g0160 a0001c0001t0001g0084 a0002c0002t0002g0160	2	64	0.0313	30	c.194 others(49): Show c.1945-3567_1945-3566insGGAGGGGGAGGGGGAGGGAGAGGGAG AGGG	STRIP2	ENSG00000128578.10	transcript	ENST00000249344.7	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0243 a0001c0001t0033g0243	1	100	0.0100	30	c.-43 others(39): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STX12_chr1_27768219_27829443	27792192	A A	ATATGTAT others(23): Show ATATGTATATACATATATATATCTATATATG	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	226	0.0044	30	c.189 others(47): Show c.189-1340_189-1339insATGTATATACATATATATATCTATATAT GT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX12_chr1_27768219_27829443	27792197	T T	TATACATA others(23): Show TATACATATATATGTATCTATATATATGTAG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	226	0.0044	30	c.189 others(47): Show c.189-1307_189-1306insGATACATATATATGTATCTATATATATG TA	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX12_chr1_27768219_27829443	27792227	T T	TATACATA others(23): Show TATACATATATATGTATCTATATATATGTAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01192.hp1 others(3): Show HG00738.hp1 HG01106.hp1 HG01192.hp1 HG01952.hp2 HG02602.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(3): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183	6	218	0.0275	30	c.189 others(47): Show c.189-1199_189-1170dupCTATATATATGTAGATACATATATATGT AT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX12_chr1_27768219_27829443	27792257	G G	GATACATA others(23): Show GATACATATATATGTATCTATATATATGTAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp2 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0186 a0001c0001t0001g0187	2	118	0.0169	30	c.189 others(47): Show c.189-1247_189-1246insTATACATATATATGTATCTATATATATG TA	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX12_chr1_27768219_27829443	27792320	A A	ACATATAT others(23): Show ACATATATCTGTATCTATATATATGTATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02257.hp1 others(4): Show HG01243.hp1 HG02109.hp1 HG02257.hp1 HG02647.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0010 a0001c0002t0003 a0001c0001t0003 a0001c0001t0010 a0001c0002t0003	a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 others(4): Show a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0010g0037 a0001c0002t0003g0116	7	214	0.0327	30	c.189 others(47): Show c.189-1206_189-1205insCTGTATCTATATATATGTATATGCATAT AT	STX12	ENSG00000117758.14	transcript	ENST00000373943.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA19010.hp1 HG02622.hp1 NA19010.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0003 a0002c0002t0002 a0003c0003t0003	a0002c0002t0002g0074 a0003c0003t0003g0013 a0002c0002t0002g0074 a0003c0003t0003g0013	2	214	0.0093	30	c.205 others(47): Show c.205+3503_205+3504insATATATATATATATTTTTTTTTTTTTTT TT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(23): Show AAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0072 a0002c0002t0002g0072	1	213	0.0047	30	c.205 others(47): Show c.205+3503_205+3504insATATATATATATATATATATTTTTTTTT TT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX2_chr12_130784600_130844250	130844211	G G	GTATATAC others(23): Show GTATATACACAGTATATACTGTATATGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01884.hp1 HG02486.hp2 others(7): Show HG01175.hp1 HG01884.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03516.hp2 HG03540.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0018 a0002c0002t0002 a0002c0002t0018	a0002c0002t0002g0015 a0002c0002t0002g0071 a0002c0002t0002g0072 others(6): Show a0002c0002t0002g0015 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0018g0079	10	376	0.0266	30	c.-51 others(41): Show c.-5113_-5112insTATACATATACAGTATATACTGTGTATATA	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding		4962		chr12	TogoVar
STX8_chr17_9245471_9580820	9471031	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	24	0.0417	30	c.541 others(49): Show c.541+20797_541+20798insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108772072	C C	CTATCTAT others(23): Show CTATCTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18997.hp1 NA18990.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0035 a0001c0001t0002g0036	2	328	0.0061	30	c.439 others(45): Show c.439-585_439-556dupATATCATATATAAATACATATGATATCTAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5_chr6_147199417_147395473	147213477	T T	TGTGTGTG others(23): Show TGTGTGTGCGCGCGCGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0013 a0004c0013t0013	a0004c0013t0013g0185 a0004c0013t0013g0185	1	174	0.0057	30	c.248 others(47): Show c.248+7410_248+7411insTGTGTGCGCGCGCGCGCGCGCGCGCGCG CG	STXBP5	ENSG00000164506.16	transcript	ENST00000321680.11	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
STXBP6_chr14_24804454_25055147	25002359	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0146 a0001c0001t0064g0146	1	143	0.0070	30	c.-32 others(49): Show c.-32-27510_-32-27509insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	STXBP6	ENSG00000168952.16	transcript	ENST00000323944.10	protein_coding	1/5			chr14	TogoVar
SUCLA2_chr13_47937656_48006273	47943764	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19002.hp2 HG01433.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0230 a0002c0002t0001g0234 a0002c0002t0001g0230 a0002c0002t0001g0234	2	104	0.0192	30	c.131 others(47): Show c.1318-320_1318-319insTATATATATATATATATATATATATATA TA	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding	10/10			chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67399875	A A	AAAAGAGC others(23): Show AAAAGAGCATTAAAAACTCCCCCTGGCTAGG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	278	0.0036	30	c.118 others(47): Show c.1183+826_1183+855dupCCTAGCCAGGGGGAGTTTTTAATGCTCT TT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	10/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	35	0.0286	30	c.106 others(51): Show c.1063-21652_1063-21623dupTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102618931	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	36	0.0278	30	c.129 others(49): Show c.1296+1522_1296+1551dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SUGT1_chr13_52647836_52705909	52701802	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00642.hp2 others(11): Show HG00408.hp2 HG00597.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01346.hp2 HG01884.hp2 HG02300.hp2 HG03139.hp2 HG03239.hp1 HG04199.hp1 NA18965.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0046 a0001c0001t0061 a0001c0001t0071 a0001c0001t0106	a0001c0001t0002g0002 a0001c0001t0002g0056 a0001c0001t0002g0076 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0004g0027 a0001c0001t0004g0117 a0001c0001t0004g0130 a0001c0001t0007g0112 a0001c0001t0013g0007 a0001c0001t0046g0128 a0001c0001t0061g0070 a0001c0001t0071g0113 a0001c0001t0106g0137	14	24	0.5833	30	c.13 others(43): Show c.13967_*13968insACACACACACACACACACACACACACACAC	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		894		chr13	TogoVar
SULF1_chr8_69487847_69665912	69616128	G G	GTATATAT others(23): Show GTATATATATACACACATATATATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp2 others(2): Show HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 others(1): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0012 a0002c0011t0003	a0002c0002t0002g0201 a0002c0002t0003g0040 a0002c0002t0012g0294 others(2): Show a0002c0002t0002g0201 a0002c0002t0003g0040 a0002c0002t0012g0294 a0002c0002t0012g0295 a0002c0011t0003g0059	5	280	0.0179	30	c.137 others(49): Show c.1378-4886_1378-4885insATGTGTGTATATATATATACACACAT ATAT	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF2_chr20_47652406_47790481	47695760	G G	GCCACCCC others(23): Show GCCACCCCCCCACCCCCCCACCACACCAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	362	0.0028	30	c.568 others(47): Show c.568-5466_568-5465insTTTTGGTGTGGTGGGGGGGTGGGGGGGT GG	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	4/20			chr20	TogoVar
SULT1B1_chr4_69716167_69765620	69746104	A A	ATGTGTGG others(23): Show ATGTGTGGTGATGGGGGGGGGGGGGTGGGTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0144 a0001c0001t0004g0144	1	406	0.0025	30	c.375 others(47): Show c.375+3616_375+3617insAACCCACCCCCCCCCCCCCATCACCACA CA	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding	4/7			chr4	TogoVar
SULT1C2_chr2_108283895_108314915	108294461	A A	ATCTCTCC others(23): Show ATCTCTCCTTCCTCTTTTCTCTCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(132): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01928.hp1 HG01943.hp1 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18986.hp1 NA18994.hp2 NA19001.hp2 NA19006.hp1 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19072.hp1 NA19075.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0001c0013 a0002c0002 others(3): Show a0001c0001 a0001c0013 a0002c0002 a0003c0003 a0004c0004 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0013t0011 a0002c0002t0004 a0002c0002t0007 a0002c0002t0012 a0003c0003t0001 a0004c0004t0003 a0004c0004t0005 a0007c0008t0008	a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0001g0118 others(69): Show a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0145 a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0003g0040 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0005g0019 a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0005g0037 a0001c0001t0005g0119 a0001c0001t0005g0125 a0001c0001t0006g0014 a0001c0001t0006g0023 a0001c0001t0006g0060 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0122 a0001c0001t0006g0123 a0001c0001t0006g0124 a0001c0001t0006g0126 a0001c0001t0008g0059 a0001c0001t0010g0002 a0001c0001t0010g0135 a0001c0001t0011g0065 a0001c0001t0014g0063 a0001c0001t0016g0062 a0001c0001t0017g0014 a0001c0001t0018g0009 a0001c0013t0011g0064 a0002c0002t0004g0007 a0002c0002t0004g0027 a0002c0002t0004g0028 a0002c0002t0004g0056 a0002c0002t0004g0057 a0002c0002t0004g0058 a0002c0002t0007g0008 a0002c0002t0007g0046 a0002c0002t0007g0047 a0002c0002t0007g0048 a0002c0002t0007g0050 a0002c0002t0012g0054 a0003c0003t0001g0013 a0003c0003t0001g0129 a0004c0004t0003g0041 a0004c0004t0005g0149 a0007c0008t0008g0061	135	340	0.3971	30	c.277 others(45): Show c.277+122_277+123insTTCTCTCTCCCTCCCTCTCTCCTTCCTCTT	SULT1C2	ENSG00000198203.10	transcript	ENST00000251481.11	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03579.hp2 HG01346.hp2 HG03579.hp2	a0001 a0001	a0001c0006 a0001c0007 a0001c0006 a0001c0007	a0001c0006t0001 a0001c0007t0001 a0001c0006t0001 a0001c0007t0001	a0001c0006t0001g0007 a0001c0007t0001g0034 a0001c0006t0001g0007 a0001c0007t0001g0034	2	83	0.0241	30	c.214 others(45): Show c.214+280_214+281insCTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SUMF1_chr3_4356146_4472269	4456773	C C	CATATATA others(23): Show CATATATACGTGTGTGTATATATACGTGTAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	317	0.0032	30	c.271 others(47): Show c.271-3725_271-3724insATACACGTATATATACACACACGTATAT AT	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456773	C C	CATATATA others(23): Show CATATATACGTGTGTGTGTATATACGTGTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp2 HG02622.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0128 a0001c0001t0004g0129	2	318	0.0063	30	c.271 others(47): Show c.271-3725_271-3724insATACACGTATATACACACACACGTATAT AT	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUN1_chr7_827476_879934	876361	A A	ACCCGCCC others(23): Show ACCCGCCCCTGGGTCACGTGTTGCCTGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02647.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0263 a0001c0001t0001g0041 a0001c0001t0001g0263	2	410	0.0049	30	c.30 others(41): Show c.3030_*3031insCCCGCCCCTGGGTCACGTGTTGCCTGCGGG	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding		1428		chr7	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0079	1	49	0.0204	30	c.212 others(45): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAAGAAAGAAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUN5_chr20_32978775_33009433	33001544	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03225.hp2 HG03486.hp2 HG02451.hp1 HG03225.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168	3	375	0.0080	30	c.212 others(45): Show c.212-267_212-266insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(23): Show ATATATATATATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03516.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	2	215	0.0093	30	c.-14 others(41): Show c.-1456_-1455insTATATATATATTTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT20HL1_chrX_24355639_24372839	24360488	C C	CACACACA others(23): Show CACACACACGTACACACATACACACACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02809.hp1 others(3): Show HG02451.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp1 HG03130.hp1 NA20129.hp2	a0002 a0020 a0002 a0020	a0002c0002 a0020c0031 a0002c0002 a0020c0031	a0002c0002t0003 a0020c0031t0003 a0002c0002t0003 a0020c0031t0003	a0002c0002t0003g0000 a0020c0031t0003g0000 a0002c0002t0003g0000 a0020c0031t0003g0000	6	278	0.0216	30	c.-22 others(41): Show c.-2273_-2272insACACACACGTACACACATACACACACACTG	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding		150		chrX	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(23): Show CAAAATAAATAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02970.hp2 HG01255.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0005 a0001c0001t0006g0002 a0001c0001t0006g0005	2	107	0.0187	30	c.912 others(47): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTTTTTATTTATT TT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	44944781	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0099 a0001c0006t0017g0099	1	261	0.0038	30	c.801 others(47): Show c.801+8528_801+8529insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	9/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45158298	A A	ATATATAT others(23): Show ATATATATATATATATATATATAATTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp1 HG02602.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0009g0054 a0001c0001t0009g0055	2	66	0.0303	30	c.102 others(49): Show c.102-52293_102-52292insAAAAAAATTATATATATATATATATA TATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45204250	A A	AAAGAAGA others(23): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00621.hp1 others(12): Show HG00597.hp1 HG00609.hp2 HG00621.hp1 HG01243.hp2 HG01978.hp2 HG02630.hp1 HG02683.hp2 HG03017.hp2 HG03579.hp2 HG03710.hp2 NA18946.hp2 NA18963.hp1 NA19004.hp2 NA19011.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0198 others(12): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0004g0215 a0001c0001t0011g0162	15	21	0.7143	30	c.102 others(49): Show c.102-98274_102-98245dupCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCATATAT others(23): Show GCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA20905.hp2 HG01346.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0007 a0001c0001t0015	a0001c0001t0007g0052 a0001c0001t0015g0001 a0001c0001t0007g0052 a0001c0001t0015g0001	2	122	0.0164	30	c.102 others(51): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(23): Show GCCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0090 a0001c0001t0006g0090	1	121	0.0083	30	c.102 others(51): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45253848	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02922.hp2 HG03579.hp2 others(3): Show HG01069.hp1 HG02922.hp2 HG03579.hp2 NA18953.hp2 NA19001.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0252 a0001c0001t0001g0253	6	33	0.1818	30	c.101 others(51): Show c.101+111352_101+111353insATATATATATATATATATATATAT ATATAT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar

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