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
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	440	0.0023	30	c.-10 others(41): Show c.-1054_-1053insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST3A1_chr17_13489032_13606929	13512305	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0314 a0001c0001t0018g0314	1	338	0.0030	30	c.600 others(49): Show c.600-15488_600-15487insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3A1_chr17_13489032_13606929	13556514	G G	GAAATAAA others(23): Show GAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0034	1	338	0.0030	30	c.599 others(49): Show c.599+44016_599+44017insTATTTTATTTTATTTTATTTTATTTT ATTT	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329360	A A	AAGGAAGG others(23): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0344 a0001c0001t0007g0344	1	432	0.0023	30	c.555 others(49): Show c.555-15668_555-15667insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1			chr17	TogoVar
HS3ST3B1_chr17_14296081_14354404	14329364	A A	AAGGAAGG others(23): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	432	0.0023	30	c.555 others(49): Show c.555-15664_555-15663insAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	HS3ST3B1	ENSG00000125430.9	transcript	ENST00000360954.3	protein_coding	1/1			chr17	TogoVar
HS3ST4_chr16_25686959_26142685	25999892	A A	ATTATATA others(23): Show ATTATATATTTTATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02486.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0134 a0001c0001t0003g0001 a0001c0001t0003g0134	2	164	0.0122	30	c.735 others(51): Show c.735-135719_735-135718insTATATATTTTATATATATTATATA TATATT	HS3ST4	ENSG00000182601.7	transcript	ENST00000331351.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST5_chr6_114050596_114348023	114341222	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0086 a0001c0001t0016g0086	1	206	0.0049	30	c.-33 others(47): Show c.-339+943_-339+972dupTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS3ST5_chr6_114050596_114348023	114341222	G G	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGGGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0200 a0001c0001t0040g0200	1	206	0.0049	30	c.-33 others(47): Show c.-339+972_-339+973insTCTCTCTCTCCCCCTCTCTCTCTCTCTC TC	HS3ST5	ENSG00000249853.9	transcript	ENST00000312719.10	protein_coding	1/4			chr6	TogoVar
HS6ST1_chr2_128260480_128323868	128304575	T T	TTGGCTGG others(23): Show TTGGCTGGTGCAAACCCTGGCCCTCCCCATC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19091.hp2 NA19011.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0165 a0001c0001t0006g0164 a0001c0001t0002g0165 a0001c0001t0006g0164	2	294	0.0068	30	c.527 others(49): Show c.527+13461_527+13462insGATGGGGAGGGCCAGGGTTTGCACCA GCCA	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST1_chr2_128260480_128323868	128304575	T T	TTGGCTGG others(23): Show TTGGCTGGTGCAAACCCTGGCCCTCCCCGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.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 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18997.hp1 NA18998.hp2 NA19000.hp2 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19058.hp2 NA19062.hp1 NA19065.hp2 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0011 a0002c0003 a0003c0005 a0004c0009 a0005c0008	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(68): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0046 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0084 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0002t0001 a0001c0007t0016 a0001c0011t0047 a0002c0003t0005 a0002c0003t0025 a0003c0005t0009 a0004c0009t0079 a0005c0008t0038	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0103 others(169): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0127 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0145 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0049 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0065 a0001c0001t0003g0069 a0001c0001t0003g0080 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0132 a0001c0001t0004g0142 a0001c0001t0004g0146 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0166 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0005g0008 a0001c0001t0005g0117 a0001c0001t0005g0136 a0001c0001t0005g0168 a0001c0001t0005g0169 a0001c0001t0005g0170 a0001c0001t0005g0181 a0001c0001t0006g0101 a0001c0001t0006g0106 a0001c0001t0006g0119 a0001c0001t0006g0123 a0001c0001t0006g0129 a0001c0001t0006g0134 a0001c0001t0006g0154 a0001c0001t0006g0156 a0001c0001t0006g0158 a0001c0001t0006g0159 a0001c0001t0006g0190 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0007g0083 a0001c0001t0008g0070 a0001c0001t0008g0081 a0001c0001t0008g0084 a0001c0001t0008g0086 a0001c0001t0009g0114 a0001c0001t0009g0116 a0001c0001t0009g0118 a0001c0001t0009g0163 a0001c0001t0011g0068 a0001c0001t0012g0072 a0001c0001t0012g0073 a0001c0001t0015g0013 a0001c0001t0015g0015 a0001c0001t0015g0016 a0001c0001t0016g0062 a0001c0001t0016g0087 a0001c0001t0017g0050 a0001c0001t0017g0055 a0001c0001t0017g0064 a0001c0001t0018g0144 a0001c0001t0018g0184 a0001c0001t0018g0187 a0001c0001t0020g0038 a0001c0001t0020g0039 a0001c0001t0021g0079 a0001c0001t0022g0076 a0001c0001t0022g0077 a0001c0001t0024g0071 a0001c0001t0025g0126 a0001c0001t0026g0107 a0001c0001t0026g0110 a0001c0001t0027g0111 a0001c0001t0027g0171 a0001c0001t0031g0274 a0001c0001t0035g0270 a0001c0001t0036g0011 a0001c0001t0037g0014 a0001c0001t0039g0018 a0001c0001t0041g0019 a0001c0001t0043g0017 a0001c0001t0046g0040 a0001c0001t0049g0074 a0001c0001t0050g0059 a0001c0001t0051g0075 a0001c0001t0052g0063 a0001c0001t0053g0057 a0001c0001t0054g0082 a0001c0001t0055g0078 a0001c0001t0058g0089 a0001c0001t0059g0090 a0001c0001t0060g0091 a0001c0001t0061g0112 a0001c0001t0062g0115 a0001c0001t0063g0180 a0001c0001t0064g0137 a0001c0001t0065g0140 a0001c0001t0066g0185 a0001c0001t0067g0130 a0001c0001t0068g0175 a0001c0001t0069g0143 a0001c0001t0070g0138 a0001c0001t0071g0133 a0001c0001t0072g0108 a0001c0001t0073g0179 a0001c0001t0074g0151 a0001c0001t0075g0125 a0001c0001t0076g0148 a0001c0001t0077g0186 a0001c0001t0078g0141 a0001c0001t0080g0176 a0001c0001t0081g0147 a0001c0001t0084g0275 a0001c0001t0089g0277 a0001c0001t0090g0276 a0001c0001t0091g0278 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0007t0016g0056 a0001c0011t0047g0088 a0002c0003t0005g0007 a0002c0003t0005g0093 a0002c0003t0005g0095 a0002c0003t0005g0096 a0002c0003t0005g0097 a0002c0003t0005g0098 a0002c0003t0005g0099 a0002c0003t0025g0094 a0003c0005t0009g0092 a0004c0009t0079g0109 a0005c0008t0038g0012	180	294	0.6122	30	c.527 others(49): Show c.527+13461_527+13462insGACGGGGAGGGCCAGGGTTTGCACCA GCCA	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST1_chr2_128260480_128323868	128304577	G G	GGCTGGTG others(23): Show GGCTGGTGCAAACCCTGGCCCTCCCCGTCTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp2 HG02818.hp2 others(9): Show HG01891.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02976.hp2 HG03225.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA18950.hp1 NA18998.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0003 a0001c0001t0014 a0001c0001t0021 others(7): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0094 a0001c0010t0003	a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0014g0269 others(9): Show a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0014g0269 a0001c0001t0021g0048 a0001c0001t0023g0045 a0001c0001t0023g0085 a0001c0001t0040g0021 a0001c0001t0042g0020 a0001c0001t0044g0022 a0001c0001t0048g0046 a0001c0001t0094g0268 a0001c0010t0003g0023	12	294	0.0408	30	c.527 others(49): Show c.527+13459_527+13460insTAGACGGGGAGGGCCAGGGTTTGCAC CAGC	HS6ST1	ENSG00000136720.7	transcript	ENST00000259241.7	protein_coding	1/1			chr2	TogoVar
HS6ST2_chrX_132621015_132963629	132650741	A A	ATCTCTCT others(23): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	201	0.0050	30	c.106 others(51): Show c.1067+18342_1067+18371dupGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	4/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132684303	A A	ATATGTAT others(23): Show ATATGTATATATATGTATATACATATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	201	0.0050	30	c.981 others(49): Show c.981-15134_981-15105dupCATATATATGTATATACATATATATA CATA	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	3/4			chrX	TogoVar
HS6ST2_chrX_132621015_132963629	132829199	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	201	0.0050	30	c.948 others(51): Show c.948-120706_948-120705insGTGTATATATATATATATATATAT ATATAT	HS6ST2	ENSG00000171004.19	transcript	ENST00000370833.7	protein_coding	2/4			chrX	TogoVar
HS6ST3_chr13_96085107_96844562	96304713	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19007.hp2 HG04204.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0101 a0001c0001t0004g0018 a0001c0001t0003g0101 a0001c0001t0004g0018	2	116	0.0172	30	c.707 others(51): Show c.707+213145_707+213146insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96706413	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	116	0.0086	30	c.708 others(51): Show c.708-126049_708-126048insTATATATATATATATATATATATA TATATA	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96799984	A A	ATATATAT others(23): Show ATATATATATATATGTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19007.hp1 HG03834.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0004 a0001c0001t0003g0057 a0001c0001t0002g0004 a0001c0001t0003g0057	2	116	0.0172	30	c.708 others(49): Show c.708-32491_708-32462dupTATATATATATATATGTATATATATA TATG	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HS6ST3_chr13_96085107_96844562	96799998	G G	GTATATAT others(23): Show GTATATATATATATGTATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01358.hp1 HG02523.hp1 others(3): Show HG00621.hp1 HG01358.hp1 HG02523.hp1 NA18947.hp2 NA18960.hp2 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 others(3): Show a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0109 a0002c0002t0005g0061	6	116	0.0517	30	c.708 others(49): Show c.708-32479_708-32478insGTATATATATATATGTATATATATAT ATAT	HS6ST3	ENSG00000185352.10	transcript	ENST00000376705.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
HSD17B13_chr4_87298794_87327882	87299985	T T	TAAGTTCC others(23): Show TAAGTTCCCACTTAACTTTCCTGTAATTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	442	0.0023	30	c.52 others(41): Show c.5232_*5233insTGGAATTACAGGAAAGTTAAGTGGGAACTT	HSD17B13	ENSG00000170509.12	transcript	ENST00000328546.5	protein_coding		3808		chr4	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	394	0.0025	30	c.369 others(47): Show c.369+5139_369+5140insATATATATATATATATATATATATATTT TT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826528	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG00738.hp1 others(12): Show HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01167.hp1 HG01361.hp1 HG01934.hp2 HG02129.hp1 HG02132.hp2 HG03927.hp1 HG03927.hp2 NA18977.hp1 NA18983.hp1 NA18992.hp1 NA19066.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0001g0104 others(12): Show a0001c0001t0001g0066 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0214 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0280 a0002c0002t0001g0340	15	394	0.0381	30	c.369 others(47): Show c.369+5139_369+5140insATATATATATATATATATATATATATAT AT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	394	0.0025	30	c.369 others(47): Show c.369+5125_369+5126insGTGTATATATATATATATATATATATAT AT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48826542	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02165.hp1 HG02723.hp2 others(1): Show HG02004.hp1 HG02165.hp1 HG02723.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0118 a0001c0001t0001g0206 a0001c0001t0001g0278 others(1): Show a0001c0001t0001g0118 a0001c0001t0001g0206 a0001c0001t0001g0278 a0002c0002t0002g0017	4	394	0.0102	30	c.369 others(47): Show c.369+5125_369+5126insGTATATATATATATATATATATATATAT AT	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B2_chr16_82030253_82103534	82097284	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATACACATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG00741.hp1 others(4): Show HG00099.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG02129.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0267 others(4): Show a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0276 a0001c0001t0001g0292 a0001c0002t0001g0294	7	366	0.0191	30	c.803 others(45): Show c.803-765_803-736dupATATATGTGTGTGTATATATATATACACAT	HSD17B2	ENSG00000086696.11	transcript	ENST00000199936.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B3_chr9_96230306_96307176	96272373	A A	ATCTCTCT others(23): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02630.hp1 NA19066.hp2 HG01192.hp1 HG02630.hp1 NA19066.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0191 a0004c0004t0001g0225 a0001c0001t0001g0006 a0001c0001t0001g0191 a0004c0004t0001g0225	3	374	0.0080	30	c.202 others(49): Show c.202-17460_202-17431dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0250 a0002c0002t0003g0250	1	374	0.0027	30	c.202 others(49): Show c.202-17463_202-17462insTATATATATATATATAGAGAGAGAGA GAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18981.hp2 HG03654.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0107 a0001c0001t0001g0124	2	374	0.0054	30	c.202 others(49): Show c.202-17463_202-17462insTATATATATATATAGAGAGAGAGAGA GAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18953.hp2 NA18970.hp1 HG03831.hp2 NA18953.hp2 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0129 a0001c0001t0001g0137 a0002c0002t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0137 a0002c0002t0001g0121	3	374	0.0080	30	c.202 others(49): Show c.202-17463_202-17462insTATATAGAGAGAGAGAGAGAGAGAGA GAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG04199.hp2 HG02572.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0141 a0001c0001t0002g0367 a0001c0001t0001g0141 a0001c0001t0002g0367	2	374	0.0054	30	c.202 others(49): Show c.202-17463_202-17462insTATAGAGAGAGAGAGAGAGAGAGAGA GAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSD17B3_chr9_96230306_96307176	96272405	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19003.hp2 HG01109.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0321 a0001c0001t0001g0147 a0001c0001t0002g0321	2	374	0.0054	30	c.202 others(49): Show c.202-17463_202-17462insTAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding	2/10			chr9	TogoVar
HSDL1_chr16_84117141_84150177	84148596	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG03209.hp1 HG03471.hp2 HG02896.hp2 HG03209.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0291 a0001c0001t0004g0008 a0001c0001t0004g0291	3	448	0.0067	30	c.-35 others(41): Show c.-3586_-3585insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	HSDL1	ENSG00000103160.12	transcript	ENST00000219439.9	protein_coding		3420		chr16	TogoVar
HSPA12A_chr10_116666192_116747566	116712977	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG01081.hp1 others(20): Show HG00597.hp1 HG00597.hp2 HG01081.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG02055.hp1 HG02280.hp2 HG02523.hp2 HG03130.hp2 HG03486.hp1 HG03669.hp2 NA18950.hp1 NA18969.hp1 NA18975.hp2 NA18977.hp1 NA18981.hp2 NA18999.hp2 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0020 a0001c0001t0021 a0001c0001t0031 a0001c0002t0001 a0001c0007t0001 a0001c0012t0023	a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 others(20): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0222 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0003g0313 a0001c0001t0004g0033 a0001c0001t0004g0063 a0001c0001t0004g0187 a0001c0001t0006g0135 a0001c0001t0011g0255 a0001c0001t0020g0020 a0001c0001t0021g0217 a0001c0001t0031g0311 a0001c0002t0001g0038 a0001c0007t0001g0059 a0001c0012t0023g0006	23	320	0.0719	30	c.41- others(45): Show c.41-5722_41-5693dupATATATATATATATATATATATATATATAT	HSPA12A	ENSG00000165868.16	transcript	ENST00000369209.8	protein_coding	1/11			chr10	TogoVar
HSPA4_chr5_133047013_133111449	133085489	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19030.hp1 HG01496.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0054 a0001c0007t0012 a0001c0001t0054 a0001c0007t0012	a0001c0001t0054g0139 a0001c0007t0012g0142 a0001c0001t0054g0139 a0001c0007t0012g0142	2	364	0.0055	30	c.909 others(47): Show c.909-1280_909-1279insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HSPA4	ENSG00000170606.16	transcript	ENST00000304858.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
HSPG2_chr1_21817244_21942310	21905236	T T	TACACACA others(23): Show TACACACACACCCACCCACACACACCCACAC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0146 a0002c0146	a0002c0146t0014 a0002c0146t0014	a0002c0146t0014g0009 a0002c0146t0014g0009	1	310	0.0032	30	c.64- others(45): Show c.64-8956_64-8927dupGTGTGGGTGTGTGTGGGTGGGTGTGTGTGT	HSPG2	ENSG00000142798.20	transcript	ENST00000374695.8	protein_coding	1/96			chr1	TogoVar
HTN3_chr4_70023459_70041538	70036924	G G	GCCCCTCT others(23): Show GCCCCTCTCCCTCTCCCTCTCCCTCCCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02004.hp2 HG02258.hp1 others(7): Show HG01243.hp1 HG02004.hp2 HG02258.hp1 HG02572.hp2 HG02895.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG06807.hp2 NA19043.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0011 a0003c0004t0004g0066 a0003c0004t0004g0068 others(1): Show a0003c0004t0004g0011 a0003c0004t0004g0066 a0003c0004t0004g0068 a0003c0004t0004g0070	10	412	0.0243	30	c.69 others(39): Show c.691_*692insCCCCTCTCCCTCTCCCTCTCCCTCCCCCTT	HTN3	ENSG00000205649.9	transcript	ENST00000673563.1	protein_coding		387		chr4	TogoVar
HTR1F_chr3_87787706_87998839	87920029	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02486.hp2 HG00735.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0231 a0001c0001t0003g0060 a0001c0001t0002g0231 a0001c0001t0003g0060	2	250	0.0080	30	c.-42 others(49): Show c.-42-70658_-42-70657insATATATATATATATATATATATATAT ATAT	HTR1F	ENSG00000179097.7	transcript	ENST00000319595.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
HTR2C_chrX_114579086_114915061	114689208	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	176	0.0057	30	c.-79 others(49): Show c.-79-37627_-79-37626insATATATATATATATATATATATATAT ATAT	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114741524	T T	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp1 HG02698.hp1 others(14): Show HG00609.hp1 HG01358.hp1 HG02698.hp1 HG03831.hp2 HG04228.hp1 NA18940.hp1 NA18943.hp1 NA18948.hp1 NA18953.hp1 NA18990.hp1 NA19005.hp1 NA19060.hp1 NA19066.hp1 NA19079.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(14): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0174 a0001c0001t0003g0087 a0001c0001t0016g0121	17	176	0.0966	30	c.349 others(47): Show c.349+9942_349+9943insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR2C_chrX_114579086_114915061	114761888	T T	TGTGTATA others(23): Show TGTGTATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	176	0.0057	30	c.349 others(49): Show c.349+30354_349+30383dupATATATGTGTATATATACGTGTATAT ATAC	HTR2C	ENSG00000147246.10	transcript	ENST00000276198.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
HTR3B_chr11_113899796_113954079	113926468	T T	TTTTCCTT others(23): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02015.hp2 others(7): Show HG00741.hp1 HG01891.hp1 HG02015.hp2 HG02080.hp2 HG02132.hp2 HG02257.hp2 HG02559.hp2 HG03669.hp2 NA18963.hp2 NA18981.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0004c0007 others(1): Show a0001c0001 a0001c0003 a0004c0007 a0007c0011	a0001c0001t0005 a0001c0003t0003 a0001c0003t0021 others(2): Show a0001c0001t0005 a0001c0003t0003 a0001c0003t0021 a0004c0007t0019 a0007c0011t0003	a0001c0001t0005g0029 a0001c0001t0005g0055 a0001c0001t0005g0063 others(7): Show a0001c0001t0005g0029 a0001c0001t0005g0055 a0001c0001t0005g0063 a0001c0001t0005g0187 a0001c0003t0003g0086 a0001c0003t0003g0094 a0001c0003t0003g0102 a0001c0003t0021g0073 a0004c0007t0019g0315 a0007c0011t0003g0083	10	418	0.0239	30	c.214 others(47): Show c.214-4877_214-4848dupCCTTTCCTTTCCTTTCCTTTCCTTTCCT TT	HTR3B	ENSG00000149305.8	transcript	ENST00000260191.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
HTR5A_chr7_155065324_155092392	155073863	G G	GTATATAT others(23): Show GTATATATATATATATACGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0130 a0001c0001t0050g0130	1	430	0.0023	30	c.741 others(47): Show c.741+2224_741+2225insATATATATATATATACGTATATATATAT AT	HTR5A	ENSG00000157219.5	transcript	ENST00000287907.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
HYCC2_chr2_200968718_201076671	201076512	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03486.hp2 HG03195.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0005 a0001c0001t0005 a0002c0002t0005	a0001c0001t0005g0155 a0002c0002t0005g0151 a0001c0001t0005g0155 a0002c0002t0005g0151	2	176	0.0114	30	c.-50 others(41): Show c.-5032_-5031insTTATATATATATATATATATATATATATAT	HYCC2	ENSG00000155744.10	transcript	ENST00000681958.1	protein_coding		4842		chr2	TogoVar
HYDIN_chr16_70797084_71235722	70902794	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03139.hp1 HG02818.hp2 HG03139.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0012 a0003c0004t0005 a0003c0004t0012	a0003c0004t0005g0030 a0003c0004t0012g0066 a0003c0004t0005g0030 a0003c0004t0012g0066	2	174	0.0115	30	c.884 others(47): Show c.8849+830_8849+831insATATATATATATATATATATATATATAT AT	HYDIN	ENSG00000157423.18	transcript	ENST00000393567.7	protein_coding	52/85			chr16	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATAAATA others(23): Show AATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	296	0.0034	30	c.372 others(47): Show c.3726-237_3726-236insATATATATATATATATATATATATATTT AT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
IBTK_chr6_82164987_82252744	82173674	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03688.hp1 HG03492.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0021 a0002c0002t0002g0022	2	296	0.0068	30	c.372 others(47): Show c.3726-237_3726-236insATATATATATATATATATATATATATAT AT	IBTK	ENSG00000005700.15	transcript	ENST00000306270.12	protein_coding	26/28			chr6	TogoVar
ICA1L_chr2_202768176_202876766	202797132	T T	TTGTGTGT others(23): Show TTGTGTGTGTATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0004 a0001c0001t0084g0004	1	330	0.0030	30	c.911 others(45): Show c.911-169_911-168insCACACACACACACACATATATACACACACA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	9/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202836800	T T	TATATAGA others(23): Show TATATAGATATATATAGATATATAGATATAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02451.hp2 others(5): Show HG02055.hp2 HG02145.hp1 HG02451.hp2 HG02717.hp1 HG02895.hp1 HG03225.hp1 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0001t0027 a0001c0001t0041 others(4): Show a0001c0001t0022 a0001c0001t0027 a0001c0001t0041 a0001c0001t0044 a0001c0001t0079 a0001c0003t0065 a0001c0003t0078	a0001c0001t0022g0291 a0001c0001t0022g0293 a0001c0001t0027g0294 others(5): Show a0001c0001t0022g0291 a0001c0001t0022g0293 a0001c0001t0027g0294 a0001c0001t0041g0290 a0001c0001t0044g0292 a0001c0001t0079g0224 a0001c0003t0065g0019 a0001c0003t0078g0020	8	330	0.0242	30	c.-7- others(45): Show c.-7-7814_-7-7785dupCTATATCTATATATCTATATATATCTATAT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202836800	T T	TATATATA others(23): Show TATATATAGATATATAGATATATAGATATAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(93): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03209.hp1 HG03453.hp2 HG03490.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18984.hp2 NA18986.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19077.hp1 NA19078.hp2 NA19083.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp2 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0006 a0004c0005 a0001c0001 a0001c0006 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(15): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0048 a0001c0001t0049 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0067 a0001c0006t0035 a0004c0005t0011	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 others(92): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0007g0252 a0001c0001t0011g0147 a0001c0001t0011g0149 a0001c0001t0011g0259 a0001c0001t0011g0261 a0001c0001t0012g0183 a0001c0001t0012g0201 a0001c0001t0012g0212 a0001c0001t0012g0246 a0001c0001t0026g0322 a0001c0001t0026g0323 a0001c0001t0028g0178 a0001c0001t0028g0211 a0001c0001t0029g0175 a0001c0001t0029g0251 a0001c0001t0032g0192 a0001c0001t0034g0217 a0001c0001t0048g0220 a0001c0001t0049g0152 a0001c0001t0060g0204 a0001c0001t0061g0214 a0001c0001t0062g0242 a0001c0001t0063g0226 a0001c0001t0067g0016 a0001c0006t0035g0245 a0004c0005t0011g0250	96	330	0.2909	30	c.-7- others(45): Show c.-7-7785_-7-7784insCTATATCTATATATCTATATATCTATATAT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202836818	T T	TATATAGA others(23): Show TATATAGATATAGATATATATAGATATATAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp2 HG01175.hp1 HG00099.hp1 HG01071.hp2 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0263 a0001c0001t0001g0299 a0001c0001t0001g0153 a0001c0001t0001g0263 a0001c0001t0001g0299	3	330	0.0091	30	c.-7- others(45): Show c.-7-7803_-7-7802insCTATATATCTATATATATCTATATCTATAT	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar
ICA1L_chr2_202768176_202876766	202847703	A A	ATATATAG others(23): Show ATATATAGATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18968.hp2 NA18971.hp2 others(2): Show NA18951.hp2 NA18968.hp2 NA18971.hp2 NA19010.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0075 a0001c0001t0002 a0001c0001t0003 a0001c0001t0075	a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 others(2): Show a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0003g0137 a0001c0001t0075g0141	5	330	0.0152	30	c.-7- others(47): Show c.-7-18688_-7-18687insCATATATATATATATATATATATCTATA TA	ICA1L	ENSG00000163596.17	transcript	ENST00000358299.7	protein_coding	1/12			chr2	TogoVar

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