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
SPRY3_chrX_155607586_155787459	155659104	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0166 a0001c0001t0034g0166	1	231	0.0043	20	c.-28 others(41): Show c.-282+46492_-282+46511dupCTTTCTTTCTTTCTTTCTTT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155716981	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0132 a0001c0001t0043g0132	1	231	0.0043	20	c.-28 others(41): Show c.-281-50969_-281-50950dupTATATATATATATATATATA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	G G	GAAATAAA others(13): Show GAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0146 a0001c0001t0146	a0001c0001t0146g0184 a0001c0001t0146g0184	1	231	0.0043	20	c.-28 others(41): Show c.-281-15995_-281-15976dupATAAAATAAAATAAAATAAA	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767720	A A	AAGAGGAG others(13): Show AAGAGGAGGAGGAGGAGAGAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0223 a0001c0001t0060g0223	1	231	0.0043	20	c.-28 others(37): Show c.-281-239_-281-220dupAGGAGGAGGAGGAGAGAGAG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155773307	G G	GTTATATA others(13): Show GTTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0137 a0001c0001t0114g0137	1	231	0.0043	20	c.-10 others(37): Show c.-106-459_-106-458insTTATATATATATATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	2/2			chrX	TogoVar
SPRY4_chr5_142305430_142330021	142311935	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 NA19082.hp2 HG02451.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0080 a0001c0001t0056 a0001c0001t0080	a0001c0001t0056g0077 a0001c0001t0080g0132 a0001c0001t0056g0077 a0001c0001t0080g0132	2	378	0.0053	20	c.22 others(31): Show c.2254_*2273dupACACACACACACACACACAC	SPRY4	ENSG00000187678.10	transcript	ENST00000434127.3	protein_coding	2/2	2273		chr5	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CCTTTTTT others(13): Show CCTTTTTTTTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp2 HG02922.hp2 others(5): Show HG01243.hp2 HG02717.hp2 HG02922.hp2 HG03130.hp1 HG03486.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0024 a0001c0001t0049 a0001c0001t0005 a0001c0001t0024 a0001c0001t0049	a0001c0001t0005g0101 a0001c0001t0005g0108 a0001c0001t0005g0146 others(5): Show a0001c0001t0005g0101 a0001c0001t0005g0108 a0001c0001t0005g0146 a0001c0001t0005g0218 a0001c0001t0005g0227 a0001c0001t0005g0232 a0001c0001t0024g0119 a0001c0001t0049g0202	8	370	0.0216	20	c.694 others(37): Show c.694+4571_694+4572insCTTTTTTTTTTTTCTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2			chr1	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CCTTTTTT others(13): Show CCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00558.hp1 others(64): Show HG00280.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG03540.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18959.hp1 NA18970.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18995.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp2 NA19064.hp1 NA19082.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0051 a0001c0003t0004	a0001c0001t0001g0042 a0001c0001t0002g0243 a0001c0001t0002g0303 others(64): Show a0001c0001t0001g0042 a0001c0001t0002g0243 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0359 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0134 a0001c0001t0003g0182 a0001c0001t0004g0207 a0001c0001t0004g0212 a0001c0001t0004g0237 a0001c0001t0004g0244 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0004g0264 a0001c0001t0004g0269 a0001c0001t0004g0288 a0001c0001t0004g0290 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0306 a0001c0001t0004g0309 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0329 a0001c0001t0004g0338 a0001c0001t0004g0340 a0001c0001t0004g0342 a0001c0001t0004g0357 a0001c0001t0005g0106 a0001c0001t0006g0053 a0001c0001t0006g0056 a0001c0001t0006g0064 a0001c0001t0006g0066 a0001c0001t0006g0081 a0001c0001t0006g0090 a0001c0001t0006g0123 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0158 a0001c0001t0006g0162 a0001c0001t0006g0167 a0001c0001t0007g0075 a0001c0001t0008g0355 a0001c0001t0009g0287 a0001c0001t0009g0339 a0001c0001t0009g0365 a0001c0001t0009g0367 a0001c0001t0012g0017 a0001c0001t0015g0024 a0001c0001t0015g0034 a0001c0001t0015g0152 a0001c0001t0015g0161 a0001c0001t0017g0007 a0001c0001t0017g0148 a0001c0001t0051g0067 a0001c0003t0004g0356	67	370	0.1811	20	c.694 others(37): Show c.694+4571_694+4572insCTTTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2			chr1	TogoVar
SPSB1_chr1_9287894_9374532	9361156	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19081.hp1 HG01109.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0011 a0001c0005t0003 a0001c0001t0011 a0001c0005t0003	a0001c0001t0011g0224 a0001c0005t0003g0099 a0001c0001t0011g0224 a0001c0005t0003g0099	2	370	0.0054	20	c.694 others(37): Show c.694+4579_694+4598dupTTTTTTTTTTTTTTTTTTTT	SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141075118	C C	CAATGCAG others(13): Show CAATGCAGTTTCTGAGTCCAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18972.hp1 NA18977.hp1 NA18959.hp2 NA18972.hp1 NA18977.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0001c0003t0002 a0001c0003t0004 a0001c0003t0016	a0001c0003t0002g0023 a0001c0003t0004g0022 a0001c0003t0016g0204 a0001c0003t0002g0023 a0001c0003t0004g0022 a0001c0003t0016g0204	3	254	0.0118	20	c.694 others(37): Show c.694+8338_694+8339insATAATGCAGTTTCTGAGTCC	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141075118	C C	CAATGCAG others(13): Show CAATGCAGTTTCTGAGTCCGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00639.hp1 others(128): Show HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03927.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18957.hp2 NA18968.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(49): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0062 a0001c0002t0001 a0001c0002t0007 a0001c0002t0008 a0001c0002t0022 a0001c0002t0026 a0001c0002t0036 a0001c0002t0052 a0001c0002t0058 a0001c0003t0016 a0001c0003t0017 a0001c0003t0018 a0001c0005t0042 a0002c0004t0045 a0002c0004t0046	a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 others(123): Show a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0004g0038 a0001c0001t0004g0141 a0001c0001t0004g0152 a0001c0001t0004g0168 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0017 a0001c0001t0006g0158 a0001c0001t0006g0191 a0001c0001t0009g0147 a0001c0001t0009g0148 a0001c0001t0009g0151 a0001c0001t0009g0154 a0001c0001t0009g0200 a0001c0001t0009g0201 a0001c0001t0010g0007 a0001c0001t0010g0159 a0001c0001t0010g0166 a0001c0001t0010g0171 a0001c0001t0010g0172 a0001c0001t0010g0209 a0001c0001t0011g0050 a0001c0001t0011g0197 a0001c0001t0011g0198 a0001c0001t0013g0006 a0001c0001t0013g0140 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0015g0167 a0001c0001t0015g0178 a0001c0001t0015g0188 a0001c0001t0015g0189 a0001c0001t0016g0183 a0001c0001t0016g0207 a0001c0001t0017g0157 a0001c0001t0017g0169 a0001c0001t0018g0001 a0001c0001t0019g0012 a0001c0001t0019g0056 a0001c0001t0020g0145 a0001c0001t0020g0155 a0001c0001t0020g0156 a0001c0001t0023g0009 a0001c0001t0024g0026 a0001c0001t0024g0027 a0001c0001t0025g0144 a0001c0001t0025g0146 a0001c0001t0026g0222 a0001c0001t0027g0235 a0001c0001t0027g0237 a0001c0001t0028g0018 a0001c0001t0028g0048 a0001c0001t0031g0244 a0001c0001t0034g0217 a0001c0001t0035g0216 a0001c0001t0037g0153 a0001c0001t0038g0025 a0001c0001t0039g0221 a0001c0001t0040g0170 a0001c0001t0041g0028 a0001c0001t0043g0234 a0001c0001t0044g0231 a0001c0001t0047g0236 a0001c0001t0049g0230 a0001c0001t0050g0232 a0001c0001t0051g0233 a0001c0001t0054g0173 a0001c0001t0055g0203 a0001c0001t0056g0176 a0001c0001t0057g0177 a0001c0001t0062g0243 a0001c0002t0001g0132 a0001c0002t0007g0206 a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0226 a0001c0002t0008g0227 a0001c0002t0008g0228 a0001c0002t0008g0229 a0001c0002t0022g0127 a0001c0002t0026g0142 a0001c0002t0036g0143 a0001c0002t0052g0225 a0001c0002t0058g0054 a0001c0003t0016g0021 a0001c0003t0017g0219 a0001c0003t0018g0220 a0001c0005t0042g0245 a0002c0004t0045g0240 a0002c0004t0046g0239	131	254	0.5158	20	c.694 others(37): Show c.694+8322_694+8341dupATGCAGTTTCTGAGTCCGTA	SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	370	0.0027	20	c.258 others(39): Show c.2587+1672_2587+1691dupAAAAAAAAAAAAAAAAAAAA	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128561662	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02258.hp2 HG02647.hp1 others(6): Show HG01981.hp2 HG02258.hp2 HG02647.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0029 a0001c0001 a0001c0029	a0001c0001t0001 a0001c0029t0001 a0001c0001t0001 a0001c0029t0001	a0001c0001t0001g0038 a0001c0001t0001g0092 a0001c0001t0001g0093 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0029t0001g0159	9	312	0.0289	20	c.-3- others(35): Show c.-3-5069_-3-5050dupAAAAAAAAAAAAAAAAAAAA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128562992	G G	GTATGTAT others(13): Show GTATGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0015	1	312	0.0032	20	c.-3- others(35): Show c.-3-3743_-3-3742insGTATATATATATATATATAT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0275 a0002c0004t0002g0275	1	312	0.0032	20	c.363 others(37): Show c.363+1434_363+1435insATATATATTTTTTTTTTTTT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54465637	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA19074.hp2 HG03688.hp1 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0024 a0001c0002 a0007c0024	a0001c0002t0001 a0007c0024t0051 a0001c0002t0001 a0007c0024t0051	a0001c0002t0001g0009 a0007c0024t0051g0078 a0001c0002t0001g0009 a0007c0024t0051g0078	2	370	0.0054	20	c.-48 others(37): Show c.-48+9119_-48+9120insATATATATATATATATATAT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTCTTTTT others(13): Show CTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp2 HG01168.hp1 others(17): Show HG00323.hp1 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01258.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG02647.hp2 HG02895.hp1 HG02965.hp1 HG03490.hp1 HG03927.hp1 HG04184.hp1 NA18979.hp1 NA19001.hp2 NA19062.hp1 NA19066.hp2 NA19088.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 others(4): Show a0001c0001t0004 a0001c0001t0014 a0001c0001t0018 a0001c0003t0003 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010	a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0130 others(17): Show a0001c0001t0004g0091 a0001c0001t0004g0093 a0001c0001t0004g0130 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0014g0097 a0001c0001t0018g0127 a0001c0003t0003g0261 a0001c0004t0004g0069 a0001c0004t0004g0072 a0001c0004t0004g0096 a0001c0004t0004g0098 a0001c0004t0004g0131 a0001c0004t0004g0166 a0001c0004t0004g0265 a0001c0004t0004g0266 a0001c0004t0004g0317 a0001c0004t0007g0057 a0001c0004t0007g0110 a0001c0004t0010g0175	20	370	0.0541	20	c.-48 others(39): Show c.-48+31315_-48+31316insCTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54487832	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp2 HG00735.hp2 others(25): Show HG00558.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01175.hp2 HG01496.hp1 HG01978.hp1 HG02027.hp1 HG02273.hp1 HG02300.hp2 HG03831.hp2 HG03927.hp2 HG04184.hp2 NA18612.hp2 NA18945.hp1 NA18962.hp2 NA18978.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18998.hp2 NA19010.hp1 NA19081.hp2 NA19082.hp2 NA19090.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0010 a0002c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0022 a0001c0002t0001 a0001c0002t0006 a0001c0002t0029 a0001c0004t0004 a0001c0005t0003 a0001c0010t0017 a0002c0006t0003	a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0035 others(25): Show a0001c0001t0002g0007 a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0002g0167 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0217 a0001c0001t0002g0224 a0001c0001t0002g0239 a0001c0001t0002g0350 a0001c0001t0005g0106 a0001c0001t0005g0126 a0001c0001t0005g0203 a0001c0001t0005g0342 a0001c0001t0005g0343 a0001c0001t0005g0345 a0001c0001t0007g0347 a0001c0001t0022g0164 a0001c0002t0001g0204 a0001c0002t0006g0089 a0001c0002t0029g0339 a0001c0004t0004g0202 a0001c0004t0004g0209 a0001c0004t0004g0318 a0001c0005t0003g0005 a0001c0010t0017g0162 a0001c0010t0017g0198 a0002c0006t0003g0141	28	370	0.0757	20	c.-48 others(39): Show c.-48+31329_-48+31330insTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522655	A A	AGAGGAGA others(13): Show AGAGGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03831.hp1 HG01884.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0032 a0001c0003t0003 a0001c0003t0032	a0001c0003t0003g0262 a0001c0003t0032g0321 a0001c0003t0003g0262 a0001c0003t0032g0321	2	370	0.0054	20	c.-47 others(37): Show c.-47-3715_-47-3714insGGAGAGAGAGAGAGAGAGGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54581577	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03492.hp2 HG01106.hp2 HG03492.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0280 a0001c0009t0007g0286 a0001c0009t0007g0280 a0001c0009t0007g0286	2	370	0.0054	20	c.149 others(39): Show c.149-17511_149-17492dupTTTTTTTTTTTTTTTTTTTT	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN4_chr19_40462001_40581464	40479675	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0001 a0003c0019t0001	a0003c0019t0001g0030 a0003c0019t0001g0030	1	234	0.0043	20	c.169 others(37): Show c.169+6894_169+6913dupATATATATATATATATATAT	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN4_chr19_40462001_40581464	40505700	G G	GAGGAAGG others(13): Show GAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19010.hp1 HG03486.hp2 NA19010.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0077 a0001c0008t0001g0151 a0001c0008t0001g0077 a0001c0008t0001g0151	2	234	0.0086	20	c.166 others(37): Show c.1666-501_1666-482dupGAAGGAAGGAAGGAAGGAAG	SPTBN4	ENSG00000160460.17	transcript	ENST00000598249.6	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02129.hp1 HG03239.hp2 others(6): Show HG01891.hp2 HG02129.hp1 HG03239.hp2 HG04184.hp1 NA18951.hp1 NA18978.hp1 NA18979.hp2 NA18998.hp1 NA18999.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0014 a0002c0003 a0004c0078 others(1): Show a0001c0014 a0002c0003 a0004c0078 a0005c0010	a0001c0014t0004 a0002c0003t0028 a0004c0078t0004 others(1): Show a0001c0014t0004 a0002c0003t0028 a0004c0078t0004 a0005c0010t0004	a0001c0014t0004g0141 a0002c0003t0028g0019 a0004c0078t0004g0086 others(6): Show a0001c0014t0004g0141 a0002c0003t0028g0019 a0004c0078t0004g0086 a0005c0010t0004g0046 a0005c0010t0004g0205 a0005c0010t0004g0206 a0005c0010t0004g0218 a0005c0010t0004g0232 a0005c0010t0004g0236	9	268	0.0336	20	c.660 others(39): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTT	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765017	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03195.hp2 HG02258.hp1 HG03195.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0006c0037 a0002c0003 a0006c0037	a0002c0003t0008 a0006c0037t0007 a0002c0003t0008 a0006c0037t0007	a0002c0003t0008g0100 a0006c0037t0007g0262 a0002c0003t0008g0100 a0006c0037t0007g0262	2	268	0.0075	20	c.634 others(39): Show c.6345+1708_6345+1709insACACACACACACACACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765021	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0261 a0001c0001t0005g0261	1	268	0.0037	20	c.634 others(39): Show c.6345+1704_6345+1705insGCACACACACACACACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64765025	C C	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp2 HG02109.hp1 HG03471.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0011 a0006c0016t0021 a0006c0016t0011 a0006c0016t0021	a0006c0016t0011g0053 a0006c0016t0021g0056 a0006c0016t0011g0053 a0006c0016t0021g0056	2	268	0.0075	20	c.634 others(39): Show c.6345+1700_6345+1701insACACACACACACACACACAC	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	32/35			chr14	TogoVar
SPTB_chr14_64741283_64884907	64822374	T T	TCTCTCTC others(13): Show TCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0013 a0002c0003t0013	a0002c0003t0013g0112 a0002c0003t0013g0112	1	268	0.0037	20	c.148 others(35): Show c.148+572_148+573insTGTGTGTGTGTGTGAGAGAG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77534588	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01106.hp2 others(23): Show HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG02109.hp1 HG02148.hp2 HG02293.hp2 HG02451.hp1 HG02602.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02965.hp1 HG03579.hp1 HG03834.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19000.hp2 NA19087.hp1 NA19087.hp2 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0007 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0039 a0001c0004t0004 a0001c0006t0018 a0002c0007t0001 a0003c0009t0042	a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052 others(23): Show a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0116 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0193 a0001c0001t0002g0071 a0001c0001t0003g0065 a0001c0001t0003g0221 a0001c0001t0003g0226 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0223 a0001c0001t0021g0003 a0001c0001t0039g0101 a0001c0004t0004g0011 a0001c0004t0004g0142 a0001c0004t0004g0143 a0001c0004t0004g0190 a0001c0006t0018g0075 a0002c0007t0001g0081 a0002c0007t0001g0156 a0003c0009t0042g0129	26	246	0.1057	20	c.130 others(41): Show c.1304-13008_1304-13007insGTGTGTGTGTGTGTGTGTGT	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATGTAT others(13): Show GTATGTATGTATGTATGTATT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02080.hp1 HG02622.hp2 others(4): Show HG01358.hp1 HG02080.hp1 HG02622.hp2 HG02630.hp2 HG02976.hp2 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0025 a0001c0002t0003 a0001c0003t0023 a0001c0004t0004	a0001c0001t0001g0153 a0001c0001t0005g0178 a0001c0001t0025g0020 others(4): Show a0001c0001t0001g0153 a0001c0001t0005g0178 a0001c0001t0025g0020 a0001c0002t0003g0062 a0001c0003t0023g0133 a0001c0004t0004g0011 a0001c0004t0004g0143	7	246	0.0285	20	c.327 others(37): Show c.327+5455_327+5456insAATACATACATACATACATA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77591730	G G	GTATGTAT others(13): Show GTATGTATGTATGTATTTATT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01099.hp1 others(13): Show HG00621.hp1 HG00642.hp1 HG01099.hp1 HG01123.hp1 HG01256.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG02080.hp2 HG02083.hp1 HG02698.hp2 HG03017.hp2 HG04115.hp2 HG04204.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0031 a0001c0010t0033	a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0031 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0073 a0001c0001t0001g0102 a0001c0001t0005g0045 a0001c0001t0031g0043 a0001c0010t0033g0049	16	246	0.0650	20	c.327 others(37): Show c.327+5455_327+5456insAATAAATACATACATACATA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	2/11			chr14	TogoVar
SPTLC3_chr20_13003972_13174103	13038045	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp1 HG02809.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0011 a0001c0001t0001 a0001c0003t0011	a0001c0001t0001g0158 a0001c0003t0011g0162 a0001c0001t0001g0158 a0001c0003t0011g0162	2	292	0.0069	20	c.118 others(39): Show c.118-10885_118-10884insTATATATATATATATATATA	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSA_chr14_34427788_34467240	34443134	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	344	0.0029	20	c.113 others(37): Show c.113-7850_113-7831dupACACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443171	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp1 NA18522.hp1 others(3): Show HG03041.hp2 HG03579.hp1 NA18522.hp1 NA18969.hp2 NA18994.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0001g0172 a0001c0001t0001g0177 others(3): Show a0001c0001t0001g0109 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0203 a0001c0001t0002g0034 a0001c0001t0002g0076	6	344	0.0174	20	c.113 others(37): Show c.113-7868_113-7867insAACACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443171	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18991.hp2 NA19004.hp2 others(1): Show NA18967.hp2 NA18991.hp2 NA19004.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0055 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0041 a0001c0001t0002g0055 a0001c0001t0010g0036	4	344	0.0116	20	c.113 others(37): Show c.113-7868_113-7867insAAAACACACACACACACACA	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03471.hp1 HG03654.hp1 others(2): Show HG01934.hp2 HG03471.hp1 HG03654.hp1 HG03669.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0184 a0001c0001t0001g0223 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0184 a0001c0001t0001g0223 a0001c0001t0001g0314 a0001c0001t0001g0315	5	344	0.0145	20	c.113 others(37): Show c.113-8222_113-8203dupACACACACACACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369314	C C	CTTTCTTT others(13): Show CTTTCTTTCTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG02145.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0259 a0001c0001t0007g0076 a0001c0001t0003g0259 a0001c0001t0007g0076	2	412	0.0049	20	c.-12 others(39): Show c.-126+2120_-126+2121insAAGAAAGAAAGAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18610686	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG03453.hp2 others(1): Show HG02895.hp2 HG02896.hp2 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0254 others(1): Show a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0254 a0001c0001t0003g0255	4	444	0.0090	20	c.196 others(37): Show c.1965-733_1965-732insGTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	5/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18621323	C C	CAGAAAAG others(13): Show CAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01255.hp1 HG01433.hp1 others(35): Show HG00642.hp1 HG01255.hp1 HG01433.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG02040.hp1 HG02080.hp2 HG02148.hp1 HG02280.hp1 HG02293.hp2 HG02602.hp1 HG02809.hp1 HG03130.hp1 HG03654.hp2 HG03688.hp2 HG03942.hp1 HG04228.hp2 NA18612.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18959.hp2 NA18961.hp2 NA18969.hp1 NA18971.hp2 NA18978.hp2 NA18983.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA19054.hp1 NA19055.hp1 NA19066.hp2 NA19068.hp2	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0007 a0008	a0001c0001 a0003c0004 a0003c0011 others(3): Show a0001c0001 a0003c0004 a0003c0011 a0005c0009 a0007c0014 a0008c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0003c0004t0005 a0003c0011t0005 a0005c0009t0005 a0005c0009t0021 a0007c0014t0001 a0008c0013t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0293 others(32): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0334 a0001c0001t0001g0341 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0356 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0367 a0001c0001t0006g0038 a0001c0001t0006g0296 a0001c0001t0006g0300 a0001c0001t0006g0306 a0001c0001t0006g0309 a0001c0001t0010g0291 a0001c0001t0018g0298 a0001c0001t0028g0297 a0003c0004t0005g0148 a0003c0011t0005g0151 a0005c0009t0005g0116 a0005c0009t0021g0117 a0007c0014t0001g0330 a0008c0013t0001g0366	38	444	0.0856	20	c.61- others(35): Show c.61-4354_61-4335dupTTTCTTTTCTTTTCTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18621374	A A	AGAAAAGA others(13): Show AGAAAAGAAAAGAAAAGAAAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0143 a0003c0004t0005g0143	1	444	0.0023	20	c.61- others(35): Show c.61-4386_61-4385insGTTTCTTTTCTTTTCTTTTC	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01952.hp2 HG01993.hp1 others(28): Show HG00642.hp1 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02602.hp2 HG02683.hp2 HG03239.hp1 NA18612.hp1 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18995.hp2 NA19000.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19066.hp2 NA19068.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0015 a0002c0003 others(1): Show a0001c0001 a0001c0015 a0002c0003 a0007c0014	a0001c0001t0001 a0001c0001t0006 a0001c0015t0019 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0015t0019 a0002c0003t0001 a0007c0014t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0299 others(25): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0337 a0001c0001t0001g0343 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0358 a0001c0001t0006g0038 a0001c0001t0006g0300 a0001c0001t0006g0304 a0001c0001t0006g0309 a0001c0015t0019g0342 a0002c0003t0001g0051 a0007c0014t0001g0330	31	444	0.0698	20	c.61- others(35): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQLE_chr8_124993505_125027283	125025829	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp2 HG02735.hp2 HG02055.hp1 HG02559.hp2 HG02735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0017 a0001c0003t0001g0056 a0001c0003t0001g0058 a0001c0003t0001g0017 a0001c0003t0001g0056 a0001c0003t0001g0058	3	378	0.0079	20	c.38 others(31): Show c.3884_*3885insACACACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3547		chr8	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02071.hp2 HG02080.hp2 others(15): Show HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02145.hp2 HG02572.hp1 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02897.hp2 HG02976.hp2 HG04228.hp1 NA18961.hp1 NA18965.hp1 NA18989.hp1 NA18994.hp2 NA19002.hp2 NA19030.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0015 a0001c0003t0001 a0001c0003t0019	a0001c0001t0001g0068 a0001c0001t0004g0031 a0001c0001t0004g0085 others(12): Show a0001c0001t0001g0068 a0001c0001t0004g0031 a0001c0001t0004g0085 a0001c0002t0003g0007 a0001c0002t0003g0014 a0001c0002t0003g0065 a0001c0002t0003g0072 a0001c0002t0003g0074 a0001c0002t0003g0108 a0001c0002t0015g0073 a0001c0003t0001g0012 a0001c0003t0001g0057 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0019g0122	18	378	0.0476	20	c.38 others(31): Show c.3888_*3889insACACACACACACACACACAC	SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding		3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(13): Show CTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG02559.hp2 others(5): Show HG01257.hp2 HG01258.hp1 HG02559.hp2 HG03098.hp2 HG03195.hp1 HG03453.hp1 HG03927.hp2 NA21309.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0002c0004 a0009c0014	a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0013t0001 a0002c0002t0001 a0002c0004t0001 a0009c0014t0001	a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0113 others(5): Show a0001c0001t0001g0100 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0013t0001g0187 a0002c0002t0001g0243 a0002c0004t0001g0247 a0002c0004t0001g0249 a0009c0014t0001g0185	8	340	0.0235	20	c.-92 others(29): Show c.-928_-927insTATATATATATATATATATA	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding		830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45644785	G G	GAGCTGCC others(13): Show GAGCTGCCTATAGTTGTAGTT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	340	0.0029	20	c.-18 others(37): Show c.-18+9678_-18+9697dupAGCTGCCTATAGTTGTAGTT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45666789	T T	TCTCTCCC others(13): Show TCTCTCCCCTCCCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00735.hp2 others(37): Show HG00099.hp2 HG00323.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01517.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18944.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0004c0006 others(1): Show a0001c0001 a0001c0003 a0004c0006 a0007c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0004c0006t0001 a0004c0006t0004 a0007c0011t0004	a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0047 others(36): Show a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0225 a0001c0001t0001g0312 a0001c0001t0003g0315 a0001c0001t0004g0324 a0001c0003t0001g0079 a0001c0003t0001g0129 a0001c0003t0001g0139 a0001c0003t0001g0150 a0001c0003t0001g0163 a0001c0003t0001g0172 a0001c0003t0001g0258 a0001c0003t0001g0267 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0282 a0004c0006t0001g0311 a0004c0006t0004g0319 a0004c0006t0004g0323 a0007c0011t0004g0325	40	340	0.1177	20	c.406 others(37): Show c.406-3102_406-3083dupTCTCCTCTCCCCTCCCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45666836	C C	CCTCCCCT others(13): Show CCTCCCCTCCCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp2 HG02723.hp2 others(3): Show HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0320 others(3): Show a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0013t0001g0187	6	340	0.0177	20	c.406 others(37): Show c.406-3077_406-3058dupTCTCCTCTCCCCTCCCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45666861	C C	CCTCCCCT others(13): Show CCTCCCCTCCCCTCCTCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(47): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG01256.hp1 HG01496.hp1 HG01952.hp2 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG03654.hp2 HG03704.hp2 HG04115.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp2 NA18994.hp1 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19066.hp2 NA19083.hp1 NA19085.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0011	a0001c0001 a0001c0003 a0003c0005 others(2): Show a0001c0001 a0001c0003 a0003c0005 a0008c0012 a0011c0010	a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0003c0005t0001 a0008c0012t0001 a0011c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0027 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0158 a0001c0001t0001g0179 a0001c0001t0001g0193 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0286 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0297 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0003t0001g0191 a0003c0005t0001g0023 a0003c0005t0001g0290 a0003c0005t0001g0306 a0003c0005t0001g0307 a0008c0012t0001g0253 a0011c0010t0001g0283	50	340	0.1471	20	c.406 others(37): Show c.406-3053_406-3052insTCTCCTCTCCCCTCCCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45666861	C C	CCTCCCCT others(13): Show CCTCCCCTCCCCTCCTCTCGT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0177 a0001c0001t0001g0178	2	340	0.0059	20	c.406 others(37): Show c.406-3053_406-3052insTCTCGTCTCCCCTCCCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQOR_chr15_45630029_45696281	45667011	C C	CCCCTCCC others(13): Show CCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	340	0.0029	20	c.406 others(37): Show c.406-2916_406-2897dupCCCTCCCTCCCTCCCTCCCT	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179843059	A A	AAGGAAGG others(13): Show AAGGAAGGAAGGAAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	462	0.0022	20	c.64 others(31): Show c.6466_*6467insAGGAAGGAAGGAAGGGAGGG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding		4982		chr5	TogoVar

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