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
TYW1_chr7_66991833_67244514	67135302	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0005 a0004c0006t0005	a0004c0006t0005g0364 a0004c0006t0005g0364	1	250	0.0040	10	c.169 others(31): Show c.1698+17695_1698+17704dupTTTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67137049	C C	CTGATCTC others(3): Show CTGATCTCAGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01069.hp1 others(71): Show HG00323.hp1 HG00642.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18946.hp2 NA18957.hp1 NA18970.hp1 NA18975.hp1 NA18981.hp2 NA18985.hp1 NA18990.hp1 NA18994.hp2 NA19030.hp1 NA19043.hp2 NA19058.hp1 NA19077.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0010 a0011	a0001c0001 a0001c0021 a0002c0003 others(7): Show a0001c0001 a0001c0021 a0002c0003 a0002c0004 a0004c0006 a0004c0011 a0005c0010 a0007c0012 a0010c0020 a0011c0009	a0001c0001t0001 a0001c0021t0001 a0002c0003t0002 others(10): Show a0001c0001t0001 a0001c0021t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0013 a0002c0004t0002 a0002c0004t0004 a0004c0006t0005 a0004c0011t0005 a0005c0010t0005 a0007c0012t0002 a0010c0020t0008 a0011c0009t0004	a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 others(71): Show a0001c0001t0001g0125 a0001c0001t0001g0208 a0001c0001t0001g0233 a0001c0021t0001g0209 a0002c0003t0002g0123 a0002c0003t0002g0124 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0214 a0002c0003t0002g0215 a0002c0003t0002g0220 a0002c0003t0002g0221 a0002c0003t0002g0223 a0002c0003t0002g0224 a0002c0003t0002g0225 a0002c0003t0002g0226 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0242 a0002c0003t0002g0243 a0002c0003t0002g0244 a0002c0003t0002g0245 a0002c0003t0002g0246 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0251 a0002c0003t0002g0252 a0002c0003t0002g0254 a0002c0003t0002g0255 a0002c0003t0002g0363 a0002c0003t0004g0172 a0002c0003t0004g0205 a0002c0003t0004g0206 a0002c0003t0004g0207 a0002c0003t0013g0219 a0002c0004t0002g0289 a0002c0004t0002g0358 a0002c0004t0004g0282 a0002c0004t0004g0287 a0002c0004t0004g0288 a0002c0004t0004g0290 a0002c0004t0004g0291 a0002c0004t0004g0292 a0002c0004t0004g0293 a0002c0004t0004g0295 a0002c0004t0004g0296 a0002c0004t0004g0297 a0002c0004t0004g0298 a0002c0004t0004g0299 a0002c0004t0004g0300 a0002c0004t0004g0355 a0002c0004t0004g0356 a0002c0004t0004g0357 a0002c0004t0004g0360 a0002c0004t0004g0361 a0002c0004t0004g0362 a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0222 a0004c0006t0005g0236 a0004c0006t0005g0250 a0004c0006t0005g0364 a0004c0011t0005g0354 a0005c0010t0005g0359 a0007c0012t0002g0227 a0010c0020t0008g0213 a0011c0009t0004g0294	74	362	0.2044	10	c.169 others(31): Show c.1698+19436_1698+19437insTCAGGTGATC	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67139728	G G	GGTGTGTG others(3): Show GGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	86	0.0116	10	c.169 others(31): Show c.1698+22145_1698+22154dupGTGTGTGTGT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67159783	A A	AATTTTAT others(3): Show AATTTTATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00597.hp1 others(139): Show HG00323.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp1 NA18994.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19043.hp2 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0010	a0001c0001 a0001c0002 a0001c0015 others(8): Show a0001c0001 a0001c0002 a0001c0015 a0002c0003 a0002c0007 a0004c0006 a0004c0011 a0005c0010 a0005c0016 a0006c0019 a0010c0020	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0015t0001 a0002c0003t0002 a0002c0007t0002 a0004c0006t0005 a0004c0011t0005 a0005c0010t0005 a0005c0016t0005 a0006c0019t0006 a0010c0020t0008	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 others(139): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0231 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0006g0262 a0001c0001t0007g0039 a0001c0001t0007g0074 a0001c0001t0010g0162 a0001c0001t0011g0265 a0001c0002t0001g0001 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0001g0310 a0001c0002t0001g0339 a0001c0015t0001g0147 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0007t0002g0232 a0002c0007t0002g0238 a0004c0006t0005g0008 a0004c0006t0005g0107 a0004c0006t0005g0108 a0004c0006t0005g0222 a0004c0006t0005g0236 a0004c0006t0005g0250 a0004c0006t0005g0364 a0004c0011t0005g0354 a0005c0010t0005g0359 a0005c0016t0005g0143 a0006c0019t0006g0263 a0010c0020t0008g0213	142	361	0.3934	10	c.169 others(31): Show c.1699-23333_1699-23324dupTATTTTATTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67180424	A A	ATATATAT others(3): Show ATATATATATT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19066.hp2 NA18982.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0277 a0001c0001t0001g0278	2	280	0.0071	10	c.169 others(29): Show c.1699-2702_1699-2701insTATATATATT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	13/15			chr7	TogoVar
TYW1_chr7_66991833_67244514	67207562	C C	CTGTACTT others(3): Show CTGTACTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	362	0.0028	10	c.197 others(31): Show c.1977+12228_1977+12237dupTACTTTTTTG	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67207681	C C	CTTCTTTT others(3): Show CTTCTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03516.hp1 NA19043.hp1 HG00639.hp2 HG03516.hp1 NA19043.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0012 a0003c0005t0002g0202 a0003c0005t0002g0203 a0003c0005t0002g0012 a0003c0005t0002g0202 a0003c0005t0002g0203	3	130	0.0231	10	c.197 others(31): Show c.1977+12346_1977+12347insCTTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67211150	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp2 HG03490.hp1 others(1): Show HG01106.hp2 HG01361.hp2 HG03490.hp1 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0004 a0002c0004t0002 a0002c0004t0004 a0002c0003t0004 a0002c0004t0002 a0002c0004t0004	a0002c0003t0004g0207 a0002c0004t0002g0308 a0002c0004t0004g0287 others(1): Show a0002c0003t0004g0207 a0002c0004t0002g0308 a0002c0004t0004g0287 a0002c0004t0004g0292	4	87	0.0460	10	c.197 others(31): Show c.1977+15845_1977+15854dupGTGTGTGTGT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67230652	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp2 HG02717.hp2 others(3): Show HG01243.hp1 HG02486.hp2 HG02717.hp2 HG02738.hp2 HG02886.hp1 NA18906.hp1	a0002 a0007 a0002 a0007	a0002c0003 a0002c0004 a0007c0012 a0002c0003 a0002c0004 a0007c0012	a0002c0003t0002 a0002c0004t0002 a0007c0012t0002 a0002c0003t0002 a0002c0004t0002 a0007c0012t0002	a0002c0003t0002g0124 a0002c0003t0002g0234 a0002c0003t0002g0235 others(3): Show a0002c0003t0002g0124 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0252 a0002c0004t0002g0289 a0007c0012t0002g0227	6	199	0.0302	10	c.197 others(29): Show c.1978-7647_1978-7638dupTTTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67234348	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01358.hp2 HG02738.hp2 others(3): Show HG01175.hp1 HG01358.hp2 HG02738.hp2 HG03669.hp2 NA19058.hp1 NA19086.hp1	a0002 a0011 a0002 a0011	a0002c0003 a0002c0004 a0011c0009 a0002c0003 a0002c0004 a0011c0009	a0002c0003t0002 a0002c0004t0004 a0011c0009t0004 a0002c0003t0002 a0002c0004t0004 a0011c0009t0004	a0002c0003t0002g0124 a0002c0003t0002g0254 a0002c0004t0004g0288 others(3): Show a0002c0003t0002g0124 a0002c0003t0002g0254 a0002c0004t0004g0288 a0002c0004t0004g0299 a0002c0004t0004g0360 a0011c0009t0004g0294	6	275	0.0218	10	c.197 others(29): Show c.1978-3951_1978-3942dupAAAAAAAAAA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67235912	A A	AAAAGAAA others(3): Show AAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02486.hp2 others(9): Show HG01891.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02717.hp2 HG02896.hp2 HG02965.hp2 HG03209.hp2 HG03453.hp1 NA18906.hp1 NA18981.hp2 NA18994.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0002 a0002c0004t0004 a0002c0003t0002 a0002c0004t0002 a0002c0004t0004	a0002c0003t0002g0123 a0002c0003t0002g0230 a0002c0003t0002g0234 others(9): Show a0002c0003t0002g0123 a0002c0003t0002g0230 a0002c0003t0002g0234 a0002c0003t0002g0235 a0002c0003t0002g0240 a0002c0003t0002g0241 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0004t0002g0289 a0002c0004t0004g0296 a0002c0004t0004g0298	12	296	0.0405	10	c.197 others(29): Show c.1978-2393_1978-2392insGAAAAAGAAA	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
TYW1_chr7_66991833_67244514	67243603	C C	CGGGGGGG others(3): Show CGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0293 a0002c0004t0004g0293	1	126	0.0079	10	c.50 others(21): Show c.5074_*5075insGGGGGGGGGG	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding		4090		chr7	TogoVar
U2SURP_chr3_142996570_143065725	142996773	T T	TCACACAC others(3): Show TCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0358 a0001c0001t0014g0358	1	100	0.0100	10	c.-48 others(21): Show c.-4856_-4855insCACACACACA	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding		4796		chr3	TogoVar
U2SURP_chr3_142996570_143065725	143004573	A A	ACCCCCCC others(3): Show ACCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG03225.hp1 others(5): Show HG02055.hp1 HG02451.hp2 HG03225.hp1 HG03579.hp2 HG03831.hp2 NA18522.hp2 NA19009.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 others(5): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0230 a0001c0001t0022g0193	8	79	0.1013	10	c.45+ others(25): Show c.45+2903_45+2912dupCCCCCCCCCC	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
U2SURP_chr3_142996570_143065725	143044289	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00544.hp2 others(174): Show HG00140.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0010 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0002t0002 a0001c0002t0011 a0001c0005t0001 a0001c0008t0007 a0001c0010t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(163): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0233 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0023 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0007g0112 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0161 a0001c0001t0007g0186 a0001c0001t0008g0022 a0001c0001t0010g0177 a0001c0001t0010g0210 a0001c0001t0010g0236 a0001c0001t0019g0135 a0001c0001t0021g0034 a0001c0001t0022g0193 a0001c0001t0025g0074 a0001c0002t0002g0025 a0001c0002t0002g0055 a0001c0002t0002g0069 a0001c0002t0002g0084 a0001c0002t0002g0094 a0001c0002t0002g0104 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0011g0033 a0001c0005t0001g0011 a0001c0008t0007g0232 a0001c0010t0001g0225 a0005c0007t0001g0141	177	182	0.9725	10	c.254 others(29): Show c.2544+1021_2544+1030dupTTTTTTTTTT	U2SURP	ENSG00000163714.18	transcript	ENST00000473835.7	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
UACA_chr15_70649554_70768558	70700318	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0296 a0001c0003t0003g0296	1	264	0.0038	10	c.79- others(23): Show c.79-668_79-659dupGTGTGTGTGT	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70718324	A A	ATGTATGT others(3): Show ATGTATGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	17	0.0588	10	c.79- others(27): Show c.79-18665_79-18664insCACACATACA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70718324	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01168.hp2 HG01169.hp1 others(22): Show HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG02132.hp2 HG02135.hp2 HG02602.hp2 HG02818.hp1 HG03704.hp1 NA18946.hp2 NA18948.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18981.hp2 NA18999.hp1 NA19000.hp1 NA19011.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0006c0010	a0001c0001t0001 a0001c0001t0008 a0001c0001t0022 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0022 a0001c0002t0001 a0001c0004t0001 a0001c0004t0003 a0002c0005t0003 a0006c0010t0003	a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0120 others(22): Show a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0008g0016 a0001c0001t0008g0017 a0001c0001t0022g0280 a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0004t0001g0122 a0001c0004t0003g0266 a0001c0004t0003g0276 a0002c0005t0003g0287 a0006c0010t0003g0293 a0006c0010t0003g0294	25	41	0.6098	10	c.79- others(27): Show c.79-18674_79-18665dupCACACACACA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UACA_chr15_70649554_70768558	70745088	G G	GTTGGTAG others(3): Show GTTGGTAGGGT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	308	0.0032	10	c.78+ others(27): Show c.78+18241_78+18242insACCCTACCAA	UACA	ENSG00000137831.15	transcript	ENST00000322954.11	protein_coding	1/18			chr15	TogoVar
UAP1L1_chr9_137072517_137089538	137077397	T T	TGGGGCGG others(3): Show TGGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 NA19030.hp2 HG03704.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0004 a0002c0002t0001g0005	2	269	0.0074	10	c.-13 others(19): Show c.-136_-135insGGGGCGGGGC	UAP1L1	ENSG00000197355.11	transcript	ENST00000409858.8	protein_coding		119		chr9	TogoVar
UBA2_chr19_34423381_34476251	34456100	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	157	0.0064	10	c.124 others(29): Show c.1245+1549_1245+1550insTTTTTTTTTT	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBA2_chr19_34423381_34476251	34457179	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	90	0.0111	10	c.124 others(29): Show c.1246-1564_1246-1555dupTATATATATA	UBA2	ENSG00000126261.13	transcript	ENST00000246548.9	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
UBAC2_chr13_99195854_99391504	99216078	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	342	0.0029	10	c.31+ others(27): Show c.31+15140_31+15141insGTGTGTGTGT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99216834	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp2 NA18949.hp1 others(1): Show HG02145.hp2 HG02717.hp2 NA18949.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0286 a0001c0001t0002g0313 a0001c0001t0002g0314 others(1): Show a0001c0001t0001g0286 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0004g0299	4	202	0.0198	10	c.31+ others(27): Show c.31+15899_31+15908dupTTTTTTTTTT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232397	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01978.hp2 HG01433.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0130 a0001c0001t0005g0131	2	312	0.0064	10	c.32- others(25): Show c.32-6029_32-6028insTATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99232399	G G	GATATATA others(3): Show GATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	201	0.0050	10	c.32- others(25): Show c.32-6023_32-6022insTATATATATA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99237265	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02965.hp2 HG01884.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0279 a0001c0001t0001g0280	2	299	0.0067	10	c.32- others(25): Show c.32-1161_32-1160insCACACACACA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99237269	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02135.hp2 NA18980.hp2 HG00733.hp1 HG02135.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0062 a0001c0001t0001g0008 a0001c0001t0001g0040 a0001c0001t0001g0062	3	261	0.0115	10	c.32- others(25): Show c.32-1157_32-1156insCACACACACA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99237271	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00597.hp2 others(25): Show HG00099.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG01167.hp1 HG01358.hp1 HG01516.hp2 HG01517.hp1 HG02258.hp1 HG02300.hp2 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG04204.hp2 NA18954.hp1 NA18965.hp1 NA18969.hp1 NA18972.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp2 NA19054.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(25): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0002g0025	28	144	0.1944	10	c.32- others(25): Show c.32-1138_32-1129dupCACACACACA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99262710	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG03491.hp1 HG04184.hp1 others(4): Show HG01516.hp2 HG03491.hp1 HG04184.hp1 NA18956.hp2 NA18965.hp1 NA19005.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 others(4): Show a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0002g0233 a0001c0001t0002g0322	7	45	0.1556	10	c.389 others(29): Show c.389+18107_389+18116dupAAAAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99330458	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp1 HG02258.hp1 others(2): Show HG00673.hp2 HG02027.hp1 HG02258.hp1 NA18978.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0059 a0001c0001t0001g0259	5	20	0.2500	10	c.562 others(27): Show c.562-9853_562-9844dupAAAAAAAAAA	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99347319	G G	GCCCCCCC others(3): Show GCCCCCCCCCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	79	0.0127	10	c.807 others(27): Show c.807+6760_807+6769dupCCCCCCCCCC	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99368686	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0118	1	377	0.0027	10	c.927 others(25): Show c.927+781_927+782insTGTGTGTGTG	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99368688	A A	AGAGTGTG others(3): Show AGAGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00673.hp2 NA18986.hp2 others(1): Show HG00609.hp1 HG00673.hp2 NA18986.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0059 a0001c0001t0001g0065	4	59	0.0678	10	c.927 others(25): Show c.927+783_927+784insAGTGTGTGTG	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99368688	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01168.hp2 HG01257.hp2 others(16): Show HG00280.hp1 HG01168.hp2 HG01257.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp2 HG03927.hp1 NA18947.hp1 NA18954.hp1 NA18980.hp2 NA18983.hp2 NA18992.hp2 NA19077.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(16): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0081	19	74	0.2568	10	c.927 others(25): Show c.927+811_927+820dupGTGTGTGTGT	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UBAC2_chr13_99195854_99391504	99387368	G G	GACACACA others(3): Show GACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03710.hp1 NA18954.hp2 others(2): Show HG03516.hp1 HG03710.hp1 NA18954.hp2 NA18977.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0350 a0001c0001t0001g0359 others(2): Show a0001c0001t0001g0231 a0001c0001t0001g0350 a0001c0001t0001g0359 a0001c0001t0001g0374 a0001c0001t0001g0375	5	20	0.2500	10	c.20 others(21): Show c.2033_*2034insACACACACAC	UBAC2	ENSG00000134882.16	transcript	ENST00000403766.8	protein_coding		865		chr13	TogoVar
UBAP1_chr9_34174043_34257523	34181116	C C	CTTTCTTT others(3): Show CTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG02738.hp2 others(2): Show HG01081.hp2 HG01243.hp1 HG02738.hp2 NA19074.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0296 a0001c0001t0004g0307 a0001c0001t0004g0308 others(2): Show a0001c0001t0004g0296 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0309 a0001c0001t0004g0310	5	67	0.0746	10	c.-8+ others(25): Show c.-8+1879_-8+1880insCTTTTTTTTT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34181116	C C	CTTTTTTT others(3): Show CTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00642.hp1 others(36): Show HG00408.hp1 HG00438.hp1 HG00642.hp1 HG01257.hp1 HG01261.hp1 HG01891.hp1 HG01934.hp2 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02572.hp1 HG02647.hp1 HG02738.hp1 HG03098.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18940.hp2 NA18941.hp2 NA18947.hp1 NA18951.hp2 NA18962.hp2 NA18995.hp2 NA19002.hp2 NA19007.hp2 NA19077.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(36): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0005g0259	39	101	0.3861	10	c.-8+ others(25): Show c.-8+1884_-8+1893dupTTTTTTTTTT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34182677	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0017 a0003c0003t0001g0017	1	248	0.0040	10	c.-8+ others(25): Show c.-8+3440_-8+3441insCTCTCTCTCT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34182681	T T	TTCTCTCT others(3): Show TTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19077.hp2 HG03942.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0260 a0001c0001t0001g0105 a0001c0001t0001g0260	2	129	0.0155	10	c.-8+ others(25): Show c.-8+3443_-8+3452dupCTCTCTCTCT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34196898	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01978.hp2 HG02738.hp1 others(1): Show HG01516.hp2 HG01978.hp2 HG02738.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0002g0283 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0002g0283 a0001c0001t0002g0289	4	74	0.0541	10	c.-8+ others(27): Show c.-8+17688_-8+17697dupGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34202624	C C	CGTGTGTG others(3): Show CGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03579.hp2 NA18995.hp1 others(1): Show HG01515.hp1 HG03579.hp2 NA18995.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0002g0280 a0001c0001t0004g0333 a0001c0001t0005g0162 others(1): Show a0001c0001t0002g0280 a0001c0001t0004g0333 a0001c0001t0005g0162 a0001c0001t0006g0160	4	23	0.1739	10	c.-7- others(27): Show c.-7-18239_-7-18230dupGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34212392	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(48): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG00738.hp1 HG00738.hp2 HG01256.hp2 HG01258.hp2 HG01496.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp1 HG02257.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp2 HG02965.hp2 HG03834.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp1 NA18948.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18988.hp1 NA18995.hp1 NA19002.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19067.hp2 NA19080.hp1 NA19082.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0023 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0262 a0001c0001t0002g0221 a0001c0001t0003g0096 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0173 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0308 a0001c0001t0004g0333 a0001c0001t0008g0157	51	78	0.6538	10	c.-7- others(25): Show c.-7-8491_-7-8482dupACACACACAC	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34220111	C C	CCCCCTCC others(3): Show CCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01891.hp2 HG02165.hp2 others(10): Show HG00438.hp1 HG01891.hp2 HG02165.hp2 HG02257.hp2 HG02572.hp1 HG02683.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG03130.hp2 HG03688.hp2 HG04204.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0107 others(10): Show a0001c0001t0001g0092 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0004g0296 a0001c0001t0004g0328 a0001c0001t0006g0338 a0001c0001t0006g0339	13	195	0.0667	10	c.-7- others(23): Show c.-7-776_-7-767dupCCCCTCCCCT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34226105	T T	TTGTGTGT others(3): Show TTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03471.hp1 HG02630.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0176 a0001c0001t0005g0014 a0001c0001t0003g0176 a0001c0001t0005g0014	2	233	0.0086	10	c.34+ others(25): Show c.34+5200_34+5209dupTGTGTGTGTG	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34226129	G G	GTGTGTGT others(3): Show GTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	333	0.0030	10	c.34+ others(25): Show c.34+5190_34+5191insTTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34226133	G G	GTGTGTGT others(3): Show GTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02135.hp1 NA19090.hp1 HG02129.hp2 HG02135.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0264 a0001c0001t0001g0002 a0001c0001t0001g0041 a0001c0001t0001g0264	3	247	0.0121	10	c.34+ others(25): Show c.34+5194_34+5195insTTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34231127	A A	ATGTGTGT others(3): Show ATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02970.hp2 HG01433.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0186 a0001c0001t0003g0009 a0001c0001t0003g0186	2	31	0.0645	10	c.35- others(25): Show c.35-3049_35-3040dupGTGTGTGTGT	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP1_chr9_34174043_34257523	34246836	A A	AAATATTT others(3): Show AAATATTTGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03579.hp2 NA18522.hp1 HG02809.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0163 a0001c0001t0002g0265 a0001c0001t0006g0160 a0001c0001t0002g0163 a0001c0001t0002g0265 a0001c0001t0006g0160	3	340	0.0088	10	c.108 others(29): Show c.1084-2941_1084-2940insTATTTGTGAA	UBAP1	ENSG00000165006.14	transcript	ENST00000297661.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
UBAP2L_chr1_154215955_154275847	154229105	T T	TTTTTATT others(3): Show TTTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG02886.hp1 others(4): Show HG01109.hp2 HG01433.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03540.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0142 a0001c0001t0003g0143 others(2): Show a0001c0001t0003g0012 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0282	7	321	0.0218	10	c.279 others(25): Show c.279+394_279+403dupTATTTTATTT	UBAP2L	ENSG00000143569.20	transcript	ENST00000428931.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr1	TogoVar

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