Joint Open Genome and Omics Platform (JoGo)

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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
UCN2_chr3_48556718_48568781	48559898	CCACACAC others(15): Show CCACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	41	0.0244	-22	c.28 others(33): Show c.2866_*2887delTGTGTGTGTGTGTGTGTGTGTG	UCN2	ENSG00000145040.4	transcript	ENST00000273610.4	protein_coding		1819		chr3	TogoVar
UCN3_chr10_5359966_5379692	5370034	CGTGTGTA others(15): Show CGTGTGTATATGCGTGTGTATGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	370	0.0027	-22	c.-6- others(37): Show c.-6-3669_-6-3648delCGTGTGTATGTGTGTGTATATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370129	GTATGTGT others(15): Show GTATGTGTGTGTATGCGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03139.hp1 HG03471.hp2 others(2): Show HG02809.hp1 HG03139.hp1 HG03471.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0039 a0001c0001t0001g0268 a0001c0001t0001g0269 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0006g0280	5	401	0.0125	-22	c.-6- others(37): Show c.-6-3572_-6-3551delGCGTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCP2_chr11_73969672_73987843	73986517	GGTTTTTT others(15): Show GGTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(5): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01123.hp1 HG01255.hp1 HG02735.hp1 HG02735.hp2 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0005 a0002c0002t0004g0005	8	416	0.0192	-22	c.-40 others(33): Show c.-4075_-4054delAAAAAAAAAAAAAAAAAAAAAC	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding		3675		chr11	TogoVar
UCP2_chr11_73969672_73987843	73986518	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02056.hp1 HG02135.hp2 others(5): Show HG00423.hp2 HG02056.hp1 HG02135.hp2 NA18747.hp1 NA18965.hp1 NA18994.hp1 NA19004.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0022 a0002c0002t0001g0001 a0002c0002t0001g0022	8	135	0.0593	-22	c.-40 others(33): Show c.-4076_-4055delAAAAAAAAAAAAAAAAAAAAAA	UCP2	ENSG00000175567.11	transcript	ENST00000663595.2	protein_coding		3676		chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560118	CACACACA others(15): Show CACACACACACACACACACACAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00438.hp2 others(66): Show HG00140.hp2 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01167.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02735.hp2 HG03239.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp2 NA18977.hp1 NA18989.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0182 a0001c0001t0001g0279 a0001c0001t0001g0296 others(62): Show a0001c0001t0001g0182 a0001c0001t0001g0279 a0001c0001t0001g0296 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0104 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0295	69	398	0.1734	-22	c.613 others(39): Show c.613-1810_613-1789delCTGTGTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560120	CACACACA others(15): Show CACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0278	1	388	0.0026	-22	c.613 others(39): Show c.613-1812_613-1791delCTCTGTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UGCG_chr9_111891814_111940369	111911905	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0306 a0001c0001t0015g0145 a0001c0001t0005g0306 a0001c0001t0015g0145	2	152	0.0132	-22	c.99- others(37): Show c.99-2669_99-2648delATATATATATATATATATATAT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT1_chr2_128086200_128200677	128186894	ATTTCCTA others(15): Show ATTTCCTAGATTCTTATTTAGAC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02922.hp1 HG02723.hp1 HG02922.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0023 a0005c0011t0023	a0005c0011t0023g0003 a0005c0011t0023g0004 a0005c0011t0023g0003 a0005c0011t0023g0004	2	330	0.0061	-22	c.447 others(39): Show c.4476+100_4476+121delCTAGATTCTTATTTAGACTTTC	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	39/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT2_chr13_95796580_96058401	95889172	GCATACTA others(15): Show GCATACTAAAAAGCATCATACTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp1 others(75): Show HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp2 HG02055.hp1 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02280.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03540.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18965.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18999.hp2 NA19001.hp2 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19063.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20805.hp2	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0008 a0023	a0003c0003 a0003c0009 a0004c0006 others(5): Show a0003c0003 a0003c0009 a0004c0006 a0004c0010 a0005c0007 a0008c0016 a0008c0023 a0023c0030	a0003c0003t0001 a0003c0009t0001 a0003c0009t0002 others(6): Show a0003c0003t0001 a0003c0009t0001 a0003c0009t0002 a0004c0006t0001 a0004c0010t0001 a0005c0007t0001 a0008c0016t0001 a0008c0023t0001 a0023c0030t0001	a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 others(75): Show a0003c0003t0001g0018 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0154 a0003c0003t0001g0168 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0241 a0003c0003t0001g0242 a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0247 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0285 a0003c0009t0001g0311 a0003c0009t0002g0001 a0003c0009t0002g0002 a0003c0009t0002g0003 a0004c0006t0001g0024 a0004c0006t0001g0166 a0004c0006t0001g0167 a0004c0006t0001g0169 a0004c0006t0001g0170 a0004c0006t0001g0171 a0004c0006t0001g0172 a0004c0006t0001g0173 a0004c0006t0001g0174 a0004c0006t0001g0175 a0004c0006t0001g0279 a0004c0010t0001g0155 a0004c0010t0001g0156 a0004c0010t0001g0157 a0005c0007t0001g0158 a0005c0007t0001g0159 a0005c0007t0001g0160 a0005c0007t0001g0161 a0005c0007t0001g0162 a0005c0007t0001g0163 a0005c0007t0001g0164 a0005c0007t0001g0165 a0005c0007t0001g0176 a0005c0007t0001g0284 a0008c0016t0001g0152 a0008c0016t0001g0153 a0008c0023t0001g0228 a0023c0030t0001g0268	78	330	0.2364	-22	c.295 others(41): Show c.2959-1223_2959-1202delTAGTATGATGCTTTTTAGTATG	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	25/38			chr13	TogoVar
UGT2A3_chr4_68923463_68956804	68935272	GTATGTAT others(15): Show GTATGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18987.hp2 NA18939.hp1 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0033 a0001c0002t0004g0033	2	251	0.0080	-22	c.865 others(39): Show c.865-2535_865-2514delTATATATATATATATATACATA	UGT2A3	ENSG00000135220.11	transcript	ENST00000251566.9	protein_coding	2/5			chr4	TogoVar
UGT8_chr4_114593807_114683225	114611403	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03942.hp2 HG01975.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0003g0238 a0001c0001t0001g0099 a0001c0001t0003g0238	2	86	0.0233	-22	c.-2- others(39): Show c.-2-11454_-2-11433delTATATATATATATATATATATA	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
UHRF2_chr9_6408199_6512054	6488251	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	4	0.2500	-22	c.149 others(41): Show c.1497+1361_1497+1382delAAAAAAAAAAAAAAAAAAAAAA	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	9/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK1_chr12_131889622_131928150	131894126	AGGAGGGG others(15): Show AGGAGGGGAACAGGGAAGGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0185 a0002c0004t0004g0185	1	342	0.0029	-22	c.-87 others(31): Show c.-875_-854delGGAGGGGAACAGGGAAGGGGAG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding		495		chr12	TogoVar
UMAD1_chr7_7635752_7884223	7797478	TCAGACAA others(15): Show TCAGACAAGCCTCCTCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0138 a0001c0001t0010g0138	1	248	0.0040	-22	c.83- others(37): Show c.83-4190_83-4169delAGACAAGCCTCCTCTGGGTGAC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847098	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA20905.hp1 NA19057.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0045 a0001c0001t0007 a0001c0001t0045	a0001c0001t0007g0071 a0001c0001t0045g0212 a0001c0001t0007g0071 a0001c0001t0045g0212	2	246	0.0081	-22	c.157 others(41): Show c.157-30181_157-30160delAAAAAATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847100	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0029 a0001c0001t0014 a0001c0001t0029	a0001c0001t0014g0219 a0001c0001t0029g0226 a0001c0001t0014g0219 a0001c0001t0029g0226	2	228	0.0088	-22	c.157 others(41): Show c.157-30179_157-30158delAAAATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847102	AAAATATA others(15): Show AAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18522.hp1 NA19000.hp2 HG02809.hp1 NA18522.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0021 a0001c0001t0001 a0001c0001t0016 a0001c0001t0021	a0001c0001t0001g0055 a0001c0001t0016g0148 a0001c0001t0021g0042 a0001c0001t0001g0055 a0001c0001t0016g0148 a0001c0001t0021g0042	3	218	0.0138	-22	c.157 others(41): Show c.157-30177_157-30156delAATATATATATATATATATATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7847104	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 NA18999.hp1 NA19063.hp2 HG02523.hp1 NA18999.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0002g0046 a0001c0001t0004g0171 a0001c0001t0001g0050 a0001c0001t0002g0046 a0001c0001t0004g0171	3	202	0.0149	-22	c.157 others(41): Show c.157-30148_157-30127delATATATATATATATATATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42077002	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp1 HG02965.hp1 others(2): Show HG02451.hp2 HG02809.hp1 HG02965.hp1 HG03453.hp2 NA19240.hp2	a0010 a0027 a0030 others(1): Show a0010 a0027 a0030 a0047	a0010c0063 a0027c0040 a0030c0024 others(1): Show a0010c0063 a0027c0040 a0030c0024 a0047c0037	a0010c0063t0001 a0027c0040t0004 a0030c0024t0012 others(1): Show a0010c0063t0001 a0027c0040t0004 a0030c0024t0012 a0047c0037t0001	a0010c0063t0001g0361 a0027c0040t0004g0374 a0027c0040t0004g0375 others(2): Show a0010c0063t0001g0361 a0027c0040t0004g0374 a0027c0040t0004g0375 a0030c0024t0012g0360 a0047c0037t0001g0373	5	36	0.1389	-22	c.319 others(37): Show c.319+799_319+820delTGTGTGTGTGTGTGTGTGTGTG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42110058	AGTGGCCT others(15): Show AGTGGCCTGGAGCCCGAGAGGGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp1 others(56): Show HG00438.hp1 HG00597.hp2 HG00609.hp1 HG01257.hp1 HG01358.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02165.hp1 HG02257.hp1 HG02300.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18989.hp2 NA18992.hp2 NA18994.hp2 NA18998.hp1 NA19011.hp2 NA19065.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp1 NA19090.hp2 NA20129.hp1 NA20300.hp1	a0003 a0005 a0007 others(22): Show a0003 a0005 a0007 a0009 a0012 a0017 a0023 a0025 a0026 a0034 a0045 a0053 a0055 a0057 a0066 a0071 a0074 a0085 a0086 a0093 a0095 a0101 a0108 a0120 a0121	a0003c0051 a0003c0102 a0005c0019 others(29): Show a0003c0051 a0003c0102 a0005c0019 a0007c0006 a0007c0078 a0009c0017 a0009c0018 a0012c0120 a0012c0145 a0012c0187 a0017c0011 a0023c0099 a0023c0101 a0025c0028 a0026c0025 a0026c0079 a0034c0111 a0045c0041 a0053c0065 a0055c0080 a0057c0186 a0066c0081 a0071c0105 a0074c0157 a0085c0100 a0086c0158 a0093c0162 a0095c0143 a0101c0086 a0108c0124 a0120c0138 a0121c0137	a0003c0051t0001 a0003c0102t0001 a0005c0019t0001 others(39): Show a0003c0051t0001 a0003c0102t0001 a0005c0019t0001 a0005c0019t0005 a0005c0019t0018 a0005c0019t0027 a0007c0006t0001 a0007c0006t0003 a0007c0006t0016 a0007c0078t0003 a0009c0017t0003 a0009c0017t0006 a0009c0017t0016 a0009c0018t0001 a0009c0018t0003 a0012c0120t0001 a0012c0145t0001 a0012c0187t0001 a0017c0011t0002 a0017c0011t0015 a0023c0099t0001 a0023c0101t0026 a0025c0028t0001 a0026c0025t0001 a0026c0025t0003 a0026c0079t0001 a0034c0111t0012 a0045c0041t0001 a0053c0065t0001 a0055c0080t0002 a0057c0186t0003 a0066c0081t0006 a0071c0105t0019 a0074c0157t0001 a0085c0100t0001 a0086c0158t0001 a0093c0162t0005 a0095c0143t0001 a0101c0086t0002 a0108c0124t0002 a0120c0138t0001 a0121c0137t0005	a0003c0051t0001g0076 a0003c0051t0001g0082 a0003c0102t0001g0307 others(54): Show a0003c0051t0001g0076 a0003c0051t0001g0082 a0003c0102t0001g0307 a0005c0019t0001g0268 a0005c0019t0005g0064 a0005c0019t0018g0273 a0005c0019t0027g0362 a0007c0006t0001g0238 a0007c0006t0003g0033 a0007c0006t0003g0186 a0007c0006t0003g0189 a0007c0006t0003g0248 a0007c0006t0003g0252 a0007c0006t0003g0253 a0007c0006t0016g0167 a0007c0078t0003g0338 a0009c0017t0003g0326 a0009c0017t0003g0327 a0009c0017t0006g0328 a0009c0017t0016g0287 a0009c0018t0001g0125 a0009c0018t0001g0201 a0009c0018t0001g0282 a0009c0018t0003g0319 a0012c0120t0001g0325 a0012c0145t0001g0212 a0012c0187t0001g0226 a0017c0011t0002g0245 a0017c0011t0002g0246 a0017c0011t0002g0247 a0017c0011t0002g0264 a0017c0011t0015g0342 a0023c0099t0001g0221 a0023c0101t0026g0331 a0025c0028t0001g0008 a0025c0028t0001g0274 a0026c0025t0001g0084 a0026c0025t0001g0263 a0026c0025t0003g0034 a0026c0079t0001g0229 a0034c0111t0012g0275 a0045c0041t0001g0012 a0045c0041t0001g0014 a0053c0065t0001g0007 a0055c0080t0002g0234 a0057c0186t0003g0174 a0066c0081t0006g0302 a0071c0105t0019g0083 a0074c0157t0001g0219 a0085c0100t0001g0149 a0086c0158t0001g0370 a0093c0162t0005g0265 a0095c0143t0001g0277 a0101c0086t0002g0013 a0108c0124t0002g0206 a0120c0138t0001g0072 a0121c0137t0005g0162	59	398	0.1482	-22	c.165 others(39): Show c.1657+378_1657+399delGGGTGTGGCCTGGAGCCCGAGA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42110078	GGTGTGGC others(15): Show GGTGTGGCCTGGAGCCCGAGACA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0207 a0004c0007t0002g0207	1	398	0.0025	-22	c.165 others(39): Show c.1657+386_1657+407delCCTGGAGCCCGAGACAGTGTGG	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42122590	TGTGCATG others(15): Show TGTGCATGTGTGTGCATCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02622.hp1 HG02647.hp2 others(6): Show HG01884.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG03225.hp2 HG03579.hp1 NA21309.hp1	a0002 a0010 a0021 others(5): Show a0002 a0010 a0021 a0023 a0032 a0070 a0082 a0087	a0002c0121 a0010c0063 a0021c0034 others(5): Show a0002c0121 a0010c0063 a0021c0034 a0023c0099 a0032c0033 a0070c0106 a0082c0112 a0087c0159	a0002c0121t0001 a0010c0063t0001 a0021c0034t0001 others(5): Show a0002c0121t0001 a0010c0063t0001 a0021c0034t0001 a0023c0099t0001 a0032c0033t0001 a0070c0106t0001 a0082c0112t0001 a0087c0159t0001	a0002c0121t0001g0272 a0010c0063t0001g0361 a0021c0034t0001g0359 others(6): Show a0002c0121t0001g0272 a0010c0063t0001g0361 a0021c0034t0001g0359 a0021c0034t0001g0378 a0023c0099t0001g0221 a0032c0033t0001g0276 a0070c0106t0001g0157 a0082c0112t0001g0358 a0087c0159t0001g0044	9	398	0.0226	-22	c.282 others(39): Show c.2828-224_2828-203delCTCTGCGTGCATGTGTGTGCAT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13B_chr9_35157009_35410335	35380975	GTCCTTGG others(15): Show GTCCTTGGGTTGGCCCCTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0001 a0001c0023t0001	a0001c0023t0001g0062 a0001c0023t0001g0062	1	222	0.0045	-22	c.103 others(40): Show c.10376-104_10376-83delTTTCCTTGGGTTGGCCCCTTCT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01169.hp1 HG03540.hp1 others(3): Show HG00099.hp1 HG01169.hp1 HG03540.hp1 HG04199.hp1 NA18991.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0001t0032 a0001c0002t0034 others(3): Show a0001c0001t0002 a0001c0001t0032 a0001c0002t0034 a0001c0003t0002 a0001c0003t0003 a0001c0007t0001	a0001c0001t0002g0144 a0001c0001t0032g0099 a0001c0002t0034g0079 others(3): Show a0001c0001t0002g0144 a0001c0001t0032g0099 a0001c0002t0034g0079 a0001c0003t0002g0088 a0001c0003t0003g0103 a0001c0007t0001g0029	6	14	0.4286	-22	c.307 others(43): Show c.3071+29056_3071+29077delATATATATATATATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5B_chr10_71207570_71307864	71224364	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0260 a0001c0023t0003g0260	1	109	0.0092	-22	c.79+ others(39): Show c.79+11331_79+11352delACACACACACACACACACACAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95526780	CTGTATTT others(15): Show CTGTATTTCTATGAAACTACTCA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03704.hp2 HG02698.hp2 HG03704.hp2	a0001 a0010 a0001 a0010	a0001c0005 a0010c0039 a0001c0005 a0010c0039	a0001c0005t0001 a0010c0039t0001 a0001c0005t0001 a0010c0039t0001	a0001c0005t0001g0023 a0010c0039t0001g0117 a0001c0005t0001g0023 a0010c0039t0001g0117	2	204	0.0098	-22	c.124 others(41): Show c.124+21932_124+21953delTGAGTAGTTTCATAGAAATACA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35300446	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03471.hp2 HG02615.hp1 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0021 a0001c0003t0003g0022 a0001c0002t0001g0021 a0001c0003t0003g0022	2	3	0.6667	-22	c.103 others(41): Show c.103+64586_103+64607delAAAAAAAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35538395	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03225.hp1 HG01928.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0015 a0001c0001t0006 a0001c0002t0015	a0001c0001t0006g0010 a0001c0002t0015g0043 a0001c0001t0006g0010 a0001c0002t0015g0043	2	10	0.2000	-22	c.104 others(41): Show c.104-10873_104-10852delATATATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35657076	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0064 a0001c0001t0010g0064	1	61	0.0164	-22	c.571 others(41): Show c.571-26469_571-26448delGTGTATATATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93558593	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	3	0.3333	-22	c.175 others(43): Show c.1756-13278_1756-13257delTTTTTTTTTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660520	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0188 a0001c0016t0001g0188	1	70	0.0143	-22	c.685 others(41): Show c.6858+1282_6858+1303delATATATATATATATATATATAT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660553	ATATATAT others(15): Show ATATATATATATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0001 a0001c0019t0001g0001	1	192	0.0052	-22	c.685 others(41): Show c.6858+1294_6858+1315delATATATATATGTGTGTGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209955692	AATATATA others(15): Show AATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02683.hp1 HG01358.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0094 a0001c0001t0007g0095	2	92	0.0217	-22	c.745 others(41): Show c.7457+1448_7457+1469delTATATATATATATATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955724	TATATATA others(15): Show TATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	185	0.0054	-22	c.745 others(41): Show c.7457+1456_7457+1477delTATATATATATATACACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209961265	TCTGTGCC others(15): Show TCTGTGCCTGGCACAGATCTGGA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0034 a0001c0007t0001g0034	1	186	0.0054	-22	c.780 others(41): Show c.7805+1560_7805+1581delTGTGCCTGGCACAGATCTGGAC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	51/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPF2_chr10_11915022_12047809	11938842	GTTTTTTT others(15): Show GTTTTTTTTTTGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	311	0.0032	-22	c.337 others(41): Show c.3379-2152_3379-2131delAAAAAAAAAAACAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPK1B_chr3_119168598_119210143	119175012	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01168.hp2 others(51): Show HG00323.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp2 NA18946.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18981.hp2 NA18990.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19067.hp1 NA19074.hp1 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0007 others(2): Show a0001c0001 a0001c0004 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0007t0005 a0002c0002t0001 a0003c0003t0004	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 others(44): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0007g0135 a0001c0001t0007g0140 a0001c0001t0007g0141 a0001c0004t0001g0136 a0001c0007t0005g0242 a0002c0002t0001g0225 a0003c0003t0004g0325	54	65	0.8308	-22	c.-29 others(39): Show c.-29+1388_-29+1409delTTTTTTTTTTTTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK1B_chr3_119168598_119210143	119179352	GATATATA others(15): Show GATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	206	0.0049	-22	c.-29 others(39): Show c.-29+5739_-29+5760delATATATATATATATATATATAT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK1B_chr3_119168598_119210143	119179377	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02622.hp1 others(3): Show HG02451.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0003 a0004c0005t0001 a0001c0001t0003 a0004c0005t0001	a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 others(3): Show a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0004c0005t0001g0337 a0004c0005t0001g0352 a0004c0005t0001g0353	6	420	0.0143	-22	c.-29 others(39): Show c.-29+5740_-29+5761delTATATATATATATATATATATT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7			chr3	TogoVar
UPP2_chr2_158096876_158141154	158140806	CCAAACAG others(15): Show CCAAACAGAAGTCATTGAATCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0008 a0002c0002t0005g0008	1	340	0.0029	-22	c.59 others(33): Show c.5917_*5938delCAAACAGAAGTCATTGAATCTA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding		4653		chr2	TogoVar
UQCRC2_chr16_21948361_21988660	21961626	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	18	0.0556	-22	c.333 others(37): Show c.333-812_333-791delATATATATATATATATATATAT	UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
UQCRH_chr1_46298698_46321776	46305468	TGGGAGGC others(15): Show TGGGAGGCCGAGGCGGGTGGATC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(280): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(133): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0013 a0001c0001t0003g0031 a0002c0002t0001g0007 a0002c0002t0001g0021 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0147 a0002c0002t0001g0201 a0003c0004t0001g0032	283	422	0.6706	-22	c.54+ others(37): Show c.54+1693_54+1714delGGGAGGCCGAGGCGGGTGGATC	UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
URAD_chr13_27972717_27993693	27986712	TTTTTTTC others(15): Show TTTTTTTCCTGTAAAGAAATTAC	T T	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	426	0.0023	-22	c.175 others(39): Show c.175+1729_175+1750delGTAATTTCTTTACAGGAAAAAA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding	1/1			chr13	TogoVar
URGCP_chr7_43870913_43911596	43883321	AATATATA others(15): Show AATATATATATATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG03209.hp2 others(2): Show HG02109.hp1 HG02258.hp2 HG03209.hp2 HG03225.hp2 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0003 a0005c0015 a0001c0003 a0005c0015	a0001c0003t0004 a0005c0015t0004 a0001c0003t0004 a0005c0015t0004	a0001c0003t0004g0019 a0001c0003t0004g0051 a0001c0003t0004g0268 others(1): Show a0001c0003t0004g0019 a0001c0003t0004g0051 a0001c0003t0004g0268 a0005c0015t0004g0267	5	388	0.0129	-22	c.113 others(39): Show c.113-1386_113-1365delATATATGTATATATATATATAT	URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	3/5			chr7	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01884.hp2 HG02258.hp2 others(4): Show HG00642.hp2 HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02630.hp2 NA19030.hp1 NA19070.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0249 others(4): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0002c0002t0001g0084	7	44	0.1591	-22	c.117 others(39): Show c.117+1508_117+1529delTATATATATATATATATATATA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02897.hp2 HG02572.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0077 a0002c0002t0001g0028 a0001c0001t0001g0077 a0002c0002t0001g0028	2	3	0.6667	-22	c.153 others(35): Show c.153-67_153-46delAAAAAAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
USF1_chr1_161034251_161050977	161039284	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAGAAAAG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	394	0.0025	-22	c.61 others(31): Show c.614_*635delCTTTTCTTTTTTTTTTTTTTTT	USF1	ENSG00000158773.14	transcript	ENST00000368021.7	protein_coding	11/11	614		chr1	TogoVar
USH2A_chr1_215617891_216428448	215630480	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0008 a0008	a0008c0037 a0008c0037	a0008c0037t0001 a0008c0037t0001	a0008c0037t0001g0033 a0008c0037t0001g0033	1	34	0.0294	-22	c.152 others(43): Show c.15298-1467_15298-1446delTATATATATATATATATATACA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	70/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216135160	TCTCTCTC others(15): Show TCTCTCTCACACACACACATACA	T T	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0057 a0057	a0057c0038 a0057c0038	a0057c0038t0001 a0057c0038t0001	a0057c0038t0001g0044 a0057c0038t0001g0044	1	65	0.0154	-22	c.462 others(43): Show c.4628-37969_4628-37948delTGTATGTGTGTGTGTGAGAGAG	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	21/71			chr1	TogoVar

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