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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
TYW1_chr7_66991833_67244514	67184613	TTTTATTT others(33): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01361.hp2 others(6): Show HG01074.hp1 HG01255.hp2 HG01361.hp2 HG01884.hp1 HG02165.hp1 HG02486.hp1 HG02922.hp1 NA18946.hp2 NA19086.hp1	a0002 a0004 a0002 a0004	a0002c0004 a0004c0006 a0004c0011 a0002c0004 a0004c0006 a0004c0011	a0002c0004t0002 a0002c0004t0004 a0004c0006t0005 others(1): Show a0002c0004t0002 a0002c0004t0004 a0004c0006t0005 a0004c0011t0005	a0002c0004t0002g0306 a0002c0004t0002g0308 a0002c0004t0002g0358 others(6): Show a0002c0004t0002g0306 a0002c0004t0002g0308 a0002c0004t0002g0358 a0002c0004t0004g0293 a0002c0004t0004g0295 a0002c0004t0004g0299 a0004c0006t0005g0222 a0004c0006t0005g0364 a0004c0011t0005g0354	9	299	0.0301	-40	c.180 others(59): Show c.1809+1380_1809+1419delTATTTTATTTTATTTTATTTTATTTT ATTTTATTTATGTT		TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	14/15				INFO_REALIGN_3_PRIME	chr7	TogoVar
UBAP2_chr9_33916693_34053887	33981264	GATATATA others(33): Show GATATATATATATATTCTGGATATATATATATATTCTGGAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA19240.hp1 HG01884.hp2 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0113 a0002c0001t0003g0114 a0002c0001t0003g0113 a0002c0001t0003g0114	2	307	0.0065	-40	c.520 others(57): Show c.520+5456_520+5495delATCCAGAATATATATATATATCCAGAAT ATATATATATAT		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	6/28					chr9	TogoVar
UBAP2_chr9_33916693_34053887	34039019	AGAAGTGA others(33): Show AGAAGTGAGGAGCCCCTCCGCCCAGCAGCCGCCCCGTCTGG	A A	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0227 a0001c0002t0001g0227	1	354	0.0028	-40	c.-42 others(57): Show c.-42+9766_-42+9805delCCAGACGGGGCGGCTGCTGGGCGGAGGG GCTCCTCACTTC		UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding	1/28					chr9	TogoVar
UBE2E1_chr3_23800955_23896640	23871792	ACTCCTCA others(33): Show ACTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGGCG	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18979.hp2 NA19000.hp1 others(5): Show NA18962.hp1 NA18979.hp2 NA19000.hp1 NA19006.hp1 NA19062.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0176 a0001c0001t0001g0180 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0247	8	368	0.0217	-40	c.204 others(59): Show c.204-15746_204-15707delCGGGAAGAGGCGCTCCTCACTTCCTA GATGGGATGGCGGC		UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2E1_chr3_23800955_23896640	23871937	CAGGCAGA others(33): Show CAGGCAGAGACGCTCCTCACTTCCCAGACAGGGTGGCGGCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	368	0.0027	-40	c.204 others(59): Show c.204-15629_204-15590delAGGCAGAGACGCTCCTCACTTCCCAG ACAGGGTGGCGGCT		UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5					chr3	TogoVar
UBE2I_chr16_1304636_1332017	1307995	GGAGGGAG others(33): Show GGAGGGAGGGAATGAATGAATGAGGGAGGGAATGAACGAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00639.hp1 others(139): Show HG00280.hp2 HG00323.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18947.hp2 NA18954.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18993.hp1 NA19000.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0038 a0001c0001t0042 a0001c0001t0045 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0015 a0001c0002t0021 a0001c0002t0023 a0001c0002t0027	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0034 others(123): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0149 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0221 a0001c0001t0001g0261 a0001c0001t0002g0038 a0001c0001t0002g0174 a0001c0001t0002g0196 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0237 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0003g0136 a0001c0001t0005g0209 a0001c0001t0005g0210 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0007g0178 a0001c0001t0007g0199 a0001c0001t0007g0206 a0001c0001t0008g0219 a0001c0001t0009g0229 a0001c0001t0009g0238 a0001c0001t0010g0175 a0001c0001t0010g0176 a0001c0001t0010g0177 a0001c0001t0010g0179 a0001c0001t0011g0036 a0001c0001t0011g0217 a0001c0001t0011g0218 a0001c0001t0012g0208 a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0020g0192 a0001c0001t0020g0193 a0001c0001t0022g0234 a0001c0001t0022g0236 a0001c0001t0024g0215 a0001c0001t0025g0181 a0001c0001t0026g0207 a0001c0001t0028g0277 a0001c0001t0029g0274 a0001c0001t0030g0041 a0001c0001t0031g0233 a0001c0001t0032g0235 a0001c0001t0038g0008 a0001c0001t0042g0021 a0001c0001t0045g0161 a0001c0001t0047g0182 a0001c0002t0001g0265 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0039 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0264 a0001c0002t0002g0269 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0005g0009 a0001c0002t0005g0039 a0001c0002t0005g0224 a0001c0002t0005g0252 a0001c0002t0005g0254 a0001c0002t0005g0262 a0001c0002t0005g0263 a0001c0002t0005g0266 a0001c0002t0005g0270 a0001c0002t0007g0240 a0001c0002t0009g0037 a0001c0002t0009g0040 a0001c0002t0015g0258 a0001c0002t0015g0259 a0001c0002t0015g0260 a0001c0002t0021g0243 a0001c0002t0021g0253 a0001c0002t0023g0015 a0001c0002t0027g0040	142	160	0.8875	-40	c.-17 others(51): Show c.-1789_-1750delGAGGGAGGGAATGAATGAATGAGGGAGGGAATGA ACGAAT		UBE2I	ENSG00000103275.22	transcript	ENST00000397514.8	protein_coding				1640		chr16	TogoVar
UBE2R2_chr9_33812160_33925399	33878042	CCACTGCA others(33): Show CCACTGCACCCATCCACCTATTTATATTTTTATATCTTTTA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	364	0.0027	-40	c.178 others(57): Show c.178-8838_178-8799delCACTGCACCCATCCACCTATTTATATTT TTATATCTTTTA		UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4					chr9	TogoVar
UBE2U_chr1_64198623_64272368	64201031	CGCCGCCA others(33): Show CGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00733.hp2 others(1): Show HG00323.hp1 HG00323.hp2 HG00733.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0178 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0178 a0001c0001t0001g0179	4	327	0.0122	-40	c.-30 others(51): Show c.-3019_-2980delGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTC TTCCCG		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding				2591		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239117	GAAGAAGA others(33): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0275 a0002c0003t0002g0275	1	327	0.0031	-40	c.596 others(57): Show c.596-2499_596-2460delGAAGAAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAA		UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9				INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE3A_chr15_25328728_25444024	25430085	AAGATTAT others(33): Show AAGATTATATATATATTATATATATAATACATATATATAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02976.hp1 HG02723.hp2 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0144 a0001c0003t0010g0262 a0001c0003t0010g0144 a0001c0003t0010g0262	2	295	0.0068	-40	c.-16 others(59): Show c.-165+8364_-165+8403delCTTATATATATGTATTATATATATAA TATATATATAATCT		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12					chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430165	TTATATAT others(33): Show TTATATATATATTATATATATAATACATATATATAAGATTA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0040 a0001c0003t0040	a0001c0003t0040g0145 a0001c0003t0040g0145	1	288	0.0035	-40	c.-16 others(59): Show c.-165+8284_-165+8323delTAATCTTATATATATGTATTATATAT ATAATATATATATA		UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12					chr15	TogoVar
UBE4A_chr11_118354600_118404211	118355588	CATATATA others(33): Show CATATATACACATATGTATATATACACATATACATATATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02717.hp2 others(2): Show HG02109.hp1 HG02486.hp2 HG02717.hp2 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 others(2): Show a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041	5	224	0.0223	-40	c.-41 others(51): Show c.-4127_-4088delATATATACACATATGTATATATACACATATACAT ATATGT		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding				4011		chr11	TogoVar
UBL3_chr13_29759371_29855617	29788852	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCACGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG03492.hp2 others(3): Show HG00280.hp1 HG00738.hp1 HG03492.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0327 a0001c0001t0008g0334 a0001c0001t0008g0349 others(3): Show a0001c0001t0008g0327 a0001c0001t0008g0334 a0001c0001t0008g0349 a0001c0001t0008g0350 a0001c0001t0008g0351 a0001c0001t0008g0352	6	390	0.0154	-40	c.28- others(57): Show c.28-11629_28-11590delGTGCGCGTGCGCGCGCGCGCGCACACAC ACACACACACAC		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4					chr13	TogoVar
UBL3_chr13_29759371_29855617	29788860	TGTGTGTG others(33): Show TGTGTGTGTGTGCGCGCGCGCGCGCACGCGCACGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	386	0.0026	-40	c.28- others(57): Show c.28-11637_28-11598delGCACACACGTGCGCGTGCGCGCGCGCGC GCACACACACAC		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4					chr13	TogoVar
UBL3_chr13_29759371_29855617	29835085	TATAAATA others(33): Show TATAAATATATATATATATATAAATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0348 a0001c0001t0005g0348	1	390	0.0026	-40	c.27+ others(57): Show c.27+14387_27+14426delTTATATATATATATATATTTATATATAT ATATATATTTAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4					chr13	TogoVar
UBL3_chr13_29759371_29855617	29835089	AATATATA others(33): Show AATATATATATATATATAAATATATATATATATATAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02723.hp2 HG02895.hp1 others(4): Show HG02074.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1 HG03834.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0247 a0001c0001t0002g0254 a0001c0001t0002g0256 others(4): Show a0001c0001t0002g0247 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0001t0009g0021	7	298	0.0235	-40	c.27+ others(57): Show c.27+14383_27+14422delATATTTATATATATATATATATTTATAT ATATATATATAT		UBL3	ENSG00000122042.10	transcript	ENST00000380680.5	protein_coding	1/4					chr13	TogoVar
UBN2_chr7_139226237_139313236	139228886	AATAGCTT others(33): Show AATAGCTTTAATTTTCTGAGCAGTCTGTCAGATGTTTATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0138 a0001c0001t0025g0139 a0001c0001t0025g0138 a0001c0001t0025g0139	2	260	0.0077	-40	c.-25 others(51): Show c.-2598_-2559delATAGCTTTAATTTTCTGAGCAGTCTGTCAGATGT TTATAT		UBN2	ENSG00000157741.15	transcript	ENST00000473989.8	protein_coding				2350		chr7	TogoVar
UBR4_chr1_19069510_19215266	19143251	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0265 a0001c0001t0001g0221 a0001c0001t0001g0265	2	256	0.0078	-40	c.817 others(57): Show c.8179+689_8179+728delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCCTTCCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105					chr1	TogoVar
UBR4_chr1_19069510_19215266	19143259	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01952.hp1 HG01978.hp1 others(16): Show HG00642.hp2 HG01952.hp1 HG01978.hp1 HG02074.hp2 HG02293.hp1 HG02630.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18945.hp1 NA18946.hp2 NA18955.hp2 NA18964.hp2 NA18966.hp1 NA18974.hp2 NA18993.hp2 NA19057.hp1 NA19090.hp2	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0001 a0001c0017 a0001c0037 others(2): Show a0001c0001 a0001c0017 a0001c0037 a0010c0021 a0011c0016	a0001c0001t0001 a0001c0017t0001 a0001c0037t0001 others(2): Show a0001c0001t0001 a0001c0017t0001 a0001c0037t0001 a0010c0021t0001 a0011c0016t0001	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0094 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0017t0001g0070 a0001c0017t0001g0078 a0001c0037t0001g0304 a0010c0021t0001g0072 a0010c0021t0001g0077 a0011c0016t0001g0058 a0011c0016t0001g0069	19	203	0.0936	-40	c.817 others(57): Show c.8179+681_8179+720delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT		UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	55/105					chr1	TogoVar
UBTD1_chr10_97493924_97576206	97529199	ATGGGATG others(33): Show ATGGGATGGCGGCCGGGAAGAGGCGCTCCTCACTTCCTAGG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	312	0.0032	-40	c.70+ others(57): Show c.70+29943_70+29982delAAGAGGCGCTCCTCACTTCCTAGGTGGG ATGGCGGCCGGG		UBTD1	ENSG00000165886.5	transcript	ENST00000370664.4	protein_coding	1/2				INFO_REALIGN_3_PRIME	chr10	TogoVar
UCHL3_chr13_75544791_75611020	75592415	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	219	0.0046	-40	c.475 others(57): Show c.475-2487_475-2448delATATATATATATATATATATATATATAT ATATATATATAT		UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8				INFO_REALIGN_3_PRIME	chr13	TogoVar
UGGT2_chr13_95796580_96058401	95928350	CTCCCGGA others(33): Show CTCCCGGACAGGACGGCTGCCGGGCGGAGACGCTCCTCACT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00609.hp2 others(50): Show HG00323.hp1 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01934.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02258.hp1 HG02602.hp1 HG02698.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18941.hp2 NA18947.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18994.hp1 NA19000.hp2 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19063.hp1 NA19081.hp1 NA20752.hp1 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0013 a0001c0021 others(1): Show a0001c0001 a0001c0013 a0001c0021 a0007c0012	a0001c0001t0001 a0001c0013t0001 a0001c0021t0001 others(1): Show a0001c0001t0001 a0001c0013t0001 a0001c0021t0001 a0007c0012t0003	a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 others(50): Show a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0013t0001g0049 a0001c0013t0001g0050 a0001c0021t0001g0194 a0007c0012t0003g0034 a0007c0012t0003g0048 a0007c0012t0003g0055	53	330	0.1606	-40	c.197 others(59): Show c.1978-1054_1978-1015delAGTGAGGAGCGTCTCCGCCCGGCAGC CGTCCTGTCCGGGA		UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	17/38					chr13	TogoVar
UGT3A2_chr5_36030021_36071882	36062483	CATTTATT others(33): Show CATTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	408	0.0025	-40	c.196 others(57): Show c.196+1726_196+1765delAAAAACAAGCAATGGGGAAAGGATTCCC TATTTAATAAAT		UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding	2/6					chr5	TogoVar
UIMC1_chr5_176900006_177011779	176911112	GAAGAAAA others(33): Show GAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0324 a0003c0004t0001g0324	1	192	0.0052	-40	c.167 others(57): Show c.1676+159_1676+198delTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTT		UIMC1	ENSG00000087206.17	transcript	ENST00000511320.6	protein_coding	11/14					chr5	TogoVar
UMPS_chr3_124725452_124754273	124750749	GGGCGGCC others(33): Show GGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGATGGGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(82): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18981.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA20300.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0007 a0002c0002 a0002c0005 a0002c0007	a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 others(14): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0025 a0002c0002t0030 a0002c0002t0031 a0002c0002t0043 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0092 a0002c0002t0096 a0002c0005t0010 a0002c0005t0030 a0002c0005t0087 a0002c0005t0091 a0002c0007t0002	a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 others(38): Show a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0027 a0002c0002t0002g0034 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0089 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0009g0003 a0002c0002t0009g0014 a0002c0002t0009g0097 a0002c0002t0009g0103 a0002c0002t0010g0003 a0002c0002t0010g0020 a0002c0002t0010g0088 a0002c0002t0010g0090 a0002c0002t0025g0013 a0002c0002t0025g0039 a0002c0002t0025g0095 a0002c0002t0030g0003 a0002c0002t0031g0013 a0002c0002t0043g0013 a0002c0002t0043g0094 a0002c0002t0088g0105 a0002c0002t0089g0003 a0002c0002t0090g0013 a0002c0002t0092g0034 a0002c0002t0096g0101 a0002c0005t0010g0044 a0002c0005t0030g0043 a0002c0005t0087g0041 a0002c0005t0091g0042 a0002c0007t0002g0003 a0002c0007t0002g0098	85	432	0.1968	-40	c.66 others(51): Show c.6666_*6705delGGCGGCCGGGCAGAGACGCTCCTCACTTCCTAGA TGGGAT		UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding				1477		chr3	TogoVar
UMPS_chr3_124725452_124754273	124750760	CAGAGACG others(33): Show CAGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCTGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG02486.hp2 HG02055.hp1 HG02486.hp1 HG02486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0093 a0002c0006t0094 a0002c0006t0095 a0002c0006t0093 a0002c0006t0094 a0002c0006t0095	a0002c0006t0093g0109 a0002c0006t0094g0087 a0002c0006t0095g0108 a0002c0006t0093g0109 a0002c0006t0094g0087 a0002c0006t0095g0108	3	432	0.0069	-40	c.66 others(51): Show c.6677_*6716delAGAGACGCTCCTCACTTCCTAGATGGGATGGCGG CTGGGA		UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding				1488		chr3	TogoVar
UNC13A_chr19_17596336_17693354	17602352	CCCTCTGT others(33): Show CCCTCTGTCTCTGTGTTTTCTACTCTATTCCTCTTGGTCAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0035 a0001c0045t0035	a0001c0045t0035g0183 a0001c0045t0035g0183	1	318	0.0031	-40	c.36 others(51): Show c.3662_*3701delCTGACCAAGAGGAATAGAGTAGAAAACACAGAGA CAGAGG		UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	44/44			3662		chr19	TogoVar
UNC13B_chr9_35157009_35410335	35328630	TCCTTCCT others(33): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02486.hp1 HG02572.hp2 others(4): Show HG01074.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02896.hp1 HG02897.hp2 NA20129.hp2	a0005 a0022 a0005 a0022	a0005c0006 a0022c0041 a0005c0006 a0022c0041	a0005c0006t0001 a0022c0041t0001 a0005c0006t0001 a0022c0041t0001	a0005c0006t0001g0194 a0005c0006t0001g0196 a0005c0006t0001g0202 others(4): Show a0005c0006t0001g0194 a0005c0006t0001g0196 a0005c0006t0001g0202 a0005c0006t0001g0209 a0005c0006t0001g0210 a0005c0006t0001g0211 a0022c0041t0001g0200	7	222	0.0315	-40	c.941 others(61): Show c.9414+14652_9414+14691delTTCCTTCCTTCCTTCCTTCCTTCC TCCCTCCCTTCCTTCC		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	11/39				INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54172703	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0090 a0001c0001t0029g0090	1	9	0.1111	-40	c.307 others(61): Show c.3071+29038_3071+29077delATATATATATATATATATATATAT ATATATATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32				INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176805961	AGAAAGAA others(33): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	260	0.0038	-40	c.-47 others(51): Show c.-4789_-4750delGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGA AGGAAG		UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding				4597		chr5	TogoVar
UNKL_chr16_1358205_1419704	1401158	AGGGCTGG others(33): Show AGGGCTGGGGGCTCTGCTGGGCATCCTGGTGGGTGCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02004.hp2 HG02145.hp1 others(3): Show HG01515.hp1 HG02004.hp2 HG02145.hp1 HG02683.hp2 HG04204.hp2 HG04228.hp2	a0003 a0006 a0003 a0006	a0003c0004 a0006c0025 a0003c0004 a0006c0025	a0003c0004t0003 a0006c0025t0003 a0003c0004t0003 a0006c0025t0003	a0003c0004t0003g0175 a0003c0004t0003g0211 a0003c0004t0003g0212 others(3): Show a0003c0004t0003g0175 a0003c0004t0003g0211 a0003c0004t0003g0212 a0003c0004t0003g0214 a0003c0004t0003g0215 a0006c0025t0003g0213	6	320	0.0188	-40	c.598 others(55): Show c.598+370_598+409delACCAGGCACCCACCAGGATGCCCAGCAGAG CCCCCAGCCC		UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14					chr16	TogoVar
UPF1_chr19_18826959_18873230	18829592	CATATATA others(33): Show CATATATATATATACATATATATATATGTATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03139.hp2 HG02572.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0165 a0001c0007t0001g0164 a0001c0001t0001g0165 a0001c0007t0001g0164	2	372	0.0054	-40	c.-26 others(51): Show c.-2617_-2578delATATATATATATACATATATATATATGTATATAT ATATAT		UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding				2366		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35665861	TCCGAAGT others(33): Show TCCGAAGTGGATTTTTTGTTTGTTTGGTTTTGGAGACAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	418	0.0024	-40	c.-68 others(49): Show c.-681_-642delCCGAAGTGGATTTTTTGTTTGTTTGGTTTTGGAGAC AGGG		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding				655		chr19	TogoVar
UPP2_chr2_158096876_158141154	158104959	AGGGAAGG others(33): Show AGGGAAGGGAAGGGAAGGGAAGAGAAGGGAAGGGAAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02056.hp1 HG02165.hp2 others(3): Show HG00558.hp2 HG02056.hp1 HG02165.hp2 NA18964.hp1 NA18986.hp1 NA19066.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0010 a0002c0002t0003 a0002c0002t0010	a0002c0002t0003g0005 a0002c0002t0003g0015 a0002c0002t0010g0060 a0002c0002t0003g0005 a0002c0002t0003g0015 a0002c0002t0010g0060	6	339	0.0177	-40	c.63- others(55): Show c.63-1135_63-1096delAGGGAAGGGAAGGGAAGAGAAGGGAAGGGA AGGGAGGGGA		UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6				INFO_REALIGN_3_PRIME	chr2	TogoVar
URI1_chr19_29937239_30021612	29944140	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA20129.hp2 NA20300.hp1 HG02109.hp1 NA20129.hp2 NA20300.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0005 a0003c0003 a0004c0005	a0003c0003t0009 a0004c0005t0001 a0003c0003t0009 a0004c0005t0001	a0003c0003t0009g0037 a0004c0005t0001g0013 a0004c0005t0001g0014 a0003c0003t0009g0037 a0004c0005t0001g0013 a0004c0005t0001g0014	3	40	0.0750	-40	c.117 others(57): Show c.117+1490_117+1529delTATATATATATATATATATATATATATA TATATATATATA		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10				INFO_REALIGN_3_PRIME	chr19	TogoVar
URI1_chr19_29937239_30021612	29985119	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp2 HG02280.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0252 a0001c0001t0001g0131 a0001c0001t0001g0252	2	3	0.6667	-40	c.153 others(53): Show c.153-85_153-46delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA		URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10				INFO_REALIGN_3_PRIME	chr19	TogoVar
UROC1_chr3_126476166_126522773	126476192	GGCGCGGG others(33): Show GGCGCGGGGTCGGGGGGCGGGGCGCGGGGTCGGGGGGCGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0006	1	378	0.0026	-40	c.61 others(51): Show c.6113_*6152delTCCGCCCCCCGACCCCGCGCCCCGCCCCCCGACC CCGCGC		UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding				4973		chr3	TogoVar
USH2A_chr1_215617891_216428448	216377779	AAAAGAAA others(33): Show AAAAGAAAGAAAGAGAAGGAAAGAAATAAAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01071.hp2 HG02055.hp2 others(5): Show HG00140.hp2 HG01071.hp2 HG02055.hp2 HG02451.hp1 HG02615.hp2 HG02647.hp1 HG02717.hp2 HG06807.hp2	a0005 a0007 a0018 others(5): Show a0005 a0007 a0018 a0021 a0028 a0029 a0034 a0059	a0005c0029 a0007c0036 a0018c0027 others(5): Show a0005c0029 a0007c0036 a0018c0027 a0021c0030 a0028c0005 a0029c0043 a0034c0045 a0059c0025	a0005c0029t0007 a0007c0036t0001 a0018c0027t0002 others(5): Show a0005c0029t0007 a0007c0036t0001 a0018c0027t0002 a0021c0030t0001 a0028c0005t0002 a0029c0043t0002 a0034c0045t0006 a0059c0025t0001	a0005c0029t0007g0043 a0007c0036t0001g0027 a0018c0027t0002g0042 others(5): Show a0005c0029t0007g0043 a0007c0036t0001g0027 a0018c0027t0002g0042 a0021c0030t0001g0048 a0028c0005t0002g0022 a0029c0043t0002g0047 a0034c0045t0006g0028 a0059c0025t0001g0039	8	55	0.1455	-40	c.652 others(59): Show c.652-12734_652-12695delCTTTCTTTCTTTTTATTTCTTTCCTT CTCTTTCTTTCTTT		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71					chr1	TogoVar
USP3_chr15_63499593_63599633	63547722	TAGAGAGA others(33): Show TAGAGAGAGAGAGAGAGAGAGAGGGAGGGAGGGAGGGAGGG	T T	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0065	1	194	0.0052	-40	c.285 others(57): Show c.285-5970_285-5931delGGAGGGAGGGAGGGAGGGAGAGAGAGAG AGAGAGAGAGAG		USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr15	TogoVar
USP40_chr2_233470526_233571782	233567306	AGAGTATA others(33): Show AGAGTATAGCTATATTATAGCTATATAACCTTATATAAGAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	322	0.0031	-40	c.-68 others(49): Show c.-682_-643delATCTTATATAAGGTTATATAGCTATAATATAGCTAT ACTC		USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding				525		chr2	TogoVar
UST_chr6_148742030_149081990	148780062	TACAAATA others(33): Show TACAAATACATGTGTGTGTATATATATACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	208	0.0048	-40	c.247 others(59): Show c.247+32429_247+32468delAATACATGTGTGTGTATATATATACA CACACACACACACA		UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr6	TogoVar
UST_chr6_148742030_149081990	148866141	TATTTAGT others(33): Show TATTTAGTGATAACTAAATATATTTAGTGATAACTAAATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(55): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00673.hp2 HG01069.hp1 HG01081.hp1 HG01109.hp1 HG01358.hp2 HG01884.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18948.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18970.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0003t0001 a0001c0003t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0021	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0023 others(55): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0002g0033 a0001c0001t0002g0044 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0150 a0001c0001t0002g0156 a0001c0001t0003g0065 a0001c0001t0003g0088 a0001c0001t0003g0140 a0001c0001t0003g0161 a0001c0001t0004g0026 a0001c0001t0004g0083 a0001c0001t0004g0137 a0001c0001t0004g0157 a0001c0001t0004g0176 a0001c0001t0005g0051 a0001c0001t0005g0063 a0001c0001t0005g0089 a0001c0001t0005g0163 a0001c0001t0006g0196 a0001c0001t0007g0007 a0001c0001t0007g0117 a0001c0001t0009g0045 a0001c0001t0010g0011 a0001c0001t0020g0208 a0001c0003t0001g0107 a0001c0003t0002g0149 a0002c0002t0001g0105 a0002c0002t0001g0182 a0002c0002t0003g0145 a0002c0002t0007g0104 a0002c0002t0021g0010	58	208	0.2788	-40	c.248 others(59): Show c.248-20827_248-20788delTATATTTAGTGATAACTAAATAAATT TAGTGATAACTAAA		UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7				INFO_REALIGN_3_PRIME	chr6	TogoVar
UTP14A_chrX_129901164_129934752	129925899	TCTCGCTT others(33): Show TCTCGCTTGTTTCTTCCCAGGAAGATGAAGAGGAGAGAAAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19078.hp2 NA19078.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0127 a0008c0007t0003g0127	1	271	0.0037	-40	c.175 others(52): Show c.1750-18_1771delTCGCTTGTTTCTTCCCAGGAAGATGAAGAGGAG AGAAACC	p.Glu others(5): Show p.Glu584fs	UTP14A	ENSG00000156697.13	transcript	ENST00000394422.8	protein_coding	13/15	1750/2316	584/771		INFO_REALIGN_3_PRIME	chrX	TogoVar
UTP20_chr12_101275105_101391618	101340937	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0159 a0003c0006t0001g0159	1	7	0.1429	-40	c.410 others(57): Show c.4101+343_4101+382delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	32/61				INFO_REALIGN_3_PRIME	chr12	TogoVar
VANGL2_chr1_160395564_160433670	160397389	AAATCCTT others(33): Show AAATCCTTTTGTGAGCATTGAGAGTAGCCTTTCTGGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	388	0.0026	-40	c.-36 others(51): Show c.-3670_-3631delAATCCTTTTGTGAGCATTGAGAGTAGCCTTTCTG GGAAGG		VANGL2	ENSG00000162738.7	transcript	ENST00000368061.3	protein_coding				3174		chr1	TogoVar
VDAC1_chr5_133966871_134009975	133971061	CGGGAGGC others(33): Show CGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00621.hp2 others(46): Show HG00280.hp2 HG00558.hp1 HG00621.hp2 HG00642.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01884.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02572.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 NA18747.hp2 NA18940.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18965.hp2 NA18967.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp1 NA19005.hp2 NA19062.hp2 NA19063.hp2 NA19074.hp2 NA19079.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(41): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0074 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0289 a0001c0001t0002g0024 a0001c0001t0002g0037 a0001c0001t0002g0145 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0308 a0001c0001t0004g0186 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190	49	388	0.1263	-40	c.16 others(51): Show c.1670_*1709delCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAG CCTCCC		VDAC1	ENSG00000213585.11	transcript	ENST00000265333.8	protein_coding				809		chr5	TogoVar
VEPH1_chr3_157254742_157508416	157378306	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0095 a0003c0002t0001g0095	1	6	0.1667	-40	c.112 others(59): Show c.1127+2810_1127+2849delTATATATATATATATATATATATATA TATATATATATATA		VEPH1	ENSG00000197415.12	transcript	ENST00000362010.7	protein_coding	7/13					chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573276	AAAGAAAG others(33): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02257.hp1 HG02809.hp1 others(3): Show HG01346.hp2 HG02257.hp1 HG02809.hp1 HG02965.hp1 NA18522.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0002c0003t0001	a0001c0001t0002g0303 a0001c0001t0002g0360 a0001c0001t0006g0120 others(3): Show a0001c0001t0002g0303 a0001c0001t0002g0360 a0001c0001t0006g0120 a0001c0001t0012g0118 a0001c0001t0013g0105 a0002c0003t0001g0078	6	386	0.0155	-40	c.273 others(57): Show c.273-8297_273-8258delCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4					chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573308	GAAGGAAG others(33): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02602.hp1 HG01943.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0375 a0001c0001t0011g0289 a0001c0001t0002g0375 a0001c0001t0011g0289	2	357	0.0056	-40	c.273 others(57): Show c.273-8329_273-8290delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTCCTTCCTT		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4					chr3	TogoVar
VGLL4_chr3_11551069_11648915	11573312	GAAGGAAG others(33): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA18948.hp2 NA18970.hp1 HG01099.hp1 NA18948.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0184 a0001c0001t0002g0310 a0001c0002t0002g0236 a0001c0001t0001g0184 a0001c0001t0002g0310 a0001c0002t0002g0236	3	380	0.0079	-40	c.273 others(57): Show c.273-8333_273-8294delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTCCTT		VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4					chr3	TogoVar

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