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
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATTT others(12): Show ATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02074.hp1 HG01069.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0331 a0001c0001t0002g0325 a0001c0001t0001g0331 a0001c0001t0002g0325	2	15	0.1333	19	c.63+ others(36): Show c.63+16161_63+16162insATATTTTTTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATTTTT others(12): Show ATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	14	0.0714	19	c.63+ others(36): Show c.63+16161_63+16162insATTTTTTTTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L3_chr22_21562714_21629034	21612643	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	145	0.0069	19	c.310 others(36): Show c.310+1610_310+1628dupTTTTTTTTTTTTTTTTTTT	UBE2L3	ENSG00000185651.16	transcript	ENST00000342192.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
UBE2N_chr12_93400684_93446947	93406275	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG01952.hp1 HG02615.hp1 HG01256.hp2 HG01952.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0065 a0001c0001t0039 a0001c0001t0065	a0001c0001t0039g0205 a0001c0001t0039g0231 a0001c0001t0065g0249 a0001c0001t0039g0205 a0001c0001t0039g0231 a0001c0001t0065g0249	3	59	0.0508	19	c.37 others(30): Show c.3745_*3763dupTTTTTTTTTTTTTTTTTTT	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	4/4	3763		chr12	TogoVar
UBE2R2_chr9_33812160_33925399	33884235	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0095 a0001c0001t0003g0095	1	360	0.0028	19	c.178 others(36): Show c.178-2646_178-2645insCTCTCTCTCTCTCTCTCTC	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4			chr9	TogoVar
UBE2T_chr1_202326657_202346936	202332907	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	15	0.0667	19	c.468 others(33): Show c.468+84_468+102dupTTTTTTTTTTTTTTTTTTT	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding	6/6			chr1	TogoVar
UBE2V1_chr20_50076124_50118150	50079375	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0045 a0001c0001t0007g0045	1	138	0.0072	19	c.33 others(30): Show c.3392_*3393insAAAAAAAAAAAAAAAAAAA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		1748		chr20	TogoVar
UBE2V1_chr20_50076124_50118150	50094219	T T	TATGCATT others(12): Show TATGCATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp2 HG03195.hp2 others(4): Show HG01891.hp2 HG02015.hp2 HG03195.hp2 HG03704.hp2 HG03834.hp1 NA18951.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0151 a0001c0001t0001g0174 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0151 a0001c0001t0001g0174 a0001c0001t0001g0304 a0001c0001t0002g0058	7	267	0.0262	19	c.171 others(36): Show c.171+2434_171+2452dupTATATATTATATAATGCAT	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding	2/3			chr20	TogoVar
UBE2V1_chr20_50076124_50118150	50094219	T T	TATGCATT others(12): Show TATGCATTATATATTATATA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	261	0.0038	19	c.171 others(36): Show c.171+2452_171+2453insTATATAATATATAATGCAT	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding	2/3			chr20	TogoVar
UBE2V1_chr20_50076124_50118150	50094251	A A	ATATATAA others(12): Show ATATATAATGCATTATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19007.hp1 NA18982.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0007 a0001c0002t0009	a0001c0002t0007g0043 a0001c0002t0009g0042 a0001c0002t0007g0043 a0001c0002t0009g0042	2	394	0.0051	19	c.171 others(36): Show c.171+2420_171+2421insATATATAATGCATTATATA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding	2/3			chr20	TogoVar
UBE2V1_chr20_50076124_50118150	50100002	A A	AGGGGAGG others(12): Show AGGGGAGGGTCACTTGAGCC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	396	0.0025	19	c.23- others(34): Show c.23-3201_23-3183dupGGCTCAAGTGACCCTCCCC	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding	1/3			chr20	TogoVar
UBE3A_chr15_25328728_25444024	25332812	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03471.hp2 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0036 a0001c0001t0005 a0001c0001t0036	a0001c0001t0005g0143 a0001c0001t0036g0274 a0001c0001t0005g0143 a0001c0001t0036g0274	2	94	0.0213	19	c.63 others(30): Show c.6324_*6325insAAAAAAAAAAAAAAAAAAA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding		915		chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CCTATATA others(12): Show CCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0058 a0001c0001t0018g0058	1	40	0.0250	19	c.-16 others(38): Show c.-165+8461_-165+8462insTATATATATATATATATAG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3C_chr7_157133926_157274370	157211193	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0089 a0001c0001t0021g0089	1	320	0.0031	19	c.180 others(38): Show c.1809+3259_1809+3260insAGAGAGAGAGAGAGAGAGG	UBE3C	ENSG00000009335.19	transcript	ENST00000348165.10	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBE3D_chr6_82887390_83070841	83001639	C C	CTACAAGG others(12): Show CTACAAGGAAAAAGAGATTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG03453.hp2 HG01891.hp2 HG02109.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0006g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0006g0137	3	184	0.0163	19	c.101 others(40): Show c.1010+17333_1010+17334insCAATCTCTTTTTCCTTGTA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	8/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	83046672	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03453.hp1 HG02647.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0005 a0002c0002t0002 a0001c0003t0005 a0002c0002t0002	a0001c0003t0005g0183 a0002c0002t0002g0152 a0001c0003t0005g0183 a0002c0002t0002g0152	2	39	0.0513	19	c.366 others(36): Show c.366-2014_366-2013insCCCCCCCCCCCCCCCCCCC	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	3/9			chr6	TogoVar
UBE4B_chr1_10027958_10186239	10118868	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	51	0.0196	19	c.133 others(36): Show c.1339-630_1339-612dupTTTTTTTTTTTTTTTTTTT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10161999	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0022 a0001c0003t0002g0022	1	209	0.0048	19	c.319 others(36): Show c.3198+729_3198+730insTTTTTTTTTTTTTTTTTTT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10183142	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 NA19043.hp2 HG02451.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0021 a0001c0003t0002g0022	2	46	0.0435	19	c.31 others(30): Show c.3186_*3187insTTTTTTTTTTTTTTTTTTT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		1904		chr1	TogoVar
UBN2_chr7_139226237_139313236	139289414	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18940.hp1 NA18946.hp2 others(3): Show HG02027.hp1 NA18940.hp1 NA18946.hp2 NA18977.hp2 NA18983.hp2 NA19004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 others(2): Show a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0019 a0001c0002t0054	a0001c0002t0004g0096 a0001c0002t0004g0101 a0001c0002t0008g0092 others(3): Show a0001c0002t0004g0096 a0001c0002t0004g0101 a0001c0002t0008g0092 a0001c0002t0011g0100 a0001c0002t0019g0117 a0001c0002t0054g0098	6	188	0.0319	19	c.367 others(38): Show c.3670-3802_3670-3801insTTTTTTTTTTTTTTTTTTT	UBN2	ENSG00000157741.15	transcript	ENST00000473989.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBR2_chr6_42559029_42698505	42578958	A A	AACAACAC others(12): Show AACAACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0011 a0003c0008t0011	a0003c0008t0011g0340 a0003c0008t0011g0340	1	329	0.0030	19	c.338 others(36): Show c.338+4968_338+4969insACACACACACACACACACA	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	2/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR2_chr6_42559029_42698505	42619453	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0211 a0002c0006t0004g0211	1	54	0.0185	19	c.128 others(38): Show c.1281+1947_1281+1948insATATATATATATATATTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR2_chr6_42559029_42698505	42619453	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0088 a0002c0002t0002g0088	1	54	0.0185	19	c.128 others(38): Show c.1281+1947_1281+1948insATATATATTTTTTTTTTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR2_chr6_42559029_42698505	42619453	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0083 a0002c0002t0002g0083	1	54	0.0185	19	c.128 others(38): Show c.1281+1947_1281+1948insATATATTTTTTTTTTTTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR2_chr6_42559029_42698505	42632069	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0009 a0004c0010t0009	a0004c0010t0009g0004 a0004c0010t0009g0004	1	222	0.0045	19	c.128 others(36): Show c.1282-482_1282-481insATATATATATATATATATA	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	169826106	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02698.hp2 HG03654.hp1 others(3): Show HG02015.hp1 HG02698.hp2 HG03654.hp1 HG03831.hp2 HG04228.hp1 NA19003.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0192 a0001c0006t0008g0193 a0001c0006t0008g0194 others(3): Show a0001c0006t0008g0192 a0001c0006t0008g0193 a0001c0006t0008g0194 a0001c0006t0008g0196 a0001c0006t0008g0197 a0001c0006t0008g0198	6	38	0.1579	19	c.-14 others(30): Show c.-1402_-1401insAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding		1347		chr2	TogoVar
UBR3_chr2_169822454_170089131	169831128	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0001 a0001c0016t0002g0001	1	267	0.0037	19	c.545 others(36): Show c.545+3076_545+3077insATATATATATATATATATA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38			chr2	TogoVar
UBR3_chr2_169822454_170089131	169983252	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02257.hp1 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0014 a0001c0006t0014 a0001c0002t0014 a0001c0006t0014	a0001c0002t0014g0185 a0001c0006t0014g0189 a0001c0002t0014g0185 a0001c0006t0014g0189	2	96	0.0208	19	c.363 others(38): Show c.3635-3389_3635-3371dupTTTTTTTTTTTTTTTTTTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170001912	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19079.hp1 HG02145.hp2 NA19079.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0295 a0002c0004t0004g0314 a0002c0004t0004g0295 a0002c0004t0004g0314	2	113	0.0177	19	c.402 others(36): Show c.4029+510_4029+528dupAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0025 a0025	a0025c0048 a0025c0048	a0025c0048t0001 a0025c0048t0001	a0025c0048t0001g0214 a0025c0048t0001g0214	1	155	0.0065	19	c.139 others(38): Show c.1394+1875_1394+1876insATATATATTTTTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01978.hp2 HG01358.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0250 a0001c0001t0001g0251	2	156	0.0128	19	c.139 others(38): Show c.1394+1875_1394+1876insATATATATATTTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01943.hp2 HG02280.hp1 others(4): Show HG01255.hp2 HG01943.hp2 HG02280.hp1 HG02293.hp2 HG03130.hp2 NA19000.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0039 a0001c0040 a0001c0001 a0001c0039 a0001c0040	a0001c0001t0001 a0001c0039t0001 a0001c0040t0001 a0001c0001t0001 a0001c0039t0001 a0001c0040t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 others(4): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0039t0001g0188 a0001c0040t0001g0187	7	161	0.0435	19	c.139 others(38): Show c.1394+1875_1394+1876insATATATATATATTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	155	0.0065	19	c.139 others(38): Show c.1394+1875_1394+1876insATATATATATATATTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR5_chr8_102247273_102417700	102283341	C C	CGGGGGGG others(12): Show CGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02083.hp2 HG02965.hp2 others(1): Show HG01433.hp2 HG02083.hp2 HG02965.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0173 a0001c0001t0001g0234 a0001c0001t0001g0294 others(1): Show a0001c0001t0001g0173 a0001c0001t0001g0234 a0001c0001t0001g0294 a0001c0017t0001g0107	4	161	0.0248	19	c.569 others(38): Show c.5696+1785_5696+1786insCCCCCCCCCCCCCCCCCCC	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	40/58			chr8	TogoVar
UBR5_chr8_102247273_102417700	102387719	A A	ATGGAAGG others(12): Show ATGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18522.hp2 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0202 a0001c0001t0004g0320 a0001c0001t0001g0202 a0001c0001t0004g0320	2	248	0.0081	19	c.62+ others(36): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCA	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UBXN2B_chr8_58406361_58456501	58446779	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA18964.hp2 HG01256.hp2 HG01258.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0214	3	51	0.0588	19	c.834 others(34): Show c.834-592_834-574dupTTTTTTTTTTTTTTTTTTT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBXN6_chr19_4440006_4462794	4451136	A A	AACCTCCA others(12): Show AACCTCCACCTCCCAGGTTC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	418	0.0024	19	c.441 others(36): Show c.441+1209_441+1227dupGAACCTGGGAGGTGGAGGT	UBXN6	ENSG00000167671.12	transcript	ENST00000301281.11	protein_coding	4/10			chr19	TogoVar
UBXN7_chr3_196342662_196437427	196375042	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0140 a0001c0001t0028g0140	1	270	0.0037	19	c.469 others(36): Show c.469-3001_469-3000insTTCCTTCCTTCCTTCCTTC	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UBXN7_chr3_196342662_196437427	196401274	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	158	0.0063	19	c.289 others(36): Show c.289+1677_289+1678insATATATTTTTTTTTTTTTT	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	3/10			chr3	TogoVar
UCHL5_chr1_193007254_193064360	193043151	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	29	0.0345	19	c.246 others(36): Show c.246+6576_246+6594dupTTTTTTTTTTTTTTTTTTT	UCHL5	ENSG00000116750.14	transcript	ENST00000367454.6	protein_coding	3/10			chr1	TogoVar
UCHL5_chr1_193007254_193064360	193043151	T T	TTAAAAAA others(12): Show TTAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0226 a0001c0001t0008g0226	1	29	0.0345	19	c.246 others(36): Show c.246+6594_246+6595insTTTTTTTTTTTTTTTTTTA	UCHL5	ENSG00000116750.14	transcript	ENST00000367454.6	protein_coding	3/10			chr1	TogoVar
UCKL1_chr20_63934829_63961416	63948557	A A	AGGCGTGT others(12): Show AGGCGTGTGTGAGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG04199.hp1 HG01884.hp2 HG02258.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0313 a0001c0001t0001g0337 a0001c0001t0001g0058 a0001c0001t0001g0313 a0001c0001t0001g0337	3	351	0.0085	19	c.114 others(36): Show c.114-1933_114-1915dupCCTCCCTCTCACACACGCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
UFD1_chr22_19444911_19484193	19454362	A A	AGGTGGGA others(12): Show AGGTGGGAGGTAACTGAGTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	400	0.0025	19	c.849 others(34): Show c.849+368_849+386dupGACTCAGTTACCTCCCACC	UFD1	ENSG00000070010.19	transcript	ENST00000263202.15	protein_coding	11/11			chr22	TogoVar
UFSP1_chr7_100883721_100894715	100887010	A A	AGGGCAGG others(12): Show AGGGCAGGAGCTGAACGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	404	0.0025	19	c.18 others(30): Show c.1814_*1832dupGAGCGTTCAGCTCCTGCCC	UFSP1	ENSG00000176125.7	transcript	ENST00000388761.4	protein_coding		1710		chr7	TogoVar
UFSP2_chr4_185394537_185430964	185418047	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	23	0.0435	19	c.333 others(34): Show c.333+393_333+394insGTGTGTGTGTGTGTGTGTG	UFSP2	ENSG00000109775.11	transcript	ENST00000264689.11	protein_coding	4/11			chr4	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01952.hp2 HG02004.hp2 others(11): Show HG01175.hp1 HG01952.hp2 HG02004.hp2 HG02273.hp1 HG02630.hp1 HG03017.hp1 HG03492.hp1 HG03654.hp1 HG03710.hp1 NA18987.hp1 NA18991.hp1 NA19012.hp1 NA19058.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 others(3): Show a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0012 a0001c0002t0023 a0001c0007t0002	a0001c0002t0002g0009 a0001c0002t0002g0031 a0001c0002t0002g0034 others(10): Show a0001c0002t0002g0009 a0001c0002t0002g0031 a0001c0002t0002g0034 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0002g0121 a0001c0002t0006g0208 a0001c0002t0009g0032 a0001c0002t0012g0099 a0001c0002t0023g0072 a0001c0007t0002g0053	14	50	0.2800	19	c.241 others(36): Show c.241-1039_241-1021dupTTTTTTTTTTTTTTTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT2_chr13_95796580_96058401	95807716	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03704.hp2 NA18949.hp1 others(5): Show HG02155.hp2 HG03704.hp2 NA18949.hp1 NA18999.hp2 NA19012.hp1 NA19068.hp2 NA19070.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0305 a0003c0003t0001g0248 a0003c0003t0001g0250 others(5): Show a0001c0001t0001g0305 a0003c0003t0001g0248 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0260 a0003c0003t0001g0266 a0003c0003t0001g0270	8	98	0.0816	19	c.452 others(38): Show c.4529-5923_4529-5905dupAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	38/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	95924393	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18957.hp1 NA18975.hp1 others(3): Show NA18949.hp1 NA18957.hp1 NA18975.hp1 NA18986.hp2 NA18988.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0244 a0003c0003t0001g0245 others(3): Show a0003c0003t0001g0019 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0252 a0003c0003t0001g0274 a0003c0003t0001g0282	6	34	0.1765	19	c.229 others(38): Show c.2295+1268_2295+1286dupAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	20/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	96054210	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp2 HG01515.hp2 others(27): Show HG00609.hp2 HG00673.hp2 HG01515.hp2 HG01952.hp2 HG01981.hp2 HG02056.hp2 HG02083.hp2 HG02602.hp2 HG03017.hp1 HG03041.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG06807.hp1 NA18612.hp2 NA18952.hp1 NA18953.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18975.hp1 NA18981.hp1 NA18983.hp1 NA19000.hp2 NA19012.hp1 NA19054.hp2 NA19063.hp1 NA19081.hp2 NA19090.hp2 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0009 a0001c0001 a0003c0003 a0003c0009	a0001c0001t0001 a0003c0003t0001 a0003c0009t0001 others(1): Show a0001c0001t0001 a0003c0003t0001 a0003c0009t0001 a0003c0009t0002	a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0035 others(27): Show a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0236 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0245 a0003c0003t0001g0248 a0003c0003t0001g0256 a0003c0003t0001g0262 a0003c0003t0001g0265 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0274 a0003c0003t0001g0280 a0003c0003t0001g0283 a0003c0009t0001g0311 a0003c0009t0002g0002 a0003c0009t0002g0003	30	31	0.9677	19	c.-89 others(28): Show c.-899_-898insTTTTTTTTTTTTTTTTTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding		810		chr13	TogoVar
UGT1A8_chr2_233612633_233778300	233661680	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	283	0.0035	19	c.855 others(38): Show c.855+43120_855+43121insCTTTCTTTCTTTCTTTCTT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar

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