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	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
UMODL1_chr21_42066317_42147996	42137509	G G	GAAACCCC others(33): Show GAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02717.hp1 HG02717.hp1	a0085 a0085	a0085c0100 a0085c0100	a0085c0100t0001 a0085c0100t0001	a0085c0100t0001g0149 a0085c0100t0001g0149	1	398	0.0025	40	c.384 others(49): Show c.3846_3847insAAACCCCATCTCTACTAAAAATACAAAAAATTAGCC GGGA	p.Leu others(6): Show p.Leu1283fs	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	22/23	3847/4879	3847/3957	1283/1318			chr21	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0053 a0001c0003t0001g0053	1	316	0.0032	40	c.118 others(57): Show c.1182+623_1182+624insAAGGAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGG		UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMOD_chr16_20328051_20357715	20345502	C C	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0152 a0003c0007t0004g0152	1	316	0.0032	40	c.118 others(57): Show c.1182+623_1182+624insAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGG		UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10						chr16	TogoVar
UMPS_chr3_124725452_124754273	124750642	C C	CGGGCGGA others(33): Show CGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0030 a0001c0001t0004g0030	1	432	0.0023	40	c.65 others(51): Show c.6558_*6559insGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCG GCTGCT		UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding					1370		chr3	TogoVar
UNC13A_chr19_17596336_17693354	17631184	T T	TTCCTTCC others(33): Show TTCCTTCCCTCCCTCCCTCCCTCCTTTCCTTCCTTCCTCCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0272 a0001c0004t0004g0272	1	230	0.0043	40	c.342 others(57): Show c.3429-435_3429-434insGGGAGGAAGGAAGGAAAGGAGGGAGGGA GGGAGGGAAGGA		UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43						chr19	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0031 a0031	a0031c0043 a0031c0043	a0031c0043t0005 a0031c0043t0005	a0031c0043t0005g0153 a0031c0043t0005g0153	1	28	0.0357	40	c.152 others(55): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT		UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39					INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0026 a0001c0003t0010g0026	1	54	0.0185	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT ATATATATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0005 a0004c0009t0005	a0004c0009t0005g0132 a0004c0009t0005g0132	1	54	0.0185	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTATATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0029 a0001c0007t0001g0029	1	54	0.0185	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0065 a0001c0003t0003g0065	1	54	0.0185	40	c.493 others(61): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATAT		UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32					INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC45B_chr17_35142817_35194343	35175060	G G	GAAGAAAG others(33): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02280.hp1 HG02083.hp1 HG02280.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0003 a0001c0009 a0002c0003	a0001c0009t0003 a0002c0003t0006 a0001c0009t0003 a0002c0003t0006	a0001c0009t0003g0152 a0002c0003t0006g0106 a0001c0009t0003g0152 a0002c0003t0006g0106	2	245	0.0082	40	c.195 others(57): Show c.1958+719_1958+720insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA		UNC45B	ENSG00000141161.12	transcript	ENST00000394570.7	protein_coding	14/19					INFO_REALIGN_3_PRIME	chr17	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(33): Show AATATATATATATATATAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00597.hp1 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0017 a0002c0002 a0002c0017	a0002c0002t0002 a0002c0017t0005 a0002c0002t0002 a0002c0017t0005	a0002c0002t0002g0062 a0002c0017t0005g0086 a0002c0002t0002g0062 a0002c0017t0005g0086	2	144	0.0139	40	c.595 others(57): Show c.595-6033_595-6032insATATATATATATATATATATATTTATAT ATATATATATAT		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATAAATAT others(33): Show ATAAATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0023 a0001c0005t0001g0023	1	188	0.0053	40	c.595 others(57): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATATTTA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATATAAAT others(33): Show ATATAAATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0176	1	188	0.0053	40	c.595 others(57): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATTTATA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15						chr4	TogoVar
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	7	0.1429	40	c.467 others(57): Show c.467-7560_467-7559insTATATATATATATATATATATATATATA TATATATATATA		UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(33): Show TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	195	0.0051	40	c.42 others(51): Show c.4269_*4270insTTTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTT		UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding					3823		chr11	TogoVar
UNK_chr17_75779806_75830799	75803126	C C	CGGTGGCT others(33): Show CGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCCA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18947.hp2 NA18945.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0147 a0001c0001t0001g0015 a0001c0001t0001g0147	2	349	0.0057	40	c.105 others(57): Show c.105-6596_105-6595insCAGGTGGCTCACACCTGTAATCCCAGCA CTTTGGGAGGCC		UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr17	TogoVar
UPK1A_chr19_35661517_35683481	35670500	C C	CCTCCCCT others(33): Show CCTCCCCTCCCCTCGCCTCCTCTCCCCTCCCCTCGCCTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02723.hp1 NA18944.hp1 others(3): Show HG00438.hp2 HG02723.hp1 NA18944.hp1 NA18950.hp1 NA18968.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0192 a0001c0001t0002g0017 a0001c0001t0002g0225 a0001c0001t0001g0192 a0001c0001t0002g0017 a0001c0001t0002g0225	6	332	0.0181	40	c.285 others(57): Show c.285+1879_285+1880insGCCTCCTCTCCCCTCCCCTCGCCTCCTC TCCCCTCCCCTC		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
UPK1A_chr19_35661517_35683481	35680685	A A	AATAAATA others(33): Show AATAAATAAATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA18971.hp1 NA19084.hp1 NA18946.hp1 NA18971.hp1 NA19084.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0004 a0003c0005t0002g0048 a0003c0005t0002g0004 a0003c0005t0002g0048	3	394	0.0076	40	c.26 others(51): Show c.2666_*2667insATAAATAAATATATATATATATATATATATATAT ATATAT		UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding					2205		chr19	TogoVar
URGCP_chr7_43870913_43911596	43894678	C C	CAAAATCA others(33): Show CAAAATCATCTGTGCCTGGCCAAAAAATTTCTTAAAAATCA	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0187 a0001c0003t0003g0187	1	402	0.0025	40	c.15- others(55): Show c.15-6863_15-6862insTGATTTTTAAGAAATTTTTTGGCCAGGCAC AGATGATTTT		URGCP	ENSG00000106608.17	transcript	ENST00000453200.6	protein_coding	1/5						chr7	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0001 a0002c0072t0001	a0002c0072t0001g0050 a0002c0072t0001g0050	1	24	0.0417	40	c.113 others(57): Show c.11390-52_11390-51insCACATATATATATATATATATATATATA TATATATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0028 a0028	a0028c0005 a0028c0005	a0028c0005t0002 a0028c0005t0002	a0028c0005t0002g0022 a0028c0005t0002g0022	1	24	0.0417	40	c.113 others(57): Show c.11390-52_11390-51insCACACACACACATATATATATATATATA TATATATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0049 a0049	a0049c0054 a0049c0054	a0049c0054t0003 a0049c0054t0003	a0049c0054t0003g0071 a0049c0054t0003g0071	1	24	0.0417	40	c.113 others(57): Show c.11390-52_11390-51insCACACACACACACATATATATATATATA TATATATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215836508	A A	ATATATAT others(33): Show ATATATATTATATATATATATATAATATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0020 a0020	a0020c0004 a0020c0004	a0020c0004t0011 a0020c0004t0011	a0020c0004t0011g0020 a0020c0004t0011g0020	1	69	0.0145	40	c.937 others(59): Show c.9371+1482_9371+1483insATATATATAATATATATTATATATAT ATATATAATATATA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71						chr1	TogoVar
USH2A_chr1_215617891_216428448	215912493	G G	GTGTATAT others(33): Show GTGTATATATATATATATGTATATATATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02698.hp2 HG02922.hp1 others(1): Show HG02572.hp2 HG02698.hp2 HG02922.hp1 HG03139.hp1	a0026 a0032 a0038 others(1): Show a0026 a0032 a0038 a0044	a0026c0018 a0032c0070 a0038c0022 others(1): Show a0026c0018 a0032c0070 a0038c0022 a0044c0016	a0026c0018t0003 a0032c0070t0001 a0038c0022t0001 others(1): Show a0026c0018t0003 a0032c0070t0001 a0038c0022t0001 a0044c0016t0001	a0026c0018t0003g0012 a0032c0070t0001g0052 a0038c0022t0001g0002 others(1): Show a0026c0018t0003g0012 a0032c0070t0001g0052 a0038c0022t0001g0002 a0044c0016t0001g0009	4	68	0.0588	40	c.730 others(61): Show c.7301-11589_7301-11588insTATATATACACATATATATATACA TATATATATATATACA		USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	38/71						chr1	TogoVar
USP10_chr16_84695000_84784922	84749327	G G	GTTTCATT others(33): Show GTTTCATTAAAAGATCTGTTGATGTGGGTTATAATAGAGTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0390 a0001c0006t0001g0390	1	428	0.0023	40	c.119 others(59): Show c.1192+3656_1192+3695dupTTCATTAAAAGATCTGTTGATGTGGG TTATAATAGAGTTT		USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179775321	A A	ATGTAGTG others(33): Show ATGTAGTGTGTGTGGGGTTGTGGGGGAGAGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0008 a0001c0001t0038g0008	1	298	0.0034	40	c.241 others(59): Show c.2414-6418_2414-6417insTGTAGTGTGTGTGGGGTTGTGGGGGA GAGGGGGGGGGGGG		USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	19/20						chr3	TogoVar
USP22_chr17_20994596_21048011	21042357	A A	AAGGAGGG others(33): Show AAGGAGGGGGAGGGGACAGAGAGGAGGGGGAGGGGACAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0255 a0001c0002t0006g0255	1	305	0.0033	40	c.171 others(55): Show c.171+268_171+307dupCTCTGTCCCCTCCCCCTCCTCTCTGTCCCC TCCCCCTCCT		USP22	ENSG00000124422.12	transcript	ENST00000261497.9	protein_coding	1/12						chr17	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0051 a0001c0002t0002g0051	1	43	0.0233	40	c.-77 others(59): Show c.-77+25840_-77+25841insAAAAAAAATATATATATATATATATA TATATATATATATA		USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5						chrX	TogoVar
USP38_chr4_143179917_143228874	143184836	A A	AGGCGGAG others(33): Show AGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG02976.hp1 HG03139.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0010 a0001c0001 a0004c0010	a0001c0001t0003 a0004c0010t0013 a0001c0001t0003 a0004c0010t0013	a0001c0001t0003g0004 a0004c0010t0013g0118 a0001c0001t0003g0004 a0004c0010t0013g0118	2	124	0.0161	40	c.-61 others(49): Show c.-615_-614insGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCG GAGG		USP38	ENSG00000170185.11	transcript	ENST00000307017.9	protein_coding					80		chr4	TogoVar
USP3_chr15_63499593_63599633	63580641	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0120 a0001c0001t0005g0120	1	204	0.0049	40	c.109 others(59): Show c.1096+6248_1096+6249insATATATATATATATATATATATATAT ATATATATATATAT		USP3	ENSG00000140455.17	transcript	ENST00000380324.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr15	TogoVar
USP46_chr4_52585960_52664301	52632918	G G	GAGAAAGA others(33): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp2 NA18946.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0053 a0001c0001t0001g0056	2	121	0.0165	40	c.37- others(55): Show c.37-1814_37-1775dupTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8						chr4	TogoVar
USP49_chr6_41784896_41900375	41798282	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	381	0.0026	40	c.187 others(57): Show c.1876+441_1876+442insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA		USP49	ENSG00000164663.15	transcript	ENST00000682992.1	protein_coding	7/7						chr6	TogoVar
USP50_chr15_50495562_50551666	50525580	A A	ATATGTAT others(33): Show ATATGTATATATGTATATGTATATATGTATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0373 a0001c0001t0001g0373	1	381	0.0026	40	c.936 others(57): Show c.936+4216_936+4217insCATATATACATATACATATATACATATA CATATATACATA		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	6/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537891	G G	GAGGGAAG others(33): Show GAGGGAAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0372 a0001c0001t0001g0372	1	380	0.0026	40	c.803 others(55): Show c.803+817_803+818insTCCCTTCCCTTCCCTTCCCTCCCCTCCCCT CCCCTTCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537896	G G	GAGGGGAG others(33): Show GAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02040.hp1 NA18939.hp1 others(3): Show HG00558.hp1 HG02040.hp1 NA18939.hp1 NA18961.hp1 NA18983.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097	6	287	0.0209	40	c.803 others(55): Show c.803+812_803+813insTCCCTTCCCTTCCCTTCCCTTCCCTCCCCT CCCCTCCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
USP50_chr15_50495562_50551666	50537906	G G	GAGGGGAG others(33): Show GAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02630.hp2 HG03669.hp1 HG01975.hp2 HG02630.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0023 a0001c0001t0001g0031 a0001c0001t0001g0052	3	40	0.0750	40	c.803 others(55): Show c.803+802_803+803insTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT TCCCTCCCCT		USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6						chr15	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	AGATATAT others(33): Show AGATATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0321 a0001c0004t0005g0321	1	232	0.0043	40	c.-94 others(57): Show c.-941-410_-941-409insGATATATATATATATATATATGTGTGTG TGTGTGTGTGTG		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18						chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(33): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0024 a0010c0011t0024	a0010c0011t0024g0214 a0010c0011t0024g0214	1	232	0.0043	40	c.-94 others(57): Show c.-941-409_-941-408insATATATATATATATATATATATGTGTGT GTGTGTGTGTGT		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(33): Show ATATATATATATATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03540.hp1 HG03486.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0034 a0001c0001t0024 a0001c0001t0034	a0001c0001t0024g0216 a0001c0001t0034g0215 a0001c0001t0024g0216 a0001c0001t0034g0215	2	233	0.0086	40	c.-94 others(57): Show c.-941-409_-941-408insATATATATATATATATATGTGTGTGTGT GTGTGTGTGTGT		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119213660	A A	ATATATAT others(33): Show ATATATATATATATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0317 a0001c0003t0004g0317	1	232	0.0043	40	c.-94 others(57): Show c.-941-409_-941-408insATATATATATATGTGTGTGTGTGTGTGT GTGTGTGTGTGT		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
USP53_chr4_119207713_119300518	119227256	T T	TATACACA others(33): Show TATACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0023 a0003c0009t0023	a0003c0009t0023g0222 a0003c0009t0023g0222	1	26	0.0385	40	c.-66 others(59): Show c.-664-8033_-664-8032insTACACACACACACACACACACACACA CACACACACACACA		USP53	ENSG00000145390.12	transcript	ENST00000692078.1	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
USP7_chr16_8887097_8968906	8897726	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	27	0.0370	40	c.271 others(57): Show c.2719-628_2719-627insATATATATATATATATATATATATATAT ATATATATTTTT		USP7	ENSG00000187555.17	transcript	ENST00000344836.9	protein_coding	25/30						chr16	TogoVar
USP8_chr15_50419405_50519421	50450462	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0153 a0002c0003t0153	a0002c0003t0153g0083 a0002c0003t0153g0083	1	117	0.0085	40	c.335 others(57): Show c.335+1001_335+1002insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr15	TogoVar
UTP20_chr12_101275105_101391618	101310577	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0278 a0004c0009t0001g0278	1	89	0.0112	40	c.223 others(57): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA		UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61					INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144360094	C C	CCCCTCCC others(33): Show CCCCTCCCCTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19079.hp1 NA18956.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0021 a0001c0002t0004 a0001c0002t0021	a0001c0002t0004g0076 a0001c0002t0021g0050 a0001c0002t0004g0076 a0001c0002t0021g0050	2	120	0.0167	40	c.80- others(57): Show c.80-43015_80-43014insTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTCCCCTCCCCT		UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	2/74					INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2_chr1_7842612_7858065	7857100	A A	AAAGGAAG others(33): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	359	0.0028	40	c.-40 others(51): Show c.-4098_-4097insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT		UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding					4036		chr1	TogoVar
VAC14_chr16_70682439_70806158	70761016	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0002 a0001c0005t0006g0002	1	303	0.0033	40	c.137 others(59): Show c.1371+1523_1371+1524insGCACACACACACACACACACACACAC ACACACACACACAC		VAC14	ENSG00000103043.15	transcript	ENST00000261776.10	protein_coding	12/18						chr16	TogoVar
VAMP2_chr17_8154149_8167948	8163058	G G	GGCGGGGC others(33): Show GGCGGGGCGCTGCGGGGCGCTGCGGGGCGCTGCGGGGCGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	407	0.0025	40	c.-18 others(49): Show c.-180_-179insAGCGCCCCGCAGCGCCCCGCAGCGCCCCGCAGCGCC CCGC		VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding					111		chr17	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	27	0.0370	40	c.205 others(57): Show c.205-6028_205-6027insCCTTCCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar

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