Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UEVLD_chr11_18524609_18593734	18560138	C C	CACACACA others(41): Show CACACACACACACACACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	400	0.0025	48	c.613 others(65): Show c.613-1809_613-1808insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02273.hp2 HG02293.hp2 others(5): Show HG01891.hp2 HG02273.hp2 HG02293.hp2 NA18612.hp1 NA18947.hp2 NA18963.hp1 NA18965.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0002 a0001c0003t0066 a0001c0004t0001	a0001c0001t0001g0084 a0001c0001t0001g0120 a0001c0001t0004g0054 others(5): Show a0001c0001t0001g0084 a0001c0001t0001g0120 a0001c0001t0004g0054 a0001c0003t0002g0201 a0001c0003t0002g0209 a0001c0003t0002g0242 a0001c0003t0066g0196 a0001c0004t0001g0007	8	332	0.0241	48	c.522 others(63): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATATATATATATATATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT2_chr13_95796580_96058401	95924393	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0257 a0003c0003t0001g0257	1	332	0.0030	48	c.229 others(67): Show c.2295+1286_2295+1287insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	20/38			chr13	TogoVar
UGT3A2_chr5_36030021_36071882	36068934	G G	GGGAAGGA others(41): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03540.hp1 HG01109.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0220 a0001c0001t0004g0054 a0001c0001t0004g0220	2	410	0.0049	48	c.-21 others(59): Show c.-2146_-2145insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2053		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068938	G G	GGGAGGGA others(41): Show GGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA21309.hp1 HG02976.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0058 a0001c0001t0003g0057 a0001c0001t0001g0058 a0001c0001t0003g0057	2	410	0.0049	48	c.-21 others(59): Show c.-2150_-2149insTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCCTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2057		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36068950	A A	AGGAAGGA others(41): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	410	0.0024	48	c.-21 others(59): Show c.-2162_-2161insGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCC	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		2069		chr5	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(41): Show GATATATATATATATATATATGATATATATATATATATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01934.hp1 others(12): Show HG00597.hp2 HG00621.hp2 HG01934.hp1 HG02015.hp1 HG02056.hp1 HG02132.hp2 HG02165.hp1 HG02523.hp2 NA18939.hp2 NA18948.hp2 NA18953.hp2 NA18991.hp1 NA18993.hp2 NA19001.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0040 a0002c0002t0002g0001 a0002c0002t0002g0004 others(11): Show a0001c0001t0001g0040 a0002c0002t0002g0001 a0002c0002t0002g0004 a0002c0002t0002g0014 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0149 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0161 a0002c0002t0002g0179 a0002c0002t0002g0230	15	280	0.0536	48	c.-12 others(59): Show c.-1223_-1222insATATATATATATATATATATGATATATATATATA TATATATGATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UGT8_chr4_114593807_114683225	114597754	G G	GATATATA others(41): Show GATATATATATATATATATGATATATATATATATATATATATGATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0014	1	280	0.0036	48	c.-12 others(59): Show c.-1223_-1222insATATATATATATATATATGATATATATATATATA TATATATGATATAT	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding		1052		chr4	TogoVar
UMAD1_chr7_7635752_7884223	7678803	T T	TATATATT others(41): Show TATATATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTTATAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02976.hp1 HG02109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0080 a0001c0001t0079 a0001c0001t0080	a0001c0001t0079g0150 a0001c0001t0080g0147 a0001c0001t0079g0150 a0001c0001t0080g0147	2	250	0.0080	48	c.82+ others(63): Show c.82+5354_82+5355insATTTATGTATTTAGTTTATAAATATTTATA TATTTAGTTTATAAATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMPS_chr3_124725452_124754273	124751346	G G	GGAGAGGG others(41): Show GGAGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGAGGGACAGGGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02965.hp1 HG03139.hp1 others(2): Show HG00639.hp1 HG02965.hp1 HG03139.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0085 a0001c0001t0024 a0001c0001t0085	a0001c0001t0024g0028 a0001c0001t0024g0117 a0001c0001t0024g0120 others(1): Show a0001c0001t0024g0028 a0001c0001t0024g0117 a0001c0001t0024g0120 a0001c0001t0085g0028	5	434	0.0115	48	c.72 others(59): Show c.7262_*7263insGAGAGGGAGAGGGAGAGGGAGAGGGACAGGGAGA GGGACAGGGAGAGT	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		2074		chr3	TogoVar
UNC13C_chr15_53973441_54633605	54455205	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0026 a0001c0040t0026	a0001c0040t0026g0027 a0001c0040t0026g0027	1	158	0.0063	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTAT ATATATATATATATATATATATAT	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(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0110 a0001c0003t0009g0110	1	158	0.0063	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTATATATATATATATATATATAT	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(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	158	0.0063	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTATATATATATATAT	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(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0053 a0002c0016t0004g0053	1	158	0.0063	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTATATATATATAT	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(41): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0120 a0001c0003t0005g0120	1	158	0.0063	48	c.493 others(69): Show c.4934-39402_4934-39401insCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176830571	T T	TGTGTGTG others(41): Show TGTGTGTGCGCGTGCTGGTGTGTGCATGCTGGTGTGTGTGTGCGCTGGC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02976.hp1 HG03098.hp1 HG02630.hp1 HG02976.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0001t0014g0061 a0001c0001t0005g0008 a0001c0001t0005g0023 a0001c0001t0014g0061	3	268	0.0112	48	c.70+ others(65): Show c.70+19758_70+19759insCGCGTGCTGGTGTGTGCATGCTGGTGTG TGTGTGCGCTGGCGTGTGTG	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5C_chr4_95157504_95553973	95256699	A A	AATATATA others(41): Show AATATATATATATATATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02155.hp2 NA18961.hp2 HG00544.hp1 HG02155.hp2 NA18961.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0034 a0002c0025 a0001c0003 a0001c0034 a0002c0025	a0001c0003t0001 a0001c0034t0030 a0002c0025t0001 a0001c0003t0001 a0001c0034t0030 a0002c0025t0001	a0001c0003t0001g0064 a0001c0034t0030g0092 a0002c0025t0001g0143 a0001c0003t0001g0064 a0001c0034t0030g0092 a0002c0025t0001g0143	3	204	0.0147	48	c.595 others(65): Show c.595-6033_595-6032insATATATATATATATATATATATATATAT ATTTATATATATATATATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95256714	A A	ATAAATAT others(41): Show ATAAATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0002 a0002c0025t0002	a0002c0025t0002g0151 a0002c0025t0002g0151	1	204	0.0049	48	c.595 others(65): Show c.595-6048_595-6047insCATATATATATATATATATATATATATA TATATATATATATATATTTA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UPF1_chr19_18826959_18873230	18829608	T T	TATATATA others(41): Show TATATATATGTATATATATATATACATATATATATGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	394	0.0025	48	c.-26 others(59): Show c.-2602_-2601insATATATATGTATATATATATATACATATATATAT GTATATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2350		chr19	TogoVar
UPK1A_chr19_35661517_35683481	35665557	G G	GTGCCCCC others(41): Show GTGCCCCCTCTCATTTTCTAGCACGTTTCTTCAAACACAAGCCGTGTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	420	0.0024	48	c.-98 others(57): Show c.-986_-985insTGCCCCCTCTCATTTTCTAGCACGTTTCTTCAAACA CAAGCCGTGTTC	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		959		chr19	TogoVar
UPK3BL1_chr7_102632025_102647791	102646957	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAGAAGAAAGAAAGAAAGAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0108 a0001c0001t0008g0108	1	140	0.0071	48	c.-42 others(59): Show c.-4217_-4216insCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTCTTC TTTCTTTCTTTCTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4167		chr7	TogoVar
URAD_chr13_27972717_27993693	27990950	G G	GGTATAGG others(41): Show GGTATAGGTGTAGGTATATGTATATGTATATGTATAGGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02559.hp1 others(2): Show HG00639.hp2 HG02109.hp2 HG02559.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0055 a0001c0001t0002g0015 a0001c0001t0002g0035 a0001c0001t0002g0055	5	428	0.0117	48	c.-23 others(59): Show c.-2314_-2313insATATACATATACCTATACATATACATATACATAT ACCTACACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2258		chr13	TogoVar
URAD_chr13_27972717_27993693	27990950	G G	GGTATAGG others(41): Show GGTATAGGTGTAGGTATATGTATATTTATATGTATAGGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG02258.hp1 HG02723.hp2 others(8): Show HG01496.hp1 HG02258.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0052 a0001c0001t0002g0053 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054	11	428	0.0257	48	c.-23 others(59): Show c.-2314_-2313insATATACATATACCTATACATATAAATATACATAT ACCTACACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2258		chr13	TogoVar
URAD_chr13_27972717_27993693	27991211	A A	ATAGGTGT others(41): Show ATAGGTGTAGGTATAGGTATAGGTATATGTATATGTATATGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	428	0.0023	48	c.-25 others(59): Show c.-2575_-2574insCACCTATACATATACATATACATATACCTATACC TATACCTACACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2519		chr13	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(19): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG01099.hp1 HG01243.hp2 HG01891.hp2 HG02056.hp1 HG02145.hp1 HG02258.hp2 HG02523.hp1 HG02615.hp2 HG02698.hp2 HG02896.hp2 HG02922.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2 NA18968.hp1 NA18969.hp1 NA18987.hp2 NA19077.hp1 NA19086.hp2	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0010 a0026	a0001c0001 a0001c0002 a0001c0054 others(6): Show a0001c0001 a0001c0002 a0001c0054 a0002c0004 a0002c0005 a0008c0020 a0008c0059 a0010c0021 a0026c0052	a0001c0001t0001 a0001c0002t0003 a0001c0002t0021 others(10): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0021 a0001c0002t0035 a0001c0002t0037 a0001c0054t0018 a0002c0004t0002 a0002c0005t0002 a0002c0005t0007 a0008c0020t0018 a0008c0059t0003 a0010c0021t0002 a0026c0052t0002	a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0121 others(19): Show a0001c0001t0001g0099 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0002t0003g0321 a0001c0002t0021g0187 a0001c0002t0021g0213 a0001c0002t0035g0299 a0001c0002t0037g0307 a0001c0054t0018g0079 a0002c0004t0002g0268 a0002c0005t0002g0072 a0002c0005t0002g0269 a0002c0005t0007g0271 a0008c0020t0018g0080 a0008c0020t0018g0228 a0008c0059t0003g0087 a0010c0021t0002g0073 a0010c0021t0002g0300 a0026c0052t0002g0257	22	338	0.0651	48	c.496 others(65): Show c.4960+794_4960+795insTGTCTTGTTTTTTTAACTTGAGTTTGGG GATTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(41): Show CAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01943.hp1 HG01981.hp2 others(14): Show HG01081.hp2 HG01943.hp1 HG01981.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02572.hp1 HG02572.hp2 NA18963.hp2 NA18993.hp2 NA19004.hp2 NA19057.hp1 NA19066.hp1 NA19067.hp1 NA19087.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0001 a0001c0002 a0001c0010 others(6): Show a0001c0001 a0001c0002 a0001c0010 a0001c0040 a0001c0048 a0002c0004 a0002c0005 a0005c0006 a0007c0012	a0001c0001t0001 a0001c0002t0003 a0001c0010t0014 others(6): Show a0001c0001t0001 a0001c0002t0003 a0001c0010t0014 a0001c0040t0001 a0001c0048t0017 a0002c0004t0002 a0002c0005t0002 a0005c0006t0001 a0007c0012t0002	a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 others(14): Show a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0002t0003g0220 a0001c0002t0003g0250 a0001c0010t0014g0289 a0001c0040t0001g0323 a0001c0048t0017g0071 a0002c0004t0002g0203 a0002c0005t0002g0261 a0005c0006t0001g0152 a0007c0012t0002g0234 a0007c0012t0002g0235 a0007c0012t0002g0236 a0007c0012t0002g0237	17	338	0.0503	48	c.496 others(65): Show c.4960+794_4960+795insTTGTCTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USH2A_chr1_215617891_216428448	215743386	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0060 a0060	a0060c0014 a0060c0014	a0060c0014t0003 a0060c0014t0003	a0060c0014t0003g0006 a0060c0014t0003g0006	1	74	0.0135	48	c.113 others(65): Show c.11390-52_11390-51insCACACACACACATATATATATATATATA TATATATATATATATATATA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	58/71			chr1	TogoVar
USP38_chr4_143179917_143228874	143184836	A A	AGGCGGAG others(41): Show AGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0123 a0001c0001t0003g0004 a0001c0001t0003g0123	3	258	0.0116	48	c.-61 others(57): Show c.-615_-614insGGCGGAGGGGCGGAGGGGCGGAGGGGCGGAGGGGCG GAGGGGCGGAGG	USP38	ENSG00000170185.11	transcript	ENST00000307017.9	protein_coding		80		chr4	TogoVar
USP50_chr15_50495562_50551666	50537886	G G	GGGAAGGG others(41): Show GGGAAGGGAGGGGAGGGGAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	384	0.0026	48	c.803 others(63): Show c.803+822_803+823insTCCCTTCCCTTCCCTTCCCTTCCCCTCCCC TCCCCTCCCCTCCCTTCC	USP50	ENSG00000170236.16	transcript	ENST00000532404.6	protein_coding	5/6			chr15	TogoVar
UTRN_chr6_144280335_144858034	144732227	T T	TATACATA others(41): Show TATACATATATATATATACATATATATATATATACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02559.hp2 HG02055.hp2 HG02257.hp2 HG02559.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0010 a0005c0014 a0001c0001 a0001c0010 a0005c0014	a0001c0001t0027 a0001c0010t0002 a0005c0014t0002 a0001c0001t0027 a0001c0010t0002 a0005c0014t0002	a0001c0001t0027g0095 a0001c0010t0002g0059 a0005c0014t0002g0014 a0001c0001t0027g0095 a0001c0010t0002g0059 a0005c0014t0002g0014	3	128	0.0234	48	c.793 others(67): Show c.7939+1744_7939+1745insCATATATATATATACATATATATATA TATACATATATATATATACATA	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	54/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
UTS2_chr1_7842612_7858065	7857100	A A	AAAGGAAG others(41): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	468	0.0021	48	c.-40 others(59): Show c.-4098_-4097insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTT	UTS2	ENSG00000049247.14	transcript	ENST00000361696.10	protein_coding		4036		chr1	TogoVar
UXT_chrX_47646796_47664180	47660105	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCGTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	290	0.0035	48	c.-10 others(59): Show c.-1001_-1000insAAGGAAGGAAGGAAGGAAGGAAGGAAGGACGGAA GGAAGGAAGGAAGG	UXT	ENSG00000126756.12	transcript	ENST00000333119.8	protein_coding		926		chrX	TogoVar
VAMP1_chr12_6457237_6475677	6465388	A A	ATATATAT others(41): Show ATATATATATAAATGTATATATATGTATATATATAAATGTATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0076 a0001c0001t0004g0076	1	446	0.0022	48	c.289 others(63): Show c.289-448_289-447insCATATATATACATTTATATATATACATATA TATACATTTATATATATA	VAMP1	ENSG00000139190.17	transcript	ENST00000396308.4	protein_coding	3/4			chr12	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(41): Show CCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	306	0.0033	48	c.205 others(65): Show c.205-6028_205-6027insCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTTCTT others(41): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	306	0.0033	48	c.205 others(65): Show c.205-6017_205-5970dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV1_chr19_6767708_6862361	6816536	G G	GACACACA others(41): Show GACACACACACATGCAGATACACACAGACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	306	0.0033	48	c.205 others(65): Show c.205-4155_205-4154insTGCAGATACACACAGACACACACACACA CACACACACACACACACACA	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133827216	G G	GCTACCGC others(41): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0056 a0001c0006t0002g0056	1	200	0.0050	48	c.449 others(65): Show c.449+7055_449+7056insGTGGTGATGCCCGTGCTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827250	C C	CACGGGCA others(41): Show CACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0052 a0002c0001t0002g0052	1	200	0.0050	48	c.449 others(65): Show c.449+7021_449+7022insACTCAGTGGTCAGCCTCAGTGGGCACAG CAGTAGCTGGCGATGCCCGT	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827298	T T	TGGGGGCA others(41): Show TGGGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0146 a0002c0005t0001g0146	1	200	0.0050	48	c.449 others(65): Show c.449+6973_449+6974insGCTCAGTGGTCAGCCTCAGTGGGCGCAG CGGTAGCTGGCGATGCCCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827300	G G	GGGGCATC others(41): Show GGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0125 a0001c0004t0014g0126 a0001c0004t0014g0125 a0001c0004t0014g0126	2	200	0.0100	48	c.449 others(65): Show c.449+6971_449+6972insGTGCTCAGTGGTCAGCCTCAGTGGGCGC AGCGGTAGCTGGCGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827552	G G	GCTACCGC others(41): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	200	0.0050	48	c.449 others(65): Show c.449+6719_449+6720insGTGGTGATGCCCCCACTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827692	G G	GCCAACTA others(41): Show GCCAACTACCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0192 a0001c0006t0009g0192	1	200	0.0050	48	c.449 others(65): Show c.449+6579_449+6580insTGATGCCCGTGCTCAGTGGTCAGCCTCA GTGGGCACAGCGGTAGTTGG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827696	G G	GCTACCGC others(41): Show GCTACCGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0146 a0002c0005t0001g0146	1	200	0.0050	48	c.449 others(65): Show c.449+6575_449+6576insGTGGTGATGCCCCCACTCAGTGGTCAGC CTCAGTGGGCACAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827936	C C	CCTACCGC others(41): Show CCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0080 a0001c0012t0007g0080	1	200	0.0050	48	c.449 others(65): Show c.449+6335_449+6336insCTGGCGATGCCCGTGCTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828170	T T	TCACCACC others(41): Show TCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCAC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0057 a0001c0006t0002g0057	1	200	0.0050	48	c.449 others(65): Show c.449+6101_449+6102insGTGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCGCAGCGGTAGGTGGTG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828186	T T	TGCCCACT others(41): Show TGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0080 a0001c0012t0007g0080	1	200	0.0050	48	c.449 others(65): Show c.449+6085_449+6086insGCAGCGGTAGGTGGTGATGCCCGTGCTC AGTGGTCAGCCCCAGTGGGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828229	C C	CGCTGCGC others(41): Show CGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0066 a0002c0025t0001g0066	1	200	0.0050	48	c.449 others(65): Show c.449+6042_449+6043insAGTAGCTGGCGATGCCCGTGCTCAGTGG TCAGCCCCAGTGGGCGCAGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828339	G G	GGGCTGAC others(41): Show GGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02818.hp1 HG02257.hp2 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0017 a0001c0002t0012 a0001c0002t0017	a0001c0002t0012g0026 a0001c0002t0017g0044 a0001c0002t0012g0026 a0001c0002t0017g0044	2	200	0.0100	48	c.449 others(65): Show c.449+5932_449+5933insTCAGTGGGCGCAGCGGTAGCTGGCGATG CCCGTGCTCAGTGGTCAGCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828356	C C	CGGGCATC others(41): Show CGGGCATCGCCAGCTACCGCTGTGCCCACTGAGGCTGACCACTGAGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0192 a0001c0006t0009g0192	1	200	0.0050	48	c.449 others(65): Show c.449+5915_449+5916insCCACTCAGTGGTCAGCCTCAGTGGGCAC AGCGGTAGCTGGCGATGCCC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828464	G G	GCTACCGC others(41): Show GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0081 a0001c0006t0002g0081	1	200	0.0050	48	c.449 others(65): Show c.449+5807_449+5808insGTGGTGATGCCCCCACTCAGTGGTCAGC CCCAGTGGGCGCAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar

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