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
UMAD1_chr7_7635752_7884223	7637658	T T	TAGTTATA others(24): Show TAGTTATATAAAACTGTATGTTATGTAATTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02572.hp2 others(1): Show HG02257.hp1 HG02559.hp1 HG02572.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 others(1): Show a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0054	a0001c0001t0026g0230 a0001c0001t0027g0232 a0001c0001t0036g0231 others(1): Show a0001c0001t0026g0230 a0001c0001t0027g0232 a0001c0001t0036g0231 a0001c0001t0054g0233	4	139	0.0288	31	c.-32 others(42): Show c.-3227_-3226insAGTTATATAAAACTGTATGTTATGTAATTAC	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding		3093		chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678519	A A	AATATATT others(24): Show AATATATTTATATACTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG03491.hp2 NA18747.hp2 others(1): Show HG01168.hp2 HG03491.hp2 NA18747.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0002t0001	a0001c0001t0002g0116 a0001c0001t0011g0189 a0001c0001t0018g0090 others(1): Show a0001c0001t0002g0116 a0001c0001t0011g0189 a0001c0001t0018g0090 a0001c0002t0001g0196	4	242	0.0165	31	c.82+ others(46): Show c.82+5173_82+5203dupCTTAATTTATAGATAAATATATATTTATAT A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679402	T T	TAATATAT others(24): Show TAATATATATTTATATATTTAATTTATAGATA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01192.hp2 others(1): Show HG01069.hp1 HG01167.hp1 HG01192.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0016 a0001c0001t0046 others(1): Show a0001c0001t0015 a0001c0001t0016 a0001c0001t0046 a0001c0001t0050	a0001c0001t0015g0137 a0001c0001t0016g0125 a0001c0001t0046g0135 others(1): Show a0001c0001t0015g0137 a0001c0001t0016g0125 a0001c0001t0046g0135 a0001c0001t0050g0136	4	29	0.1379	31	c.82+ others(46): Show c.82+5996_82+6026dupATTTAATTTATAGATAAATATATATTTATA T	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679474	T T	TTATATTT others(24): Show TTATATTTAATTTATAGATAAATATATATTTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp1 HG02004.hp2 others(15): Show HG00544.hp2 HG01069.hp1 HG02004.hp2 HG02056.hp1 HG02109.hp2 HG02135.hp1 HG02735.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG04199.hp2 NA18747.hp1 NA18949.hp1 NA18986.hp1 NA19005.hp2 NA19012.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(8): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0025 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0083	a0001c0001t0004g0075 a0001c0001t0004g0091 a0001c0001t0004g0101 others(15): Show a0001c0001t0004g0075 a0001c0001t0004g0091 a0001c0001t0004g0101 a0001c0001t0006g0043 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0096 a0001c0001t0006g0131 a0001c0001t0009g0098 a0001c0001t0010g0092 a0001c0001t0010g0100 a0001c0001t0017g0133 a0001c0001t0018g0090 a0001c0001t0025g0095 a0001c0001t0050g0136 a0001c0001t0051g0128 a0001c0001t0052g0134 a0001c0001t0083g0130	18	50	0.3600	31	c.82+ others(46): Show c.82+6236_82+6266dupTTATATATTTAATTTATAGATAAATATATA T	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7679483	A A	ATTTATAG others(24): Show ATTTATAGATAAATATATATTTATATATTTAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02559.hp2 others(6): Show HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0024 a0001c0001t0026 others(5): Show a0001c0001t0009 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0055	a0001c0001t0009g0123 a0001c0001t0024g0236 a0001c0001t0026g0230 others(6): Show a0001c0001t0009g0123 a0001c0001t0024g0236 a0001c0001t0026g0230 a0001c0001t0027g0232 a0001c0001t0027g0234 a0001c0001t0035g0228 a0001c0001t0036g0231 a0001c0001t0037g0229 a0001c0001t0055g0237	9	242	0.0372	31	c.82+ others(46): Show c.82+6060_82+6061insGTTTATAGATAAATATATATTTATATATTT A	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0057 a0001c0003t0002g0057	1	333	0.0030	31	c.118 others(48): Show c.1182+725_1182+726insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG03098.hp1 HG00140.hp1 HG00140.hp2 HG03098.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0002 a0008c0012 a0001c0001 a0003c0002 a0008c0012	a0001c0001t0001 a0003c0002t0001 a0008c0012t0001 a0001c0001t0001 a0003c0002t0001 a0008c0012t0001	a0001c0001t0001g0134 a0003c0002t0001g0119 a0008c0012t0001g0104 a0001c0001t0001g0134 a0003c0002t0001g0119 a0008c0012t0001g0104	3	30	0.1000	31	c.152 others(46): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54186836	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0001 a0015c0031t0001	a0015c0031t0001g0051 a0015c0031t0001g0051	1	127	0.0079	31	c.307 others(52): Show c.3071+43152_3071+43153insTATATATATATATATATATATATA TATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54552943	A A	ATATATAT others(24): Show ATATATATTGTATTCTATATTACAATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02258.hp2 HG02486.hp1 others(18): Show HG01361.hp2 HG02258.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp2 NA19030.hp2 NA20752.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0011 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0020 a0003c0038 a0007c0010 a0011c0024 a0012c0025 a0014c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0018 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0002t0051 a0001c0003t0009 a0001c0003t0042 a0001c0004t0018 a0001c0004t0055 a0001c0020t0008 a0003c0038t0011 a0007c0010t0002 a0011c0024t0028 a0012c0025t0018 a0014c0030t0014	a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0144 others(18): Show a0001c0001t0001g0004 a0001c0001t0002g0067 a0001c0001t0002g0144 a0001c0001t0011g0077 a0001c0001t0011g0150 a0001c0001t0018g0033 a0001c0001t0029g0090 a0001c0002t0001g0018 a0001c0002t0002g0063 a0001c0002t0022g0092 a0001c0002t0051g0157 a0001c0003t0009g0119 a0001c0003t0042g0107 a0001c0004t0018g0096 a0001c0004t0055g0095 a0001c0020t0008g0085 a0003c0038t0011g0002 a0007c0010t0002g0139 a0011c0024t0028g0017 a0012c0025t0018g0030 a0014c0030t0014g0084	21	138	0.1522	31	c.587 others(50): Show c.5878-2458_5878-2428dupTTATATATTGTATTCTATATTACAAT ATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54553114	A A	ATATTACA others(24): Show ATATTACAATATATAATATATATTGTATTCTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0010 a0010	a0010c0039 a0010c0039	a0010c0039t0001 a0010c0039t0001	a0010c0039t0001g0037 a0010c0039t0001g0037	1	132	0.0076	31	c.587 others(50): Show c.5878-2297_5878-2296insTTGTATTCTGTATTACAATATATAAT ATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54553135	A A	AGTATTCT others(24): Show AGTATTCTATATTACAATATATATTATATACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG02602.hp1 others(10): Show HG01884.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp1 HG03225.hp2 HG04228.hp2 NA19030.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0013	a0001c0001 a0001c0002 a0001c0014 others(5): Show a0001c0001 a0001c0002 a0001c0014 a0001c0020 a0001c0021 a0003c0037 a0007c0010 a0013c0022	a0001c0001t0002 a0001c0001t0047 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0047 a0001c0002t0001 a0001c0002t0024 a0001c0014t0002 a0001c0020t0008 a0001c0021t0013 a0003c0037t0008 a0007c0010t0002 a0007c0010t0035 a0013c0022t0010	a0001c0001t0002g0144 a0001c0001t0047g0131 a0001c0002t0001g0018 others(10): Show a0001c0001t0002g0144 a0001c0001t0047g0131 a0001c0002t0001g0018 a0001c0002t0024g0116 a0001c0014t0002g0076 a0001c0014t0002g0087 a0001c0020t0008g0085 a0001c0021t0013g0038 a0001c0021t0013g0039 a0003c0037t0008g0094 a0007c0010t0002g0139 a0007c0010t0035g0140 a0013c0022t0010g0061	13	144	0.0903	31	c.587 others(50): Show c.5878-2236_5878-2206dupCTGTATTCTATATTACAATATATATT ATATA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5C_chr4_95157504_95553973	95197061	T T	TATATTTA others(24): Show TATATTTATATATTATATTTATGTAATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp2 HG03540.hp2 others(1): Show HG02615.hp2 HG03130.hp2 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0011 a0001c0014 a0001c0011 a0001c0014	a0001c0011t0003 a0001c0011t0004 a0001c0014t0004 a0001c0011t0003 a0001c0011t0004 a0001c0014t0004	a0001c0011t0003g0182 a0001c0011t0004g0066 a0001c0011t0004g0085 others(1): Show a0001c0011t0003g0182 a0001c0011t0004g0066 a0001c0011t0004g0085 a0001c0014t0004g0084	4	195	0.0205	31	c.213 others(50): Show c.2136+5669_2136+5670insTATATATTACATAAATATAATATATA AATAT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35305585	C C	CTTTCTCT others(24): Show CTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	64	0.0156	31	c.103 others(50): Show c.103+69703_103+69704insCTTTCTTTCTTTCTTTCTTTCTTTCA TTTCT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35305589	C C	CTCTTTCT others(24): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	64	0.0156	31	c.103 others(50): Show c.103+69703_103+69704insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	104	0.0096	31	c.-26 others(42): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UPK1A_chr19_35661517_35683481	35682802	G G	GACAGAGG others(24): Show GACAGAGGTTGTGGTGAGCCAAGATCTCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	418	0.0024	31	c.47 others(42): Show c.4783_*4784insACAGAGGTTGTGGTGAGCCAAGATCTCGCCA	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		4322		chr19	TogoVar
UQCC1_chr20_35297578_35416973	35338890	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	103	0.0097	31	c.573 others(48): Show c.573+8273_573+8274insATATATATATATATATATATATATATAT ATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	25	0.0400	31	c.573 others(48): Show c.573+8271_573+8272insATATATATATATATATATATATATATAT TTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02818.hp1 others(1): Show HG01167.hp1 HG01884.hp1 HG02818.hp1 HG02896.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003	a0001c0001t0002g0242 a0001c0001t0002g0245 a0002c0002t0001g0041 others(1): Show a0001c0001t0002g0242 a0001c0001t0002g0245 a0002c0002t0001g0041 a0002c0002t0003g0034	4	28	0.1429	31	c.573 others(48): Show c.573+8271_573+8272insATATATATATATATATATATATATATAT ATT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0093	1	57	0.0175	31	c.24+ others(46): Show c.24+1235_24+1236insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0209 a0001c0002t0021g0209	1	18	0.0556	31	c.164 others(46): Show c.1640-37_1640-36insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
URM1_chr9_128366374_128397016	128391431	T T	TGGGGGGG others(24): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0123 a0001c0001t0019g0123	1	342	0.0029	31	c.17 others(42): Show c.1701_*1702insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	URM1	ENSG00000167118.11	transcript	ENST00000372853.9	protein_coding	5/5	1702	INFO_REALIGN_3_PRIME	chr9	TogoVar
UROC1_chr3_126476166_126522773	126515538	G G	GCCCAGCA others(24): Show GCCCAGCACCCACCACCTACCATCCCCCAACC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0244 a0001c0002t0001g0244	1	373	0.0027	31	c.126 others(48): Show c.126+2055_126+2056insGGTTGGGGGATGGTAGGTGGTGGGTGCT GGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
USF3_chr3_113643385_113701642	113669593	T T	TCCTCATT others(24): Show TCCTCATTATTAGAGGGATAATAATAATTATC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0254 a0004c0011t0005g0254	1	340	0.0029	31	c.159 others(46): Show c.159+497_159+527dupGATAATTATTATTATCCCTCTAATAATGAG G	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	5/6			chr3	TogoVar
USH2A_chr1_215617891_216428448	215836498	A A	ATAATATA others(24): Show ATAATATATATTATATATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0071 a0002c0071	a0002c0071t0001 a0002c0071t0001	a0002c0071t0001g0058 a0002c0071t0001g0058	1	48	0.0208	31	c.937 others(50): Show c.9371+1492_9371+1493insAATATATATTATATATATATAATATA TATTA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	47/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216231239	T T	TATATATA others(24): Show TATATATATATTATATATAATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0017 a0017	a0017c0008 a0017c0008	a0017c0008t0002 a0017c0008t0002	a0017c0008t0002g0021 a0017c0008t0002g0021	1	72	0.0139	31	c.299 others(48): Show c.2993+713_2993+714insTATATATATATATTATATATAATATATA TAT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	14/71			chr1	TogoVar
USP10_chr16_84695000_84784922	84720576	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18966.hp1 HG00558.hp2 NA18966.hp1	a0002 a0002	a0002c0001 a0002c0004 a0002c0001 a0002c0004	a0002c0001t0001 a0002c0004t0001 a0002c0001t0001 a0002c0004t0001	a0002c0001t0001g0086 a0002c0004t0001g0094 a0002c0001t0001g0086 a0002c0004t0001g0094	2	49	0.0408	31	c.22- others(48): Show c.22-12836_22-12835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	USP10	ENSG00000103194.16	transcript	ENST00000219473.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
USP13_chr3_179648040_179794401	179687659	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0056 a0001c0001t0035g0056	1	24	0.0417	31	c.295 others(48): Show c.295-2556_295-2555insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP14_chr18_153557_219629	171025	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18981.hp2 NA19083.hp2 NA18963.hp1 NA18981.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0103 a0001c0001t0001g0035 a0001c0001t0001g0088 a0001c0001t0001g0103	3	171	0.0175	31	c.195 others(48): Show c.195+4206_195+4207insTATATATATATATATATATATATATATA TAT	USP14	ENSG00000101557.15	transcript	ENST00000261601.8	protein_coding	3/15			chr18	TogoVar
USP15_chr12_62255404_62421389	62257162	A A	ATGTGTGT others(24): Show ATGTGTGTGTATATGTATATATACACAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01361.hp1 HG03130.hp1 HG01256.hp2 HG01361.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0063 a0001c0002t0001 a0001c0005t0021 a0001c0001t0063 a0001c0002t0001 a0001c0005t0021	a0001c0001t0063g0107 a0001c0002t0001g0032 a0001c0005t0021g0213 a0001c0001t0063g0107 a0001c0002t0001g0032 a0001c0005t0021g0213	3	243	0.0123	31	c.-32 others(42): Show c.-3253_-3252insTGTGTGTGTATATGTATATATACACAATGTG	USP15	ENSG00000135655.16	transcript	ENST00000280377.10	protein_coding		3241		chr12	TogoVar
USP20_chr9_129830458_129886828	129875859	G G	GGCTGAAG others(24): Show GGCTGAAGCACAGCTGAGTGTGTTGGCCATCT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(315): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0009 a0011	a0001c0001 a0001c0002 a0001c0005 others(26): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0027 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0002c0007 a0002c0034 a0002c0036 a0004c0010 a0005c0030 a0006c0037 a0007c0021 a0009c0019 a0011c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(41): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0005t0001 a0001c0006t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0002 a0001c0012t0001 a0001c0012t0003 a0001c0014t0002 a0001c0015t0009 a0001c0016t0002 a0001c0017t0001 a0001c0022t0005 a0001c0023t0001 a0001c0024t0002 a0001c0026t0002 a0001c0027t0001 a0001c0029t0001 a0001c0031t0001 a0001c0032t0002 a0001c0033t0002 a0002c0007t0004 a0002c0034t0004 a0002c0036t0004 a0004c0010t0001 a0005c0030t0001 a0006c0037t0001 a0007c0021t0001 a0009c0019t0002 a0011c0025t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(305): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0281 a0001c0001t0002g0292 a0001c0001t0002g0328 a0001c0001t0005g0070 a0001c0001t0005g0074 a0001c0001t0005g0081 a0001c0001t0005g0105 a0001c0001t0007g0078 a0001c0001t0007g0128 a0001c0001t0007g0143 a0001c0001t0007g0232 a0001c0001t0008g0065 a0001c0001t0008g0067 a0001c0001t0008g0210 a0001c0001t0009g0244 a0001c0001t0010g0072 a0001c0001t0010g0073 a0001c0001t0014g0271 a0001c0001t0015g0009 a0001c0001t0016g0068 a0001c0001t0017g0077 a0001c0001t0018g0120 a0001c0002t0001g0035 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0108 a0001c0002t0001g0186 a0001c0002t0001g0191 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0220 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0265 a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0284 a0001c0002t0002g0285 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0309 a0001c0002t0002g0310 a0001c0002t0002g0311 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0327 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0335 a0001c0002t0002g0336 a0001c0002t0002g0337 a0001c0002t0002g0338 a0001c0002t0002g0340 a0001c0002t0012g0278 a0001c0005t0001g0001 a0001c0005t0001g0094 a0001c0005t0001g0113 a0001c0005t0001g0129 a0001c0005t0001g0142 a0001c0006t0002g0251 a0001c0006t0002g0252 a0001c0006t0002g0255 a0001c0006t0002g0257 a0001c0006t0002g0258 a0001c0006t0002g0259 a0001c0009t0001g0101 a0001c0009t0001g0103 a0001c0009t0001g0188 a0001c0009t0001g0189 a0001c0011t0001g0005 a0001c0011t0002g0326 a0001c0012t0001g0020 a0001c0012t0003g0016 a0001c0012t0003g0019 a0001c0014t0002g0306 a0001c0014t0002g0331 a0001c0015t0009g0243 a0001c0015t0009g0245 a0001c0016t0002g0254 a0001c0016t0002g0256 a0001c0017t0001g0006 a0001c0022t0005g0109 a0001c0023t0001g0028 a0001c0024t0002g0250 a0001c0026t0002g0300 a0001c0027t0001g0175 a0001c0029t0001g0207 a0001c0031t0001g0052 a0001c0032t0002g0249 a0001c0033t0002g0341 a0002c0007t0004g0047 a0002c0007t0004g0049 a0002c0007t0004g0050 a0002c0007t0004g0238 a0002c0007t0004g0239 a0002c0007t0004g0246 a0002c0034t0004g0230 a0002c0036t0004g0229 a0004c0010t0001g0003 a0004c0010t0001g0046 a0005c0030t0001g0158 a0006c0037t0001g0197 a0007c0021t0001g0231 a0009c0019t0002g0253 a0011c0025t0002g0288	318	342	0.9298	31	c.230 others(48): Show c.2301-236_2301-206dupGAAGCACAGCTGAGTGTGTTGGCCATCT GCT	USP20	ENSG00000136878.14	transcript	ENST00000372429.8	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0085 a0001c0002t0002g0085	1	43	0.0233	31	c.-77 others(50): Show c.-77+25840_-77+25841insATATATATATATATATATATATATAT ATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03834.hp1 HG01993.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0197 a0001c0002t0002g0079 a0001c0001t0001g0197 a0001c0002t0002g0079	2	44	0.0455	31	c.-77 others(50): Show c.-77+25840_-77+25841insAAAAATATATATATATATATATATAT ATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP26_chrX_133018168_133102109	133057866	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03239.hp1 HG01934.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0092 a0001c0002t0002g0074 a0001c0002t0002g0092	2	44	0.0455	31	c.-77 others(50): Show c.-77+25840_-77+25841insAAAAAAATATATATATATATATATAT ATATA	USP26	ENSG00000134588.13	transcript	ENST00000511190.6	protein_coding	5/5			chrX	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ACATATAT others(24): Show ACATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0074 a0002c0003t0002g0074	1	116	0.0086	31	c.84- others(46): Show c.84-1282_84-1281insCATATATATATATATATATATATATATTTT T	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12			chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ACATATAT others(24): Show ACATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02132.hp1 NA18747.hp2 others(1): Show HG00544.hp1 HG02132.hp1 NA18747.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0007 a0002c0003t0002g0089 others(1): Show a0002c0003t0002g0005 a0002c0003t0002g0007 a0002c0003t0002g0089 a0002c0003t0002g0091	4	119	0.0336	31	c.84- others(46): Show c.84-1282_84-1281insCATATATATATATATATATATATATTTTTT T	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12			chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ACATATAT others(24): Show ACATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18990.hp1 NA19064.hp1 NA18953.hp2 NA18990.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0084 a0002c0003t0002g0088 a0002c0003t0002g0005 a0002c0003t0002g0084 a0002c0003t0002g0088	3	118	0.0254	31	c.84- others(46): Show c.84-1282_84-1281insCATATATATATATATATATATATTTTTTTT T	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12			chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ACATATAT others(24): Show ACATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0076 a0002c0003t0002g0076	1	116	0.0086	31	c.84- others(46): Show c.84-1282_84-1281insCATATATATATATATATATATTTTTTTTTT T	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12			chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATACATAT others(24): Show ATACATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	116	0.0086	31	c.84- others(46): Show c.84-1281_84-1280insACATATATATATATATATATATTTTTTTTT T	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP6NL_chr10_11455510_11616650	11560714	T T	TATTATAT others(24): Show TATTATATATATATATATATATATATATTATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	180	0.0056	31	c.5-3 others(46): Show c.5-33148_5-33147insTATAATATATATATATATATATATATATAA T	USP6NL	ENSG00000148429.15	transcript	ENST00000609104.6	protein_coding	2/14			chr10	TogoVar
USP8_chr15_50419405_50519421	50445545	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0227 a0001c0001t0227	a0001c0001t0227g0335 a0001c0001t0227g0335	1	9	0.1111	31	c.250 others(48): Show c.250-3831_250-3830insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
UST_chr6_148742030_149081990	148871117	C C	CTCTCTCT others(24): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	9	0.1111	31	c.248 others(50): Show c.248-15869_248-15868insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	UST	ENSG00000111962.8	transcript	ENST00000367463.5	protein_coding	1/7			chr6	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(24): Show GTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 NA19001.hp1 HG04184.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0003 a0001c0001t0001g0043	2	144	0.0139	31	c.-75 others(40): Show c.-755_-754insTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP11_chr1_38007734_38029820	38012048	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18978.hp1 NA18964.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	144	0.0139	31	c.-75 others(40): Show c.-755_-754insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	UTP11	ENSG00000183520.12	transcript	ENST00000373014.5	protein_coding		685		chr1	TogoVar
UTP20_chr12_101275105_101391618	101310595	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01433.hp2 HG03491.hp1 HG01361.hp1 HG01433.hp2 HG03491.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0009 a0002c0005t0005 a0002c0005t0009	a0002c0005t0005g0005 a0002c0005t0005g0113 a0002c0005t0009g0111 a0002c0005t0005g0005 a0002c0005t0005g0113 a0002c0005t0009g0111	3	327	0.0092	31	c.223 others(48): Show c.2231+759_2231+760insAAAAAAAAAAAAAAAAAAAAAAAAAAAG AAA	UTP20	ENSG00000120800.5	transcript	ENST00000261637.5	protein_coding	19/61		INFO_REALIGN_3_PRIME	chr12	TogoVar
UTRN_chr6_144280335_144858034	144690074	G G	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0108 a0003c0004t0003g0108	1	66	0.0152	31	c.765 others(50): Show c.7653-9991_7653-9990insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	UTRN	ENSG00000152818.20	transcript	ENST00000367545.8	protein_coding	52/74		INFO_REALIGN_3_PRIME	chr6	TogoVar
VAT1L_chr16_77783564_77985107	77805865	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG03453.hp2 HG04204.hp1 HG01928.hp2 HG03453.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0004 a0001c0003t0042 a0001c0001t0001 a0001c0002t0004 a0001c0003t0042	a0001c0001t0001g0069 a0001c0002t0004g0099 a0001c0003t0042g0267 a0001c0001t0001g0069 a0001c0002t0004g0099 a0001c0003t0042g0267	3	117	0.0256	31	c.234 others(50): Show c.234-11041_234-11040insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	VAT1L	ENSG00000171724.3	transcript	ENST00000302536.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
VAV2_chr9_133756894_133997324	133772055	A A	ACACACGG others(24): Show ACACACGGCCCCGGCGGTCACTGCGTGAGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00639.hp2 others(57): Show HG00099.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01433.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG02055.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18906.hp1 NA19030.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0006 others(12): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0015 a0001c0016 a0001c0021 a0001c0023 a0001c0028 a0001c0030 a0002c0001 a0002c0005 a0002c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(25): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0010 a0001c0002t0012 a0001c0002t0017 a0001c0002t0034 a0001c0004t0001 a0001c0004t0002 a0001c0004t0014 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0008t0025 a0001c0009t0023 a0001c0010t0005 a0001c0015t0002 a0001c0016t0002 a0001c0021t0024 a0001c0023t0019 a0001c0028t0005 a0001c0030t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0010 a0002c0005t0001 a0002c0005t0002 a0002c0011t0012	a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0071 others(57): Show a0001c0002t0001g0038 a0001c0002t0001g0046 a0001c0002t0001g0071 a0001c0002t0001g0103 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0028 a0001c0002t0002g0091 a0001c0002t0002g0173 a0001c0002t0003g0059 a0001c0002t0003g0181 a0001c0002t0003g0194 a0001c0002t0010g0186 a0001c0002t0012g0026 a0001c0002t0017g0018 a0001c0002t0017g0044 a0001c0002t0034g0117 a0001c0004t0001g0131 a0001c0004t0001g0149 a0001c0004t0001g0189 a0001c0004t0002g0023 a0001c0004t0002g0029 a0001c0004t0002g0061 a0001c0004t0002g0128 a0001c0004t0002g0183 a0001c0004t0002g0190 a0001c0004t0002g0196 a0001c0004t0002g0197 a0001c0004t0014g0125 a0001c0004t0014g0126 a0001c0006t0002g0056 a0001c0008t0001g0011 a0001c0008t0002g0040 a0001c0008t0002g0041 a0001c0008t0002g0174 a0001c0008t0025g0170 a0001c0009t0023g0171 a0001c0010t0005g0053 a0001c0010t0005g0137 a0001c0010t0005g0167 a0001c0015t0002g0122 a0001c0016t0002g0020 a0001c0021t0024g0021 a0001c0023t0019g0138 a0001c0028t0005g0024 a0001c0030t0001g0014 a0002c0001t0002g0006 a0002c0001t0002g0060 a0002c0001t0002g0074 a0002c0001t0002g0114 a0002c0001t0002g0115 a0002c0001t0004g0083 a0002c0001t0004g0084 a0002c0001t0010g0030 a0002c0005t0001g0045 a0002c0005t0002g0116 a0002c0011t0012g0003	60	198	0.3030	31	c.213 others(45): Show c.2136-10_2136-9insGCCCTCACGCAGTGACCGCCGGGGCCGTGTG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	25/29			chr9	TogoVar
VCAN_chr5_83466744_83587302	83489123	G G	GTATATCT others(24): Show GTATATCTTGTTGATATACATTTTGTTGAAAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18943.hp2 NA18959.hp2 others(7): Show NA18941.hp1 NA18943.hp2 NA18959.hp2 NA18974.hp2 NA18986.hp2 NA18995.hp1 NA18999.hp1 NA19055.hp2 NA19072.hp1 NA19077.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0023 a0002c0019 a0002c0053 others(1): Show a0001c0023 a0002c0019 a0002c0053 a0005c0018	a0001c0023t0001 a0002c0019t0002 a0002c0053t0002 others(2): Show a0001c0023t0001 a0002c0019t0002 a0002c0053t0002 a0005c0018t0002 a0005c0018t0006	a0001c0023t0001g0085 a0002c0019t0002g0002 a0002c0019t0002g0083 others(5): Show a0001c0023t0001g0085 a0002c0019t0002g0002 a0002c0019t0002g0083 a0002c0053t0002g0080 a0005c0018t0002g0084 a0005c0018t0006g0079 a0005c0018t0006g0081 a0005c0018t0006g0082	10	348	0.0287	31	c.71- others(44): Show c.71-975_71-974insTATATCTTGTTGATATACATTTTGTTGAAAT	VCAN	ENSG00000038427.16	transcript	ENST00000265077.8	protein_coding	2/14			chr5	TogoVar
VCX2_chrX_8164944_8176267	8169390	A A	ACACCTCT others(24): Show ACACCTCTTCCTCCTCCCTCCCTCCCCCACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	106	0.0094	31	c.64 others(40): Show c.641_*642insGTGTGGGGGAGGGAGGGAGGAGGAAGAGGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		553		chrX	TogoVar

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