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
UPK1B_chr3_119168598_119210143	119179507	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp1 others(25): Show HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01261.hp1 HG01943.hp2 HG02129.hp2 HG02135.hp1 HG02258.hp1 HG02572.hp2 HG03834.hp1 HG04204.hp1 NA18943.hp1 NA18943.hp2 NA18957.hp2 NA18960.hp2 NA18971.hp2 NA18977.hp1 NA18985.hp2 NA18990.hp2 NA19000.hp1 NA19003.hp1 NA19007.hp1 NA19030.hp1 NA19083.hp1 NA19087.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0004t0001 a0002c0002t0002 a0003c0003t0004	a0001c0001t0001g0009 a0001c0001t0001g0087 a0001c0001t0001g0100 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0330 a0001c0001t0001g0363 a0001c0001t0002g0322 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0334 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0368 a0001c0001t0002g0380 a0001c0001t0008g0378 a0001c0004t0001g0142 a0002c0002t0002g0358 a0002c0002t0002g0359 a0002c0002t0002g0360 a0002c0002t0002g0367 a0003c0003t0004g0354 a0003c0003t0004g0355 a0003c0003t0004g0364 a0003c0003t0004g0369	28	139	0.2014	12	c.-29 others(29): Show c.-29+5878_-29+5889dupTTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK2_chr11_118951298_118963559	118961721	C C	CTCGCCTC others(5): Show CTCGCCTCCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	396	0.0025	12	c.34 others(23): Show c.3488_*3489insTCGCCTCCTGCT	UPK2	ENSG00000110375.3	transcript	ENST00000264031.3	protein_coding		3163		chr11	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(5): Show TAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02258.hp1 HG02717.hp1 others(7): Show HG01981.hp1 HG02258.hp1 HG02717.hp1 HG02976.hp1 HG03831.hp2 NA18949.hp1 NA18954.hp2 NA18960.hp1 NA19007.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001	a0001c0002t0001g0056 a0001c0002t0001g0096 a0001c0003t0001g0006 others(7): Show a0001c0002t0001g0056 a0001c0002t0001g0096 a0001c0003t0001g0006 a0001c0003t0001g0022 a0001c0003t0001g0033 a0001c0003t0001g0070 a0001c0003t0001g0072 a0001c0003t0001g0075 a0001c0003t0001g0223 a0001c0005t0001g0063	10	243	0.0412	12	c.-28 others(23): Show c.-2831_-2830insAGAAAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102639963	C C	CAAAACAA others(5): Show CAAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	66	0.0152	12	c.485 others(27): Show c.485+240_485+241insTTTTTTTGTTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding	3/5			chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102646920	A A	AGAGAAAG others(5): Show AGAGAAAGGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 NA18951.hp2 NA19002.hp1 others(2): Show HG02280.hp1 NA18951.hp2 NA19002.hp1 NA19009.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014	a0001c0001t0004g0007 a0001c0001t0005g0008 a0001c0001t0005g0066 others(2): Show a0001c0001t0004g0007 a0001c0001t0005g0008 a0001c0001t0005g0066 a0001c0001t0013g0019 a0001c0001t0014g0065	5	115	0.0435	12	c.-41 others(23): Show c.-4180_-4179insCTTTCCTTTCTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4130		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102646923	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG03098.hp1 HG03491.hp2 others(10): Show HG00642.hp2 HG03098.hp1 HG03491.hp2 NA18966.hp2 NA18991.hp1 NA18999.hp1 NA19000.hp2 NA19043.hp2 NA19056.hp2 NA19060.hp2 NA19066.hp2 NA19081.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0011 a0001c0010t0004 a0002c0002t0002 a0003c0004t0009	a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0002g0011 others(9): Show a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0002g0011 a0001c0001t0008g0044 a0001c0003t0011g0046 a0001c0010t0004g0057 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0012 a0002c0002t0002g0028 a0002c0002t0002g0030 a0003c0004t0009g0080	13	63	0.2063	12	c.-41 others(23): Show c.-4183_-4182insTTTCTTTCTTTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4133		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102646958	A A	AGAAAGAA others(5): Show AGAAAGAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	1	140	0.0071	12	c.-42 others(23): Show c.-4218_-4217insCTTTCTTCTTTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4168		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102646970	A A	AAGAAAGA others(5): Show AAGAAAGAAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	129	0.0078	12	c.-42 others(23): Show c.-4230_-4229insATCTTTCTTTCT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4180		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540855	C C	CAAAACAA others(5): Show CAAAACAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03492.hp2 NA19077.hp2 HG01261.hp2 HG03492.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	75	0.0400	12	c.485 others(27): Show c.485+237_485+238insTTTTTTTGTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540857	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	145	0.0069	12	c.485 others(27): Show c.485+235_485+236insGTTTTTTTTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(5): Show GGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG01255.hp1 others(9): Show HG00639.hp1 HG01169.hp1 HG01255.hp1 HG01517.hp2 HG02040.hp1 HG02145.hp1 HG03486.hp2 HG03942.hp2 HG04115.hp2 NA18968.hp1 NA19007.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0002g0003 a0002c0002t0003g0004	12	41	0.2927	12	c.-41 others(23): Show c.-4197_-4196insTTTCTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPP2_chr2_158096876_158141154	158108887	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	135	0.0074	12	c.180 others(29): Show c.180+2706_180+2717dupGTGTGTGTGTGT	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UQCC1_chr20_35297578_35416973	35321283	T T	TGTGTGTG others(5): Show TGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0005 a0003c0003t0002g0005	1	201	0.0050	12	c.574 others(29): Show c.574-6519_574-6518insGCGCGCACACAC	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338913	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03471.hp1 HG03540.hp1 others(3): Show HG03209.hp2 HG03471.hp1 HG03540.hp1 NA18948.hp2 NA18952.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0140 a0001c0001t0001g0181 a0001c0001t0001g0228 others(3): Show a0001c0001t0001g0140 a0001c0001t0001g0181 a0001c0001t0001g0228 a0001c0001t0001g0235 a0001c0001t0002g0110 a0001c0001t0002g0120	6	114	0.0526	12	c.573 others(29): Show c.573+8250_573+8251insCATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35388308	T T	TTTTTTTT others(5): Show TTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02135.hp2 NA18978.hp1 others(1): Show HG02132.hp1 HG02135.hp2 NA18978.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0055 a0002c0002t0001g0068 a0002c0002t0001g0086 others(1): Show a0002c0002t0001g0055 a0002c0002t0001g0068 a0002c0002t0001g0086 a0004c0004t0001g0002	4	142	0.0282	12	c.130 others(29): Show c.130-4176_130-4175insCAAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	2/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35415259	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0249 a0004c0004t0001g0249	1	6	0.1667	12	c.-32 others(23): Show c.-3297_-3296insAAAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3287		chr20	TogoVar
UQCC3_chr11_62666673_62678686	62675922	C C	CAATAAAT others(5): Show CAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0002	1	318	0.0031	12	c.38 others(23): Show c.3808_*3809insAATAAATAAATA	UQCC3	ENSG00000204922.5	transcript	ENST00000377953.4	protein_coding		2237		chr11	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA18995.hp1 NA18998.hp1 HG00735.hp2 NA18995.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0008	3	8	0.3750	12	c.21 others(23): Show c.2134_*2135insAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
UQCC6_chr12_103945194_103962215	103948040	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	146	0.0068	12	c.34 others(23): Show c.3471_*3482dupAAAAAAAAAAAA	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		2153		chr12	TogoVar
UQCC6_chr12_103945194_103962215	103961537	T T	TTTGTTGT others(5): Show TTTGTTGTTGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0062 a0001c0001t0005g0062	1	104	0.0096	12	c.-44 others(23): Show c.-4491_-4480dupCAACAACAACAA	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		4323		chr12	TogoVar
UQCR10_chr22_29762369_29775413	29763292	C C	CAATAAAT others(5): Show CAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(22): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01192.hp1 HG01192.hp2 HG01496.hp2 HG01891.hp1 HG02027.hp2 HG02055.hp1 HG02145.hp1 HG02486.hp2 HG02717.hp1 HG02735.hp2 HG03139.hp2 NA18971.hp2 NA18979.hp2 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0019	25	189	0.1323	12	c.-41 others(23): Show c.-4107_-4106insAATAAATAAATA	UQCR10	ENSG00000184076.13	transcript	ENST00000330029.6	protein_coding		4076		chr22	TogoVar
UQCRB_chr8_96217947_96240545	96222794	T T	TCATACAC others(5): Show TCATACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG03942.hp1 NA18954.hp1 others(9): Show HG02630.hp1 HG03942.hp1 NA18954.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18991.hp2 NA18999.hp2 NA19004.hp1 NA19007.hp1 NA19067.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0036 a0001c0001t0002 a0001c0001t0030 a0001c0001t0036	a0001c0001t0002g0002 a0001c0001t0030g0036 a0001c0001t0036g0046 a0001c0001t0002g0002 a0001c0001t0030g0036 a0001c0001t0036g0046	12	160	0.0750	12	c.82 others(23): Show c.8260_*8261insTGTGTGTGTATG	UQCRB	ENSG00000156467.10	transcript	ENST00000287022.10	protein_coding		152		chr8	TogoVar
UQCRC2_chr16_21948361_21988660	21961626	T T	TTATATAT others(5): Show TTATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01261.hp2 HG02602.hp1 others(2): Show HG00609.hp2 HG01261.hp2 HG02602.hp1 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0002t0001g0146	5	22	0.2273	12	c.333 others(27): Show c.333-802_333-791dupATATATATATAT	UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
UQCRC2_chr16_21948361_21988660	21961664	A A	ATATATAT others(5): Show ATATATATATATG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	360	0.0028	12	c.333 others(27): Show c.333-791_333-790insATATATGTATAT	UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
UQCRFS1_chr19_29200320_29218151	29200889	T T	TAAATAAA others(5): Show TAAATAAATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	333	0.0030	12	c.66 others(23): Show c.6658_*6659insTTTTATTTATTT	UQCRFS1	ENSG00000169021.6	transcript	ENST00000304863.6	protein_coding		4430		chr19	TogoVar
UQCRFS1_chr19_29200320_29218151	29217193	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01361.hp2 HG02109.hp1 others(1): Show HG01081.hp1 HG01361.hp2 HG02109.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0019 a0001c0001t0006g0015 a0001c0001t0002g0019 a0001c0001t0006g0015	4	24	0.1667	12	c.-40 others(23): Show c.-4076_-4075insAAAAAAAAAAAA	UQCRFS1	ENSG00000169021.6	transcript	ENST00000304863.6	protein_coding		4043		chr19	TogoVar
URAD_chr13_27972717_27993693	27987892	T T	TGATAGAT others(5): Show TGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG00621.hp2 others(29): Show HG00099.hp2 HG00621.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01243.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02155.hp2 HG02257.hp2 HG02451.hp1 HG02559.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp2 NA18942.hp1 NA18948.hp1 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18974.hp2 NA18994.hp1 NA18994.hp2 NA19004.hp1 NA19043.hp1 NA19059.hp2 NA19068.hp2 NA19090.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0001 a0001c0001t0001 a0001c0001t0002 a0004c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0002g0051 a0001c0001t0002g0127 a0004c0004t0001g0078	32	96	0.3333	12	c.175 others(27): Show c.175+559_175+570dupTATCTATCTATC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding	1/1			chr13	TogoVar
URAD_chr13_27972717_27993693	27990728	T T	TGTATAGG others(5): Show TGTATAGGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00423.hp1 others(33): Show HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00735.hp1 HG01106.hp2 HG02056.hp1 HG02135.hp2 HG02572.hp1 HG02886.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03831.hp1 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18946.hp2 NA18950.hp1 NA18961.hp1 NA18965.hp2 NA18968.hp2 NA18973.hp1 NA18988.hp1 NA18994.hp2 NA18999.hp1 NA19030.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(8): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0004c0004t0001g0070	36	278	0.1295	12	c.-20 others(23): Show c.-2092_-2091insCTATACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2036		chr13	TogoVar
URAD_chr13_27972717_27993693	27990761	A A	ATAGGTAT others(5): Show ATAGGTATAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01516.hp1 others(7): Show HG00280.hp1 HG00735.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG02056.hp2 HG02293.hp2 HG02300.hp1 HG02896.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0036 a0001c0001t0001g0079	10	321	0.0312	12	c.-21 others(23): Show c.-2125_-2124insCACCTATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2069		chr13	TogoVar
URAD_chr13_27972717_27993693	27990761	A A	ATAGGTGT others(5): Show ATAGGTGTAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01981.hp2 HG01074.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0036 a0001c0001t0001g0007 a0001c0001t0001g0036	2	313	0.0064	12	c.-21 others(23): Show c.-2125_-2124insCACCTACACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2069		chr13	TogoVar
URAD_chr13_27972717_27993693	27990932	G G	GGTATATG others(5): Show GGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0125 a0001c0005t0002g0125	1	425	0.0024	12	c.-22 others(23): Show c.-2296_-2295insATATACATATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2240		chr13	TogoVar
URAD_chr13_27972717_27993693	27990950	G G	GGTATATG others(5): Show GGTATATGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA18906.hp1 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0127 a0001c0001t0002g0052 a0001c0001t0002g0127	2	395	0.0051	12	c.-23 others(23): Show c.-2314_-2313insATATACATATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2258		chr13	TogoVar
URAD_chr13_27972717_27993693	27990968	T T	TGTATAGG others(5): Show TGTATAGGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00609.hp2 others(67): Show HG00323.hp1 HG00544.hp1 HG00609.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02055.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02922.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp2 NA19005.hp1 NA19011.hp1 NA19062.hp1 NA19063.hp1 NA19067.hp2 NA19076.hp1 NA19077.hp1 NA19084.hp1 NA20752.hp1 NA20805.hp2	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0008 a0002c0002 a0003c0003 a0007c0008	a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0007c0008t0001	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0030 others(15): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0030 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0004g0117 a0003c0003t0001g0012 a0003c0003t0001g0020 a0003c0003t0001g0031 a0003c0003t0001g0124 a0007c0008t0001g0121	70	309	0.2265	12	c.-23 others(23): Show c.-2332_-2331insCTATACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2276		chr13	TogoVar
URAD_chr13_27972717_27993693	27991286	T T	TGTATAGG others(5): Show TGTATAGGTATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(62): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01981.hp2 HG02056.hp1 HG02129.hp2 HG02135.hp2 HG02293.hp2 HG02300.hp1 HG02572.hp1 HG02683.hp2 HG02698.hp2 HG02886.hp2 HG02896.hp2 HG03017.hp2 HG03139.hp1 HG03209.hp1 HG03490.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18973.hp1 NA18974.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19004.hp1 NA19059.hp1 NA19065.hp1 NA19074.hp2 NA19080.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0004c0004t0001g0070 a0004c0004t0001g0078	65	374	0.1738	12	c.-26 others(23): Show c.-2650_-2649insCTATACCTATAC	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2594		chr13	TogoVar
URAD_chr13_27972717_27993693	27991325	G G	GTAGGTAT others(5): Show GTAGGTATAGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00438.hp2 others(20): Show HG00140.hp1 HG00323.hp2 HG00438.hp2 HG01175.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp2 HG01981.hp1 HG02040.hp2 HG02280.hp1 HG02717.hp2 HG02818.hp1 HG03041.hp1 HG03098.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18949.hp1 NA19055.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065	23	250	0.0920	12	c.-26 others(23): Show c.-2689_-2688insTACCTATACCTA	URAD	ENSG00000183463.7	transcript	ENST00000332715.6	protein_coding		2633		chr13	TogoVar
URB1_chr21_32306018_32398012	32361156	G G	GAAGAAAG others(5): Show GAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0027 a0001c0043t0027	a0001c0043t0027g0078 a0001c0043t0027g0078	1	328	0.0030	12	c.164 others(27): Show c.1640-34_1640-33insTCTTTCTTTCTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAGAAA others(5): Show AAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp1 HG00738.hp1 others(33): Show HG00597.hp1 HG00639.hp1 HG00738.hp1 HG01168.hp2 HG01169.hp2 HG01516.hp1 HG01975.hp2 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03486.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18959.hp1 NA18962.hp1 NA19004.hp2 NA19007.hp1 NA19058.hp1 NA19068.hp1 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0011 a0013 a0021	a0001c0001 a0001c0002 a0001c0010 others(11): Show a0001c0001 a0001c0002 a0001c0010 a0001c0013 a0001c0014 a0002c0004 a0002c0005 a0003c0003 a0004c0007 a0005c0006 a0009c0017 a0011c0024 a0013c0022 a0021c0042	a0001c0001t0001 a0001c0002t0003 a0001c0002t0008 others(18): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0008 a0001c0010t0036 a0001c0013t0006 a0001c0014t0003 a0002c0004t0002 a0002c0004t0031 a0002c0005t0002 a0002c0005t0007 a0003c0003t0004 a0003c0003t0009 a0003c0003t0015 a0003c0003t0026 a0004c0007t0005 a0005c0006t0001 a0005c0006t0034 a0009c0017t0006 a0011c0024t0025 a0013c0022t0003 a0021c0042t0029	a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0140 others(32): Show a0001c0001t0001g0104 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0002t0003g0003 a0001c0002t0003g0228 a0001c0002t0003g0260 a0001c0002t0003g0264 a0001c0002t0003g0282 a0001c0002t0008g0015 a0001c0010t0036g0267 a0001c0013t0006g0304 a0001c0014t0003g0309 a0002c0004t0002g0244 a0002c0004t0031g0081 a0002c0005t0002g0237 a0002c0005t0002g0238 a0002c0005t0007g0235 a0003c0003t0004g0041 a0003c0003t0004g0042 a0003c0003t0004g0047 a0003c0003t0004g0048 a0003c0003t0004g0052 a0003c0003t0009g0038 a0003c0003t0015g0029 a0003c0003t0026g0037 a0004c0007t0005g0207 a0005c0006t0001g0124 a0005c0006t0001g0154 a0005c0006t0034g0125 a0009c0017t0006g0311 a0011c0024t0025g0066 a0013c0022t0003g0285 a0021c0042t0029g0306	36	53	0.6792	12	c.164 others(27): Show c.1640-48_1640-37dupCTTTCTTTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
URB2_chr1_229621247_229665200	229626070	C C	CGGGCCGC others(5): Show CGGGCCGCGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	1	354	0.0028	12	c.-30 others(21): Show c.-300_-299insGGGCCGCGGGCT	URB2	ENSG00000135763.10	transcript	ENST00000258243.7	protein_coding		176		chr1	TogoVar
URI1_chr19_29937239_30021612	29944140	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01516.hp2 others(4): Show HG01070.hp1 HG01071.hp2 HG01516.hp2 HG02300.hp2 NA19003.hp1 NA19012.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0073 a0001c0001t0001g0234 a0001c0001t0001g0235 others(4): Show a0001c0001t0001g0073 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0002c0002t0001g0035 a0002c0002t0001g0036	7	44	0.1591	12	c.117 others(29): Show c.117+1518_117+1529dupTATATATATATA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
UROC1_chr3_126476166_126522773	126493212	C C	CTGAAGAC others(5): Show CTGAAGACATTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03471.hp1 HG02055.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0002g0096 a0001c0001t0002g0100	2	378	0.0053	12	c.151 others(29): Show c.1510-708_1510-697dupAAAATGTCTTCA	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	15/19			chr3	TogoVar
UROS_chr10_125783586_125828258	125817224	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19010.hp2 NA19070.hp2 others(1): Show NA18998.hp1 NA19010.hp2 NA19070.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0033 a0001c0001t0001g0130 a0001c0001t0001g0135	4	86	0.0465	12	c.-26 others(27): Show c.-26-711_-26-700dupAAAAAAAAAAAA	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding	1/9			chr10	TogoVar
UROS_chr10_125783586_125828258	125826996	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(207): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01255.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001 a0005c0005t0001 a0006c0006t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(128): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0006g0053 a0002c0002t0001g0128 a0002c0002t0004g0239 a0003c0003t0001g0048 a0005c0005t0001g0140 a0006c0006t0002g0095	210	340	0.6176	12	c.-39 others(23): Show c.-3995_-3994insTTTTTTTTTTTT	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		3739		chr10	TogoVar
USB1_chr16_57996407_58026618	57999239	T T	TCACACAC others(5): Show TCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG04115.hp1 NA19076.hp1 others(1): Show HG03688.hp2 HG04115.hp1 NA19076.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0064 a0001c0001t0003g0118 a0001c0001t0001g0001 a0001c0001t0002g0064 a0001c0001t0003g0118	4	73	0.0548	12	c.-22 others(23): Show c.-2245_-2244insCACACACACACA	USB1	ENSG00000103005.13	transcript	ENST00000219281.8	protein_coding		2167		chr16	TogoVar
USE1_chr19_17210357_17224829	17224291	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(269): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0005 others(2): Show a0001c0001 a0001c0004 a0001c0005 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(2): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0004t0001g0001 a0001c0004t0001g0037 a0001c0005t0001g0054 a0001c0005t0001g0059 a0002c0002t0001g0003 a0002c0002t0001g0022 a0002c0002t0001g0032 a0003c0003t0001g0001	272	281	0.9680	12	c.44 others(23): Show c.4478_*4479insTTTTTTTTTTTT	USE1	ENSG00000053501.14	transcript	ENST00000263897.10	protein_coding		4463		chr19	TogoVar
USF2_chr19_35263962_35284821	35265633	T T	TAGGAAGG others(5): Show TAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01256.hp1 others(4): Show HG00735.hp2 HG01081.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp1 HG02572.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0052 a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0052	7	341	0.0205	12	c.-34 others(23): Show c.-3469_-3468insAGGAAGGAAGGA	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		3328		chr19	TogoVar
USF2_chr19_35263962_35284821	35265633	T T	TAGGGAGG others(5): Show TAGGGAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00544.hp2 others(80): Show HG00099.hp2 HG00408.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG01070.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02056.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02293.hp2 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp2 NA18747.hp1 NA18939.hp1 NA18943.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18995.hp1 NA19000.hp2 NA19003.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19063.hp1 NA19077.hp1 NA19081.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0002t0007	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0023 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0002g0056 a0001c0001t0003g0071 a0001c0001t0004g0002 a0001c0001t0004g0035 a0001c0001t0005g0016 a0001c0001t0005g0032 a0001c0001t0005g0059 a0001c0001t0006g0002 a0001c0001t0006g0029 a0001c0001t0006g0044 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0070 a0001c0001t0007g0076 a0001c0001t0017g0018 a0001c0001t0018g0002 a0001c0001t0021g0027 a0001c0001t0022g0019 a0001c0002t0007g0018	83	417	0.1990	12	c.-34 others(23): Show c.-3469_-3468insAGGGAGGAAGGA	USF2	ENSG00000105698.16	transcript	ENST00000222305.8	protein_coding		3328		chr19	TogoVar
USF3_chr3_113643385_113701642	113667865	A A	AAAACAAA others(5): Show AAAACAAACAAAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0052 a0003c0004t0052	a0003c0004t0052g0287 a0003c0004t0052g0287	1	231	0.0043	12	c.159 others(29): Show c.159+2244_159+2255dupGTTTGTTTGTTT	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	5/6			chr3	TogoVar
USF3_chr3_113643385_113701642	113689034	A A	AAAACAAA others(5): Show AAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG04184.hp1 HG02015.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0076 a0001c0001t0003 a0001c0002t0076	a0001c0001t0003g0160 a0001c0002t0076g0161 a0001c0001t0003g0160 a0001c0002t0076g0161	2	32	0.0625	12	c.-13 others(31): Show c.-135+7324_-135+7335dupGTTTGTTTGTTT	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
USF3_chr3_113643385_113701642	113696646	C C	CCCCCTCC others(5): Show CCCCCTCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18995.hp2 NA19005.hp2 others(1): Show NA18963.hp2 NA18995.hp2 NA19005.hp2 NA19058.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0001 a0003c0004t0004g0143 a0003c0004t0004g0144 others(1): Show a0003c0004t0004g0001 a0003c0004t0004g0143 a0003c0004t0004g0144 a0003c0004t0004g0145	4	340	0.0118	12	c.-41 others(21): Show c.-412_-411insCGGGGGGAGGGG	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding		5		chr3	TogoVar
USH1C_chr11_17488900_17549416	17548418	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0093 a0002c0002t0007g0093	1	23	0.0435	12	c.-41 others(23): Show c.-4123_-4112dupAAAAAAAAAAAA	USH1C	ENSG00000006611.17	transcript	ENST00000005226.12	protein_coding		4003		chr11	TogoVar

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