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
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03471.hp2 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0025 a0001c0002t0001 a0001c0001t0025 a0001c0002t0001	a0001c0001t0025g0026 a0001c0002t0001g0021 a0001c0001t0025g0026 a0001c0002t0001g0021	2	8	0.2500	20	c.467 others(37): Show c.467-7579_467-7560dupTATATATATATATATATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(13): Show TTTGTAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp2 HG02897.hp2 others(1): Show HG02559.hp1 HG02886.hp2 HG02897.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0002t0008 a0001c0004t0003 a0001c0002t0007 a0001c0002t0008 a0001c0004t0003	a0001c0002t0007g0003 a0001c0002t0008g0045 a0001c0004t0003g0004 others(1): Show a0001c0002t0007g0003 a0001c0002t0008g0045 a0001c0004t0003g0004 a0001c0004t0003g0046	4	27	0.1481	20	c.193 others(37): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar
UNC79_chr14_93425939_93712876	93479172	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0093 a0002c0015t0001g0093	1	50	0.0200	20	c.619 others(37): Show c.619+1483_619+1502dupCCTTCCTTCCTTCCTTCCTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	4/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660563	A A	ATATATAT others(13): Show ATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	117	0.0085	20	c.685 others(39): Show c.6858+1303_6858+1304insATATATATATATGTGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG01081.hp1 others(23): Show HG00323.hp1 HG00323.hp2 HG01081.hp1 HG01099.hp1 HG01255.hp1 HG01978.hp2 HG02135.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03688.hp2 HG04199.hp1 NA18955.hp1 NA18981.hp2 NA19030.hp2 NA19064.hp1 NA19079.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0001c0005 a0001c0009 others(14): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011 a0001c0016 a0001c0030 a0001c0035 a0002c0003 a0002c0007 a0002c0008 a0002c0015 a0002c0017 a0002c0039 a0002c0040 a0003c0004 a0003c0014 a0011c0032	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(14): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0011t0001 a0001c0016t0001 a0001c0030t0001 a0001c0035t0001 a0002c0003t0001 a0002c0007t0001 a0002c0008t0001 a0002c0015t0001 a0002c0017t0001 a0002c0039t0001 a0002c0040t0001 a0003c0004t0001 a0003c0014t0001 a0011c0032t0001	a0001c0001t0001g0058 a0001c0005t0001g0163 a0001c0009t0001g0016 others(23): Show a0001c0001t0001g0058 a0001c0005t0001g0163 a0001c0009t0001g0016 a0001c0011t0001g0129 a0001c0016t0001g0189 a0001c0030t0001g0056 a0001c0035t0001g0011 a0002c0003t0001g0087 a0002c0003t0001g0091 a0002c0003t0001g0104 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0007t0001g0072 a0002c0007t0001g0081 a0002c0008t0001g0138 a0002c0015t0001g0093 a0002c0017t0001g0178 a0002c0039t0001g0157 a0002c0040t0001g0097 a0003c0004t0001g0108 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0014t0001g0067 a0003c0014t0001g0159 a0011c0032t0001g0182	26	86	0.3023	20	c.788 others(39): Show c.7881+1479_7881+1498dupAAAAAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209844451	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00609.hp1 others(9): Show HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01123.hp2 HG01168.hp1 HG02040.hp1 HG02559.hp1 HG03516.hp1 HG04228.hp2 NA18979.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0001c0042 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0014t0001 a0001c0042t0003 a0002c0011t0001	a0001c0001t0001g0053 a0001c0001t0002g0043 a0001c0001t0002g0100 others(9): Show a0001c0001t0001g0053 a0001c0001t0002g0043 a0001c0001t0002g0100 a0001c0001t0003g0153 a0001c0001t0006g0050 a0001c0002t0001g0056 a0001c0002t0002g0069 a0001c0002t0004g0151 a0001c0014t0001g0040 a0001c0042t0003g0161 a0002c0011t0001g0007 a0002c0011t0001g0008	12	120	0.1000	20	c.345 others(39): Show c.3454+2014_3454+2033dupTTTCTTTCTTTCTTTCTTTC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	G G	GTAAAATA others(13): Show GTAAAATAAAATAAAATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00642.hp1 HG00673.hp1 others(27): Show HG00544.hp2 HG00642.hp1 HG00673.hp1 HG01069.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG02056.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp2 NA18959.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA19005.hp1 NA19065.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0180 a0001c0001t0008g0116 a0001c0003t0001g0115 a0001c0003t0003g0068	30	208	0.1442	20	c.43 others(31): Show c.4330_*4331insTTTTATTTTATTTTATTTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67987257	A A	AAAATAAA others(13): Show AAAATAAAATAAAATAAAATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18981.hp1 NA19056.hp2 others(1): Show NA18980.hp1 NA18981.hp1 NA19056.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0164 a0001c0001t0001g0009 a0001c0001t0001g0164	4	368	0.0109	20	c.42 others(31): Show c.4288_*4289insCATTTTATTTTATTTTATTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3842		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67987276	T T	TAAAATAA others(13): Show TAAAATAAAATAAAATAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00639.hp1 others(22): Show HG00140.hp2 HG00558.hp1 HG00639.hp1 HG00642.hp2 HG01099.hp2 HG01361.hp2 HG01516.hp2 HG01517.hp2 HG01978.hp1 HG02083.hp2 HG02145.hp2 HG02615.hp1 HG02630.hp1 HG02922.hp2 HG03834.hp1 NA18906.hp2 NA18945.hp2 NA18948.hp1 NA18969.hp2 NA18979.hp1 NA18982.hp2 NA18985.hp1 NA18998.hp1 NA19064.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0002c0010	a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0002 a0001c0003t0003 a0001c0006t0005 a0002c0010t0003	a0001c0001t0003g0075 a0001c0001t0005g0100 a0001c0002t0002g0003 others(16): Show a0001c0001t0003g0075 a0001c0001t0005g0100 a0001c0002t0002g0003 a0001c0002t0002g0005 a0001c0002t0002g0013 a0001c0002t0002g0056 a0001c0002t0002g0154 a0001c0002t0002g0156 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0173 a0001c0003t0003g0014 a0001c0003t0003g0017 a0001c0003t0003g0027 a0001c0003t0003g0030 a0001c0003t0003g0032 a0001c0003t0003g0094 a0001c0006t0005g0034 a0002c0010t0003g0090	25	219	0.1142	20	c.42 others(31): Show c.4269_*4270insTTTTTATTTTATTTTATTTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3823		chr11	TogoVar
UNKL_chr16_1358205_1419704	1419319	T T	TGAGACAA others(13): Show TGAGACAAAAAAGGAAAACGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	319	0.0031	20	c.-46 others(31): Show c.-4629_-4628insTCGTTTTCCTTTTTTGTCTC	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding		4616		chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG04204.hp1 others(1): Show HG02895.hp1 HG02896.hp2 HG04204.hp1 NA18963.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 a0001c0002 a0001c0003 a0001c0006	a0001c0002t0001 a0001c0003t0004 a0001c0006t0013 a0001c0002t0001 a0001c0003t0004 a0001c0006t0013	a0001c0002t0001g0026 a0001c0003t0004g0115 a0001c0003t0004g0116 others(1): Show a0001c0002t0001g0026 a0001c0003t0004g0115 a0001c0003t0004g0116 a0001c0006t0013g0224	4	107	0.0374	20	c.-26 others(31): Show c.-2642_-2641insTTTTTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UPF1_chr19_18826959_18873230	18829271	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG03139.hp1 NA20129.hp1 others(1): Show HG01109.hp2 HG03139.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0034 a0001c0003t0004g0172 a0001c0003t0004g0174 others(1): Show a0001c0003t0004g0034 a0001c0003t0004g0172 a0001c0003t0004g0174 a0001c0003t0004g0176	4	89	0.0449	20	c.-29 others(31): Show c.-2939_-2938insATATATATATATATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2687		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829608	T T	TATATATG others(13): Show TATATATGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG01928.hp2 HG00738.hp1 HG01255.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0001g0042 a0001c0001t0001g0238 a0001c0001t0001g0251	3	350	0.0086	20	c.-26 others(31): Show c.-2602_-2601insATATATGTATATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2350		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829610	T T	TATATATG others(13): Show TATATATGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02129.hp1 HG02572.hp1 others(5): Show HG02056.hp1 HG02129.hp1 HG02572.hp1 HG02896.hp2 HG03579.hp1 NA18612.hp2 NA18940.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0001 a0001c0002t0006 a0001c0009t0001 a0001c0001t0001 a0001c0002t0006 a0001c0009t0001	a0001c0001t0001g0043 a0001c0001t0001g0191 a0001c0001t0001g0193 others(5): Show a0001c0001t0001g0043 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0230 a0001c0002t0006g0007 a0001c0009t0001g0201	8	392	0.0204	20	c.-26 others(31): Show c.-2600_-2599insATATATGTATATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2348		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829623	A A	ATATATAC others(13): Show ATATATACATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	361	0.0028	20	c.-25 others(31): Show c.-2587_-2586insTATATACATATATATATGTG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2335		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829625	A A	ATATATAC others(13): Show ATATATACATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02970.hp2 HG02559.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0185 a0001c0001t0003g0186	2	367	0.0054	20	c.-25 others(31): Show c.-2585_-2584insTATATACATATATATATGTG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2333		chr19	TogoVar
UPF1_chr19_18826959_18873230	18863713	A A	AGGGCTCT others(13): Show AGGGCTCTCCTAGGGGAGGGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG01168.hp1 others(25): Show HG00544.hp1 HG00597.hp1 HG01168.hp1 HG01884.hp1 HG02071.hp2 HG02165.hp1 HG02523.hp1 HG02572.hp2 HG02630.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp2 HG04199.hp2 NA18747.hp2 NA18940.hp2 NA18952.hp1 NA18955.hp2 NA18960.hp1 NA18975.hp1 NA18979.hp2 NA18994.hp1 NA19005.hp1 NA19056.hp2 NA19079.hp2 NA19084.hp1 NA19087.hp2 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0007t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0002t0001g0047 others(20): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0002t0001g0047 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0006g0007 a0001c0007t0001g0164	28	391	0.0716	20	c.277 others(37): Show c.2775+126_2775+145dupTCTCCTAGGGGAGGGTGGGC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01167.hp1 HG01169.hp1 others(6): Show HG01099.hp1 HG01167.hp1 HG01169.hp1 HG02922.hp2 HG03195.hp1 HG03209.hp1 HG03942.hp1 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0002g0010 a0001c0001t0002g0042 others(3): Show a0001c0001t0001g0046 a0001c0001t0002g0010 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045	9	11	0.8182	20	c.263 others(33): Show c.263+18_263+19insAAAAAAAAAAAAAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar
UPK1A_chr19_35661517_35683481	35670500	C C	CCTCCCCT others(13): Show CCTCCCCTCCCCTCGCCTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(81): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01109.hp2 HG01123.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01981.hp1 HG01993.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03471.hp1 HG03490.hp2 HG03579.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18947.hp2 NA18952.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18973.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0004c0003t0001 a0006c0013t0002	a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 others(44): Show a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0090 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0016 a0001c0001t0002g0029 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0122 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0003g0002 a0001c0001t0004g0055 a0002c0002t0001g0216 a0004c0003t0001g0089 a0004c0003t0001g0091 a0006c0013t0002g0218	84	410	0.2049	20	c.285 others(37): Show c.285+1860_285+1879dupGCCTCCTCTCCCCTCCCCTC	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18973.hp1 NA18955.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0212 a0001c0001t0002g0002 a0001c0001t0002g0212	2	162	0.0123	20	c.42 others(31): Show c.4225_*4226insATATATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(13): Show TAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01257.hp2 others(18): Show HG00642.hp1 HG00673.hp1 HG01257.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02135.hp2 HG02155.hp1 HG02615.hp1 HG02683.hp2 HG02809.hp2 HG03209.hp2 NA18906.hp2 NA18940.hp1 NA18990.hp2 NA18999.hp2 NA19011.hp2 NA19068.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0007c0016	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0002c0004t0001 a0007c0016t0001	a0001c0001t0001g0086 a0001c0002t0001g0088 a0001c0003t0001g0006 others(12): Show a0001c0001t0001g0086 a0001c0002t0001g0088 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0017 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0033 a0001c0003t0001g0058 a0001c0003t0001g0224 a0001c0005t0001g0013 a0001c0005t0001g0064 a0001c0005t0001g0078 a0002c0004t0001g0178 a0007c0016t0001g0059	21	254	0.0827	20	c.-28 others(31): Show c.-2831_-2830insAGAAAGAAAGAAAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102646920	A A	AGAGAAAG others(13): Show AGAGAAAGGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG02004.hp2 NA18959.hp2 others(4): Show HG01081.hp1 HG02004.hp2 NA18959.hp2 NA18982.hp1 NA18998.hp1 NA19009.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010	a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0014 others(4): Show a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0062 a0001c0001t0004g0067 a0001c0001t0006g0006 a0001c0001t0010g0023	7	117	0.0598	20	c.-41 others(31): Show c.-4180_-4179insCTTTCTTTCTTTCCTTTCTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4130		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102646923	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18998.hp2 NA19077.hp1 NA18998.hp2 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0079 a0002c0002t0002g0029 a0001c0001t0001g0079 a0002c0002t0002g0029	2	52	0.0385	20	c.-41 others(31): Show c.-4183_-4182insTTTCTTTCTTTCTTTCTTTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4133		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547829	A A	AGAGAAAG others(13): Show AGAGAAAGGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	173	0.0058	20	c.-41 others(31): Show c.-4194_-4193insCTTTCTTTCTTTCCTTTCTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4134		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(29): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00544.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01255.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp2 HG01952.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02602.hp2 HG02738.hp1 HG03486.hp1 HG03927.hp2 HG03942.hp1 NA18951.hp2 NA18982.hp1 NA18991.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19056.hp1 NA19066.hp2 NA19080.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0002g0003 a0001c0003t0001g0006 a0002c0002t0003g0004	32	61	0.5246	20	c.-41 others(31): Show c.-4197_-4196insTTTCTTTCTTTCTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547867	A A	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03492.hp1 HG03831.hp1 HG03209.hp2 HG03492.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	3	177	0.0169	20	c.-42 others(31): Show c.-4232_-4231insATCTTTCTTTCTTTCTTTCT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4172		chr7	TogoVar
UPP2_chr2_158096876_158141154	158104917	A A	AAAGGGAA others(13): Show AAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19064.hp1 NA18999.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0183 a0001c0001t0001g0184	2	222	0.0090	20	c.63- others(35): Show c.63-1138_63-1119dupGGAAGGGAAGGGAAGGGAAG	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UPP2_chr2_158096876_158141154	158104974	A A	AGGGAGGG others(13): Show AGGGAGGGGAGGGGAGGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0074 a0002c0002t0003g0074	1	338	0.0030	20	c.63- others(35): Show c.63-1121_63-1120insGGGGAGGGGAGGGGAGGGGA	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UQCC1_chr20_35297578_35416973	35321283	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02818.hp1 HG00642.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0243 a0001c0001t0002g0245	2	202	0.0099	20	c.574 others(37): Show c.574-6519_574-6518insGCGCGCACACACACACACAC	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35321283	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	201	0.0050	20	c.574 others(37): Show c.574-6519_574-6518insGCGCACACACACACACACAC	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338884	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0004 a0003c0003t0002g0004	1	243	0.0041	20	c.573 others(37): Show c.573+8279_573+8280insATATATATATATATATATAT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	173	0.0058	20	c.573 others(37): Show c.573+8275_573+8276insATATATATATATATATATAT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338892	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	25	0.0400	20	c.573 others(37): Show c.573+8271_573+8272insATATATATATATATTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338913	A A	ATATATAT others(13): Show ATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01517.hp2 HG03017.hp1 others(1): Show HG00738.hp1 HG01517.hp2 HG03017.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0252 others(1): Show a0001c0001t0001g0155 a0001c0001t0001g0189 a0001c0001t0001g0252 a0001c0001t0002g0129	4	112	0.0357	20	c.573 others(37): Show c.573+8250_573+8251insCATATATATATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp1 HG01891.hp2 others(25): Show HG00323.hp2 HG00558.hp1 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02280.hp1 HG02451.hp2 HG02602.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 NA18946.hp2 NA18951.hp1 NA18956.hp2 NA18969.hp1 NA18978.hp2 NA18983.hp1 NA19004.hp1 NA19043.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 others(25): Show a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0005g0168 a0001c0001t0005g0169 a0002c0002t0001g0008 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0003g0051 a0002c0002t0004g0009	28	84	0.3333	20	c.24+ others(35): Show c.24+1216_24+1235dupTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35412617	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01167.hp1 HG01346.hp2 HG00738.hp2 HG01167.hp1 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0018 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0001g0018 a0002c0002t0003g0033 a0002c0002t0003g0034	3	67	0.0448	20	c.-65 others(29): Show c.-655_-654insTTTTTTTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		645		chr20	TogoVar
UQCC1_chr20_35297578_35416973	35415259	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	6	0.1667	20	c.-32 others(31): Show c.-3297_-3296insAAAAAAAAAAAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3287		chr20	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	6	0.1667	20	c.21 others(31): Show c.2134_*2135insAAAAAAAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
UQCC6_chr12_103945194_103962215	103957940	T T	TTATATTA others(13): Show TTATATTATATATTTTTAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02735.hp1 HG03017.hp2 others(5): Show HG02258.hp2 HG02735.hp1 HG03017.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0026 a0001c0001t0008g0046 a0001c0001t0008g0014 a0001c0001t0008g0026 a0001c0001t0008g0046	8	459	0.0174	20	c.-90 others(29): Show c.-902_-883dupTATTAAAAATATATAATATA	UQCC6	ENSG00000204954.10	transcript	ENST00000378090.9	protein_coding		726		chr12	TogoVar
UQCR10_chr22_29762369_29775413	29763292	C C	CAATAAAT others(13): Show CAATAAATAAATAAATAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01993.hp2 HG02818.hp1 others(10): Show HG00544.hp2 HG01993.hp2 HG02818.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18945.hp1 NA18948.hp1 NA18997.hp2 NA18998.hp2 NA19006.hp2 NA19067.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0016	13	177	0.0734	20	c.-41 others(31): Show c.-4107_-4106insAATAAATAAATAAATAAATA	UQCR10	ENSG00000184076.13	transcript	ENST00000330029.6	protein_coding		4076		chr22	TogoVar
UQCRC2_chr16_21948361_21988660	21961626	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03098.hp2 NA18955.hp1 others(2): Show HG02523.hp1 HG03098.hp2 NA18955.hp1 NA18975.hp2 NA19063.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0002t0001 a0004c0005t0001 a0001c0001t0001 a0001c0002t0001 a0004c0005t0001	a0001c0001t0001g0008 a0001c0001t0001g0110 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0008 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0002t0001g0002 a0004c0005t0001g0001	5	22	0.2273	20	c.333 others(35): Show c.333-810_333-791dupATATATATATATATATATAT	UQCRC2	ENSG00000140740.11	transcript	ENST00000268379.9	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
UQCRH_chr1_46298698_46321776	46299878	C C	CAAATAAA others(13): Show CAAATAAAATAAAATAAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	424	0.0024	20	c.-38 others(31): Show c.-3889_-3888insAAATAAAATAAAATAAAATA	UQCRH	ENSG00000173660.12	transcript	ENST00000311672.10	protein_coding		3819		chr1	TogoVar
URB1_chr21_32306018_32398012	32361159	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00558.hp2 others(65): Show HG00099.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00741.hp1 HG01071.hp1 HG01123.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03654.hp1 HG04184.hp2 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18942.hp2 NA18950.hp2 NA18953.hp1 NA18959.hp2 NA18961.hp1 NA18977.hp1 NA18981.hp2 NA18995.hp1 NA19000.hp1 NA19010.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19085.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0013 a0016 a0019	a0001c0001 a0001c0002 a0001c0008 others(12): Show a0001c0001 a0001c0002 a0001c0008 a0001c0014 a0001c0037 a0001c0040 a0001c0056 a0002c0004 a0003c0003 a0004c0007 a0005c0006 a0008c0059 a0013c0022 a0016c0035 a0019c0036	a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 others(24): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0022 a0001c0001t0038 a0001c0002t0003 a0001c0002t0008 a0001c0002t0016 a0001c0002t0023 a0001c0002t0035 a0001c0008t0006 a0001c0008t0020 a0001c0014t0003 a0001c0037t0003 a0001c0040t0001 a0001c0056t0017 a0002c0004t0002 a0002c0004t0007 a0003c0003t0004 a0003c0003t0009 a0003c0003t0015 a0003c0003t0044 a0004c0007t0005 a0005c0006t0012 a0008c0059t0003 a0013c0022t0003 a0016c0035t0012 a0019c0036t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0082 others(61): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0101 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0138 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0010g0122 a0001c0001t0010g0166 a0001c0001t0022g0011 a0001c0001t0038g0129 a0001c0002t0003g0003 a0001c0002t0003g0171 a0001c0002t0003g0195 a0001c0002t0003g0221 a0001c0002t0003g0227 a0001c0002t0003g0257 a0001c0002t0003g0299 a0001c0002t0008g0213 a0001c0002t0008g0217 a0001c0002t0016g0080 a0001c0002t0023g0222 a0001c0002t0035g0293 a0001c0008t0006g0017 a0001c0008t0006g0280 a0001c0008t0006g0281 a0001c0008t0020g0006 a0001c0014t0003g0308 a0001c0037t0003g0110 a0001c0040t0001g0313 a0001c0056t0017g0074 a0002c0004t0002g0188 a0002c0004t0002g0245 a0002c0004t0007g0190 a0003c0003t0004g0044 a0003c0003t0004g0049 a0003c0003t0004g0051 a0003c0003t0004g0053 a0003c0003t0004g0055 a0003c0003t0004g0057 a0003c0003t0004g0314 a0003c0003t0009g0005 a0003c0003t0009g0033 a0003c0003t0015g0060 a0003c0003t0044g0046 a0004c0007t0005g0013 a0004c0007t0005g0289 a0004c0007t0005g0292 a0005c0006t0012g0151 a0008c0059t0003g0091 a0013c0022t0003g0284 a0016c0035t0012g0103 a0019c0036t0001g0114	68	85	0.8000	20	c.164 others(35): Show c.1640-56_1640-37dupCTTTCTTTCTTTCTTTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	12/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32385007	A A	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0027 a0001c0046t0027	a0001c0046t0027g0063 a0001c0046t0027g0063	1	231	0.0043	20	c.282 others(35): Show c.282+518_282+537dupCTTTCTTTCTTTCTTTCTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	2/38			chr21	TogoVar
URI1_chr19_29937239_30021612	29985119	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0297 a0002c0002t0002g0297	1	2	0.5000	20	c.153 others(33): Show c.153-65_153-46dupAAAAAAAAAAAAAAAAAAAA	URI1	ENSG00000105176.18	transcript	ENST00000392271.6	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
URM1_chr9_128366374_128397016	128371219	G G	GCCCTCCC others(13): Show GCCCTCCCCTCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02559.hp2 HG02723.hp1 others(3): Show HG02280.hp2 HG02559.hp2 HG02723.hp1 HG02976.hp1 HG03098.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0016 a0001c0001t0008g0032 a0001c0001t0012g0016 others(1): Show a0001c0001t0008g0016 a0001c0001t0008g0032 a0001c0001t0012g0016 a0001c0001t0012g0076	6	183	0.0328	20	c.-16 others(29): Show c.-162_-161insCCCTCCCCTCCCCTCCCCTC	URM1	ENSG00000167118.11	transcript	ENST00000372853.9	protein_coding		154		chr9	TogoVar
USH2A_chr1_215617891_216428448	215627441	C C	CTTCCTTC others(13): Show CTTCCTTCTTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0028 a0028	a0028c0005 a0028c0005	a0028c0005t0002 a0028c0005t0002	a0028c0005t0002g0022 a0028c0005t0002g0022	1	53	0.0189	20	c.155 others(41): Show c.15519+1372_15519+1373insAGAAGGAAGGAAAGAAGGAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	71/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215627449	C C	CTTCCTTC others(13): Show CTTCCTTCTTTCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0061 a0061	a0061c0012 a0061c0012	a0061c0012t0002 a0061c0012t0002	a0061c0012t0002g0005 a0061c0012t0002g0005	1	52	0.0192	20	c.155 others(41): Show c.15519+1364_15519+1365insAGAAGGAAGGAAAGAAGGAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	71/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215693116	G G	GTGTATGT others(13): Show GTGTATGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0004 a0004	a0004c0069 a0004c0069	a0004c0069t0001 a0004c0069t0001	a0004c0069t0001g0057 a0004c0069t0001g0057	1	46	0.0217	20	c.120 others(43): Show c.12067-12741_12067-12740insTATATATATATACACATACA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	61/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215728582	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0037 a0037	a0037c0011 a0037c0011	a0037c0011t0001 a0037c0011t0001	a0037c0011t0001g0046 a0037c0011t0001g0046	1	16	0.0625	20	c.117 others(39): Show c.11712-218_11712-199dupGTGTGTGTGTGTGTGTGTGT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	60/71			chr1	TogoVar

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