Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UNC79_chr14_93425939_93712876	93454444	T T	TGTGTATG others(4): Show TGTGTATGTAGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02109.hp1 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18962.hp2 NA18968.hp2 NA18981.hp2 NA18988.hp2 NA19012.hp2 NA19030.hp2 NA19062.hp2 NA19064.hp1 NA19079.hp1 NA19081.hp1 NA19087.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0001 a0001c0002 a0001c0005 others(17): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0001c0019 a0001c0023 a0001c0042 a0002c0003 a0002c0008 a0002c0010 a0002c0015 a0002c0038 a0002c0039 a0002c0040 a0003c0004 a0003c0022 a0003c0036 a0004c0012 a0005c0037 a0011c0032	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(17): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0011t0001 a0001c0019t0001 a0001c0023t0001 a0001c0042t0001 a0002c0003t0001 a0002c0008t0001 a0002c0010t0001 a0002c0015t0001 a0002c0038t0001 a0002c0039t0001 a0002c0040t0001 a0003c0004t0001 a0003c0022t0001 a0003c0036t0001 a0004c0012t0001 a0005c0037t0001 a0011c0032t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 others(79): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0005t0001g0110 a0001c0005t0001g0144 a0001c0005t0001g0153 a0001c0005t0001g0163 a0001c0011t0001g0128 a0001c0011t0001g0129 a0001c0011t0001g0151 a0001c0011t0001g0156 a0001c0019t0001g0171 a0001c0023t0001g0162 a0001c0023t0001g0164 a0001c0042t0001g0119 a0002c0003t0001g0087 a0002c0003t0001g0091 a0002c0003t0001g0099 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0112 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0142 a0002c0003t0001g0150 a0002c0003t0001g0152 a0002c0008t0001g0095 a0002c0008t0001g0138 a0002c0008t0001g0139 a0002c0008t0001g0140 a0002c0008t0001g0141 a0002c0010t0001g0092 a0002c0010t0001g0113 a0002c0010t0001g0149 a0002c0010t0001g0158 a0002c0015t0001g0093 a0002c0038t0001g0105 a0002c0039t0001g0157 a0002c0040t0001g0097 a0003c0004t0001g0096 a0003c0004t0001g0098 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0108 a0003c0004t0001g0109 a0003c0004t0001g0111 a0003c0004t0001g0124 a0003c0004t0001g0125 a0003c0004t0001g0126 a0003c0004t0001g0127 a0003c0004t0001g0154 a0003c0004t0001g0155 a0003c0022t0001g0130 a0003c0022t0001g0131 a0003c0036t0001g0123 a0004c0012t0001g0145 a0004c0012t0001g0146 a0004c0012t0001g0147 a0004c0012t0001g0148 a0005c0037t0001g0094 a0011c0032t0001g0182	82	192	0.4271	11	c.23- others(28): Show c.23-13227_23-13226insGTGTATGTAGC	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51			chr14	TogoVar
UNC79_chr14_93425939_93712876	93459674	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp1 HG03516.hp1 others(3): Show HG02717.hp2 HG02922.hp1 HG03516.hp1 HG06807.hp2 NA18981.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0019 others(3): Show a0001c0001 a0001c0005 a0001c0019 a0001c0034 a0001c0035 a0002c0003	a0001c0001t0001 a0001c0005t0001 a0001c0019t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0001c0019t0001 a0001c0034t0001 a0001c0035t0001 a0002c0003t0001	a0001c0001t0001g0012 a0001c0005t0001g0010 a0001c0019t0001g0002 others(3): Show a0001c0001t0001g0012 a0001c0005t0001g0010 a0001c0019t0001g0002 a0001c0034t0001g0009 a0001c0035t0001g0011 a0002c0003t0001g0104	6	72	0.0833	11	c.23- others(26): Show c.23-7993_23-7983dupTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93467628	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03209.hp1 HG03225.hp2 HG00639.hp2 HG03209.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0023 a0001c0002 a0001c0016 a0001c0023	a0001c0002t0001 a0001c0016t0001 a0001c0023t0001 a0001c0002t0001 a0001c0016t0001 a0001c0023t0001	a0001c0002t0001g0166 a0001c0016t0001g0189 a0001c0023t0001g0164 a0001c0002t0001g0166 a0001c0016t0001g0189 a0001c0023t0001g0164	3	10	0.3000	11	c.23- others(22): Show c.23-23_23-13dupTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93558593	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	3	0.3333	11	c.175 others(32): Show c.1756-13267_1756-13257dupTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209862649	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02486.hp1 others(6): Show HG02055.hp1 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03492.hp1 HG03540.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0006 a0001c0009 a0001c0010 others(4): Show a0001c0006 a0001c0009 a0001c0010 a0001c0022 a0001c0029 a0005c0046 a0006c0017	a0001c0006t0001 a0001c0009t0001 a0001c0009t0018 others(6): Show a0001c0006t0001 a0001c0009t0001 a0001c0009t0018 a0001c0010t0001 a0001c0022t0017 a0001c0029t0001 a0005c0046t0001 a0006c0017t0001 a0006c0017t0002	a0001c0006t0001g0089 a0001c0009t0001g0024 a0001c0009t0018g0002 others(6): Show a0001c0006t0001g0089 a0001c0009t0001g0024 a0001c0009t0018g0002 a0001c0010t0001g0023 a0001c0022t0017g0180 a0001c0029t0001g0045 a0005c0046t0001g0101 a0006c0017t0001g0017 a0006c0017t0002g0016	9	145	0.0621	11	c.362 others(32): Show c.3628-10100_3628-10090dupTTTTTTTTTTT	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93A_chr6_167286315_167321014	167305102	T T	TCCGTCCC others(4): Show TCCGTCCCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0020 a0022 a0023 a0025 a0026 a0027 a0028	a0001c0001 a0001c0013 a0001c0023 others(33): Show a0001c0001 a0001c0013 a0001c0023 a0001c0036 a0002c0002 a0003c0003 a0003c0009 a0003c0020 a0003c0029 a0003c0030 a0004c0004 a0004c0008 a0004c0011 a0004c0026 a0004c0027 a0004c0028 a0005c0010 a0005c0016 a0007c0006 a0008c0007 a0009c0012 a0010c0014 a0011c0040 a0012c0015 a0013c0022 a0013c0042 a0014c0021 a0015c0018 a0017c0035 a0020c0039 a0022c0038 a0023c0037 a0025c0024 a0026c0034 a0027c0031 a0028c0032	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0013t0001 a0001c0013t0002 a0001c0023t0001 a0001c0036t0001 a0002c0002t0004 a0002c0002t0005 a0003c0003t0003 a0003c0003t0006 a0003c0003t0008 a0003c0009t0007 a0003c0020t0007 a0003c0029t0006 a0003c0030t0006 a0004c0004t0003 a0004c0004t0006 a0004c0008t0001 a0004c0008t0004 a0004c0011t0004 a0004c0026t0003 a0004c0027t0001 a0004c0028t0001 a0005c0010t0001 a0005c0010t0004 a0005c0010t0005 a0005c0016t0004 a0005c0016t0005 a0007c0006t0002 a0008c0007t0005 a0009c0012t0003 a0009c0012t0006 a0010c0014t0001 a0011c0040t0003 a0012c0015t0001 a0012c0015t0002 a0013c0022t0002 a0013c0042t0005 a0014c0021t0004 a0015c0018t0005 a0017c0035t0002 a0020c0039t0003 a0022c0038t0005 a0023c0037t0006 a0025c0024t0001 a0026c0034t0002 a0027c0031t0002 a0028c0032t0002	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 others(261): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0105 a0001c0001t0001g0148 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0314 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0014 a0001c0001t0002g0019 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0002g0062 a0001c0001t0002g0097 a0001c0001t0002g0147 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0196 a0001c0001t0002g0201 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0242 a0001c0001t0002g0257 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0280 a0001c0001t0002g0283 a0001c0001t0002g0330 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0004g0064 a0001c0001t0004g0209 a0001c0001t0004g0256 a0001c0001t0004g0329 a0001c0001t0004g0347 a0001c0001t0004g0350 a0001c0001t0005g0090 a0001c0001t0005g0101 a0001c0001t0005g0164 a0001c0001t0005g0181 a0001c0001t0005g0214 a0001c0001t0011g0294 a0001c0013t0001g0295 a0001c0013t0001g0319 a0001c0013t0001g0320 a0001c0013t0001g0323 a0001c0013t0002g0104 a0001c0013t0002g0145 a0001c0013t0002g0176 a0001c0023t0001g0004 a0001c0036t0001g0225 a0002c0002t0004g0016 a0002c0002t0004g0032 a0002c0002t0004g0052 a0002c0002t0004g0206 a0002c0002t0004g0230 a0002c0002t0004g0262 a0002c0002t0004g0264 a0002c0002t0004g0265 a0002c0002t0004g0266 a0002c0002t0004g0301 a0002c0002t0004g0304 a0002c0002t0005g0008 a0002c0002t0005g0013 a0002c0002t0005g0058 a0002c0002t0005g0159 a0002c0002t0005g0166 a0002c0002t0005g0233 a0002c0002t0005g0275 a0002c0002t0005g0279 a0002c0002t0005g0282 a0003c0003t0003g0031 a0003c0003t0003g0033 a0003c0003t0003g0044 a0003c0003t0003g0055 a0003c0003t0003g0059 a0003c0003t0003g0076 a0003c0003t0003g0146 a0003c0003t0003g0153 a0003c0003t0003g0207 a0003c0003t0003g0213 a0003c0003t0003g0223 a0003c0003t0003g0224 a0003c0003t0003g0237 a0003c0003t0003g0249 a0003c0003t0003g0306 a0003c0003t0003g0308 a0003c0003t0003g0311 a0003c0003t0003g0315 a0003c0003t0003g0318 a0003c0003t0006g0018 a0003c0003t0006g0041 a0003c0003t0006g0057 a0003c0003t0006g0095 a0003c0003t0006g0103 a0003c0003t0006g0161 a0003c0003t0006g0165 a0003c0003t0006g0171 a0003c0003t0006g0177 a0003c0003t0006g0179 a0003c0003t0006g0180 a0003c0003t0006g0193 a0003c0003t0006g0195 a0003c0003t0006g0202 a0003c0003t0006g0211 a0003c0003t0006g0238 a0003c0003t0006g0274 a0003c0003t0006g0333 a0003c0003t0006g0335 a0003c0003t0006g0339 a0003c0003t0006g0344 a0003c0003t0008g0336 a0003c0003t0008g0337 a0003c0009t0007g0089 a0003c0020t0007g0025 a0003c0029t0006g0160 a0003c0030t0006g0346 a0004c0004t0003g0006 a0004c0004t0003g0011 a0004c0004t0003g0029 a0004c0004t0003g0030 a0004c0004t0003g0092 a0004c0004t0003g0102 a0004c0004t0003g0108 a0004c0004t0003g0110 a0004c0004t0003g0114 a0004c0004t0003g0115 a0004c0004t0003g0116 a0004c0004t0003g0122 a0004c0004t0003g0123 a0004c0004t0003g0124 a0004c0004t0003g0133 a0004c0004t0003g0134 a0004c0004t0003g0135 a0004c0004t0003g0138 a0004c0004t0006g0142 a0004c0008t0001g0084 a0004c0008t0001g0111 a0004c0008t0001g0112 a0004c0008t0001g0117 a0004c0008t0001g0118 a0004c0008t0001g0121 a0004c0008t0001g0125 a0004c0008t0001g0126 a0004c0008t0001g0128 a0004c0008t0001g0132 a0004c0008t0004g0107 a0004c0008t0004g0120 a0004c0011t0004g0012 a0004c0011t0004g0136 a0004c0011t0004g0137 a0004c0026t0003g0113 a0004c0027t0001g0212 a0004c0028t0001g0119 a0005c0010t0001g0047 a0005c0010t0004g0047 a0005c0010t0004g0235 a0005c0010t0004g0246 a0005c0010t0004g0267 a0005c0010t0004g0276 a0005c0010t0004g0317 a0005c0010t0005g0088 a0005c0010t0005g0186 a0005c0016t0004g0271 a0005c0016t0005g0026 a0007c0006t0002g0056 a0007c0006t0002g0334 a0008c0007t0005g0005 a0008c0007t0005g0010 a0008c0007t0005g0020 a0008c0007t0005g0066 a0008c0007t0005g0067 a0008c0007t0005g0068 a0008c0007t0005g0069 a0009c0012t0003g0226 a0009c0012t0003g0251 a0009c0012t0003g0312 a0009c0012t0003g0324 a0009c0012t0006g0027 a0009c0012t0006g0100 a0009c0012t0006g0144 a0010c0014t0001g0034 a0010c0014t0001g0152 a0010c0014t0001g0284 a0010c0014t0001g0316 a0011c0040t0003g0260 a0012c0015t0001g0004 a0012c0015t0001g0288 a0012c0015t0001g0302 a0012c0015t0002g0173 a0013c0022t0002g0091 a0013c0022t0002g0098 a0013c0042t0005g0172 a0014c0021t0004g0239 a0014c0021t0004g0240 a0015c0018t0005g0005 a0015c0018t0005g0070 a0017c0035t0002g0019 a0020c0039t0003g0217 a0022c0038t0005g0143 a0023c0037t0006g0094 a0025c0024t0001g0321 a0026c0034t0002g0039 a0027c0031t0002g0065 a0028c0032t0002g0197	327	414	0.7899	11	c.841 others(26): Show c.841-811_841-810insGTCCCCACCCC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93A_chr6_167286315_167321014	167305102	T T	TCCGTCCC others(4): Show TCCGTCCCCATC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01109.hp1 HG01884.hp2 others(29): Show HG00323.hp2 HG01109.hp1 HG01884.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02129.hp2 HG02165.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03098.hp2 HG03195.hp1 HG03579.hp2 HG03704.hp1 HG03927.hp2 NA18906.hp2 NA18947.hp2 NA18953.hp1 NA18977.hp2 NA18991.hp1 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19081.hp2 NA19090.hp1	a0003 a0004 a0006 others(4): Show a0003 a0004 a0006 a0011 a0018 a0019 a0021	a0003c0009 a0004c0004 a0004c0019 others(5): Show a0003c0009 a0004c0004 a0004c0019 a0006c0005 a0011c0017 a0018c0045 a0019c0044 a0021c0041	a0003c0009t0001 a0003c0009t0002 a0004c0004t0003 others(8): Show a0003c0009t0001 a0003c0009t0002 a0004c0004t0003 a0004c0019t0001 a0006c0005t0003 a0006c0005t0006 a0006c0005t0009 a0011c0017t0001 a0018c0045t0005 a0019c0044t0006 a0021c0041t0004	a0003c0009t0001g0050 a0003c0009t0001g0072 a0003c0009t0001g0151 others(24): Show a0003c0009t0001g0050 a0003c0009t0001g0072 a0003c0009t0001g0151 a0003c0009t0001g0270 a0003c0009t0001g0322 a0003c0009t0002g0063 a0003c0009t0002g0085 a0003c0009t0002g0157 a0003c0009t0002g0194 a0004c0004t0003g0130 a0004c0004t0003g0216 a0004c0019t0001g0129 a0004c0019t0001g0131 a0006c0005t0003g0023 a0006c0005t0003g0024 a0006c0005t0006g0043 a0006c0005t0006g0141 a0006c0005t0006g0188 a0006c0005t0006g0252 a0006c0005t0006g0268 a0006c0005t0006g0272 a0006c0005t0009g0247 a0011c0017t0001g0060 a0011c0017t0001g0349 a0018c0045t0005g0096 a0019c0044t0006g0099 a0021c0041t0004g0348	32	119	0.2689	11	c.841 others(26): Show c.841-811_841-810insGTCCCCATCCC	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
UNC93B1_chr11_67986100_68009097	67995576	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02148.hp1 HG03704.hp1 others(1): Show HG00597.hp2 HG02148.hp1 HG03704.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0078 a0001c0003t0003g0080 a0001c0003t0003g0084 others(1): Show a0001c0003t0003g0078 a0001c0003t0003g0080 a0001c0003t0003g0084 a0001c0003t0003g0096	4	146	0.0274	11	c.136 others(26): Show c.1363+24_1363+34dupGGGGGGGGGGG	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	9/10			chr11	TogoVar
UNKL_chr16_1358205_1419704	1400417	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0309 a0001c0001t0071g0309	1	2	0.5000	11	c.599 others(26): Show c.599-919_599-909dupTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02055.hp2 HG02717.hp1 others(3): Show HG00738.hp1 HG02055.hp2 HG02717.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0008 a0001c0002t0001 a0001c0011t0004 a0001c0001t0008 a0001c0002t0001 a0001c0011t0004	a0001c0001t0008g0118 a0001c0001t0008g0267 a0001c0001t0008g0270 others(3): Show a0001c0001t0008g0118 a0001c0001t0008g0267 a0001c0001t0008g0270 a0001c0001t0008g0271 a0001c0002t0001g0041 a0001c0011t0004g0197	6	109	0.0550	11	c.-26 others(22): Show c.-2642_-2641insTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UPF1_chr19_18826959_18873230	18861471	T T	TGAGCACG others(4): Show TGAGCACGGCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	392	0.0026	11	c.245 others(28): Show c.2457+490_2457+500dupGAGCACGGCTC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding	17/23		INFO_REALIGN_3_PRIME	chr19	TogoVar
UPF2_chr10_11915022_12047809	11938841	A A	AGTTTTTT others(4): Show AGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	330	0.0030	11	c.337 others(30): Show c.3379-2140_3379-2130dupAAAAAAAAAAC	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938843	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	332	0.0030	11	c.337 others(30): Show c.3379-2132_3379-2131insCAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03471.hp1 HG03492.hp1 others(7): Show HG02071.hp2 HG03471.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 NA18941.hp2 NA18947.hp2 NA19054.hp2 NA19064.hp2 NA19079.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0009 a0001c0002t0011 others(1): Show a0001c0002t0001 a0001c0002t0009 a0001c0002t0011 a0002c0003t0001	a0001c0002t0001g0218 a0001c0002t0001g0234 a0001c0002t0001g0246 others(7): Show a0001c0002t0001g0218 a0001c0002t0001g0234 a0001c0002t0001g0246 a0001c0002t0001g0270 a0001c0002t0001g0285 a0001c0002t0001g0293 a0001c0002t0001g0317 a0001c0002t0009g0278 a0001c0002t0011g0274 a0002c0003t0001g0121	10	72	0.1389	11	c.337 others(30): Show c.3379-2152_3379-2142dupAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938865	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0283 a0001c0002t0001g0283	1	332	0.0030	11	c.337 others(30): Show c.3379-2154_3379-2153insCAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11985884	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(106): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18941.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18955.hp1 NA18961.hp2 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18989.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19004.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp2 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0009 a0001c0002t0011 a0001c0005t0001 a0002c0003t0002 a0002c0003t0008 a0003c0007t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 others(106): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0100 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0003g0003 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0213 a0001c0001t0004g0321 a0001c0001t0004g0324 a0001c0001t0004g0328 a0001c0001t0004g0329 a0001c0001t0010g0002 a0001c0001t0012g0161 a0001c0001t0014g0203 a0001c0001t0015g0178 a0001c0002t0001g0113 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0001g0254 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0288 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0296 a0001c0002t0001g0301 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0009g0278 a0001c0002t0011g0274 a0001c0005t0001g0011 a0001c0005t0001g0012 a0001c0005t0001g0013 a0002c0003t0002g0118 a0002c0003t0002g0124 a0002c0003t0008g0125 a0002c0003t0008g0126 a0003c0007t0002g0143	109	162	0.6728	11	c.184 others(30): Show c.1845-6730_1845-6720dupAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11994975	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18984.hp1 NA19083.hp1 HG00438.hp1 NA18984.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0003g0029 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0003g0029	3	115	0.0261	11	c.184 others(30): Show c.1844+2686_1844+2696dupTTTTTTTTTTT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	8/21			chr10	TogoVar
UPF3B_chrX_119829022_119857963	119842605	T T	TACACCAC others(4): Show TACACCACACAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	77	0.0130	11	c.580 others(26): Show c.580+585_580+586insGTGTGTGGTGT	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10			chrX	TogoVar
UPK1B_chr3_119168598_119210143	119179507	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00741.hp1 others(40): Show HG00099.hp1 HG00621.hp2 HG00741.hp1 HG01069.hp1 HG01109.hp2 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01496.hp1 HG01516.hp2 HG01891.hp2 HG01975.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG02896.hp1 HG02970.hp1 HG03139.hp2 HG03239.hp2 HG03486.hp1 HG03491.hp2 HG03654.hp1 HG03710.hp2 HG04115.hp1 NA18948.hp1 NA18965.hp1 NA18969.hp2 NA18977.hp2 NA18980.hp2 NA19001.hp2 NA19005.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19079.hp1 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002 a0003c0003t0004 a0004c0005t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(37): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0257 a0001c0001t0001g0291 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0340 a0001c0001t0001g0379 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0132 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0336 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0351 a0002c0002t0002g0348 a0003c0003t0002g0349 a0003c0003t0004g0333 a0003c0003t0004g0344 a0004c0005t0001g0352 a0004c0005t0001g0353	43	154	0.2792	11	c.-29 others(28): Show c.-29+5879_-29+5889dupTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK1B_chr3_119168598_119210143	119203349	A A	AAAAACAA others(4): Show AAAAACAAAAAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG01109.hp2 others(35): Show HG00639.hp2 HG00673.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01891.hp2 HG01952.hp2 HG02280.hp2 HG02293.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03579.hp1 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18949.hp2 NA18963.hp2 NA18986.hp1 NA19010.hp1 NA19030.hp2 NA19070.hp1 NA19079.hp1 NA19083.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0001g0308 others(26): Show a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0002g0132 a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0036 a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0074 a0002c0002t0001g0104 a0002c0002t0001g0133 a0002c0002t0001g0148 a0002c0002t0001g0167 a0002c0002t0001g0177 a0002c0002t0001g0241 a0002c0002t0001g0243 a0002c0002t0001g0249 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0002g0348 a0002c0002t0002g0358	38	420	0.0905	11	c.733 others(26): Show c.733-564_733-563insCAAAAACAAAA	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK3BL1_chr7_102632025_102647791	102639963	C C	CAAAACAA others(4): Show CAAAACAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	66	0.0152	11	c.485 others(26): Show c.485+240_485+241insTTTTTTGTTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding	3/5			chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102639967	A A	ACAAAAAA others(4): Show ACAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0027 a0002c0002t0002g0027	1	137	0.0073	11	c.485 others(26): Show c.485+236_485+237insGTTTTTTTTTG	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540855	C C	CAAAACAA others(4): Show CAAAACAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01071.hp2 HG00735.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	74	0.0270	11	c.485 others(26): Show c.485+237_485+238insTTTTTTGTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102544258	A A	ATTATTAT others(4): Show ATTATTATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0004 a0002c0002t0003g0004	1	111	0.0090	11	c.-62 others(20): Show c.-623_-622insAAAAATAATAA	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		563		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102544268	T T	TTTTTTTT others(4): Show TTTTTTTTTTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	104	0.0096	11	c.-63 others(20): Show c.-633_-632insCCAAAAAAAAA	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		573		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(4): Show GGAAAGAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	30	0.0333	11	c.-41 others(22): Show c.-4197_-4196insTTTCTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPP2_chr2_158096876_158141154	158110370	T T	TATATGCA others(4): Show TATATGCACCAC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03942.hp1 HG02735.hp2 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0054 a0002c0002t0011g0055 a0002c0002t0011g0054 a0002c0002t0011g0055	2	340	0.0059	11	c.180 others(28): Show c.180+4156_180+4157insATGCACCACAT	UPP2	ENSG00000007001.13	transcript	ENST00000005756.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
UQCC1_chr20_35297578_35416973	35338886	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19055.hp2 NA18949.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0153 a0001c0001t0002g0145 a0001c0001t0002g0153	2	224	0.0089	11	c.573 others(28): Show c.573+8277_573+8278insATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338888	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02145.hp1 HG02809.hp2 others(1): Show HG02015.hp1 HG02145.hp1 HG02809.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0139 a0001c0001t0001g0236 a0001c0001t0002g0106 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0236 a0001c0001t0002g0106 a0001c0001t0002g0108	4	176	0.0227	11	c.573 others(28): Show c.573+8275_573+8276insATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338890	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02886.hp1 HG02630.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0237 a0001c0001t0001g0141 a0001c0001t0001g0237	2	104	0.0192	11	c.573 others(28): Show c.573+8273_573+8274insATATATATATA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35384966	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0004 a0003c0003t0002g0004	1	115	0.0087	11	c.130 others(26): Show c.130-844_130-834dupTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	2/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35388308	T T	TTTTTTTT others(4): Show TTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp1 others(98): Show HG00140.hp1 HG00323.hp1 HG00558.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18961.hp2 NA18967.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA19004.hp1 NA19005.hp1 NA19043.hp2 NA19055.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0003c0003t0002 a0003c0003t0004	a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 others(98): Show a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0041 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0002g0028 a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0051 a0002c0002t0003g0058 a0002c0002t0003g0098 a0002c0002t0004g0009 a0002c0002t0004g0031 a0002c0002t0004g0037 a0002c0002t0004g0038 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0061 a0002c0002t0006g0084 a0003c0003t0002g0004 a0003c0003t0002g0005 a0003c0003t0002g0006 a0003c0003t0004g0003	101	239	0.4226	11	c.130 others(28): Show c.130-4176_130-4175insCAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	2/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35415259	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	6	0.1667	11	c.-32 others(22): Show c.-3297_-3296insAAAAAAAAAAA	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding		3287		chr20	TogoVar
UQCC2_chr6_33691764_33716700	33709121	G G	GAGGTGAA others(4): Show GAGGTGAATTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	400	0.0025	11	c.138 others(28): Show c.138+2427_138+2428insAAAATTCACCT	UQCC2	ENSG00000137288.10	transcript	ENST00000607484.6	protein_coding	1/3			chr6	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01069.hp2 others(30): Show HG00642.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG02055.hp1 HG02074.hp2 HG02300.hp1 HG02559.hp2 HG02683.hp1 HG02818.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03688.hp1 NA18961.hp2 NA18972.hp2 NA18994.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0028	33	38	0.8684	11	c.21 others(22): Show c.2134_*2135insAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar
UQCR11_chr19_1592169_1610462	1592382	C C	CACGCACG others(4): Show CACGCACGCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	11	c.58 others(22): Show c.5851_*5861dupCTTGCGTGCGT	UQCR11	ENSG00000127540.12	transcript	ENST00000591899.8	protein_coding		4786		chr19	TogoVar
UQCRB_chr8_96217947_96240545	96230890	G G	GATTCAGT others(4): Show GATTCAGTAGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0044 a0001c0001t0032g0044	1	382	0.0026	11	c.15 others(20): Show c.154_*164dupAACTACTGAAT	UQCRB	ENSG00000156467.10	transcript	ENST00000287022.10	protein_coding	4/4	164		chr8	TogoVar
UQCRFS1_chr19_29200320_29218151	29217193	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp2 HG01928.hp2 others(7): Show HG01433.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG02055.hp1 HG02109.hp2 HG02809.hp1 HG02818.hp1 NA18979.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0053 others(4): Show a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0003g0003 a0001c0001t0003g0075 a0001c0001t0006g0015	10	30	0.3333	11	c.-40 others(22): Show c.-4076_-4075insAAAAAAAAAAA	UQCRFS1	ENSG00000169021.6	transcript	ENST00000304863.6	protein_coding		4043		chr19	TogoVar
UROC1_chr3_126476166_126522773	126514273	A A	ACGCTGGC others(4): Show ACGCTGGCCATC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	378	0.0026	11	c.126 others(28): Show c.126+3310_126+3320dupGATGGCCAGCG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
UROS_chr10_125783586_125828258	125826996	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01069.hp2 HG01071.hp2 others(28): Show HG00438.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02155.hp2 HG02717.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03490.hp1 HG03540.hp2 HG03654.hp2 HG04204.hp2 NA18906.hp1 NA18948.hp1 NA18953.hp1 NA18972.hp1 NA18992.hp2 NA18998.hp1 NA19057.hp2 NA19070.hp2 NA19081.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0033 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0235 a0001c0001t0002g0004 a0001c0001t0002g0028 a0001c0001t0002g0060 a0001c0001t0002g0097 a0001c0001t0002g0107 a0002c0002t0004g0051 a0002c0002t0004g0240 a0002c0002t0004g0241 a0004c0007t0001g0136	31	161	0.1925	11	c.-39 others(22): Show c.-3995_-3994insTTTTTTTTTTT	UROS	ENSG00000188690.16	transcript	ENST00000368797.10	protein_coding		3739		chr10	TogoVar
USB1_chr16_57996407_58026618	58007636	C C	CCTCCCAA others(4): Show CCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0117 a0001c0001t0013g0117	1	334	0.0030	11	c.266 others(28): Show c.266-2290_266-2280dupCCCAAAGTGCT	USB1	ENSG00000103005.13	transcript	ENST00000219281.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
USE1_chr19_17210357_17224829	17224291	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00642.hp1 others(20): Show HG00099.hp1 HG00140.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01099.hp2 HG01243.hp2 HG01358.hp1 HG01517.hp1 HG02897.hp1 HG03130.hp1 HG03492.hp2 HG03669.hp1 HG03927.hp1 NA18747.hp1 NA18946.hp1 NA18961.hp2 NA18997.hp1 NA19056.hp2 NA19058.hp1 NA19074.hp1 NA19075.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0064 a0002c0002t0001g0003 a0002c0002t0001g0066 a0003c0003t0001g0001	23	32	0.7188	11	c.44 others(22): Show c.4478_*4479insTTTTTTTTTTT	USE1	ENSG00000053501.14	transcript	ENST00000263897.10	protein_coding		4463		chr19	TogoVar
USH2A_chr1_215617891_216428448	215655725	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0059 a0059	a0059c0025 a0059c0025	a0059c0025t0001 a0059c0025t0001	a0059c0025t0001g0039 a0059c0025t0001g0039	1	47	0.0213	11	c.141 others(32): Show c.14134-4935_14134-4925dupAAAAAAAAAAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	64/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	215686768	C C	CAATAAGT others(4): Show CAATAAGTATAG	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02004.hp1 HG02735.hp1 others(9): Show HG01071.hp2 HG02004.hp1 HG02735.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp1 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0002 a0007 a0015 others(9): Show a0002 a0007 a0015 a0042 a0044 a0047 a0049 a0050 a0060 a0062 a0067 a0069	a0002c0072 a0007c0036 a0015c0064 others(9): Show a0002c0072 a0007c0036 a0015c0064 a0042c0056 a0044c0016 a0047c0044 a0049c0054 a0050c0013 a0060c0014 a0062c0042 a0067c0024 a0069c0066	a0002c0072t0001 a0007c0036t0001 a0015c0064t0001 others(9): Show a0002c0072t0001 a0007c0036t0001 a0015c0064t0001 a0042c0056t0005 a0044c0016t0001 a0047c0044t0002 a0049c0054t0003 a0050c0013t0001 a0060c0014t0003 a0062c0042t0001 a0067c0024t0005 a0069c0066t0002	a0002c0072t0001g0050 a0007c0036t0001g0027 a0015c0064t0001g0051 others(9): Show a0002c0072t0001g0050 a0007c0036t0001g0027 a0015c0064t0001g0051 a0042c0056t0005g0070 a0044c0016t0001g0009 a0047c0044t0002g0073 a0049c0054t0003g0071 a0050c0013t0001g0023 a0060c0014t0003g0006 a0062c0042t0001g0031 a0067c0024t0005g0040 a0069c0066t0002g0049	12	72	0.1667	11	c.120 others(32): Show c.12067-6403_12067-6393dupCTATACTTATT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	61/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216023459	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01069.hp2 HG00140.hp1 HG01069.hp2	a0004 a0006 a0004 a0006	a0004c0069 a0006c0073 a0004c0069 a0006c0073	a0004c0069t0001 a0006c0073t0001 a0004c0069t0001 a0006c0073t0001	a0004c0069t0001g0057 a0006c0073t0001g0054 a0004c0069t0001g0057 a0006c0073t0001g0054	2	6	0.3333	11	c.632 others(32): Show c.6326-22908_6326-22898dupTTTTTTTTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	32/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216050605	T T	TTTCTTTC others(4): Show TTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0025 a0025	a0025c0026 a0025c0026	a0025c0026t0001 a0025c0026t0001	a0025c0026t0001g0038 a0025c0026t0001g0038	1	65	0.0154	11	c.605 others(30): Show c.6050-1959_6050-1958insGAAAGAAAGAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	30/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216200970	C C	CCATCCCT others(4): Show CCATCCCTCCCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0005 a0012c0021t0005	a0012c0021t0005g0003 a0012c0021t0005g0003	1	64	0.0156	11	c.331 others(28): Show c.3317-850_3317-849insAGGGAGGGATG	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	16/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216370677	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01069.hp1 HG01071.hp1 others(3): Show HG00140.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG02451.hp1 HG02647.hp1	a0001 a0005 a0007 others(2): Show a0001 a0005 a0007 a0021 a0029	a0001c0001 a0005c0029 a0007c0036 others(2): Show a0001c0001 a0005c0029 a0007c0036 a0021c0030 a0029c0043	a0001c0001t0002 a0005c0029t0007 a0007c0036t0001 others(2): Show a0001c0001t0002 a0005c0029t0007 a0007c0036t0001 a0021c0030t0001 a0029c0043t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0005c0029t0007g0043 others(3): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0005c0029t0007g0043 a0007c0036t0001g0027 a0021c0030t0001g0048 a0029c0043t0002g0047	6	19	0.3158	11	c.652 others(28): Show c.652-5603_652-5593dupTTTTTTTTTTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216377807	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0004 a0014c0023t0004	a0014c0023t0004g0013 a0014c0023t0004g0013	1	44	0.0227	11	c.652 others(30): Show c.652-12723_652-12722insCTTTCTTTCTT	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71			chr1	TogoVar
USH2A_chr1_215617891_216428448	216394720	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp2 HG02717.hp2 others(4): Show HG02451.hp1 HG02559.hp2 HG02717.hp2 HG02735.hp2 HG03225.hp2 HG03453.hp2 NA19043.hp2	a0021 a0024 a0034 others(4): Show a0021 a0024 a0034 a0035 a0049 a0051 a0063	a0021c0030 a0024c0032 a0034c0045 others(4): Show a0021c0030 a0024c0032 a0034c0045 a0035c0033 a0049c0054 a0051c0035 a0063c0052	a0021c0030t0001 a0024c0032t0005 a0034c0045t0006 others(4): Show a0021c0030t0001 a0024c0032t0005 a0034c0045t0006 a0035c0033t0001 a0049c0054t0003 a0051c0035t0001 a0063c0052t0003	a0021c0030t0001g0048 a0024c0032t0005g0032 a0034c0045t0006g0028 others(4): Show a0021c0030t0001g0048 a0024c0032t0005g0032 a0034c0045t0006g0028 a0035c0033t0001g0037 a0049c0054t0003g0071 a0051c0035t0001g0025 a0063c0052t0003g0072	7	47	0.1489	11	c.651 others(30): Show c.651+23783_651+23793dupAAAAAAAAAAA	USH2A	ENSG00000042781.14	transcript	ENST00000307340.8	protein_coding	3/71			chr1	TogoVar

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