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
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0125 a0001c0005t0003g0125	1	199	0.0050	33	c.41 others(44): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA19000.hp2 NA19030.hp2 NA18943.hp2 NA19000.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0005 a0001c0003t0001 a0001c0005t0005	a0001c0003t0001g0148 a0001c0003t0001g0276 a0001c0005t0005g0371 a0001c0003t0001g0148 a0001c0003t0001g0276 a0001c0005t0005g0371	3	201	0.0149	33	c.41 others(44): Show c.4105_*4106insATATATATATATATATATATATTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180320982	A A	ATACAAAT others(26): Show ATACAAATAACTTCATATGCTTTGTATAAAAGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0353 a0001c0005t0007g0353	1	133	0.0075	33	c.795 others(50): Show c.795-2027_795-2026insCACTTTTATACAAAGCATATGAAGTTAT TTGTA	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	9/18			chr5	TogoVar
GFPT2_chr5_180295698_180358336	180320982	A A	ATACAAAT others(26): Show ATACAAATAACTTCGTATGCTTTGTATAAAAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(265): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0018 a0001c0019 a0001c0021 a0002c0002 a0002c0008 a0002c0020 a0003c0006 a0003c0013 a0003c0014 a0004c0011	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(33): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0014 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0004t0016 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0004 a0001c0005t0007 a0001c0005t0010 a0001c0005t0011 a0001c0005t0015 a0001c0005t0021 a0001c0012t0001 a0001c0018t0006 a0001c0019t0001 a0001c0021t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0012 a0002c0002t0013 a0002c0002t0017 a0002c0008t0001 a0002c0020t0001 a0003c0006t0001 a0003c0006t0006 a0003c0013t0001 a0003c0014t0001 a0004c0011t0002	a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0111 others(247): Show a0001c0001t0001g0016 a0001c0001t0001g0035 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0176 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0001g0307 a0001c0001t0001g0317 a0001c0001t0009g0169 a0001c0003t0001g0002 a0001c0003t0001g0018 a0001c0003t0001g0020 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0046 a0001c0003t0001g0057 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0077 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0105 a0001c0003t0001g0120 a0001c0003t0001g0148 a0001c0003t0001g0175 a0001c0003t0001g0178 a0001c0003t0001g0200 a0001c0003t0001g0201 a0001c0003t0001g0221 a0001c0003t0001g0230 a0001c0003t0001g0243 a0001c0003t0001g0247 a0001c0003t0001g0252 a0001c0003t0001g0253 a0001c0003t0001g0254 a0001c0003t0001g0269 a0001c0003t0001g0271 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0285 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0293 a0001c0003t0001g0294 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0303 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0314 a0001c0003t0001g0327 a0001c0003t0001g0335 a0001c0003t0001g0340 a0001c0003t0001g0346 a0001c0003t0001g0347 a0001c0003t0001g0350 a0001c0003t0001g0355 a0001c0003t0004g0119 a0001c0003t0005g0378 a0001c0003t0014g0336 a0001c0004t0001g0005 a0001c0004t0001g0007 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0037 a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0056 a0001c0004t0001g0059 a0001c0004t0001g0060 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0068 a0001c0004t0001g0083 a0001c0004t0001g0085 a0001c0004t0001g0121 a0001c0004t0001g0141 a0001c0004t0001g0154 a0001c0004t0001g0171 a0001c0004t0001g0177 a0001c0004t0001g0179 a0001c0004t0001g0184 a0001c0004t0001g0186 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0197 a0001c0004t0001g0204 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0227 a0001c0004t0001g0229 a0001c0004t0001g0249 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0309 a0001c0004t0001g0330 a0001c0004t0001g0352 a0001c0004t0003g0183 a0001c0004t0008g0028 a0001c0004t0008g0029 a0001c0004t0016g0051 a0001c0005t0001g0341 a0001c0005t0002g0082 a0001c0005t0002g0107 a0001c0005t0003g0172 a0001c0005t0004g0045 a0001c0005t0004g0058 a0001c0005t0004g0130 a0001c0005t0004g0143 a0001c0005t0004g0147 a0001c0005t0004g0149 a0001c0005t0004g0152 a0001c0005t0004g0153 a0001c0005t0004g0159 a0001c0005t0004g0160 a0001c0005t0004g0161 a0001c0005t0004g0162 a0001c0005t0004g0163 a0001c0005t0004g0165 a0001c0005t0004g0167 a0001c0005t0004g0291 a0001c0005t0004g0295 a0001c0005t0007g0304 a0001c0005t0010g0360 a0001c0005t0010g0362 a0001c0005t0011g0379 a0001c0005t0015g0250 a0001c0005t0021g0368 a0001c0012t0001g0170 a0001c0018t0006g0308 a0001c0019t0001g0052 a0001c0021t0001g0251 a0002c0002t0001g0097 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0040 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0063 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0135 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0142 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0166 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0191 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0222 a0002c0002t0002g0258 a0002c0002t0002g0272 a0002c0002t0002g0280 a0002c0002t0002g0286 a0002c0002t0002g0289 a0002c0002t0002g0316 a0002c0002t0002g0343 a0002c0002t0002g0354 a0002c0002t0004g0168 a0002c0002t0012g0026 a0002c0002t0013g0027 a0002c0002t0017g0357 a0002c0008t0001g0182 a0002c0008t0001g0226 a0002c0008t0001g0228 a0002c0020t0001g0298 a0003c0006t0001g0017 a0003c0006t0001g0043 a0003c0006t0001g0235 a0003c0006t0001g0236 a0003c0006t0001g0237 a0003c0006t0001g0238 a0003c0006t0001g0241 a0003c0006t0001g0242 a0003c0006t0001g0244 a0003c0006t0001g0245 a0003c0006t0006g0067 a0003c0006t0006g0136 a0003c0006t0006g0181 a0003c0013t0001g0239 a0003c0013t0001g0240 a0003c0014t0001g0292 a0003c0014t0001g0302 a0004c0011t0002g0012	268	400	0.6700	33	c.795 others(50): Show c.795-2059_795-2027dupCACTTTTATACAAAGCATACGAAGTTAT TTGTA	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	9/18			chr5	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATAATA others(26): Show TTATAATATATATATATATATTTATATATATATA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0280 a0002c0002t0003g0280	1	151	0.0066	33	c.127 others(50): Show c.1272+388_1272+389insTATATATATATAAATATATATATATATA TTATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	162	0.0062	33	c.-16 others(44): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GGT7_chr20_34839720_34877856	34845112	T T	TCACCACC others(26): Show TCACCACCACCACCACCACCACCACCACCACCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18954.hp2 NA19083.hp1 NA18954.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0237 a0001c0001t0014g0245 a0001c0001t0014g0237 a0001c0001t0014g0245	2	152	0.0132	33	c.18 others(42): Show c.183_*215dupGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	15/15	215		chr20	TogoVar
GHR_chr5_42418439_42726878	42474333	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	202	0.0050	33	c.-12 others(52): Show c.-12+50385_-12+50386insGAAAGAAAGAAAGAAAGAAAAGAAAT AAAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42679116	A A	ATATATTA others(26): Show ATATATTATATATTAATTAATATATTATATATTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG00621.hp1 HG00673.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0005 a0005c0011t0001g0009 a0005c0011t0001g0005 a0005c0011t0001g0009	2	183	0.0109	33	c.137 others(50): Show c.137-9724_137-9692dupTAATATATTATATATTGTATATTATATA TTAAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GJA3_chr13_20133255_20166052	20135489	C C	CCATGTTG others(26): Show CCATGTTGTAGCATGTGTCAGAATTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0168 a0001c0002t0003g0168	1	390	0.0026	33	c.64 others(44): Show c.6491_*6492insAAGGAAGGAAATTCTGACACATGCTACAACATG	GJA3	ENSG00000121743.4	transcript	ENST00000241125.4	protein_coding		2765		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCCTTCTTTCCTTCCTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00735.hp1 others(25): Show HG00323.hp2 HG00544.hp2 HG00735.hp1 HG00738.hp2 HG01167.hp2 HG01346.hp1 HG01516.hp1 HG01981.hp2 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02109.hp1 HG02486.hp2 HG02698.hp1 HG02698.hp2 HG03139.hp2 HG03654.hp1 NA18747.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18963.hp2 NA18971.hp2 NA18995.hp1 NA19012.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0109 a0001c0001t0001g0142 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0001g0277 a0001c0001t0001g0301 a0001c0001t0002g0175 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0015g0296	28	269	0.1041	33	c.41 others(44): Show c.4102_*4103insAGAAAGAAGGAAGGAAAGAAGGAAAGAAAGAAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCCTTCTTTCCTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	242	0.0041	33	c.41 others(44): Show c.4102_*4103insAGAAAGAAGGAAAGAAGGAAAGAAAGAAAGAAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GJB7_chr6_87277980_87334278	87332319	C C	CATATATA others(26): Show CATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0150 a0006c0007t0001g0150	1	378	0.0026	33	c.-33 others(44): Show c.-3388_-3387insTATATATATATATATATATATATATATATATAT	GJB7	ENSG00000164411.12	transcript	ENST00000525899.6	protein_coding		3042		chr6	TogoVar
GLB1L3_chr11_134271379_134324564	134308333	C C	CACCACCA others(26): Show CACCACCACCACCACCATCACCATCACCACCACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0161	1	407	0.0025	33	c.961 others(50): Show c.961+1126_961+1127insCCACCACCACCACCATCACCATCACCAC CACAA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLCCI1_chr7_7963796_8094080	7966733	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01106.hp2 NA18981.hp1 others(1): Show HG01081.hp2 HG01106.hp2 NA18981.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0004g0371 others(1): Show a0001c0001t0001g0239 a0001c0001t0001g0262 a0001c0001t0004g0371 a0001c0001t0008g0305	4	232	0.0172	33	c.-26 others(44): Show c.-2618_-2617insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding		2062		chr7	TogoVar
GLDC_chr9_6527467_6650729	6646315	T T	TCTCCTCC others(26): Show TCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0177 a0001c0003t0001g0066 a0001c0001t0003g0177 a0001c0003t0001g0066	2	64	0.0313	33	c.-81 others(42): Show c.-817_-816insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding		587		chr9	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(26): Show AAGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01074.hp2 HG01358.hp1 others(14): Show HG00438.hp2 HG01074.hp2 HG01358.hp1 HG01943.hp2 HG02071.hp2 HG02132.hp2 HG02738.hp2 HG03669.hp2 HG03710.hp1 HG03927.hp1 NA18522.hp2 NA18954.hp1 NA18957.hp1 NA18989.hp2 NA19002.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0003c0010	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0033 a0001c0001t0039 a0001c0002t0003 a0001c0004t0001 a0003c0010t0002	a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 others(14): Show a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0124 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0158 a0001c0001t0002g0232 a0001c0001t0002g0255 a0001c0001t0002g0290 a0001c0001t0004g0110 a0001c0001t0005g0121 a0001c0001t0033g0297 a0001c0001t0039g0195 a0001c0002t0003g0329 a0001c0004t0001g0206 a0003c0010t0002g0339	17	89	0.1910	33	c.775 others(50): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ATACT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542756	A A	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02083.hp2 HG01256.hp1 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0004 a0001c0002t0004g0027 a0001c0002t0003g0004 a0001c0002t0004g0027	2	319	0.0063	33	c.439 others(52): Show c.439-10636_439-10604dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542760	A A	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00735.hp1 others(15): Show HG00544.hp2 HG00609.hp2 HG00735.hp1 HG01106.hp2 HG01192.hp1 HG01361.hp2 HG01993.hp2 HG02004.hp1 HG02135.hp2 HG02886.hp2 NA18944.hp2 NA18949.hp1 NA18993.hp1 NA18999.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0004 a0001c0002t0020 others(1): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0020 a0001c0003t0016	a0001c0002t0003g0007 a0001c0002t0003g0042 a0001c0002t0004g0002 others(15): Show a0001c0002t0003g0007 a0001c0002t0003g0042 a0001c0002t0004g0002 a0001c0002t0004g0008 a0001c0002t0004g0010 a0001c0002t0004g0011 a0001c0002t0004g0014 a0001c0002t0004g0018 a0001c0002t0004g0019 a0001c0002t0004g0021 a0001c0002t0004g0022 a0001c0002t0004g0023 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0028 a0001c0002t0020g0057 a0001c0003t0016g0039 a0001c0003t0016g0040	18	323	0.0557	33	c.439 others(52): Show c.439-10640_439-10608dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542762	G G	GAAGGAAG others(26): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0023 a0001c0003t0023	a0001c0003t0023g0328 a0001c0003t0023g0328	1	303	0.0033	33	c.439 others(52): Show c.439-10642_439-10610dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542764	A A	AGGAAGGA others(26): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0024 a0001c0002t0004g0024	1	338	0.0030	33	c.439 others(52): Show c.439-10644_439-10612dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCC	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74542766	G G	GAAGGAAG others(26): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA20129.hp1 NA19066.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0023 a0001c0003t0003 a0001c0003t0023	a0001c0003t0003g0067 a0001c0003t0023g0326 a0001c0003t0003g0067 a0001c0003t0023g0326	2	322	0.0062	33	c.439 others(52): Show c.439-10646_439-10614dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25			chr16	TogoVar
GLI4_chr8_143262445_143281931	143268838	T T	TTGCTGCT others(26): Show TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0029 a0004c0008t0001g0029	2	381	0.0052	33	c.-37 others(48): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLI4_chr8_143262445_143281931	143268859	C C	CTGCTGCT others(26): Show CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03710.hp1 NA18978.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0001 a0001c0003t0004 a0002c0001t0001 a0001c0002t0001 a0001c0003t0004 a0002c0001t0001	a0001c0002t0001g0015 a0001c0003t0004g0015 a0002c0001t0001g0087 others(1): Show a0001c0002t0001g0015 a0001c0003t0004g0015 a0002c0001t0001g0087 a0002c0001t0001g0088	6	55	0.1091	33	c.-37 others(48): Show c.-37-499_-37-498insCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG TTG	GLI4	ENSG00000250571.7	transcript	ENST00000340042.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA19000.hp1 NA19091.hp1 HG01081.hp1 NA19000.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0031 a0001c0001t0001g0070	3	12	0.2500	33	c.201 others(50): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(26): Show TTTCCTTTCCTTTCCTTTCCTTTCCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0183	1	171	0.0058	33	c.912 others(50): Show c.912+1937_912+1938insGGAAGGAAGGGAAAGGAAAGGAAAGGAA AGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(26): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTCC	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	171	0.0058	33	c.912 others(50): Show c.912+1937_912+1938insGGAAGGAAAGGAAAGGAAAGGAAAGGAA AGGAA	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TCCCTCCC others(26): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02074.hp1 HG02698.hp1 others(3): Show HG01358.hp2 HG02074.hp1 HG02698.hp1 HG03942.hp1 NA18957.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0142 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149	6	216	0.0278	33	c.912 others(50): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGG	GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8			chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681908	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	176	0.0057	33	c.931 others(50): Show c.931-8802_931-8801insTATATATATATATATATATATATATATA TATAT	GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8			chrX	TogoVar
GLT1D1_chr12_128848478_128989968	128956171	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02071.hp1 HG02602.hp2 HG02040.hp1 HG02071.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0009g0056 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0009g0056	3	166	0.0181	33	c.781 others(50): Show c.781-1373_781-1372insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGAGA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG02004.hp2 others(4): Show HG00140.hp1 HG00639.hp2 HG02004.hp2 HG02027.hp1 HG02074.hp2 HG02683.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	7	32	0.2188	33	c.-17 others(42): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding		105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652548	A A	ATTATATA others(26): Show ATTATATATATTATATATAATATATATTATTTAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0044	1	126	0.0079	33	c.988 others(52): Show c.988-28009_988-28008insATAAATAATATATATTATATATAATA TATATAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	2052116	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	122	0.0082	33	c.345 others(52): Show c.345+63654_345+63655insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10			chr6	TogoVar
GMEB2_chr20_63582605_63632101	63607750	A A	ATCCATTT others(26): Show ATCCATTTCTAGAAACATGCCCCTCTGACCCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(74): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG03017.hp2 HG03492.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18967.hp1 NA18970.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19054.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19075.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0015 a0002c0013 a0001c0003 a0001c0015 a0002c0013	a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 others(4): Show a0001c0003t0002 a0001c0003t0022 a0001c0003t0023 a0001c0003t0024 a0001c0003t0026 a0001c0015t0002 a0002c0013t0002	a0001c0003t0002g0001 a0001c0003t0002g0023 a0001c0003t0002g0024 others(68): Show a0001c0003t0002g0001 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0111 a0001c0003t0002g0112 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0130 a0001c0003t0002g0132 a0001c0003t0002g0133 a0001c0003t0002g0134 a0001c0003t0002g0135 a0001c0003t0002g0136 a0001c0003t0002g0137 a0001c0003t0002g0138 a0001c0003t0002g0139 a0001c0003t0002g0141 a0001c0003t0002g0142 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0147 a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0151 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0157 a0001c0003t0002g0158 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0165 a0001c0003t0002g0166 a0001c0003t0002g0167 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0173 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0177 a0001c0003t0002g0178 a0001c0003t0002g0179 a0001c0003t0002g0180 a0001c0003t0002g0181 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0190 a0001c0003t0002g0260 a0001c0003t0002g0262 a0001c0003t0002g0264 a0001c0003t0002g0270 a0001c0003t0022g0263 a0001c0003t0023g0159 a0001c0003t0024g0164 a0001c0003t0026g0291 a0001c0015t0002g0172 a0002c0013t0002g0124	77	297	0.2593	33	c.132 others(50): Show c.132-2911_132-2910insGGTGGGTCAGAGGGGCATGTTTCTAGAA ATGGA	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608254	C C	CCCCACAT others(26): Show CCCCACATCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0086 a0001c0004t0004g0086	1	328	0.0030	33	c.132 others(50): Show c.132-3415_132-3414insTCAGAGGGGCATGTTTCTAGAAATGGAT GTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608967	A A	ACCCCACC others(26): Show ACCCCACCTCCATTTCTAGAAACATGCCCCTGAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0034 a0001c0007t0007g0035 a0001c0007t0007g0034 a0001c0007t0007g0035	2	109	0.0183	33	c.132 others(50): Show c.132-4128_132-4127insGTCAGGGGCATGTTTCTAGAAATGGAGG TGGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609138	C C	CCCCACCT others(26): Show CCCCACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0093 a0001c0004t0004g0093	1	327	0.0031	33	c.132 others(50): Show c.132-4299_132-4298insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609276	C C	CCCCACCT others(26): Show CCCCACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0096 a0001c0004t0004g0096	1	325	0.0031	33	c.132 others(50): Show c.132-4437_132-4436insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609340	T T	TCTGACCC others(26): Show TCTGACCCACACCTCCATTTCTAGAAACATGCCC	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0174 a0001c0003t0002g0174	1	328	0.0030	33	c.132 others(50): Show c.132-4501_132-4500insGGGCATGTTTCTAGAAATGGAGGTGTGG GTCAG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609346	C C	CCACACCT others(26): Show CCACACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0124 a0002c0013t0002g0124	1	314	0.0032	33	c.132 others(50): Show c.132-4507_132-4506insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGTG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609821	C C	CCCCACCT others(26): Show CCCCACCTCCATTTCTAGAAACATGCCCCTCTGA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 NA18522.hp1 HG01255.hp2 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0034 a0001c0007t0007g0035 a0001c0007t0007g0036 a0001c0007t0007g0034 a0001c0007t0007g0035 a0001c0007t0007g0036	3	328	0.0091	33	c.132 others(50): Show c.132-4982_132-4981insTCAGAGGGGCATGTTTCTAGAAATGGAG GTGGG	GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9			chr20	TogoVar
GMFG_chr19_39323359_39341043	39326699	A A	AGGAGGGG others(26): Show AGGAGGGGGGGGAGGGGGAGGGGGAGAGGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18966.hp2 NA18975.hp2 others(2): Show NA18747.hp2 NA18966.hp2 NA18975.hp2 NA18985.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0017	5	368	0.0136	33	c.17 others(44): Show c.1777_*1778insCCTTCCCTCTCCCCCTCCCCCTCCCCCCCCTCC	GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding		1659		chr19	TogoVar
GMNC_chr3_190847737_190867694	190856222	T T	TTATTTAT others(26): Show TTATTTATAAATAATACTTATATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	424	0.0024	33	c.385 others(48): Show c.385-340_385-308dupTTTATAAATAAATATAAGTATTATTTATAA ATA	GMNC	ENSG00000205835.9	transcript	ENST00000442080.6	protein_coding	4/4			chr3	TogoVar
GNA15_chr19_3131033_3168749	3135839	A A	ATATATAG others(26): Show ATATATAGATATATATATATATATACATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0017 a0002c0005t0017	a0002c0005t0017g0311 a0002c0005t0017g0311	1	377	0.0027	33	c.-61 others(42): Show c.-612_-611insTATATAGATATATATATATATATACATATAAAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		193		chr19	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAAAAT others(26): Show AAAAAAATCTATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	33	0.0303	33	c.145 others(50): Show c.145+3450_145+3451insAAAAATCTATCTATCTATCTATCTATCT ATCTA	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GNAL_chr18_11684264_11890685	11771325	T T	TATTGGAA others(26): Show TATTGGAAGTTAATGTTAATGTTAACATTAACTA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18978.hp1 NA18949.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0128 a0001c0001t0077 a0001c0001t0128	a0001c0001t0077g0083 a0001c0001t0128g0150 a0001c0001t0077g0083 a0001c0001t0128g0150	2	246	0.0081	33	c.624 others(52): Show c.624+17395_624+17427dupTTAATGTTAACATTAACTAATTGGAA GTTAATG	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAL_chr18_11747085_11890685	11771325	T T	TATTGGAA others(26): Show TATTGGAAGTTAATGTTAATGTTAACATTAACTA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18978.hp1 NA18939.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0038 a0001c0001t0010 a0001c0001t0038	a0001c0001t0010g0177 a0001c0001t0038g0122 a0001c0001t0010g0177 a0001c0001t0038g0122	2	282	0.0071	33	c.393 others(52): Show c.393+17395_393+17427dupTTAATGTTAACATTAACTAATTGGAA GTTAATG	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GNB1_chr1_1780286_1896087	1864314	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	75	0.0133	33	c.-95 others(52): Show c.-95-25077_-95-25076insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	1/11			chr1	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0145 a0001c0001t0092g0145	1	159	0.0063	33	c.56 others(44): Show c.5654_*5655insAAAAAAATATATATATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03688.hp1 NA18984.hp1 HG03688.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0091 a0001c0001t0087 a0001c0001t0091	a0001c0001t0087g0153 a0001c0001t0091g0106 a0001c0001t0087g0153 a0001c0001t0091g0106	2	160	0.0125	33	c.56 others(44): Show c.5654_*5655insAAAAAAAAATATATATATATATATATATATATA	GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13	5654		chr15	TogoVar

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