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
UBE2E1_chr3_23800955_23896640	23871284	T T	TGGGTGGC others(42): Show TGGGTGGCTGGCCGGGCGGGGGGTGACCCCCCCCACCTCCCTCCCGGACA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00423.hp2 others(163): Show HG00140.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp1 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(154): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0049 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0213 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0346 a0001c0001t0002g0004 a0001c0001t0002g0028 a0001c0001t0002g0037 a0001c0001t0002g0046 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0231 a0001c0001t0002g0240 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0296 a0001c0001t0002g0313 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0341 a0001c0001t0002g0343 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0005g0059 a0001c0001t0007g0344 a0002c0002t0002g0017 a0002c0002t0002g0308 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0330 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338	166	274	0.6058	49	c.204 others(68): Show c.204-16280_204-16279insTGGCTGGCCGGGCGGGGGGTGACCCC CCCCACCTCCCTCCCGGACAGGG	UBE2E1	ENSG00000170142.12	transcript	ENST00000306627.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2U_chr1_64198623_64272368	64201437	C C	CCGCCCGG others(42): Show CCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGCTCAGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	237	0.0042	49	c.-26 others(60): Show c.-2614_-2613insCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGCTCAGCCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2185		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201437	C C	CCGCCCGG others(42): Show CCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(84): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02818.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18953.hp2 NA18956.hp1 NA18959.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp2 NA18985.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19009.hp1 NA19030.hp2 NA19055.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19091.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0003 a0001c0001 a0001c0010 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0010t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0010t0003 a0002c0003t0002	a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(82): Show a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0010t0003g0039 a0002c0003t0002g0215	87	323	0.2694	49	c.-26 others(60): Show c.-2614_-2613insCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2185		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201438	C C	CGCCCGGC others(42): Show CGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	328	0.0030	49	c.-26 others(60): Show c.-2613_-2612insGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCTT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2184		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201455	C C	CGTCCGGG others(42): Show CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGCCCGGCCAGCCGCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01255.hp2 HG01934.hp2 others(19): Show HG01192.hp1 HG01255.hp2 HG01934.hp2 HG02055.hp1 HG02258.hp1 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp1 NA19043.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0008 a0002c0002 others(2): Show a0001c0001 a0001c0008 a0002c0002 a0002c0006 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0002c0006t0001 a0005c0007t0001	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0299 others(19): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0299 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0008t0001g0282 a0001c0008t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0295 a0002c0002t0001g0296 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0006t0001g0288 a0002c0006t0001g0289 a0005c0007t0001g0285 a0005c0007t0001g0294	22	162	0.1358	49	c.-25 others(60): Show c.-2596_-2595insGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCTCGC CCGGCCAGCCGCCCT	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2167		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239113	A A	AGAAGAAG others(42): Show AGAAGAAGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	325	0.0031	49	c.596 others(66): Show c.596-2532_596-2531insGAAGAAGAAGAGGAAGAGGAAGAGGAAG AGGAAGAGGAAGAGGAAGAAG	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UCN3_chr10_5359966_5379692	5370750	G G	GCGTGTGT others(42): Show GCGTGTGTATGCGTGTGTATGTGTGTGTATGTGTGTGTGTATATGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0360 a0002c0002t0005g0361 a0002c0002t0005g0362 a0002c0002t0005g0360 a0002c0002t0005g0361 a0002c0002t0005g0362	3	436	0.0069	49	c.-6- others(64): Show c.-6-2965_-6-2964insCGTGTGTATGCGTGTGTATGTGTGTGTATG TGTGTGTGTATATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1			chr10	TogoVar
UGT1A10_chr2_233631448_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0246 a0001c0001t0009g0246	1	300	0.0033	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	5/5	451		chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	410	0.0024	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding	5/5	451		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0035 a0002c0002t0009g0035	1	348	0.0029	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	5/5	451		chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0014 a0001c0001t0008g0014	1	330	0.0030	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	5/5	451		chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	328	0.0030	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	5/5	451		chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0023 a0002c0002t0008g0023	1	330	0.0030	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	5/5	451		chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0119 a0002c0002t0008g0119	1	318	0.0031	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	5/5	451		chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0187 a0001c0001t0012g0187	1	288	0.0035	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	5/5	451		chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233773009	G G	GACTAAAT others(42): Show GACTAAATCAAAAAAATAATAAAAAAATAAATAAAGAAAAAGAAAATAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0215 a0001c0001t0009g0215	1	316	0.0032	49	c.45 others(58): Show c.450_*451insACTAAATCAAAAAAATAATAAAAAAATAAATAAAGA AAAAGAAAATAGA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	5/5	451		chr2	TogoVar
ULK2_chr17_19765830_19872936	19814439	T T	TACATATA others(42): Show TACATATATATATATACATATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01358.hp1 others(11): Show HG00438.hp2 HG00738.hp2 HG01358.hp1 HG01928.hp2 HG02155.hp2 NA18951.hp2 NA18957.hp2 NA18961.hp1 NA18984.hp2 NA18986.hp2 NA19012.hp2 NA19063.hp1 NA19091.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0030 a0001c0003t0003 a0001c0003t0030	a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 others(11): Show a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0027 a0001c0003t0003g0032 a0001c0003t0003g0033 a0001c0003t0003g0034 a0001c0003t0003g0035 a0001c0003t0003g0037 a0001c0003t0003g0040 a0001c0003t0030g0049	14	266	0.0526	49	c.109 others(68): Show c.1096+2309_1096+2310insTATATATATATATATGTATATATATA TATATATGTATATATATATATGT	ULK2	ENSG00000083290.20	transcript	ENST00000395544.9	protein_coding	13/26			chr17	TogoVar
ULK3_chr15_74831118_74848156	74837505	T T	TGAGAGAG others(42): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19083.hp2 NA18953.hp2 NA19083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0012 a0002c0001t0001g0057 a0002c0001t0001g0012 a0002c0001t0001g0057	2	434	0.0046	49	c.133 others(64): Show c.1336-71_1336-70insTCTTGCTCGGCACTGCGCTGTGGCTCGTGT CCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK3_chr15_74831118_74848156	74837554	T T	TGAGAGAG others(42): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0038 a0001c0002t0002g0038	1	417	0.0024	49	c.133 others(66): Show c.1335+148_1336-120dupTCTTGCTCGGCACTGCGCTGTGGCTCGT GTCCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK4_chr3_41241599_41967103	41306319	C C	CGCCAGCC others(42): Show CGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02622.hp2 others(3): Show HG01891.hp1 HG02258.hp2 HG02622.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0009 a0016	a0002c0004 a0003c0016 a0004c0002 others(2): Show a0002c0004 a0003c0016 a0004c0002 a0009c0008 a0016c0015	a0002c0004t0002 a0003c0016t0001 a0004c0002t0005 others(2): Show a0002c0004t0002 a0003c0016t0001 a0004c0002t0005 a0009c0008t0002 a0016c0015t0001	a0002c0004t0002g0017 a0003c0016t0001g0057 a0004c0002t0005g0068 others(3): Show a0002c0004t0002g0017 a0003c0016t0001g0057 a0004c0002t0005g0068 a0009c0008t0002g0020 a0009c0008t0002g0021 a0016c0015t0001g0005	6	69	0.0870	49	c.367 others(70): Show c.3679-56746_3679-56745insCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41706361	T T	TTATATAT others(42): Show TTATATATATATTTAATATATATATTTATATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0018 a0002c0009t0002g0018	1	66	0.0152	49	c.263 others(68): Show c.2635-1057_2635-1056insTAAATATATATAAATATATATATAAA TATATATATTAAATATATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36			chr3	TogoVar
UMOD_chr16_20328051_20357715	20355498	A A	AGTTCAAG others(42): Show AGTTCAAGGAGGCAAGTAGAGGCTGGCTCACTGCCCTACCTCCCTCCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	402	0.0025	49	c.-29 others(60): Show c.-2913_-2912insGTTGGAGGGAGGTAGGGCAGTGAGCCAGCCTCTA CTTGCCTCCTTGAAC	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding		2784		chr16	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TAAAAATA others(42): Show TAAAAATATTTATATAAATATTTATAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18990.hp2 NA19002.hp2 others(1): Show HG01346.hp2 NA18990.hp2 NA19002.hp2 NA20805.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0002c0010 a0002c0031 others(1): Show a0002c0003 a0002c0010 a0002c0031 a0013c0017	a0002c0003t0001 a0002c0010t0001 a0002c0031t0001 others(1): Show a0002c0003t0001 a0002c0010t0001 a0002c0031t0001 a0013c0017t0001	a0002c0003t0001g0045 a0002c0010t0001g0099 a0002c0031t0001g0038 others(1): Show a0002c0003t0001g0045 a0002c0010t0001g0099 a0002c0031t0001g0038 a0013c0017t0001g0022	4	119	0.0336	49	c.469 others(66): Show c.469-1619_469-1618insATATTTATATAAATATTTATAAAAATAT TTATATAAATATTTATAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TATAAATA others(42): Show TATAAATATTTATATAAATATTTATAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0017 a0017	a0017c0029 a0017c0029	a0017c0029t0001 a0017c0029t0001	a0017c0029t0001g0050 a0017c0029t0001g0050	1	116	0.0086	49	c.469 others(66): Show c.469-1622_469-1621insTAAATATTTATATAAATATTTATAAAAA TATTTATATAAATATTTATAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC5B_chr10_71207570_71307864	71296802	G G	GTCGGGGC others(42): Show GTCGGGGCCACATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG00741.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0183 a0001c0001t0014g0263 a0001c0001t0014g0183 a0001c0001t0014g0263	2	365	0.0055	49	c.249 others(64): Show c.2490+60_2490+61insTCGGGGCCACATATTCCAGCTGCATACCAC TCTGGCAGAGGTGAGGGAA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16			chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296909	G G	GCAGATAT others(42): Show GCAGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG04115.hp2 HG01070.hp2 HG01071.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0097 a0001c0001t0027g0046 a0001c0001t0027g0262 a0001c0001t0002g0097 a0001c0001t0027g0046 a0001c0001t0027g0262	3	331	0.0091	49	c.249 others(66): Show c.2490+178_2490+226dupAGCTGCACACCACGCTGGCGGAGGTGAG GGAAGGGCGGCCAGATATTCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296909	G G	GCAGATAT others(42): Show GCAGATATTCCGGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0059 a0001c0003t0001g0059	1	329	0.0030	49	c.249 others(66): Show c.2490+177_2490+178insGGCTGCACACCACGCTGGCGGAGGTGAG GGAAGGGCGGCCAGATATTCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296920	A A	AGCTGCAC others(42): Show AGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGCCAGATATTCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19087.hp1 HG01358.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0199 a0001c0004t0003g0146 a0001c0001t0001g0199 a0001c0004t0003g0146	2	307	0.0065	49	c.249 others(66): Show c.2490+191_2490+239dupGCTGGCGGAGGTGAGGGAAGGGCGGCCA GATATTCCGGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296938	C C	CGGAGGTG others(42): Show CGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACTCTGGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp2 NA19084.hp1 others(1): Show HG01169.hp2 HG01515.hp2 NA19084.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0028 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0028 a0001c0002t0078	a0001c0001t0001g0152 a0001c0001t0002g0272 a0001c0002t0028g0145 others(1): Show a0001c0001t0001g0152 a0001c0001t0002g0272 a0001c0002t0028g0145 a0001c0002t0078g0118	4	344	0.0116	49	c.249 others(66): Show c.2490+236_2490+284dupCCACTCTGGTGGAGGTGAGGGAAGGGCG GCCAGATATTCCGGCTGCACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	99	0.0101	49	c.496 others(66): Show c.4960+794_4960+795insTGTCTTGTTTTTTTAACTTGAGTTTGGG GATTTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02698.hp1 HG02886.hp2 others(6): Show HG01884.hp1 HG02698.hp1 HG02886.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG04199.hp2 NA19057.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0033 a0001c0001 a0001c0002 a0001c0033	a0001c0001t0001 a0001c0002t0003 a0001c0033t0001 a0001c0001t0001 a0001c0002t0003 a0001c0033t0001	a0001c0001t0001g0105 a0001c0002t0003g0201 a0001c0002t0003g0251 others(6): Show a0001c0001t0001g0105 a0001c0002t0003g0201 a0001c0002t0003g0251 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0295 a0001c0033t0001g0159	9	107	0.0841	49	c.496 others(66): Show c.4960+794_4960+795insTTGTCTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USP13_chr3_179648040_179794401	179728032	A A	ACCACCTC others(42): Show ACCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0236 a0001c0001t0004g0236	1	240	0.0042	49	c.108 others(68): Show c.1089-2127_1089-2126insAGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP46_chr4_52585960_52664301	52632985	A A	AAAGAAAG others(42): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0062 a0001c0001t0001g0048 a0001c0001t0001g0062	2	148	0.0135	49	c.37- others(64): Show c.37-1842_37-1841insCTTTCTTTCTTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP8_chr15_50419405_50519421	50441604	G G	GCATGATC others(42): Show GCATGATCTCATGTAGATAGAAAAAGGGAACTAAAGATACAGTGTTATTA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0209 a0001c0001t0209	a0001c0001t0209g0362 a0001c0001t0209g0362	1	380	0.0026	49	c.249 others(64): Show c.249+112_249+160dupCATGATCTCATGTAGATAGAAAAAGGGAAC TAAAGATACAGTGTTATTA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
UTP18_chr17_51255546_51302933	51265562	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	65	0.0154	49	c.456 others(64): Show c.456-599_456-598insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	UTP18	ENSG00000011260.14	transcript	ENST00000225298.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(42): Show CCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	27	0.0370	49	c.205 others(66): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTCTCTCTCTCTCTC TCTCTCTCTCTCTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCL_chr10_73993116_74125169	74105914	T T	TTTTTAGT others(42): Show TTTTTAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAACCTCTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02257.hp1 others(15): Show HG00642.hp1 HG01433.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp2 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0009 a0006c0019 a0001c0004 a0001c0009 a0006c0019	a0001c0004t0002 a0001c0004t0008 a0001c0009t0002 others(1): Show a0001c0004t0002 a0001c0004t0008 a0001c0009t0002 a0006c0019t0002	a0001c0004t0002g0034 a0001c0004t0002g0044 a0001c0004t0002g0049 others(15): Show a0001c0004t0002g0034 a0001c0004t0002g0044 a0001c0004t0002g0049 a0001c0004t0002g0057 a0001c0004t0002g0074 a0001c0004t0002g0083 a0001c0004t0002g0093 a0001c0004t0002g0123 a0001c0004t0002g0183 a0001c0004t0002g0186 a0001c0004t0002g0262 a0001c0004t0008g0013 a0001c0009t0002g0011 a0001c0009t0002g0076 a0001c0009t0002g0108 a0001c0009t0002g0113 a0001c0009t0002g0181 a0006c0019t0002g0094	18	262	0.0687	49	c.243 others(66): Show c.2434+565_2434+566insAGTGCTGGGATTACAGGTGTGAGCCACC GTGCCCAACCTCTGCGCTTTT	VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX2_chrX_8164944_8176267	8169349	C C	CAACACCT others(42): Show CAACACCTCTTCCACCCTCCCTCCCACCCCACACACCACCTCTTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0029 a0002c0001t0008g0029	1	113	0.0088	49	c.68 others(58): Show c.682_*683insAGGGGGAAGAGGTGGTGTGTGGGGTGGGAGGGAGGG TGGAAGAGGTGTT	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		594		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18980.hp2 NA18984.hp2 others(1): Show NA18964.hp1 NA18980.hp2 NA18984.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0036 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0036	4	224	0.0179	49	c.375 others(62): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAG ACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VNN2_chr6_132738870_132762904	132758039	C C	CTTCTTCT others(42): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0065 a0002c0004t0001g0065	1	207	0.0048	49	c.-15 others(58): Show c.-157_-156insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		136		chr6	TogoVar
VPS53_chr17_503668_719839	548344	T T	TGACTACA others(42): Show TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp2 HG02818.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0095 a0001c0001t0093 a0001c0001t0095	a0001c0001t0093g0146 a0001c0001t0095g0147 a0001c0001t0093g0146 a0001c0001t0095g0147	2	229	0.0087	49	c.186 others(68): Show c.1866+3527_1866+3528insGTTGGATATTTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548435	T T	TATCCAAC others(42): Show TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	209	0.0048	49	c.186 others(68): Show c.1866+3388_1866+3436dupGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548484	C C	CATCCAAT others(42): Show CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03491.hp1 HG03492.hp1 others(1): Show HG01981.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0022 a0001c0006t0042 a0002c0003t0137 a0001c0006t0022 a0001c0006t0042 a0002c0003t0137	a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0042g0002 others(1): Show a0001c0006t0022g0100 a0001c0006t0022g0101 a0001c0006t0042g0002 a0002c0003t0137g0187	4	205	0.0195	49	c.186 others(68): Show c.1866+3387_1866+3388insATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCATTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548533	C C	CATCCAAC others(42): Show CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG04204.hp2 others(1): Show HG00280.hp1 HG00323.hp1 HG04204.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0138 a0001c0002t0001 a0002c0003t0138	a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 others(1): Show a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0002c0003t0138g0170	4	157	0.0255	49	c.186 others(68): Show c.1866+3290_1866+3338dupATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548582	T T	TATCCAAC others(42): Show TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG03516.hp1 others(1): Show HG02622.hp1 HG02723.hp1 HG03516.hp1 HG04204.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0015 a0006c0013 a0001c0001 a0001c0015 a0006c0013	a0001c0001t0031 a0001c0001t0081 a0001c0015t0120 others(1): Show a0001c0001t0031 a0001c0001t0081 a0001c0015t0120 a0006c0013t0125	a0001c0001t0031g0197 a0001c0001t0081g0046 a0001c0015t0120g0149 others(1): Show a0001c0001t0031g0197 a0001c0001t0081g0046 a0001c0015t0120g0149 a0006c0013t0125g0163	4	142	0.0282	49	c.186 others(68): Show c.1866+3289_1866+3290insGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548589	C C	CGACTACA others(42): Show CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0040	a0002c0003t0040g0115 a0002c0003t0040g0115	1	215	0.0047	49	c.186 others(68): Show c.1866+3282_1866+3283insATTGGATGATTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(42): Show CTTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG03688.hp2 HG01515.hp1 HG01517.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0011 a0001c0001t0002 a0001c0007t0011	a0001c0001t0002g0213 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0001t0002g0213 a0001c0007t0011g0105 a0001c0007t0011g0106	3	121	0.0248	49	c.186 others(68): Show c.1866+3250_1866+3251insTGACTGTTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATATTTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(42): Show CTTCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0041 a0001c0006t0041	a0001c0006t0041g0003 a0001c0006t0041g0003	1	119	0.0084	49	c.186 others(68): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	618957	T T	TGGGTAGC others(42): Show TGGGTAGCTGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCTCC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0040	a0002c0003t0040g0115 a0002c0003t0040g0115	1	178	0.0056	49	c.111 others(68): Show c.1116+4575_1116+4576insGGAGAAATATTAGCAGGCGTGGTGGT GCACACGTGTAGTCCAGCTACCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	618957	T T	TGGGTAGC others(42): Show TGGGTAGCTGGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01346.hp1 HG01516.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 HG03491.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18955.hp1 NA18957.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0002 a0002c0003 a0004c0008 others(1): Show a0001c0002 a0002c0003 a0004c0008 a0005c0009	a0001c0002t0018 a0001c0002t0020 a0001c0002t0035 others(40): Show a0001c0002t0018 a0001c0002t0020 a0001c0002t0035 a0001c0002t0038 a0001c0002t0054 a0001c0002t0083 a0001c0002t0097 a0001c0002t0106 a0001c0002t0135 a0001c0002t0141 a0002c0003t0008 a0002c0003t0009 a0002c0003t0018 a0002c0003t0019 a0002c0003t0030 a0002c0003t0039 a0002c0003t0040 a0002c0003t0082 a0002c0003t0086 a0002c0003t0087 a0002c0003t0088 a0002c0003t0089 a0002c0003t0090 a0002c0003t0096 a0002c0003t0101 a0002c0003t0124 a0002c0003t0129 a0002c0003t0132 a0002c0003t0133 a0002c0003t0136 a0002c0003t0137 a0002c0003t0138 a0002c0003t0140 a0002c0003t0142 a0004c0008t0020 a0004c0008t0035 a0004c0008t0038 a0004c0008t0039 a0004c0008t0100 a0004c0008t0126 a0005c0009t0123 a0005c0009t0131 a0005c0009t0139	a0001c0002t0018g0225 a0001c0002t0020g0224 a0001c0002t0035g0116 others(49): Show a0001c0002t0018g0225 a0001c0002t0020g0224 a0001c0002t0035g0116 a0001c0002t0038g0219 a0001c0002t0054g0049 a0001c0002t0083g0221 a0001c0002t0097g0223 a0001c0002t0106g0222 a0001c0002t0135g0226 a0001c0002t0141g0202 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0018g0179 a0002c0003t0019g0172 a0002c0003t0019g0214 a0002c0003t0019g0231 a0002c0003t0030g0169 a0002c0003t0030g0181 a0002c0003t0039g0176 a0002c0003t0040g0168 a0002c0003t0082g0184 a0002c0003t0086g0175 a0002c0003t0087g0171 a0002c0003t0088g0209 a0002c0003t0089g0190 a0002c0003t0090g0173 a0002c0003t0096g0192 a0002c0003t0101g0208 a0002c0003t0124g0193 a0002c0003t0129g0216 a0002c0003t0132g0167 a0002c0003t0133g0194 a0002c0003t0136g0215 a0002c0003t0137g0187 a0002c0003t0138g0170 a0002c0003t0140g0174 a0002c0003t0142g0191 a0004c0008t0020g0228 a0004c0008t0035g0229 a0004c0008t0038g0203 a0004c0008t0039g0207 a0004c0008t0100g0227 a0004c0008t0126g0232 a0005c0009t0123g0178 a0005c0009t0131g0189 a0005c0009t0139g0177	52	229	0.2271	49	c.111 others(68): Show c.1116+4527_1116+4575dupGGGAAATATTAGCAGGCGTGGTGGTG CACACGTGTAGTCCCAGCTACCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar

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