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
TPD52L1_chr6_125148773_125269407	125251426	T T	TAAAATCT others(10): Show TAAAATCTGTAAAAGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03579.hp1 HG01891.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0205 a0001c0001t0002g0206	2	318	0.0063	17	c.387 others(34): Show c.387-2287_387-2286insTCTGTAAAAGGCCAAAA	TPD52L1	ENSG00000111907.21	transcript	ENST00000534000.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
TPGS2_chr18_36789108_36834002	36823460	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	188	0.0053	17	c.86- others(32): Show c.86-4504_86-4488dupAAAAAAAAAAAAAAAAA	TPGS2	ENSG00000134779.15	transcript	ENST00000334295.9	protein_coding	1/6			chr18	TogoVar
TPH2_chr12_71933845_72037440	71982015	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0226 a0001c0003t0001g0226	1	176	0.0057	17	c.941 others(34): Show c.941+2929_941+2945dupTTTTTTTTTTTTTTTTT	TPH2	ENSG00000139287.13	transcript	ENST00000333850.4	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
TPK1_chr7_144446941_144841053	144493222	G G	GGAAAGCA others(10): Show GGAAAGCATTTTGAGTAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG02886.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0079 a0001c0001t0006g0099 a0001c0001t0001g0079 a0001c0001t0006g0099	2	116	0.0172	17	c.614 others(36): Show c.614-39576_614-39560dupGTACTCAAAATGCTTTC	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	8/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144737088	A A	AAAAAGAA others(10): Show AAAAAGAAAAAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02723.hp1 NA21309.hp2 HG02145.hp1 HG02723.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0007 a0001c0001t0002g0028 a0001c0001t0001g0097 a0001c0001t0002g0007 a0001c0001t0002g0028	3	116	0.0259	17	c.115 others(36): Show c.115+28775_115+28791dupCTTCTCTTTTTTCTTTT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	3/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144797576	C C	CAAAAAGT others(10): Show CAAAAAGTCAGTGTGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01884.hp1 others(3): Show HG00642.hp2 HG01081.hp1 HG01884.hp1 HG02004.hp2 NA18612.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0065 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0005g0049	6	116	0.0517	17	c.44- others(34): Show c.44-31626_44-31625insTCCCACACTGACTTTTT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144809750	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	14	0.0714	17	c.43+ others(34): Show c.43+25809_43+25810insGTGTGTGTGTGTGTGTG	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144809788	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	106	0.0094	17	c.43+ others(34): Show c.43+25771_43+25772insTGTGTGTGTGTGTGTGT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TPMT_chr6_18123311_18160077	18155122	T T	TCCGCGCC others(10): Show TCCGCGCCCCGCCTCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA18999.hp2 NA21309.hp2 HG03130.hp2 NA18999.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018	a0001c0002t0001g0008 a0001c0002t0002g0196 a0001c0002t0018g0210 a0001c0002t0001g0008 a0001c0002t0002g0196 a0001c0002t0018g0210	3	107	0.0280	17	c.-13 others(26): Show c.-135_-134insGCGGAGGCGGGGCGCGG	TPMT	ENSG00000137364.5	transcript	ENST00000309983.5	protein_coding		46		chr6	TogoVar
TPMT_chr6_18123311_18160077	18159037	G G	GAGTGCAC others(10): Show GAGTGCACTAGCACACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	436	0.0023	17	c.-40 others(28): Show c.-4050_-4049insGAGTGTGCTAGTGCACT	TPMT	ENSG00000137364.5	transcript	ENST00000309983.5	protein_coding		3961		chr6	TogoVar
TPPP_chr5_654862_698352	675121	A A	ACAGTGTG others(10): Show ACAGTGTGGCCAGGGATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01243.hp2 others(32): Show HG00280.hp2 HG00738.hp2 HG01243.hp2 HG01361.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG02055.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03927.hp2 NA18906.hp1 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 others(14): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 a0001c0001t0032 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0067 a0001c0001t0071 a0001c0001t0076 a0001c0001t0078 a0001c0004t0001 a0001c0006t0002 a0001c0006t0004 a0001c0006t0017 a0001c0006t0050 a0001c0006t0056	a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0347 others(30): Show a0001c0001t0004g0252 a0001c0001t0004g0255 a0001c0001t0004g0347 a0001c0001t0007g0046 a0001c0001t0007g0053 a0001c0001t0007g0060 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0024g0061 a0001c0001t0024g0065 a0001c0001t0032g0341 a0001c0001t0049g0067 a0001c0001t0054g0261 a0001c0001t0055g0262 a0001c0001t0067g0254 a0001c0001t0071g0070 a0001c0001t0076g0066 a0001c0001t0078g0064 a0001c0004t0001g0253 a0001c0004t0001g0268 a0001c0006t0002g0264 a0001c0006t0004g0026 a0001c0006t0004g0335 a0001c0006t0004g0336 a0001c0006t0004g0337 a0001c0006t0004g0339 a0001c0006t0004g0340 a0001c0006t0004g0348 a0001c0006t0017g0031 a0001c0006t0017g0266 a0001c0006t0017g0338 a0001c0006t0050g0344 a0001c0006t0056g0349	35	327	0.1070	17	c.311 others(34): Show c.311+2628_311+2629insCATCCCTGGCCACACTG	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	675121	A A	ACAGTGTG others(10): Show ACAGTGTGGCCAGGGGTG	intron_variant intron_variant	MODIFIER	HG04199.hp1 NA20905.hp1 HG04199.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0059 a0001c0002t0001 a0001c0002t0059	a0001c0002t0001g0076 a0001c0002t0059g0126 a0001c0002t0001g0076 a0001c0002t0059g0126	2	294	0.0068	17	c.311 others(34): Show c.311+2612_311+2628dupCACCCCTGGCCACACTG	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	675141	G G	GTGTGGCC others(10): Show GTGTGGCCAGGGGTGCAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(175): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19083.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(50): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0068 a0001c0001t0074 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0090 a0001c0003t0005 a0001c0003t0018 a0001c0003t0019 a0001c0003t0027 a0001c0003t0038 a0001c0003t0039 a0001c0004t0001 a0001c0004t0002 a0001c0004t0029 a0001c0004t0036 a0001c0005t0025 a0001c0009t0004 a0001c0009t0007 a0001c0009t0008 a0001c0009t0024 a0001c0009t0089 a0001c0011t0004 a0001c0012t0002 a0002c0007t0007 a0002c0007t0008 a0002c0007t0079	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0012 others(152): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0117 a0001c0001t0002g0151 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0190 a0001c0001t0002g0205 a0001c0001t0002g0237 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0321 a0001c0001t0002g0331 a0001c0001t0002g0345 a0001c0001t0003g0059 a0001c0001t0003g0246 a0001c0001t0003g0260 a0001c0001t0003g0289 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0004g0030 a0001c0001t0004g0187 a0001c0001t0004g0239 a0001c0001t0004g0250 a0001c0001t0004g0259 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0006g0138 a0001c0001t0006g0236 a0001c0001t0006g0316 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0057 a0001c0001t0007g0149 a0001c0001t0010g0056 a0001c0001t0010g0058 a0001c0001t0012g0024 a0001c0001t0012g0198 a0001c0001t0012g0207 a0001c0001t0013g0140 a0001c0001t0013g0171 a0001c0001t0013g0172 a0001c0001t0013g0280 a0001c0001t0014g0153 a0001c0001t0014g0272 a0001c0001t0014g0286 a0001c0001t0014g0295 a0001c0001t0014g0307 a0001c0001t0020g0155 a0001c0001t0020g0156 a0001c0001t0020g0157 a0001c0001t0021g0006 a0001c0001t0023g0162 a0001c0001t0028g0010 a0001c0001t0030g0354 a0001c0001t0030g0355 a0001c0001t0032g0206 a0001c0001t0033g0308 a0001c0001t0033g0309 a0001c0001t0037g0045 a0001c0001t0040g0290 a0001c0001t0041g0189 a0001c0001t0042g0188 a0001c0001t0043g0231 a0001c0001t0048g0318 a0001c0001t0052g0313 a0001c0001t0053g0300 a0001c0001t0068g0276 a0001c0001t0074g0319 a0001c0001t0081g0342 a0001c0001t0082g0123 a0001c0001t0084g0047 a0001c0001t0085g0299 a0001c0001t0086g0350 a0001c0001t0090g0367 a0001c0003t0005g0004 a0001c0003t0005g0009 a0001c0003t0005g0034 a0001c0003t0005g0036 a0001c0003t0005g0037 a0001c0003t0005g0038 a0001c0003t0005g0039 a0001c0003t0005g0040 a0001c0003t0005g0041 a0001c0003t0005g0042 a0001c0003t0005g0043 a0001c0003t0005g0044 a0001c0003t0018g0003 a0001c0003t0019g0175 a0001c0003t0019g0303 a0001c0003t0027g0008 a0001c0003t0038g0150 a0001c0003t0039g0248 a0001c0004t0001g0098 a0001c0004t0001g0101 a0001c0004t0001g0146 a0001c0004t0001g0152 a0001c0004t0001g0163 a0001c0004t0001g0174 a0001c0004t0001g0312 a0001c0004t0001g0320 a0001c0004t0001g0343 a0001c0004t0002g0293 a0001c0004t0029g0035 a0001c0004t0036g0363 a0001c0005t0025g0148 a0001c0009t0004g0048 a0001c0009t0004g0258 a0001c0009t0007g0051 a0001c0009t0008g0050 a0001c0009t0024g0049 a0001c0009t0089g0366 a0001c0011t0004g0263 a0001c0012t0002g0178 a0002c0007t0007g0182 a0002c0007t0008g0020 a0002c0007t0008g0180 a0002c0007t0008g0181 a0002c0007t0008g0184 a0002c0007t0008g0185 a0002c0007t0008g0186 a0002c0007t0008g0230 a0002c0007t0008g0265 a0002c0007t0079g0183	178	293	0.6075	17	c.311 others(34): Show c.311+2608_311+2609insTTGCACCCCTGGCCACA	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	675464	A A	AGGGGGTG others(10): Show AGGGGGTGCAGTGTGGCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0286 a0001c0001t0014g0286	1	388	0.0026	17	c.311 others(34): Show c.311+2269_311+2285dupGGCCACACTGCACCCCC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	675482	A A	AGGGGTGC others(10): Show AGGGGTGCAGTGTGGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(229): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(62): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0030 a0001c0001t0033 a0001c0001t0035 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0048 a0001c0001t0052 a0001c0001t0053 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0090 a0001c0003t0019 a0001c0004t0001 a0001c0004t0002 a0001c0004t0011 a0001c0004t0029 a0001c0005t0025 a0001c0006t0002 a0001c0006t0017 a0001c0006t0050 a0001c0009t0004 a0001c0009t0007 a0001c0009t0008 a0001c0009t0024 a0001c0009t0089 a0001c0010t0002 a0001c0011t0004 a0001c0012t0002 a0002c0007t0007 a0002c0007t0008 a0002c0007t0079	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0012 others(204): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0117 a0001c0001t0002g0151 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0190 a0001c0001t0002g0205 a0001c0001t0002g0214 a0001c0001t0002g0237 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0305 a0001c0001t0002g0310 a0001c0001t0002g0321 a0001c0001t0002g0331 a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0003g0032 a0001c0001t0003g0077 a0001c0001t0003g0100 a0001c0001t0003g0121 a0001c0001t0003g0133 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0203 a0001c0001t0003g0208 a0001c0001t0003g0212 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0260 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0289 a0001c0001t0003g0315 a0001c0001t0003g0317 a0001c0001t0003g0356 a0001c0001t0003g0359 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0004g0030 a0001c0001t0004g0073 a0001c0001t0004g0187 a0001c0001t0004g0250 a0001c0001t0004g0259 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0006g0138 a0001c0001t0006g0159 a0001c0001t0006g0160 a0001c0001t0006g0161 a0001c0001t0006g0166 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0236 a0001c0001t0006g0316 a0001c0001t0006g0330 a0001c0001t0007g0046 a0001c0001t0007g0053 a0001c0001t0007g0060 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0007g0257 a0001c0001t0010g0072 a0001c0001t0010g0179 a0001c0001t0010g0201 a0001c0001t0010g0209 a0001c0001t0010g0210 a0001c0001t0010g0211 a0001c0001t0010g0235 a0001c0001t0012g0052 a0001c0001t0013g0197 a0001c0001t0014g0153 a0001c0001t0014g0272 a0001c0001t0014g0295 a0001c0001t0014g0307 a0001c0001t0016g0011 a0001c0001t0016g0069 a0001c0001t0016g0071 a0001c0001t0020g0155 a0001c0001t0020g0156 a0001c0001t0020g0157 a0001c0001t0021g0006 a0001c0001t0022g0240 a0001c0001t0022g0360 a0001c0001t0023g0162 a0001c0001t0023g0194 a0001c0001t0023g0229 a0001c0001t0024g0061 a0001c0001t0024g0065 a0001c0001t0025g0243 a0001c0001t0025g0244 a0001c0001t0026g0022 a0001c0001t0026g0242 a0001c0001t0028g0010 a0001c0001t0030g0354 a0001c0001t0030g0355 a0001c0001t0033g0308 a0001c0001t0033g0309 a0001c0001t0035g0025 a0001c0001t0040g0290 a0001c0001t0041g0189 a0001c0001t0042g0188 a0001c0001t0043g0231 a0001c0001t0048g0318 a0001c0001t0052g0313 a0001c0001t0053g0300 a0001c0001t0069g0200 a0001c0001t0070g0213 a0001c0001t0071g0070 a0001c0001t0072g0227 a0001c0001t0073g0221 a0001c0001t0074g0319 a0001c0001t0075g0120 a0001c0001t0076g0066 a0001c0001t0077g0271 a0001c0001t0078g0064 a0001c0001t0080g0224 a0001c0001t0081g0342 a0001c0001t0082g0123 a0001c0001t0084g0047 a0001c0001t0085g0299 a0001c0001t0086g0350 a0001c0001t0090g0367 a0001c0003t0019g0175 a0001c0004t0001g0098 a0001c0004t0001g0101 a0001c0004t0001g0139 a0001c0004t0001g0146 a0001c0004t0001g0152 a0001c0004t0001g0163 a0001c0004t0001g0174 a0001c0004t0001g0202 a0001c0004t0001g0215 a0001c0004t0001g0232 a0001c0004t0001g0268 a0001c0004t0001g0312 a0001c0004t0001g0320 a0001c0004t0001g0343 a0001c0004t0002g0293 a0001c0004t0011g0357 a0001c0004t0029g0035 a0001c0005t0025g0148 a0001c0006t0002g0264 a0001c0006t0017g0031 a0001c0006t0017g0266 a0001c0006t0050g0344 a0001c0009t0004g0048 a0001c0009t0004g0258 a0001c0009t0007g0051 a0001c0009t0008g0050 a0001c0009t0024g0049 a0001c0009t0089g0366 a0001c0010t0002g0118 a0001c0010t0002g0216 a0001c0011t0004g0263 a0001c0012t0002g0178 a0002c0007t0007g0182 a0002c0007t0008g0020 a0002c0007t0008g0180 a0002c0007t0008g0181 a0002c0007t0008g0184 a0002c0007t0008g0185 a0002c0007t0008g0186 a0002c0007t0008g0230 a0002c0007t0008g0265 a0002c0007t0079g0183	232	374	0.6203	17	c.311 others(34): Show c.311+2267_311+2268insCGGCCACACTGCACCCC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	675482	A A	ATGGGTGC others(10): Show ATGGGTGCAGTGTGGCCG	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02451.hp2 HG02615.hp2 others(10): Show HG02273.hp1 HG02451.hp2 HG02615.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03540.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0032	a0001c0001t0003g0059 a0001c0001t0004g0239 a0001c0001t0007g0054 others(9): Show a0001c0001t0003g0059 a0001c0001t0004g0239 a0001c0001t0007g0054 a0001c0001t0007g0055 a0001c0001t0007g0057 a0001c0001t0007g0149 a0001c0001t0010g0056 a0001c0001t0010g0058 a0001c0001t0012g0024 a0001c0001t0012g0198 a0001c0001t0012g0207 a0001c0001t0032g0206	13	155	0.0839	17	c.311 others(34): Show c.311+2267_311+2268insCGGCCACACTGCACCCA	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	675486	G G	GTGCAGTG others(10): Show GTGCAGTGTGGCCGGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02145.hp1 others(7): Show HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02622.hp2 HG02723.hp2 HG02976.hp2 HG03453.hp2 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0017 a0001c0006t0056 a0001c0006t0004 a0001c0006t0017 a0001c0006t0056	a0001c0006t0004g0026 a0001c0006t0004g0335 a0001c0006t0004g0336 others(6): Show a0001c0006t0004g0026 a0001c0006t0004g0335 a0001c0006t0004g0336 a0001c0006t0004g0337 a0001c0006t0004g0339 a0001c0006t0004g0340 a0001c0006t0004g0348 a0001c0006t0017g0338 a0001c0006t0056g0349	10	408	0.0245	17	c.311 others(34): Show c.311+2263_311+2264insACCCCGGCCACACTGCA	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TPPP_chr5_654862_698352	679394	C C	CGTGGGGG others(10): Show CGTGGGGGCAGGATCCTG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01081.hp1 others(41): Show HG00558.hp1 HG00738.hp1 HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01261.hp1 HG01261.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02165.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18906.hp2 NA18962.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA19067.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0077 a0001c0001t0081 a0001c0001t0085 a0001c0001t0086 a0001c0003t0019 a0001c0004t0001 a0001c0006t0056 a0001c0011t0004	a0001c0001t0002g0012 a0001c0001t0002g0096 a0001c0001t0002g0190 others(37): Show a0001c0001t0002g0012 a0001c0001t0002g0096 a0001c0001t0002g0190 a0001c0001t0002g0287 a0001c0001t0003g0246 a0001c0001t0003g0260 a0001c0001t0004g0030 a0001c0001t0004g0187 a0001c0001t0004g0250 a0001c0001t0004g0259 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0007g0046 a0001c0001t0007g0053 a0001c0001t0007g0060 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0020g0155 a0001c0001t0020g0156 a0001c0001t0020g0157 a0001c0001t0021g0006 a0001c0001t0023g0162 a0001c0001t0030g0354 a0001c0001t0030g0355 a0001c0001t0041g0189 a0001c0001t0042g0188 a0001c0001t0077g0271 a0001c0001t0081g0342 a0001c0001t0085g0299 a0001c0001t0086g0350 a0001c0003t0019g0175 a0001c0004t0001g0163 a0001c0004t0001g0174 a0001c0004t0001g0343 a0001c0006t0056g0349 a0001c0011t0004g0263	44	377	0.1167	17	c.-4- others(32): Show c.-4-1347_-4-1331dupCAGGATCCTGCCCCCAC	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	1/3			chr5	TogoVar
TPRG1_chr3_189166971_189330304	189312135	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0077 a0001c0001t0011g0077	1	242	0.0041	17	c.633 others(34): Show c.633+1596_633+1597insCTCTCTCTCTCTCTCTC	TPRG1	ENSG00000188001.10	transcript	ENST00000345063.8	protein_coding	5/5			chr3	TogoVar
TPSB2_chr16_1223336_1235184	1233264	T T	TTAAAAAA others(10): Show TTAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	60	0.0167	17	c.-31 others(28): Show c.-3104_-3103insTTTTTTTTTTTTTTTTA	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		3081		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1253135	C C	CCTTTTTT others(10): Show CCTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0013 a0002c0002t0042g0013	1	9	0.1111	17	c.-31 others(28): Show c.-3146_-3145insCTTTTTTTTTTTTTTTT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		2933		chr16	TogoVar
TPSD1_chr16_1251069_1264008	1253135	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00735.hp1 others(22): Show HG00323.hp2 HG00423.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01258.hp2 HG01978.hp2 HG01981.hp1 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02809.hp1 HG02922.hp1 HG03239.hp2 HG03516.hp2 HG04199.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18980.hp1 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0012 a0003c0003 others(1): Show a0002c0002 a0002c0012 a0003c0003 a0004c0004	a0002c0002t0002 a0002c0002t0008 a0002c0002t0018 others(11): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0018 a0002c0002t0081 a0002c0002t0083 a0002c0002t0085 a0002c0012t0002 a0002c0012t0028 a0003c0003t0003 a0003c0003t0007 a0003c0003t0073 a0004c0004t0002 a0004c0004t0006 a0004c0004t0079	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0008g0005 others(13): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0008g0005 a0002c0002t0008g0016 a0002c0002t0018g0002 a0002c0002t0081g0002 a0002c0002t0083g0002 a0002c0002t0085g0002 a0002c0012t0002g0002 a0002c0012t0028g0002 a0003c0003t0003g0003 a0003c0003t0007g0003 a0003c0003t0073g0003 a0004c0004t0002g0002 a0004c0004t0006g0002 a0004c0004t0079g0002	25	33	0.7576	17	c.-31 others(28): Show c.-3146_-3145insTTTTTTTTTTTTTTTTT	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding		2933		chr16	TogoVar
TPST1_chr7_66200334_66365443	66227028	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	131	0.0076	17	c.-10 others(38): Show c.-101-13290_-101-13274dupTTTTTTTTTTTTTTTTT	TPST1	ENSG00000169902.15	transcript	ENST00000304842.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr7	TogoVar
TPST2_chr22_26516996_26595132	26530631	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG04199.hp2 NA18612.hp1 others(4): Show HG00323.hp1 HG04199.hp2 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18987.hp2 NA18992.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 others(1): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0027 a0002c0002t0015	a0001c0001t0003g0296 a0001c0001t0003g0308 a0001c0001t0007g0060 others(4): Show a0001c0001t0003g0296 a0001c0001t0003g0308 a0001c0001t0007g0060 a0001c0001t0007g0077 a0001c0001t0007g0080 a0001c0001t0027g0148 a0002c0002t0015g0072	7	211	0.0332	17	c.109 others(36): Show c.1092+2063_1092+2064insTTTTTTTTTTTTTTTTT	TPST2	ENSG00000128294.16	transcript	ENST00000338754.9	protein_coding	5/6			chr22	TogoVar
TPT1_chr13_45328471_45346183	45341290	C C	CGCGGGGG others(10): Show CGCGGGGGCGGGGCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04204.hp2 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	2	366	0.0055	17	c.-22 others(26): Show c.-222_-221insTGTGGCCCCGCCCCCGC	TPT1	ENSG00000133112.17	transcript	ENST00000530705.6	protein_coding		108		chr13	TogoVar
TPTE2_chr13_19417877_19566532	19506160	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	10	0.1000	17	c.-43 others(34): Show c.-43-2900_-43-2884dupAAAAAAAAAAAAAAAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding	3/22			chr13	TogoVar
TPTE2_chr13_19417877_19566532	19565207	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG02895.hp2 HG01169.hp1 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0080 a0002c0003t0002g0093 a0001c0001t0002g0080 a0002c0003t0002g0093	2	5	0.4000	17	c.-40 others(28): Show c.-4023_-4022insAAAAAAAAAAAAAAAAA	TPTE2	ENSG00000132958.19	transcript	ENST00000697147.1	protein_coding		3676		chr13	TogoVar
TPTE_chr21_10516583_10610716	10592805	G G	GGTTGTGT others(10): Show GGTTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0124 a0001c0003t0002g0124	1	108	0.0093	17	c.117 others(34): Show c.1170+434_1170+435insTGTGTGTGTGTGTGTGT	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TRA2A_chr7_23499780_23536981	23517503	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	300	0.0033	17	c.171 others(32): Show c.171-976_171-975insCTTTTTTTTTTTTTTTT	TRA2A	ENSG00000164548.12	transcript	ENST00000297071.9	protein_coding	2/7			chr7	TogoVar
TRABD2A_chr2_84816666_84886084	84863239	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02572.hp2 HG03486.hp1 others(1): Show HG01071.hp2 HG02572.hp2 HG03486.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0002c0002t0001g0226 a0002c0002t0001g0227 a0001c0001t0001g0008 a0002c0002t0001g0226 a0002c0002t0001g0227	4	152	0.0263	17	c.669 others(34): Show c.669+6969_669+6985dupAAAAAAAAAAAAAAAAA	TRABD2A	ENSG00000186854.11	transcript	ENST00000409520.7	protein_coding	2/6			chr2	TogoVar
TRABD2B_chr1_47755528_48002385	47965201	C C	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0085 a0002c0003t0010g0085	1	161	0.0062	17	c.666 others(36): Show c.666+28832_666+28833insACCCCCCCCCCCCCCCC	TRABD2B	ENSG00000269113.4	transcript	ENST00000606738.3	protein_coding	2/6			chr1	TogoVar
TRAF1_chr9_120897393_120931796	120915998	A A	ATGTCTGC others(10): Show ATGTCTGCACAAAGGTGT	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	364	0.0027	17	c.229 others(34): Show c.229-1715_229-1699dupACACCTTTGTGCAGACA	TRAF1	ENSG00000056558.11	transcript	ENST00000373887.8	protein_coding	3/7			chr9	TogoVar
TRAF3IP3_chr1_209751053_209787310	209765227	G G	GGAGAGAG others(10): Show GGAGAGAGAGAGAGAGGA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0301 a0001c0002t0002g0301	1	243	0.0041	17	c.702 others(34): Show c.702+1640_702+1641insGAGAGAGAGAGAGAGGA	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	8/16			chr1	TogoVar
TRAF3IP3_chr1_209751053_209787310	209765229	G G	GAGAGAGG others(10): Show GAGAGAGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19081.hp2 NA19067.hp1 NA19081.hp2	a0001 a0012 a0001 a0012	a0001c0007 a0012c0020 a0001c0007 a0012c0020	a0001c0007t0002 a0012c0020t0002 a0001c0007t0002 a0012c0020t0002	a0001c0007t0002g0243 a0012c0020t0002g0248 a0001c0007t0002g0243 a0012c0020t0002g0248	2	412	0.0049	17	c.702 others(34): Show c.702+1642_702+1643insAGAGAGGGAGAGAGAGA	TRAF3IP3	ENSG00000009790.15	transcript	ENST00000367025.8	protein_coding	8/16			chr1	TogoVar
TRAF3_chr14_102772449_102916500	102773677	G G	GAACAACT others(10): Show GAACAACTGGGTTACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0221 a0002c0002t0001g0221	1	294	0.0034	17	c.-41 others(28): Show c.-4155_-4154insAACAACTGGGTTACCAT	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding		3771		chr14	TogoVar
TRAF3_chr14_102772449_102916500	102811913	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	16	0.0625	17	c.-15 others(38): Show c.-156-18407_-156-18391dupTTTTTTTTTTTTTTTTT	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRAF3_chr14_102772449_102916500	102820614	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0037 a0001c0001t0008g0037	1	204	0.0049	17	c.-15 others(36): Show c.-156-9719_-156-9718insATATATATATATATATT	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRAF3_chr14_102772449_102916500	102820614	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0052 a0001c0001t0025g0052	1	204	0.0049	17	c.-15 others(36): Show c.-156-9719_-156-9718insATATATATATATATTTT	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
TRAF3_chr14_102772449_102916500	102820615	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	276	0.0036	17	c.-15 others(36): Show c.-156-9719_-156-9718insATATATATATATATATA	TRAF3	ENSG00000131323.17	transcript	ENST00000392745.8	protein_coding	1/11			chr14	TogoVar
TRAK1_chr3_42086357_42230890	42136645	A A	ATAAATAA others(10): Show ATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0239 a0001c0001t0003g0239	1	131	0.0076	17	c.286 others(36): Show c.286+11031_286+11032insTAAATAAATAAATAAAT	TRAK1	ENSG00000182606.17	transcript	ENST00000327628.10	protein_coding	2/15			chr3	TogoVar
TRAK1_chr3_42086357_42230890	42191895	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0018 a0001c0009t0018	a0001c0009t0018g0228 a0001c0009t0018g0228	1	35	0.0286	17	c.769 others(32): Show c.769+266_769+282dupTTTTTTTTTTTTTTTTT	TRAK1	ENSG00000182606.17	transcript	ENST00000327628.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRAK1_chr3_42086357_42230890	42226072	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01192.hp1 HG01884.hp1 others(8): Show HG00609.hp1 HG01192.hp1 HG01884.hp1 HG01891.hp1 HG02258.hp1 HG02486.hp1 HG02615.hp2 HG02809.hp1 HG03453.hp1 NA19030.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0025	a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0001c0004t0016 a0001c0005t0005 a0001c0006t0005 a0001c0007t0007 a0001c0025t0003	a0001c0001t0002g0271 a0001c0001t0003g0022 a0001c0001t0003g0232 others(8): Show a0001c0001t0002g0271 a0001c0001t0003g0022 a0001c0001t0003g0232 a0001c0002t0003g0159 a0001c0003t0003g0117 a0001c0004t0016g0093 a0001c0005t0005g0132 a0001c0005t0005g0207 a0001c0006t0005g0016 a0001c0007t0007g0197 a0001c0025t0003g0213	11	31	0.3548	17	c.23 others(28): Show c.2335_*2336insTTTTTTTTTTTTTTTTT	TRAK1	ENSG00000182606.17	transcript	ENST00000327628.10	protein_coding		183		chr3	TogoVar
TRAM2_chr6_52492408_52582060	52541803	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG03516.hp1 others(2): Show HG01891.hp2 HG02486.hp2 HG03516.hp1 HG03540.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0056 others(1): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0056 a0001c0001t0098	a0001c0001t0018g0213 a0001c0001t0019g0082 a0001c0001t0019g0100 others(2): Show a0001c0001t0018g0213 a0001c0001t0019g0082 a0001c0001t0019g0100 a0001c0001t0056g0188 a0001c0001t0098g0335	5	51	0.0980	17	c.121 others(34): Show c.121-5958_121-5957insAAAAAAAAAAAAAAAAA	TRAM2	ENSG00000065308.5	transcript	ENST00000182527.4	protein_coding	1/10			chr6	TogoVar
TRAM2_chr6_52492408_52582060	52549236	T T	TCCTTCCC others(10): Show TCCTTCCCTCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0355 a0001c0001t0092g0355	1	365	0.0027	17	c.121 others(36): Show c.121-13407_121-13391dupGAGGGAAGGAGGGAAGG	TRAM2	ENSG00000065308.5	transcript	ENST00000182527.4	protein_coding	1/10			chr6	TogoVar
TRANK1_chr3_36821819_36950054	36900851	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp2 others(12): Show HG00099.hp1 HG00642.hp1 HG00733.hp2 HG01070.hp2 HG01975.hp2 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG02818.hp2 HG02976.hp2 HG03471.hp1 HG03579.hp2 NA18994.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0037 a0002c0007 others(1): Show a0001c0001 a0001c0037 a0002c0007 a0012c0030	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0037t0001 a0002c0007t0002 a0012c0030t0003	a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0082 others(12): Show a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0001g0187 a0001c0001t0001g0257 a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0004g0043 a0001c0001t0011g0160 a0001c0037t0001g0152 a0002c0007t0002g0222 a0012c0030t0003g0021	15	21	0.7143	17	c.283 others(34): Show c.283-1609_283-1593dupTTTTTTTTTTTTTTTTT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	3/23			chr3	TogoVar
TRAP1_chr16_3653037_3722524	3653806	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 NA18964.hp2 NA18983.hp2 others(1): Show HG00408.hp1 NA18964.hp2 NA18983.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0151 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0151 a0001c0001t0001g0173	4	46	0.0870	17	c.43 others(28): Show c.4306_*4322dupTTTTTTTTTTTTTTTTT	TRAP1	ENSG00000126602.11	transcript	ENST00000246957.10	protein_coding		4230		chr16	TogoVar
TRAP1_chr16_3653037_3722524	3670382	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02055.hp1 HG01175.hp2 HG02055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0128 a0003c0004t0001g0166 a0001c0001t0001g0128 a0003c0004t0001g0166	2	128	0.0156	17	c.123 others(36): Show c.1235+1323_1235+1339dupTTTTTTTTTTTTTTTTT	TRAP1	ENSG00000126602.11	transcript	ENST00000246957.10	protein_coding	11/17			chr16	TogoVar
TRAP1_chr16_3653037_3722524	3710879	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	92	0.0109	17	c.88+ others(32): Show c.88+6541_88+6542insATATATATATATATATA	TRAP1	ENSG00000126602.11	transcript	ENST00000246957.10	protein_coding	1/17			chr16	TogoVar
TRAPPC13_chr5_65620027_65671233	65627131	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	111	0.0090	17	c.46+ others(32): Show c.46+2035_46+2051dupAAAAAAAAAAAAAAAAA	TRAPPC13	ENSG00000113597.18	transcript	ENST00000399438.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRAPPC13_chr5_65620027_65671233	65629265	T T	TATAGGGC others(10): Show TATAGGGCATCTAGTTCA	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	364	0.0027	17	c.46+ others(32): Show c.46+4160_46+4176dupATAGGGCATCTAGTTCA	TRAPPC13	ENSG00000113597.18	transcript	ENST00000399438.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr5	TogoVar

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