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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PFKP_chr10_3062548_3141802	3131259	CAGGCTCT others(30): Show CAGGCTCTGCCTCCTGGGTTTGTGTGAGTTCACTGTAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0185 a0001c0044t0001g0185	1	400	0.0025	-37	c.184 others(56): Show c.1849-1120_1849-1084delAGGCTCTGCCTCCTGGGTTTGTGTGA GTTCACTGTAG		PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	17/21						chr10	TogoVar
PGAP4_chr9_101468170_101492173	101488276	AGTATGAG others(30): Show AGTATGAGAGCTGGATATAGCACAGAAAGGGAGCTTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0141 a0001c0001t0027g0141	1	458	0.0022	-37	c.-14 others(48): Show c.-1442_-1406delCCAAGCTCCCTTTCTGTGCTATATCCAGCTCTCA TAC		PGAP4	ENSG00000165152.9	transcript	ENST00000374848.8	protein_coding					1104		chr9	TogoVar
PGLYRP1_chr19_46014153_46028053	46025997	AGCTACAT others(30): Show AGCTACATGATCTTGGGAAATTGGATAGCAATTGACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	454	0.0022	-37	c.-30 others(48): Show c.-3013_-2977delGTGTCAATTGCTATCCAATTTCCCAAGATCATGT AGC		PGLYRP1	ENSG00000008438.5	transcript	ENST00000008938.5	protein_coding					2945		chr19	TogoVar
PGM1_chr1_63588411_63665245	63633906	GTGTGTGT others(30): Show GTGTGTGTGTGTGTATATATATATATATTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0292 a0006c0007t0001g0292	1	338	0.0030	-37	c.683 others(52): Show c.683-921_683-885delGTGTGTGTGTGTATATATATATATATTTTT TTTTTTT		PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
PHB1_chr17_49399052_49419882	49419665	CGGGCAGA others(30): Show CGGGCAGAGGCGCTCCTCACCTCCCAGATGGGGCGGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18970.hp1 NA18974.hp2 others(4): Show HG00597.hp1 NA18970.hp1 NA18974.hp2 NA18995.hp1 NA19059.hp2 NA19062.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	7	440	0.0159	-37	c.-48 others(48): Show c.-4895_-4859delAGCCGCCCCATCTGGGAGGTGAGGAGCGCCTCTG CCC		PHB1	ENSG00000167085.14	transcript	ENST00000300408.8	protein_coding					4784		chr17	TogoVar
PHLDB3_chr19_43470103_43509746	43507142	CCCTCAGA others(30): Show CCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(248): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0009 a0010 a0012 a0014	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0016 a0001c0023 a0002c0005 a0003c0012 a0004c0014 a0005c0015 a0009c0028 a0010c0030 a0012c0022 a0014c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0003 a0001c0003t0010 a0001c0004t0001 a0001c0004t0006 a0001c0006t0001 a0001c0006t0004 a0001c0007t0003 a0001c0016t0003 a0001c0023t0001 a0002c0005t0001 a0002c0005t0004 a0003c0012t0001 a0004c0014t0006 a0005c0015t0001 a0009c0028t0004 a0010c0030t0001 a0012c0022t0001 a0014c0019t0001	a0001c0001t0001g0013 a0001c0001t0001g0185 a0001c0001t0001g0219 others(241): Show a0001c0001t0001g0013 a0001c0001t0001g0185 a0001c0001t0001g0219 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0004g0297 a0001c0001t0009g0041 a0001c0002t0001g0308 a0001c0002t0001g0320 a0001c0002t0001g0331 a0001c0002t0001g0341 a0001c0002t0002g0063 a0001c0003t0001g0192 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0313 a0001c0003t0010g0289 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0223 a0001c0004t0001g0230 a0001c0004t0001g0236 a0001c0004t0001g0237 a0001c0004t0001g0241 a0001c0004t0001g0243 a0001c0004t0001g0247 a0001c0004t0001g0248 a0001c0004t0001g0249 a0001c0004t0001g0251 a0001c0004t0001g0252 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0261 a0001c0004t0001g0262 a0001c0004t0001g0266 a0001c0004t0001g0267 a0001c0004t0001g0270 a0001c0004t0001g0271 a0001c0004t0001g0272 a0001c0004t0001g0273 a0001c0004t0001g0274 a0001c0004t0001g0290 a0001c0004t0001g0361 a0001c0004t0001g0362 a0001c0004t0006g0172 a0001c0004t0006g0174 a0001c0004t0006g0175 a0001c0004t0006g0177 a0001c0006t0001g0010 a0001c0006t0001g0221 a0001c0006t0001g0222 a0001c0006t0001g0225 a0001c0006t0001g0226 a0001c0006t0001g0227 a0001c0006t0001g0228 a0001c0006t0001g0229 a0001c0006t0001g0231 a0001c0006t0001g0234 a0001c0006t0001g0235 a0001c0006t0001g0238 a0001c0006t0001g0239 a0001c0006t0001g0240 a0001c0006t0001g0242 a0001c0006t0001g0245 a0001c0006t0001g0246 a0001c0006t0001g0250 a0001c0006t0001g0253 a0001c0006t0001g0255 a0001c0006t0001g0263 a0001c0006t0001g0276 a0001c0006t0001g0359 a0001c0006t0001g0360 a0001c0006t0004g0224 a0001c0007t0003g0232 a0001c0007t0003g0233 a0001c0007t0003g0244 a0001c0007t0003g0254 a0001c0007t0003g0265 a0001c0007t0003g0269 a0001c0007t0003g0275 a0001c0016t0003g0186 a0001c0016t0003g0187 a0001c0023t0001g0256 a0002c0005t0001g0162 a0002c0005t0004g0005 a0002c0005t0004g0147 a0002c0005t0004g0149 a0002c0005t0004g0150 a0002c0005t0004g0151 a0002c0005t0004g0152 a0002c0005t0004g0153 a0002c0005t0004g0154 a0002c0005t0004g0155 a0002c0005t0004g0156 a0002c0005t0004g0157 a0002c0005t0004g0158 a0002c0005t0004g0159 a0002c0005t0004g0160 a0002c0005t0004g0161 a0002c0005t0004g0163 a0002c0005t0004g0164 a0002c0005t0004g0165 a0002c0005t0004g0166 a0002c0005t0004g0167 a0002c0005t0004g0168 a0002c0005t0004g0170 a0002c0005t0004g0171 a0002c0005t0004g0178 a0002c0005t0004g0179 a0002c0005t0004g0180 a0002c0005t0004g0181 a0002c0005t0004g0182 a0002c0005t0004g0183 a0002c0005t0004g0184 a0003c0012t0001g0014 a0003c0012t0001g0333 a0004c0014t0006g0148 a0004c0014t0006g0173 a0004c0014t0006g0176 a0005c0015t0001g0354 a0005c0015t0001g0355 a0005c0015t0001g0356 a0009c0028t0004g0169 a0010c0030t0001g0353 a0012c0022t0001g0220 a0014c0019t0001g0291	251	394	0.6371	-37	c.-26 others(48): Show c.-2605_-2569delAAGGAAGGGCTGGGGGACTGGACTCCTGGGTCTG AGG		PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding					2397		chr19	TogoVar
PHLDB3_chr19_43470103_43509746	43507753	CCTCCTCC others(30): Show CCTCCTCCCTTAGACCCAGGAGTCCAGGCCCCCAGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	394	0.0025	-37	c.-32 others(48): Show c.-3216_-3180delAGGCTGGGGGCCTGGACTCCTGGGTCTAAGGGAG GAG		PHLDB3	ENSG00000176531.11	transcript	ENST00000292140.10	protein_coding					3008		chr19	TogoVar
PHYHIPL_chr10_59171643_59252770	59180294	AATATATA others(30): Show AATATATATATATAGAAAAAGTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0117 a0002c0002t0001g0117	1	195	0.0051	-37	c.106 others(54): Show c.106+3349_106+3385delGAAAAAGTATATATATATATATATATAT ATATATATA		PHYHIPL	ENSG00000165443.12	transcript	ENST00000373880.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr10	TogoVar
PI4K2A_chr10_97635671_97681434	97678879	GGGTGTGT others(30): Show GGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0095 a0001c0003t0003g0095	1	344	0.0029	-37	c.51 others(48): Show c.5138_*5174delGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGT		PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding					2446		chr10	TogoVar
PIAS2_chr18_46798218_46922507	46803044	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	37	0.0270	-37	c.93 others(48): Show c.9352_*9388delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding					173		chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10944488	CATATATA others(30): Show CATATATATATATATATATCTTAGTAACAGATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01106.hp1 HG01175.hp2 others(16): Show HG00639.hp2 HG01106.hp1 HG01175.hp2 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02572.hp1 HG02615.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0007 a0010 a0012 a0018 a0022	a0001c0002 a0001c0003 a0001c0007 others(12): Show a0001c0002 a0001c0003 a0001c0007 a0001c0021 a0001c0047 a0001c0088 a0002c0001 a0002c0045 a0003c0011 a0005c0080 a0007c0004 a0010c0010 a0012c0079 a0018c0029 a0022c0091	a0001c0002t0001 a0001c0003t0002 a0001c0007t0001 others(13): Show a0001c0002t0001 a0001c0003t0002 a0001c0007t0001 a0001c0021t0002 a0001c0047t0002 a0001c0088t0001 a0002c0001t0001 a0002c0001t0002 a0002c0045t0001 a0003c0011t0001 a0005c0080t0002 a0007c0004t0003 a0010c0010t0001 a0012c0079t0002 a0018c0029t0002 a0022c0091t0001	a0001c0002t0001g0109 a0001c0003t0002g0148 a0001c0007t0001g0101 others(16): Show a0001c0002t0001g0109 a0001c0003t0002g0148 a0001c0007t0001g0101 a0001c0021t0002g0089 a0001c0047t0002g0144 a0001c0088t0001g0123 a0002c0001t0001g0087 a0002c0001t0001g0118 a0002c0001t0002g0027 a0002c0001t0002g0146 a0002c0001t0002g0151 a0002c0045t0001g0072 a0003c0011t0001g0054 a0005c0080t0002g0090 a0007c0004t0003g0149 a0010c0010t0001g0076 a0012c0079t0002g0125 a0018c0029t0002g0117 a0022c0091t0001g0017	19	73	0.2603	-37	c.287 others(56): Show c.287-33297_287-33261delATATATATCTGTTACTAAGATATATA TATATATATAT		PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55						chr18	TogoVar
PIFO_chr1_111341622_111358013	111357625	AAAAGTGT others(30): Show AAAAGTGTACTTGGACCAGAATCAGATGGCATCCATTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	438	0.0023	-37	c.62 others(48): Show c.6299_*6335delAAAGTGTACTTGGACCAGAATCAGATGGCATCCA TTC		PIFO	ENSG00000173947.14	transcript	ENST00000369738.9	protein_coding					4613		chr1	TogoVar
PIK3CB_chr3_138647698_138839928	138693936	AATATATA others(30): Show AATATATATATATATATATATATATATATATTATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	162	0.0062	-37	c.189 others(54): Show c.1892+813_1892+849delATATATAATATATATATATATATATATA TATATATAT		PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23						chr3	TogoVar
PIK3IP1_chr22_31276600_31297488	31282906	CCAGCCTT others(30): Show CCAGCCTTACCCTCAGCCCACAGGGCCACCTGCTTCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0141 a0002c0002t0020g0141	1	420	0.0024	-37	c.14 others(46): Show c.141_*177delCAGAAGCAGGTGGCCCTGTGGGCTGAGGGTAAGGCT G		PIK3IP1	ENSG00000100100.13	transcript	ENST00000215912.10	protein_coding	6/6				141		chr22	TogoVar
PIK3R6_chr17_8797722_8872674	8827742	GGAGAGAG others(30): Show GGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0303 a0001c0005t0001g0303	1	318	0.0031	-37	c.139 others(54): Show c.1392+333_1392+369delTCTCTCTCTCTCTCTCCTCTCTCTCTCT CTCTCTCTC		PIK3R6	ENSG00000276231.5	transcript	ENST00000619866.5	protein_coding	12/19						chr17	TogoVar
PIM3_chr22_49955772_49969072	49964840	GTGCTGGG others(30): Show GTGCTGGGCTGTGGGGTGCCCCATGTTGGCAGTGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0002 a0001c0003t0017g0002	1	424	0.0024	-37	c.17 others(48): Show c.1714_*1750delTGCTGGGCTGTGGGGTGCCCCATGTTGGCAGTGG ACC		PIM3	ENSG00000198355.5	transcript	ENST00000360612.5	protein_coding					769		chr22	TogoVar
PINX1_chr8_10759961_10844875	10767711	GGGCACCC others(30): Show GGGCACCCTCACAGCCACAGAGACAGGCTCGGTGACCA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18982.hp1 NA19068.hp2 NA18977.hp1 NA18982.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095	3	241	0.0124	-37	c.472 others(54): Show c.472-1832_472-1796delTGGTCACCGAGCCTGTCTCTGTGGCTGT GAGGGTGCC		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6						chr8	TogoVar
PINX1_chr8_10759961_10844875	10805607	TAGCGCTG others(30): Show TAGCGCTGAGTGGGTGACGGAGCACAGGAAGGGGCCAC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp1 HG03098.hp2 HG02630.hp2 HG02896.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0004 a0002c0002t0001 a0002c0002t0004	a0002c0002t0001g0022 a0002c0002t0004g0010 a0002c0002t0001g0022 a0002c0002t0004g0010	3	352	0.0085	-37	c.471 others(56): Show c.471+14549_471+14585delGTGGCCCCTTCCTGTGCTCCGTCACC CACTCAGCGCT		PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	6/6						chr8	TogoVar
PIP4P1_chr14_20452681_20466434	20455172	CGCCTCTG others(30): Show CGCCTCTGATCACGTGACCAGGTCCGCTACCCACGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	466	0.0021	-37	c.33 others(48): Show c.3350_*3386delCCACGTGGGTAGCGGACCTGGTCACGTGATCAGA GGC		PIP4P1	ENSG00000165782.11	transcript	ENST00000250489.9	protein_coding					2508		chr14	TogoVar
PISD_chr22_31613491_31667215	31658063	TATTCAGT others(30): Show TATTCAGTTATTTGTTTACTGTATGTATACCTCGATGA	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	326	0.0031	-37	c.65+ others(52): Show c.65+4044_65+4080delTCATCGAGGTATACATACAGTAAACAAATA ACTGAAT		PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	1/7						chr22	TogoVar
PJA2_chr5_109329722_109414974	109337881	GCACAGAT others(30): Show GCACAGATATGTCAAAGCAGATGGACTTCAGACTTTCT	G G	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0059 a0003c0003t0002g0059	1	344	0.0029	-37	c.200 others(54): Show c.2002-562_2002-526delAGAAAGTCTGAAGTCCATCTGCTTTGAC ATATCTGTG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9						chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100314984	AAGGAAGG others(30): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp1 HG01433.hp1 HG02258.hp1	a0001 a0001	a0001c0010 a0001c0017 a0001c0010 a0001c0017	a0001c0010t0001 a0001c0017t0001 a0001c0010t0001 a0001c0017t0001	a0001c0010t0001g0277 a0001c0017t0001g0017 a0001c0010t0001g0277 a0001c0017t0001g0017	2	303	0.0066	-37	c.349 others(56): Show c.349+14190_349+14226delCCCTTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCT		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314997	AGGAAGGA others(30): Show AGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18999.hp1 NA19058.hp2 others(1): Show NA18984.hp1 NA18999.hp1 NA19058.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0238 a0001c0001t0001g0239 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0246	4	266	0.0150	-37	c.349 others(56): Show c.349+14177_349+14213delCTTCCCTTCCCTTCCCTTCCCTTCCT TCCTTCCTTCC		PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15						chr10	TogoVar
PKP2_chr12_32785755_32901777	32858116	TTTATATA others(30): Show TTTATATATATTTTATATTTATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0028 a0002c0002t0003g0028	1	340	0.0029	-37	c.117 others(56): Show c.1171-7180_1171-7144delTTATATATATATATATATAAATATAA AATATATATAA		PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12						chr12	TogoVar
PKP3_chr11_389209_409908	401873	CCCCCGAC others(30): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0120 a0001c0012t0001g0120	1	212	0.0047	-37	c.173 others(56): Show c.1737+1169_1738-1168delCCCCGACCCCCGGCCCCGCTCACCCC CGGCTCCACTG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	402246	CCCCGACC others(30): Show CCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp2 HG03927.hp1 HG01175.hp2 HG02145.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0001t0001 a0001c0005t0001 a0001c0006t0001	a0001c0001t0001g0082 a0001c0005t0001g0013 a0001c0006t0001g0049 a0001c0001t0001g0082 a0001c0005t0001g0013 a0001c0006t0001g0049	3	209	0.0144	-37	c.173 others(54): Show c.1738-828_1738-792delGACCCCCGGCCCCGCTCACCCCCGGCTC CACTGACCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4C_chr19_48042846_48115817	48081792	ACATTGGG others(30): Show ACATTGGGGCCAGGTGTGGTGGCTCATGCCTGTAATCC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01256.hp2 HG01258.hp2 others(9): Show HG01175.hp2 HG01256.hp2 HG01258.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02273.hp1 HG02451.hp1 HG03017.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1	a0001 a0003 a0007 others(3): Show a0001 a0003 a0007 a0009 a0018 a0027	a0001c0001 a0003c0003 a0007c0009 others(5): Show a0001c0001 a0003c0003 a0007c0009 a0007c0055 a0009c0017 a0018c0038 a0018c0044 a0027c0070	a0001c0001t0001 a0003c0003t0002 a0007c0009t0002 others(6): Show a0001c0001t0001 a0003c0003t0002 a0007c0009t0002 a0007c0009t0017 a0007c0055t0005 a0009c0017t0002 a0018c0038t0003 a0018c0044t0008 a0027c0070t0005	a0001c0001t0001g0099 a0003c0003t0002g0213 a0007c0009t0002g0209 others(9): Show a0001c0001t0001g0099 a0003c0003t0002g0213 a0007c0009t0002g0209 a0007c0009t0002g0210 a0007c0009t0002g0228 a0007c0009t0002g0243 a0007c0009t0017g0203 a0007c0055t0005g0233 a0009c0017t0002g0192 a0018c0038t0003g0166 a0018c0044t0008g0158 a0027c0070t0005g0247	12	320	0.0375	-37	c.844 others(54): Show c.844+3230_844+3266delGGATTACAGGCATGAGCCACCACACCTG GCCCCAATG		PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	10/16						chr19	TogoVar
PLD1_chr3_171595404_171815483	171764901	AAGGAAGG others(30): Show AAGGAAGGAAGGAAAGAAAGAAAGGAAAGAAAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0005 a0001c0005t0014g0005	1	292	0.0034	-37	c.-31 others(56): Show c.-31-26856_-31-26820delCTTTCCTTTCTTTCCTTTCTTTCTTT CCTTCCTTCCT		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLD1_chr3_171595404_171815483	171764920	GAAAGGAA others(30): Show GAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03492.hp2 HG03688.hp1 HG00423.hp2 HG03492.hp2 HG03688.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0031 a0002c0003t0003g0039 a0002c0003t0003g0042 a0002c0003t0003g0031 a0002c0003t0003g0039 a0002c0003t0003g0042	3	284	0.0106	-37	c.-31 others(56): Show c.-31-26875_-31-26839delTTTCTTTCTTTCTTTCTTTCTTTCCT TTCTTTCCTTT		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLD1_chr3_171595404_171815483	171764924	GGAAAGAA others(30): Show GGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	227	0.0044	-37	c.-31 others(56): Show c.-31-26879_-31-26843delTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTTCTTTC		PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26						chr3	TogoVar
PLEKHA3_chr2_178475457_178521463	178521220	TATGTCCC others(30): Show TATGTCCCTCCCTAAGAGATGTTGGACTCATAACCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0142 a0001c0002t0142	a0001c0002t0142g0018 a0001c0002t0142g0018	1	380	0.0026	-37	c.17 others(50): Show c.17334_*17370delATGTCCCTCCCTAAGAGATGTTGGACTCATAA CCTCA		PLEKHA3	ENSG00000116095.11	transcript	ENST00000234453.10	protein_coding					4758		chr2	TogoVar
PLEKHA4_chr19_48832097_48873617	48834421	TTGGACTC others(30): Show TTGGACTCCTGGGTCTGAGGGAGGAGGTGCTGGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01358.hp2 HG06807.hp2 others(2): Show HG01261.hp2 HG01358.hp2 HG06807.hp2 NA18906.hp2 NA18986.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0002c0010 others(1): Show a0001c0001 a0002c0002 a0002c0010 a0014c0019	a0001c0001t0001 a0002c0002t0004 a0002c0010t0002 others(2): Show a0001c0001t0001 a0002c0002t0004 a0002c0010t0002 a0002c0010t0003 a0014c0019t0003	a0001c0001t0001g0141 a0002c0002t0004g0267 a0002c0010t0002g0052 others(2): Show a0001c0001t0001g0141 a0002c0002t0004g0267 a0002c0010t0002g0052 a0002c0010t0003g0233 a0014c0019t0003g0255	5	272	0.0184	-37	c.28 others(48): Show c.2831_*2867delGGCCCCCAGCACCTCCTCCCTCAGACCCAGGAGT CCA		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2675		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834448	TGCTGGGG others(30): Show TGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG00738.hp2 others(8): Show HG00423.hp1 HG00642.hp2 HG00738.hp2 HG01069.hp2 HG01261.hp1 HG01433.hp2 HG01952.hp2 HG01978.hp2 HG02004.hp1 HG02293.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0117 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0007g0263	11	200	0.0550	-37	c.28 others(48): Show c.2804_*2840delCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2648		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834493	TCTGGACT others(30): Show TCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02735.hp1 HG02886.hp2 others(1): Show HG02040.hp2 HG02735.hp1 HG02886.hp2 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0134 a0002c0002t0002g0065 a0002c0002t0002g0080 others(1): Show a0001c0001t0001g0134 a0002c0002t0002g0065 a0002c0002t0002g0080 a0002c0002t0002g0088	4	265	0.0151	-37	c.27 others(48): Show c.2759_*2795delGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTC CAG		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2603		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834528	GGCCTGGA others(30): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18956.hp1 NA19074.hp1 HG00558.hp2 NA18956.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0008t0001g0018 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0008t0001g0018	3	287	0.0105	-37	c.27 others(48): Show c.2724_*2760delTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2568		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834639	AGCCTGGA others(30): Show AGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02735.hp1 NA18999.hp2 HG02040.hp2 HG02735.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0134 a0002c0002t0002g0065 a0002c0002t0002g0080 a0001c0001t0001g0134 a0002c0002t0002g0065 a0002c0002t0002g0080	3	284	0.0106	-37	c.26 others(48): Show c.2613_*2649delCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCA GGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2457		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834704	AGGGCTGG others(30): Show AGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03225.hp1 NA18947.hp1 others(1): Show HG02965.hp1 HG03225.hp1 NA18947.hp1 NA20129.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0015	a0001c0001 a0002c0002 a0007c0009 others(1): Show a0001c0001 a0002c0002 a0007c0009 a0015c0020	a0001c0001t0001 a0002c0002t0003 a0007c0009t0001 others(1): Show a0001c0001t0001 a0002c0002t0003 a0007c0009t0001 a0015c0020t0010	a0001c0001t0001g0156 a0002c0002t0003g0250 a0007c0009t0001g0013 others(1): Show a0001c0001t0001g0156 a0002c0002t0003g0250 a0007c0009t0001g0013 a0015c0020t0010g0094	4	245	0.0163	-37	c.25 others(48): Show c.2548_*2584delCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAG CCC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2392		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834787	AGCCTGGA others(30): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01943.hp1 HG04199.hp2 others(1): Show HG01099.hp1 HG01943.hp1 HG04199.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0142 a0001c0001t0001g0181 a0002c0002t0002g0035 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0181 a0002c0002t0002g0035 a0002c0002t0002g0060	4	276	0.0145	-37	c.24 others(48): Show c.2465_*2501delCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2309		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834934	AGCCTGGA others(30): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18956.hp1 NA19074.hp1 HG00558.hp2 NA18956.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0008t0001g0018 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0008t0001g0018	3	280	0.0107	-37	c.23 others(48): Show c.2318_*2354delCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA GGC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					2162		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835260	CTGGGGGC others(30): Show CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0224 a0002c0002t0001g0224	1	297	0.0034	-37	c.19 others(48): Show c.1992_*2028delTCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCC CCA		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					1836		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835583	GGAGGGGC others(30): Show GGAGGGGCTGGGGACCTGGACTCCTGGGTCTGAGGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02523.hp1 HG02015.hp1 HG02523.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0018 a0001c0008t0001g0218 a0001c0008t0001g0018 a0001c0008t0001g0218	2	298	0.0067	-37	c.16 others(48): Show c.1669_*1705delTGCCCTCAGACCCAGGAGTCCAGGTCCCCAGCCC CTC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					1513		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835608	GGGTCTGA others(30): Show GGGTCTGAGGGCAGAGGGGCTGGGGGCCTGGACTCCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG03209.hp1 HG02109.hp2 HG02965.hp1 HG03209.hp1	a0002 a0015 a0017 a0002 a0015 a0017	a0002c0022 a0015c0020 a0017c0021 a0002c0022 a0015c0020 a0017c0021	a0002c0022t0010 a0015c0020t0010 a0017c0021t0004 a0002c0022t0010 a0015c0020t0010 a0017c0021t0004	a0002c0022t0010g0053 a0015c0020t0010g0094 a0017c0021t0004g0276 a0002c0022t0010g0053 a0015c0020t0010g0094 a0017c0021t0004g0276	3	298	0.0101	-37	c.16 others(48): Show c.1644_*1680delTAGGAGTCCAGGCCCCCAGCCCCTCTGCCCTCAG ACC		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					1488		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48836699	CCCCAGCC others(30): Show CCCCAGCCCCTCCTCCCTCAGACTCGGGAGTCCAGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	298	0.0034	-37	c.55 others(46): Show c.553_*589delAGGCTGGACTCCCGAGTCTGAGGGAGGAGGGGCTGG G		PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding					397		chr19	TogoVar
PLEKHG5_chr1_6462122_6496667	6475194	GCCCTCCT others(30): Show GCCCTCCTCCCCACCCTCCTTCCCACCCTCCTTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00642.hp2 others(43): Show HG00423.hp1 HG00438.hp2 HG00642.hp2 HG01255.hp1 HG01261.hp2 HG01433.hp2 HG01993.hp1 HG02027.hp1 HG02083.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02735.hp2 HG02809.hp1 HG02922.hp2 HG03209.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03669.hp2 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18961.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18977.hp2 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp2 NA19057.hp2 NA19066.hp1 NA19089.hp2 NA19240.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0007 a0013 a0020 a0022 a0023 a0026	a0001c0001 a0002c0008 a0004c0007 others(6): Show a0001c0001 a0002c0008 a0004c0007 a0007c0006 a0013c0019 a0020c0014 a0022c0025 a0023c0021 a0026c0037	a0001c0001t0001 a0001c0001t0003 a0002c0008t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0002c0008t0001 a0004c0007t0002 a0007c0006t0001 a0013c0019t0001 a0020c0014t0001 a0022c0025t0001 a0023c0021t0001 a0026c0037t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0098 a0001c0001t0003g0108 a0001c0001t0003g0166 a0002c0008t0001g0044 a0002c0008t0001g0118 a0002c0008t0001g0143 a0004c0007t0002g0019 a0007c0006t0001g0042 a0007c0006t0001g0171 a0013c0019t0001g0058 a0020c0014t0001g0177 a0022c0025t0001g0144 a0023c0021t0001g0091 a0026c0037t0001g0056	46	270	0.1704	-37	c.211 others(50): Show c.211-93_211-57delTTGGGAAGGAGGGTGGGAAGGAGGGTGGGGAG GAGGG		PLEKHG5	ENSG00000171680.23	transcript	ENST00000377728.8	protein_coding	4/20						chr1	TogoVar
PLEKHG7_chr12_92697989_92777455	92727987	CACACACC others(30): Show CACACACCACATTCCATGGTGTATATATAAATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02071.hp1 HG02129.hp2 others(6): Show HG01192.hp2 HG02071.hp1 HG02129.hp2 HG02165.hp2 HG02559.hp2 HG02970.hp2 NA18747.hp1 NA19004.hp1 NA19084.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0002c0011 a0012c0017 a0002c0002 a0002c0011 a0012c0017	a0002c0002t0009 a0002c0011t0005 a0012c0017t0001 a0002c0002t0009 a0002c0011t0005 a0012c0017t0001	a0002c0002t0009g0011 a0002c0002t0009g0017 a0002c0002t0009g0176 others(4): Show a0002c0002t0009g0011 a0002c0002t0009g0017 a0002c0002t0009g0176 a0002c0002t0009g0191 a0002c0002t0009g0192 a0002c0011t0005g0027 a0012c0017t0001g0190	9	187	0.0481	-37	c.531 others(52): Show c.531-578_531-542delTATATATAAATATATATACACACCACATTC CATGGTG		PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHN1_chr1_961482_980865	964745	CGGGTCCG others(30): Show CGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0102 a0003c0005t0004g0102	1	420	0.0024	-37	c.-17 others(48): Show c.-1786_-1750delGGGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGG GCG		PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding					1736		chr1	TogoVar
PLGRKT_chr9_5352971_5442925	5433534	CGCCCCGT others(30): Show CGCCCCGTCTGGGATGTGAGGAGTGCCTCTGCCCGGCT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	412	0.0024	-37	c.-6- others(52): Show c.-6-1588_-6-1552delAGCCGGGCAGAGGCACTCCTCACATCCCAG ACGGGGC		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	2/5						chr9	TogoVar
PLOD3_chr7_101200984_101222581	101209189	CTTCCGTA others(30): Show CTTCCGTAACAGTGCATACCTCTTTTTTTTTTTTTTGA	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0138 a0001c0001t0011g0138	1	426	0.0023	-37	c.168 others(54): Show c.1684-269_1684-233delTCAAAAAAAAAAAAAAGAGGTATGCACT GTTACGGAA		PLOD3	ENSG00000106397.12	transcript	ENST00000223127.8	protein_coding	15/18						chr7	TogoVar
PLSCR2_chr3_146428288_146474561	146473670	TCAAAACT others(30): Show TCAAAACTCAGTATCTGCTCTTACATGGTAAAATAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	362	0.0028	-37	c.-43 others(48): Show c.-4392_-4356delCACTATTTTACCATGTAAGAGCAGATACTGAGTT TTG		PLSCR2	ENSG00000163746.13	transcript	ENST00000696113.1	protein_coding					4110		chr3	TogoVar
PMS2_chr7_5965925_6014049	5987291	TCTCCACC others(30): Show TCTCCACCTCCGCTCTGTCCGTAGGGTCACTGGGTCCG	T T	frameshift_variant frameshift_variant	HIGH	NA18994.hp2 NA18994.hp2	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0027 a0022c0034t0027	a0022c0034t0027g0228 a0022c0034t0027g0228	1	406	0.0025	-37	c.143 others(46): Show c.1437_1473delCGGACCCAGTGACCCTACGGACAGAGCGGAGGTGGA G	p.His others(5): Show p.His479fs	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding	11/15	1503/5093	1437/2589	479/862			chr7	TogoVar

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